Here some suggested organisations that offer expert advice on SN.

Is anyone else starting out on the road to a diagnosis? Fancy holding hands on the bumpy path?

(1000 Posts)
hazeyjane Mon 16-May-11 22:34:45

Ds (10 months) had 2 appointments in one today, a medical assessment and developmental assessment. He was referred at 7 months to the community paeds, due to developmental delays.

We are now booked in for some blood tests next week, and some physio, and have been referred to a SALT, for portage and to a special needs playgroup.

It is all so overwhelming, on the one hand I feel so much better, after months of waiting that I am able to do something. On the other hand I feel as though everyone is still scratching their heads over ds, and I just want someone to say, 'ah well Mrs Hazeyjane, your son has -- thats why he can't do these things, (well I don't, obviously I'd rather they said, 'ds will catch up and there is no issue, now be off with you'!)

I know that this is going to be a long process, is anyone else just starting out, or a little further down the road, for handholding, venting and advice?

spiritsam Mon 16-May-11 22:56:20

Hi hazeyjane
Yes to handholding , venting e.t.c smile Bless you your Ds is young , do you have any feelings yet on what is going on ? How did the appointments go today ? There are lots of lovely , experienced people on here .And yes it's all a long process .
My Dd is 3 end of May , have Child Development HV coming next Monday to observe and bring appointments for Paed and OT . she has SALT too .

1980Sport Tue 17-May-11 00:02:12

Hi Hazey - my DS was referred at 7 months seen the Paed at 10 months was referred to Dev Paed and seen her two weeks before his first birthday in December 2009. He's now 2.5, has regular SALT, OT and physio - after 18 months of tests it is believed he has a genetic condition which is likely to be very rare has they have yet to dx it!

I'm here for any hand holding and there are many more of us on the genetics and chromosome testing thread - not to say your DS has a genetic condition just that there are others with DC with developmental delays seeking a diagnosis!

hazeyjane Tue 17-May-11 03:28:31

Thankyou, it feels so much better to talk to people going through/or have been through the process. My friends in rl are fantastic (especially the one who grabbed her children and car keys to go and pick up my dd2 from preschool today, when ds's appointment overran!) but don't understand the fact that so much of the process is waiting and seeing.

Today went well, in that we have moved a few steps further down the road (blood tests, SALT booked - we will see her in next 2 weeks, which is astounding!) one of the paeds we met was lovely, the other one was terrifying! A couple of things were mentioned today, which were specific - the low tone in ds's trunk and arms, the fact that everything he does seems to require a lot of effort, his lack of babbling, and it feels better when there are specifics to latch on to. Otherwise it all feels a bit vague!

On the other hand, it is always a bit crap to watch ds be handed toys and bricks and see the lack of interest and ability to hold them.

1980sport, I'll have a look for the thread. Did something show up in the original blood tests that your ds had? Did your ds have the original referal due to developmental delays? How is your ds doing now? (sorry to hurl questions at you, especially at 3.30 in the morning!)

Spiritsam, have you been waiting long to see someone?

outthere Tue 17-May-11 08:27:27

Hi Hazeyjane,

Just wanted to say hi as your DS sounds very much like my DS was at the same age (he's 3 and a half now!).

My DS also has low tone in his trunk, legs and glutes. He only started sitting unaided at 10 months, crawled at 14 months and walked at 21 months.

I also know what you mean about not being interested in grabbing toys or babbling. My DS was 20 months when we first took him to see a specialist and he didn't walk, talk, wave or point - it was all very concerning.

He still has some issues now, still sees a specialist and is still waiting on a diagnosis (I'm thinking possibly a chromosome 15 duplication now) but he's generally very happy, chatty and affectionate.

Sounds like you have all the right help and support in place which really is the main thing.

When's your next appointment with the Specialist?

LeninGrad Tue 17-May-11 09:06:42

Hello hazey, lovely to see you here, well you know what I mean. Best of luck with the appts.

1980Sport Tue 17-May-11 09:13:11

Hi Hazey - DS was referred because of the delays. He's my PFB so I'd nothing really to compare to other than friends' LOs but I was concerned that he wasn't reaching out for things, rolling beginning to sit etc. On the otherhand he'd breast fed for 6 months after a rocky start, weaned brilliantly, slept like a dream, never cried and was happy and giggly! So I did think - there's nothing really wrong and was quite shocked at the initial referral!

He's had MRI, EEG, Karyotype, Fragile X, microdeletions, various bloods for a whole list of other conditions and has seen a neurologist, genetics and orthopedics for suspected curvature of the spine - all of these have been clear! The geneticists has pin pointed a genetic cause for his delays because he has subtle genetic indicators - wide spaced teeth, snub nose, prominent forehead, prominent jaw. Although geneticist says these would only be apparent to anyone in the genetics field.

He is doing great but still very very behind and we are disappointed with his speed of progress but are slowly learning to accept this is the way it's going to be - he sat unaided at about a year, still doesn't crawl but is weight bearing well and we are trialling a walker for him. He babbles away and his reaching is fantastic now (at 10 months he couldn't hold/reach/pass) - he can be very determined when he wants to be! His tone was very low too but we've worked hard on the physio and the therapist says it's improved dramatically and is now on the bottom scale of normal

1980Sport Tue 17-May-11 09:19:48

Sorry pressed send too early - I know the Paed's can be intimidating so can the various therapists! It's definitely a journey and one that I'm coping with much better with the help of this forum. My RL friends have been great but I'm conscious that everyone else has their own family issues so I try not to go on too much. My own parents are pretty useless - I think my mum thinks it's my fault and God fobid their be anything wrong with the genes on our side of the family hmm PILs are amazing but they worry so much so we try not to tell them everything as their health isn't great!

hazeyjane Tue 17-May-11 21:34:00

Thankyou so much for your posts.

It is heartening to hear about your dcs babbling and chatty. At the moment ds can't sit or roll, but has good leg strength. He has a killer smile and is such a happy,good natured little boy, I feel bad that I have to remind myself to focus on his lovely qualities, rather than see what he can't do.

I can't believe all the tests that your los have had to go through, and still no answers. We have our first blood tests next Mon, then the Thurs after we have a Team Around the Child meeting, with all the professionals involved in ds's care so far (i am fairly crapping myself about this!)

Hello Lenin - I thought I'd take your advice about jumping in!

1980Sport Tue 17-May-11 21:44:43

I found the team meetings very difficult because it was so hard to hear those involved focussing on all the things he can't do! I'm finally getting to the point of bring able to just look at him and not constantly compare him to others.

Good luck for next week - let us know how you get on!

Hayley16 Wed 18-May-11 13:44:48

Hi
My DS has alot of health problems and his development is getting quite behind and is really begining to get to me. All his problems are still being looked into and he is now 11 months and we are no closer to find out whats wrong with him.
He smiled when he was 6 weeks as an average baby would do but since then we have met no developmental milestones. He has never laughed or really made any sounds other than a cry or occasionally a screech. He has just began batting at toys & tries to pick them up but struggles as he holds his hands in a fish and has a clasp thumb on 1 hand. When placed on his tummy he cant lift any of his weight up onto his arms and doesn't bare any weight on his legs when held. He has heart problems & has had feeding problems from birth & is mainly fed via gastromotomy tube.
DS problems were picked up from birth as he had "dismorphic features" as the doctors so kindly put it. He has had genetics tests done which have all come back clear so we have just been put on a study at Alder Hey Hosp to look more closely into him.
We regularly see a paed & pyhsio. We have been refered to SALT whom we see on friday for the first time & are waiting for our OT app.

We have spoken before hazey jane & im glad you are now begining to get your ds looked into. I do feel very much like you when you say you feel like people are scratching their heads over your ds.
Its a very long process i feel! We are nearly a yr into it now and still in total darkness over whats happening.
We had an app yesterday with a hand specialist to look into DS clasp thumb & whilst there doctor noticed a lump on DS head (which many doctors have pointed out to us) He seemed quite concerned & also he was a bit worried by the fact DS hands and feet are always either blue or bright red. We are waiting for a heart scan which will hopefully explain about his skin colour & waiting to see someone about DS lump on head but everything takes so long! Its so frustrating.

Chundle Wed 18-May-11 14:23:54

Hi hazeyjane my dd2 is 21 months we started out on this long road wen she was 9 months. We have seen many professionals and are still no nearer a dx sad sometimes i wish someone would just tell me what was wrong so I could pour my energy into finding the right help for her. She has no physical disabilities more speech, social, sensory integration, behavioural etc etc.

hazeyjane Wed 18-May-11 21:18:45

Hello Hayley, I remember talking to you about your ds before. I'm sorry that you are no closer to any answers. You mentioned Cri du chat, in one of your previous posts, does that still seem to be a possibility? It is so frustrating when dealing with different doctors, that something that seems unimportant to one, causes concern with another, I hope you get some idea about the lump on your ds's head soon.

Hello Chundle, your situation sounds very difficult. Your dd seems so young, has any therapy been set up for you to do with her? I am finding the not knowing a little better, now that we have some physio to focus on (although I suffer from intense guilt if I don't do as much with him as I should).

Saw the HV that originally referred us today, who gave me some advice about getting ds to eat more solids (he is up twice a night for milk, and then up for the day from 4.30ish onwards). I felt a bit of an idiot sitting in the waiting room with all the other mums, with a huge file, instead of a red bookblush!

Hayley16 Wed 18-May-11 22:09:37

We did ring genetics about Cri Du Chat bt they said he definatly doesnt have it which was nice to know.
A few months ago we did have his head xrayed as paed wanted to look into it & we were told it was just were his skull had joint together to early & was pushing a bit of his brain forward but he said it was ok ( I was quite alarmed) bt recently more & more ppl seem concerned over it.
What sort of advice did you get about getting ds to eat more solids? Im really struggling. I managed 2 get 1 weetabix down ds for breakfast, about 2 tablespoons of a puree down him for lunch, 2 tablespoons for tea & 1 tablespoon of pudding. & even getting that down him is a struggle. Is your ds interested in finger food at all?

Came across this poem. Dont know if any1 has read it before but i thought it was lovely

Heaven's Special Child

A meeting was held quite far from earth

"Its time again for another birth."

Said the angels to the Lord above,

"This special child will need much love."

His progress may seem very slow,

Accomplishments he may not show,

And he'll require extra

From the folks he meets way down there.

He may not run or laugh or play

His thoughts may seem quite far away,

In many way he won't adapt,

And he'll be known as handicapped.

So lets be careful where he's sent

We want his life to be content

Please Lord find the parents who

Will do a special job for you.

They will not realize right away

The leading role they are ask to play

But with this child sent from above

Comes stronger faith and richer love.

And soon they'll know the privilege given,

In caring for this gift from Heaven

Their precious charge, so meek and mild

"Is Heaven's Very Special Child."

hazeyjane Fri 20-May-11 19:09:42

Thankyou for posting that poem, Hayley. The only advice I have had about ds and eating is to feed him 6 small meals a day, rather than try to stick to breakfast, dinner and tea. The only trouble with this is that with 2 other children, and being out and about a lot, it is quite tricky to find places and times to sit ds down for some food, also tbh half the time he just isn't interested. I think he gets tired easily, and when he is tired he just wants milk and a cuddle.

Have you been referred for portage, or for any special needs groups? I have bee struggling with baby groups, as I have found it hard to watch other babies hitting the milestones that ds isn't, but I know how good it would be for him and me to go to these things.

I made the effort to go to a baby group today, and actually felt a lot better for it, I now have a polite but informative spiel, for when people show surprise at ds's age, or when people ask all the , 'is he crawling/rolling/sitting/pulling up etc' questions.

Chundle Fri 20-May-11 20:50:50

Hi yes we have OT, music therapy and go to a CDC weekly. We are seeing paediatrician soon fingers crossed for more answers x

Hayley16 Fri 20-May-11 21:01:37

I find with ds that he loses interested very quickly with his food. Like he doesn't have a very good attention span. With his bottles he is the same, he will tkae a few mouthfuls and then stop. Very frustrating.
We havent been refered to portage yet. It has been mentioned to us bt im not 100% sure what they actually do. Would be something id like to look in to.
We had our first SALT appointment today. They said they can see he has very little understanding of whats going on in the world around him & he needs alot of oral stimulation(as he doesn't yet explore toys with his mouth) before we can think about helping him to begin talking. Shes coming back in a few weeks to show us different things we can do to help him with this. She also wants us to go to baby sign classes.
Ive never been to any special needs groups. I think for a while ive not seen him as being a 'special needs' child. Maybe been burying my head in the sand abit in the hope that tomorrow he will wake up & suddenly be ok bt maybe its something i should look into.
I do no what you mean about struggling to watch other babies hitting the milestones. So heartbreaking thinking your dc should be doing that.

1980Sport Fri 20-May-11 21:29:30

I stopped going to mums and tots too and felt terribly guilty that DS was missing out on something! But I found a great SN mums and tots held at one of the SN schools and it's perfect - about 6 kids go, 3 other mums and the nursery teacher and TA run it. I get lots of info, tips and hints from the teacher and other mums. It's also nice to talk to people about statementing, hospital appointments, tests and therapy with people who understand!

Hayley - I'd recommend Hanen - it takes two to talk. It's very expensive - we borrowed a copy from our SLT initially.

Chundle Fri 20-May-11 21:32:52

We have never been able to go to toddler groups as dd can't stand the other kids noise and them touching her so we go to a fab step by step SN group run by surestart which she loves.

anon1110 Sat 21-May-11 11:47:14

Hi everyone, Just marking my place!

Outthere your DS sounds a lot like mine, my DS is 2.8 now and he sat up at 9 months, crawled at 13 months and walked at 21 months, didnt babble at all in his first year and now is just starting to talk loads more, but has been a long time coming!

My DS is such a lovely child though and says Hiya! to everyone and everybody how lovely he is I have even had prefect strangers come up to me and tell me he is gorgeous, my heart bursts with pride and I totally agree with them, lol!

Hayley16, has your DS got any more appointments for his head? Only my DS was born with a fused skull, and it sounds like something they should be looking into a bit more?

We have just started on the route to genetic testing as im pregnant and they decided oh, we'll see if its genetic now, after taking almost 2 years for them to start listening to me, as it's took a long time to get them to notice DS development as they always say oh every child is different, he'll catch up!

Agree on the tot's groups was only saying on another thread the other day I stopped going to them cos was fed up of people bragging about their childs achievement as though they are the most fantastic parent in the world.

Hayley16 Sat 21-May-11 15:32:57

Thanks for the recommendation 1980sport ill defo have a look into it.

anon1110, we are suppose to be seeing someone for his head. Im not sure what department will actually look into it. We have a neurology app in june, nt sure if they would deal with it? Did anything have to be done to correct your ds head?
Congrats on the pregnancy! I really hope it all works out for you. Id love another baby bt i am scared of having to go thru all this again.

EllenJaneisnotmyname Sat 21-May-11 15:45:48

It takes two to talk link here is an excellent book. This is the cheapest source that I can find. Expensive but worth it.

anon1110 Sat 21-May-11 21:07:00

Hayley16,

We were seen by the craniofacial clinic at Birmingham Childrens Hospital. and they diagnosed it with a CT scan, although with my DS it was pretty obvious as he had a long 'boat shaped' head. He had corrective surgery at 8 months old. My Ds see's a neurologist occasionally to make sure it as had no lasting effects, which they dont really know.

Just wish I didnt have all this to deal with whilst pregnant, if they had listened from the start maybe we would already have a diagnosis!

Hayley16 Sat 21-May-11 21:24:39

Anon1110,
Ah yes its craniofacial we are meant to be seeing. We have been waiting about a month now for an appointment sad seems to take forever to see who we need to. Hopefully we will get to see them soon as im a bit concerned now more & more of his doctors seem to be noticing it. Hope its nothing bad.

anon1110 Sat 21-May-11 21:46:11

Hayley16,

Is there someone you can ring to see if you can get an earlier appointment? It is a lot of waiting, when my Ds had his operation they said oh we normally do this at 6 months your DS is having it late, I was like who's fault is that then?!

We have waited almost a year for my son to get assessed, was told he was put on a waiting list and would take 6 months it has just come for june and its a nursery setting and is supposed to go 4 times a week for 4 weeks, only problem is that he has just started nursery so dont know what we are going to do now!

hazeyjane Mon 23-May-11 06:30:53

Hello, hope everyone is doing ok.

Ds has a load of blood tests this morning, which I am dreading, but at least its a little step towards some answers (maybe?!)

Then we are seeing the physios, hopefully ds will be a little happier this time, last time we saw them he spent most of the session crying, wanting a cuddle.

Ellen, thankyou for the book recommendation, it looks really good. My dd2 sees a SALT because she has a stammer, I'll ask her if she has it.

Hello anon110, congratulations on your pregnancy, although it must be hard having to deal with all this at the same time.

EllenJaneisnotmyname Mon 23-May-11 08:22:27

Hi HazeyJane, I was aiming that book at Hayley16, as someone else had recommended it. Amazon is about £12 dearer. Probably not suitable for a stammer. Sorry.

hazeyjane Mon 23-May-11 14:08:29

Sorry EllenJane, I was thinking of the book for ds, who has been referred to a SALT because he is not babbling or showing much interest in communication. I just thought that dd's SALT might have a copy i could look at, rather than it being useful for dd.

Sorry if that all came out a bit garbled!

Stressful morning of blood tests, took 3 drs and 3 attempts to draw enough blood, poor ds, it was horrible. Then had a very good physio session. Now having cake and coffee!

EllenJaneisnotmyname Mon 23-May-11 14:28:18

Ooh, yes. This is such a long thread now that I've forgotten the start of it! It's a great book for any sort of speech delay. Do ask the SALT if she likes it. My DS's SALT recommended it to me, I got the ASD specific version, 'More Than Words,' which was my bible for a few years! It made so much sense, and helped me to make sense of my DS's ASD. Sorry to gush! blush

Hayley16 Wed 25-May-11 13:41:41

anon1110
Had our craniofacial app thru today. Its for 5th July so will hopefully get some answers soon. We saw the paed on Monday who said the lump on his head could explain the whole reason DS is the way he is.
hazeyjane
Sorry the blood tests were so horrible sad the doctor told me to leave the room when DS had his done as he said it wudnt be nice to watch sad Are these blood tests for the genetic testing?

hazeyjane Wed 25-May-11 13:56:51

Hayley, glad you got your appointment through. Waiting is so hard. Interesting to know that the lump could be at the root of your ds's issues. I hope you are doing ok.

I don't think the dr could have done the blood test without dh and I holding ds, but it was horrible, he slept for practically the whole day afterwards, I think it must have exhausted him. The bloods were for chromosomal testing, and to test amino acids and thyroid function. I think we may have quite a long wait for results though.

anon1110 Wed 25-May-11 20:20:49

Hayley,

If you dont mind me asking what sort of lump are they on about?
Only asking cos my son had a ridge from the front of his head to the back and this is where the bones in his skull overlapped?
Also if they think this is the reason your son is delayed it could also answer some questions for me?!

Hayley16 Wed 25-May-11 21:33:31

hazeyjane
Hope your wait isnt too long sad luckily my ds had his tests when he was quite young & because he was so poorly & we were so preoccupied in the hosp time went by really fast & our results were back before we knew it. Its a funny feeling waiting for them tho, on one hand you want to know what it is bt on the other hand part of me really didn't want him to get diagnosed with an awful syndrome.

anon1110
The lump starts at his hairline and goes roughly 2 inches down his forehead & is about 1-2inches wide. Its not overly noticable. a prominent metopic suture the genetics team called it.
Im a bit confused over it 2bh. Originally when we bought it up with ds paed he sent us straight for an xray & we were told that the front bones had fused bt it wasnt a problem because the back were still open & nothing more was said about it until we saw genetics a few weeks ago who seemed a bit concerned & arranged our craniofacial app for us . Then when we saw paed again on monday he just said that the lump could hold big clues to his delays & other healthy issues bt it does make me wonder why if he thought this he never got it looked into more for us.
Do you know what the name of your DS ridge was? Did it all heal up ok after the op?

anon1110 Thu 26-May-11 21:11:59

Hi Hayley

There are different plates in the head and depending on where the bones are fused determines how the skull will grow, for example my DS' bones were fused at the top running from the front to the back, so the head only had one way to grow, longways. He had sagittal synostosis.

Also my DS had a xray and they couldnt really tell by looking at that whether his head was fused or not so they had to do CT scans to confirm, so this may happen.

There is a website if you want to take a look, its a support group for parents of children with Craniosynostosis, dont be shocked by the pictures on it though, they tend to put the worst cases on the net I find, my DS looked almost normal.

Here's the link www.headlines.org.uk

mummytopebs Fri 27-May-11 22:21:09

Hi could I join? My dd has completly different symptoms etc to your lo but I am to waiting for a diagnosis and have been since she was 2 weeks old.

DD is now 16 month and the blood supply cuts off to her limbs especially her left arm and leg, we have had loads of blood tests, gentics tests, chromosome tests etc all of which have come back negative. She has even had bllod sent to Germany as a consultant there thought they knew what the problem was, but again nothing.

She had an mri angiography 6 weeks ago and they thought the main vessel to her heart was to narrow so I was relieved that hey seemed to have found an explanation, she had a ct scan 2 weeks ago to confirm this diagnosis and this was found to be normal so we are back to square 1.

I just feel so useless and feel like bad mam as I feel like I am wishing something on my child, but I just want them to diagnose her and then I can deal with it, instead of consultants all scratching there heads!!

The poem that someone put on was lovely btw. Hope you dont mind me coming on this thread, realise that my dd symptoms are different from you lo's but could do with some support

Hayley16 Sat 28-May-11 20:48:36

anon1110
Thanks for that website, Will defo take a look. Really hoping this lump is nothing and will go away on its own. The idea of surgery in that area scares me.

Mummytopebs
Hi, im sure everyone here will be more than happy to offer you support smile
I no exactly how you feel about wishing something on your child, its an awful feeling but not knowing what is wrong with your child really is horrible.
I sometimes feel that because noone can find out what it is that people think im making my ds out to be worse than he is & people just say to me oo he will catch up, hes just a bit slow but i know from spending everyday with him that something isnt right.
You say the blood supply cuts off to your dd limbs? What actually happens? My ds goes blue down one side of his body. His right hand and feet go a very funny blue/grey colour but none seems concerned over this. Hes had a heart scan where we were told he has heart failure but they are just going to monitor it & have heard nothing from them since septemeber so am fighting to get his heart rescanned.

mummytopebs Sat 28-May-11 23:07:07

I constantly feel that people think I am making it up or making it out to be worse than it is and its a horrible feeling that people dont seem to believe me, even gp's etc, I get the feeling they are looking down on me or judging me in some way.

She goes blue/purple/mottley. When it has completly cut off ((this has happened 4 times) the limbs have gone black. We have got a wonderful consultant at the minute who has put her on nifedipine to open her blood vessels and this has improved it slightly. I think her consultant is just as frustated as us, although sometimes I feel he is excited that he may have stumbled upon a new condition.

The thing that worrys me the most is because they dont know what is happening I dont know when to worry for example dd had a bleed in her stomach about 8 weeks ago which they believe may have been blood vessels shutting down or due to her being on asprin, this week her poo has gone cream colour so I am now worried something might be happening in her liver, but when I have took her to my gp they just say virus. It may well be a virus but I hate the feeling that it might not be.

I would fight with the rescanning with your lo heart

anon1110 Sun 29-May-11 12:33:11

Hi,

Just wanting to agree with you all on the whole people thinking you are making things up, I get so angry and feel so isolated because of this.

I only got the results back a few days ago from genetics saying everything came back normal, so I rang my mum and told her only to be shouted at with 'well I keep telling you there is nothing wrong with DS, stop all this nonsense, and stop keep sending him to specialists, he'll catch up on his own when he's at school'

I feel so sad and alone, and basically feel like im going mad, wondering if I am over thinking everything and im wrong about this.

mummytopebs, that sounds really stressful with your DD, hopefully they can get some answers for you soon, and hopefully something to help her.

Hayley16 Sun 29-May-11 19:39:25

mummytopebs
Must be really scary when dd goes black! That sounds really awful. Does she have any trouble with her breathing at all? My DS is a really noisy breather, i think they put it down to narrow airways which are being monitor & sometimes in his sleep he will stop breathing for a few seconds but the doctors don't seem concerned over this. I have to constantly check on him when he sleeps or i worry. I really hope you get some answers soon to put your mind at rest

Anon1110
Glad your results came back normal altho im sure in some ways your annoyed by it as your still clueless as to whats going on. Must be really hard when you don't have the support of your mum. Do you have any other support around you? DP or close friends? I think my family are starting to see that my ds is in quite a bad way now hes getting older. He has a cousin who is 10 weeks younger than him & she is sitting up & crawling around & on finger food whereas my ds still can't sit & doesn't undertsand how to eat.

hazeyjane Thu 02-Jun-11 21:29:38

Hello, just thought I'd let you know about the Team Around the Child Meeting we had today.

Meeting was good, everyone seemed very on the ball, there was a paed to cover medical assessments, a paed to cover developmental assessments and the 'big cheese' paed (his official title, I believe), then the physio, our nursery nurse (standing in for HV), the chairwoman ( a representative from the special needs centre where we have our appointments) and a woman from the early years support services. Each person went through what they had assessed about ds and where he is developmentally. They said that he was roughly at the level of a 4 month old with his gross motor skills, and at the level of a 6 month old with everything else, except his social development, which was on course for 11 months. They thought that everything was caused by his poor muscle tone, and intermittent stiffness, including his problems with eating, and lack of babbling and communication through waving, clapping etc.

At the end it was rather bizarre, because the 'big cheese' paed suddenly said he would like to see us for a consultation there and then, with the other 2 drs. He examined ds, and said he needed his hips x-rayed, and he would also like him to have an mri scan, regardless of the results of the genetic testing. He then gave us a form and said to take ds there and then for the xray, and to request an mri scan asap, with an additional request to have a last minute one (with a days notice) if there is a cancellation (it is normally a 5-6 month wait). He chased up the genetic tests, asking for them to be prioritised, and said he would like us to see a dr in Oxford, who specialises in muscular conditions.

We were a little freaked out to say the least, about the sudden change in gear. One of the drs, assured us that they just felt it was very important to get a move on with the diagnosis, but when I pressed and asked if there was something they were conserned about, he just said that there were certain things that they would like to rule out.

Sorry for rambling on, we are exhausted, and I just needed to splurge it all out.

Hope everyone is ok.

1980Sport Thu 02-Jun-11 21:45:35

Hi Hazey - Glad it went well, I'm sure you need a glass of vino! If it's of any reassurance the tests all sound very similar to the ones DS had first. His genetics apts came afterwards!

Hayley16 Sat 11-Jun-11 15:15:59

Hi Hazeyjane
Glad your finally getting somewhere. cCan totally understand why you were freaked out about the sudden urgency to get things looked at. Have you heard anymore from them yet?
We see Neurology on fri. Really hope they will get things rolling with ds mri. They mentioned they weren't too keen to do 1 unless it was being done at the same time as another operation he mite have to have as with him having breathing problems they dont want to put him to sleep too many times. But hes having another gastrostomy op in july so hopefully will do then.

We had our first occupational therapy session last week. She seems really nice & i think she will be able to help ds loads. Says the strength in his hands seems really weak but can hopefully be strengthened thru doing some exercises. Also noticed he is favouring his right hand alot.
Good news is that ds is almost sitting up! Hes in one of them doughnut blow up ring things n can sit up for about 20 mins but it does support him a bit but its such a big step for him! So pleased!

Firsttimer7259 Sat 11-Jun-11 15:40:58

Hi everyone, I'd like to join. Ive seen some of you about during my lurking and occasional posting here and on behaviour/development.

Dont have much time today but today I am feeling suddenly very low about my girl and think I need to make contact with people who are going through the same or similar journey. Shes 16 months old and at the developmental level of a 10 month old. Delays in development are across the board (thats good I think) and she's been making good progress recently

Feeling very lost today. Anyway.

Congratulations on the progress you or your little ones are making. Fingers crossed for us all.

Will check in again soon

Hayley16 Sun 19-Jun-11 10:50:57

Hi

Had our neurology app on friday. Was told DS was classed as having a severe global developmental delay & wud more than likely grow to have significant learning difficulties. We pretty much already knew this but hearing someone actually say it was very hard to hear. Just wish i could look into the future & see what he will be like.
He also said the lump on ds head indicates brain damage. Seemingly the majority of children with a lump there will all have some form of problems.
Got to wait till the 5th of july to get the lump looked at properly.
Hope everyone is doing ok

EllenJaneisnotmyname Sun 19-Jun-11 11:06:42

Hi Hayley. So sorry to hear you have had your suspected DX confirmed. However much you thought you already knew, having it made 'official' is really hard. Remember that he hasn't changed, he's still the same lovely boy. I have always coped by not looking too far ahead in the future. I've concentrated on how to help my DS now and only looked ahead to the next task, getting the SALT, or portage or specialist help you need for the next year or so. Take each day as it comes and delight in each small step of progress.

((((hugs)))) This is a grieving process and you must be kind to yourself.

hazeyjane Sun 19-Jun-11 21:36:28

Hayley, I really don't know what to say (although Ellenjane, says it all really). I hope you are ok, it is so much to take in, even if you had some idea already. Just remember that there are people on here who will be thinking of you and holding your hand on the 5th July.

We are seeing one of the paeds on the 4th July for some of the results of the blood tests, and because he would like us to see a muscle specialist in Oxford.

In the meantime, we have had the results back from ds's hip x-ray, which showed they were 'normal' - Yay!

Firsttimer7259 Wed 22-Jun-11 11:56:22

Hello again. Its been a while. Ive seen a number of you about while I've been lurking and wondering whats up with my girl.
Sending you lots of hugs Hayley How are you doing?
Wondering also how you are doing hazey in terms of digesting your team around the child meeting.

Thanks so much for the link to the cheap Hanen EllenJane. Ive been wanting to buy this but put off by the price Its about £80 on amazon. Im off to buy it after this post.

Wanted to give you a bit of background on us: at 6 months the HV was a bit concerned cos my daughter wasnt tracking objects. At the time I poo poo'd it. It felt inconceivable to me. When she was born I felt like she was the most perfect thing I'd ever seen.
Slowly I realised that the ways in which she was different from other children could mean there was something wrong. She was so serene and placid, not constantly on the go. By 9 months I started wondering. She was just about sitting up, smiled and laughed, but had little interest in objects or in getting about. Also she didnt really exchange gestures or copy or mimic. I spoke to GP and got a referral. With xmas etc it took until she was 14 months before we saw someone. By then I really was starting to wonder what was up as it was becoming increasingly obvious her development was behind.

Anyway when the pead first said yes we should look into this I felt relieved. Before that I was worried I was this totally neurotic mum. Everyone I raised the matter with was always, but 'she seems so normal', 'they all go at their own pace' etc etc. Including my husband who was a bit annoyed at me 'criticizing' DD. But soon enough the 'fear' set in.

The fear involves lots of googling medical conditions and symptoms(not recommended) constant lurking on discussion forums hoping someone will post something that looks a bit like what we are going through, much much crying (especially after meetings with other babies and seeing more and more how far we are falling behind), and the 4 am worrying hour (what else can I do, what on earth could it be, is it our fault)

Now we have had one follow up appt. Nothings been found so far but we are still waiting on the genetic results back (its been 3 months), Its agonising. Her eeg was normal as were other blood results. We are now booked in for an MRI and a hearing test. Also getting physio and waiting on OT and SLT. I am finding it harder and harder. I find I feel increasingly judged at playgroups and perhaps even among friends or family. I am so overwhelmed by the SN boards, the treatments, the acronyms. I am trying to leave some of this behind for now. I have this great book on functional learning by Katrin Stroh. We do exercises out of that because it seems sensible and that has coincided with DD making leaps in progress. Plus the physio has been showing us how to help her get in the right positions to work towards crawling. So I am trying to concentrate on being her mum and not panicking.

OK thats long..sorry to hijack...but thats us. And I will try to check in often to see how you all are

Hayley16 Thu 23-Jun-11 21:07:15

Hi Everyone
Thanks for your kind support smile Been a hard week. If anything i think my own silly thoughts have made it worse. Been thinking the worst of everything & not looking & the positives. Think now its time to just forget about the sadness of my ds not being where he should be and enjoy him for who he is.

Firsttimer7259 sounds like you have been through a lot sad it really is a very hard thing to deal with. I always feel this strange sense of guilt with my ds, almost like the reason he has his delay is because of me. Im not sure why i feel it because i do try hard with him & things that just came naturally with my dd arnt coming naturally with my ds. I think there is a big lack of understanding amongst other people when it comes to developmental delay. All people keep saying to me is ooo he will catch up & i wish people would just relised its not a case of just catching up its more serious than that.
How old is your dd? sorry if you have mentioned it i just couldnt see it. Do they eat & speak ok or do they have delays there too?

hazeyjane Tue 28-Jun-11 10:35:34

Hello, just wanted to check in and see if everyone is ok, and see if anyone else out there needed a hand hold!

Ds is ill with a chest infection, we have to go into drs daily to have it listened to, because gp thinks the recurrent chest problems may be part of whatever is causing his delay. He is 1 next week, and I realise that all we have done for such a large chunk of his life so far is focus on what he can't do, and worry about what may be wrong with him.

So here is a list of things he can do!

Sit with a wobble for a few minutes

Pull his blam-blam (blanket!) off his face to play peepo

shake a maraca

laugh like crazy at anything his sisters do

turn one chocolate button into an entire chocolate face mask

melt hearts with his smilesmile

Hope everybody and their lo's are ok.

kellbell82 Wed 29-Jun-11 23:45:50

hi i hope u don't mind me joining my name is kelly and my youngest ds is 17months and has development delays so far we have found out he has something called exetosis which is extra bone growths and are seeing someone next month about it, we have seen the pead twice and he is useless not giving us any idea why his so far behind and its making us sick with worry as i'm sure you would all know, his just started to sit up but still falls back now and then he rolls around but only stays on front for seconds so his far from crawling yet he seems to have weak trunk but stiff legs and his feet curl over alot , we are seeing physio and ot and got a great little chair for him today and one to go in the bath , his such a happy little boy and loves to point saying alot more words , so if you don't mind i really need a hand to hold as stating to struggle with it all. kelly x

hazeyjane Thu 30-Jun-11 16:01:55

Hello Kelly. I'm glad you came onto the thread for a handhold. It is very hard when there is a lack of support. We seem to have seen tons of drs and paeds, physios etc, but I have spent the day chasing up a SALT referral that was made months ago, and the 3 different offices haven't heard of ds, so frustrating.

Are the bone growths in one specific area? Has you ds had any blood tests or any diagnostic tests yet? The waiting is horrible, but at least something is being done. Your ds sounds as though his speech is ok, which is good. Does he have any brothers and sisters?

Firsttimer7259 Thu 30-Jun-11 17:29:32

Oh kelly hope you are doing alright. Fingers crossed you see someone useful soon.

Well done Hazey on the positive list. Made me try to see things differentky too. I often feel I need to try to switch more into being my girl's mum again and stop diagnosing her. That includes just enjoying the good stuff.

How are you Hayley? My girl is almost 17 months now. Almost crawling. developmental delays across the board so she's like a 10 month old at present. Tho I would say her communication is further behind than that.

I am not coping at the mo. H is incapacitated. He's very ill and can barely walk. I left tired a long time ago. Dont really know how to deal with it all. I know I am currently in some kind of shock state but cant bring myself to care. Just go about ticking off the things on the to do list muttering about keeping going. We have nanny starting soon so if I can just make it til then I will hopefully get a bit more time to deal with myself after that (altho that ios when I am supposed to be working)

kellbell82 Fri 01-Jul-11 15:37:26

hi hazeyjane ds has growths on his left wrist , left shoulder blade and left rib we are seeing someone in london on the 12th july so hoping they can give us more info , his had lots of blood tests which all came back ok his waiting to have a mri and a scan on his kidneys , his speech is getting better can say about six words and babbles alot also loves pointing sounds like his saying whats that , i have 3 more children dd 12 , ds 10 , ds 2 so very busy house lol but i love it , i hope you get somewhere with SALT soon it must be very frustrating for you x thanx firsttimer we are really hoping the we see someone more useful in july its just does your head in with all the waiting and not knowing , sounds like your dd is near the same age as my ds thats great that she is nearly crawling , sorry your not coping at the mo does sound like your having a hard time with it all hope you find time to rest soon when the nanny starts x

ilovesprouts Sat 02-Jul-11 20:27:24

its a long jurney ds2 is now 4.7 this has been going on since 9m and still no dx

Firsttimer7259 Mon 04-Jul-11 10:02:35

Hi just a quick post. I made it through weekend and nanny is here. Cant believe i now wait for Monday with the same desperation I used to reserve for payday!
Kelly my sympathies on the bone growths. Lovely he's so chatty tho, I hope there is something they can do.
Hazey do you have anther nvestigation this week. I have all things crossed for you. Its crazy how long you wait. We are still waiting on chromozome results from 3 months ago!
Anyway my H got a dx of MS on Friday. Somehow we were just relieved to finally have it. He's getting better again, can move a bit better and his speech is improving again. I cant believe I am doing this on both ends of the scale at the moment. My main wish currenlt is that I had come out of the pregnancy a bit fitter and stronger. I dont feel physically up to the challenge of caring fr both of them.

hazeyjane Mon 04-Jul-11 14:55:52

Ds's genetics tests have come back normal and the Big Bad Thing that the drs were worried about (spinal muscular atrophy) is all clear!!!!!!!

On googling sma, dh and I are hugely relieved. Please join us in a toast to ds, with a glass of fizzy water/wine later.

We still have the mri scan to come, but we'll worry about that later.

Firsttimer, so sorry that you are having such a hard time, with dh being ill.

kellbell82 Mon 04-Jul-11 17:53:45

thats great news hazeyjane :-) i will have a glass or 2 for ur ds x.

ilovesprouts Mon 04-Jul-11 20:31:13

we are on a list for ddd test and array gch test but we have to wait for funding

Hayley16 Tue 05-Jul-11 21:10:07

Hi all
Had DS craniofacial app today. Nt gr8 news sad He has 2 types of different structral problems with his skull. They would like 2 operate bt due to him having heart problems the risk of him dying is alot higher sad How can i send my DS for surgery knowing he mite not return?? We have been booked in for an emergency mri scan which should tell us more about whether it is totally essential to do this operation. Never felt so lost & alone ever.
I hope every1 else is ok
Hazeyjane
so pleased ur results came bk ok smile Do u have a date for mri yet? We have just got DS enrolled on another dna research programme. Hopefully now hes on 2 we mite get some news.
kellbell82
sounds like ur having a hard time. Hope ur bearing up ok. Hope when u go to london you get some answers
Firsttimer7259
Hope your coping better now you have your nanny. Sounds like you have a lot on your plates

On a recent trip to our local hosp i came across a leaflet about a place called brainwave. not sure if anyone has looked into it but looks like a fab place for children with developmental problems. There is a charge for going but looks worth it if you can afford. They have 3 centres across the uk. Luckily one is close to us so is something im definatly going to consider with ds at some point.

hazeyjane Wed 06-Jul-11 11:09:28

Hayley, I can't really post now, as ds is crying, but I just wanted to say how sad I was reading your post, and send you a hug and say I am thinking of you.

I will come back an post more later, please have a moan/cry/rant on here. hopefully we can walk along next to you at this very tough time.

Firsttimer7259 Wed 06-Jul-11 19:35:46

Oh Hayley I am so sorry to hear your news. I am not sure what to hope for in terms of MRI etc but hope you get comfort and support from somewhere. I am thinking of you.

Happy to hear some good news too Hazey hears to you wine

Chin up all round

PS: many many thanks to person who posted the link to the budget Hanen (was somewhere earlier on this thread). I have had 'It takes two to talk' now for about a week. Read a miniscule bit of it so far. (I collapse into bed v v early these days). Its giving me really good ideas and helping me to interact with DD whihc is a revelation. Will describe a bit more another day. Too tired right now, but I have found it really good.

Firsttimer7259 Thu 07-Jul-11 17:17:04

Hayley are you alright? Hope you check in soon. Hope you are coping.

kellbell82 Thu 07-Jul-11 17:24:20

hi hayley hope your ok so sorry to hear your news hope you don't have to wait long for the mri big hugs to you x.

hanbee Thu 07-Jul-11 20:51:27

Hi everyone

Firstly, Hayley was so sorry to read your post. I can't imagine what you're going through at the mo. Hope you're ok.

My DS1 is 2.9 and development delays. Finally got a referral at 10 months as he was still not babbling despite my talking yo HV and GP on several occasions about his development/open mouthed posture/dribbling. Was referred to SALT and for feeding assessment when seen by paed at 12m, all other areas measured late side of normal. Crawled at 13 months.

Waited 9 months for feeding assessment by which time I had found ways to help him cope with lumps and manage finger foods. Waited 15m for SALT appointment.

Saw paed again at 18m when he was still not walking. Had a blood test for muscular dystrophy which was negative. Referred to physio and for piedro boots.

Finallly walked at 23m. Still v limited language but loves to communicate and starting to sign a fair bit.
He also has mild horners syndrome which may or not be related to his delays.

I keep a notebook which I list all the new things he has learned that month, keeps me trying to focus on the positives and makes me realise how many new things he actually does do each month.

anon1110 Thu 07-Jul-11 21:28:29

Hi Hayley,

Just read your post and hope your ok.

Hoping the mri goes well for your DS. Hopefully you will get good news and theres no pressure in his head (which I think is unusual given his age)

Did they say that they could do the op at a later date? May give your DS a chance of being stronger for the op?

My DS had a fused skull and we went through with the op, so know how hard it is watching and feeling helpless.

hazeyjane Sat 09-Jul-11 10:37:19

Hayley, hope you are ok, let us know how you are getting on. The waiting and wondering is so hard especially when you are trying to get on with day to day stuff with your dcs. Thinking of you.

Hayley16 Sat 09-Jul-11 20:35:20

Hi all
Thanks for the support smile
Im doing ok. Had a few hard days after, just constantly on my mind but im just taking it all one day at a time. I just really need wednesday to come so i can find out whats going on. I think its the not knowing that is the hardest.
I just have so many questions i want to ask them that i never thort to ask at the time. They said there was an increased risk of him dying but i was so taken back by hearing this that i didn't even think to ask what sort of percentage it would be of him making it through the op ok. Also if its his hole in his heart that they are worried about causing problems during the op can't they just close the hole?
I just feel so lost with him atm. Hes having such a hard time. Hes totally covered in eczma, he has hurrendous nappy rash that i just cant shift, his eating is getting worse (drinks about 50ml of an 210ml bottle then wants no more & he barely takes ne solids) & still can't get him to sit up unaided.
Hope every1 else is well

anon1110 Sat 09-Jul-11 21:29:38

Hi Hayley,

If I were you I'd make a list of everything you want to know, cos when you are in the room with the pro's its so easy to forget what you want to ask, happened many times with me! What they told you was a shock, so understandable that you didnt hear much else, make sure you take someone with you too incase if you miss anything.

Have you tried metanium for his nappy rash, my DS had it terrible when he was younger, to the stage where it looked like he had been burned with acid! couple of days with that it was much better.

Sounds like you need a hug, hope things pick up for you and your DS soon x

LadyLou30 Mon 18-Jul-11 21:36:09

Hello i'm new to mumsnet and trying to find somewhere we fit in. We are waiting test results again. My son who is one was diagnosed with low muscle tone or hypotonia when he was 6 days old after me insisting something wasn't quite right. We had all the initial testing including karotype and all came back normal, we've had physio since he was 4.5 months and i'm not sure how much its helped. We have a neurologist and geneticist who are trying to find a cause for my boys low muscle tone. He is a little behind - was sitting at 6 months unsupported, rolling both ways at 10.5 months, he's been able to weight bear on his legs since quite early but he's quite rigid with it but he does and can bounce. He trys to bum shuffle but just ends up bouncing in the air, he can lift his bottom off the ground, the only time he moves forwad withit is in the bath! He's not tried to crawl and can't get from tummy to sitting or from sitting to tummy, unless he falls over, but he is good on his tummy when he's on it and lifts his chest off the ground. He reaches and plays with his toys, he smiles and giggles and is very engaged with the world around him.
i must have read about 100 stories of babies/children with hypotonia and they rarely seem to find a cause, not for many years anyway or without more symtoms which my son just doesn't seem to have. He is a good feeder and has weaned beautifully. I think they might be testing his muscles now although i'm not sure?
I'm really hoping he is just delayed and doesn't have something awful sad

Hayley16 Thu 21-Jul-11 10:08:17

We still havnt heard anything back about what the scanned showed sad She did say they did clinics every monday where they looked at the mris. Might have to wait till next monday now.

Hi Ladylou30. I have no experience with hypotonia but sounds like you & ds have been through alot. I hope someone on her can offer you more support.

If anybody is on facebook theres a great site called SWAN(Syndromes without a name) The people on it are all awaiting diagnosis & they share their stories & pictures of there DC. Theres lots of support & advice. Its a great website. Definatly worth joining.

http://www.facebook.com/#!/groups/205554229483224?ap=1

Firsttimer7259 Fri 22-Jul-11 10:23:13

Hi Hayley, anything yet?
Welcome Ladylou. On hypotonia I dont really know anything except that when my girl had her first pead assessment at 14 months they said she was hypotonic, at second appt they revoked this as she'd gotten much stronger. They were surprised at her progress by second meeting. But maybe this means she never had it in the first place??
We have first SALT today, nervous. She is making so much progress that I feel much more confident its not something truly terrible but I just looked at the CHAT test again, shes almost 18 months and found myself welling up. We are so far from meeting some of these tests...We have an MRI booked for next tuesday to look at the structure of her brain and the suspense is hideous.

Good luck to us all and to our weeuns

SelinaKyle Fri 22-Jul-11 13:28:48

My DS has recently been diagnosed as dyspraxic and on the autistic spectrum. I say "Diagnosed" but it involved a woman with a computer with tick boxes on it asking us really useless questions for about two fucking hours. We are still waiting to see Occupational Health to find out what can be done with him to help him develop stronger physically, as he is finding it very hard to keep up with the other children at school.

hanbee Fri 22-Jul-11 21:18:49

Hi everyone,

DS1 (2.9 years) most recent assessment from the paediatrician arrived today and it says he has significant motor delays and speech delay. sad

They're going to review in the autumn and arrange further tests to see if they can find a reason for his delay.

On a more positive note. I've found him an excellent preschool which he starts in September, he had two taster sessions there this week and seemed to really enjoy himself. He was knackered afterwards though, bless him! Whilst there today he was visited by the senior area early years SENCO who has said he can portage (paediatrician said not), she has given the preschool a form to apply for extra funding to get him a one to one and has said he would more than likely be able to attend the child development centre preschool next year. Not sure if it makes me feel happy or sad...

hazeyjane Mon 25-Jul-11 09:22:38

Hello everyone, any news on scan yet, Hayley?

LadyLou, have they done any tests (genetics etc)? Ds has low muscle tone and developmental delay, and so far the genetics test have come back normal, so we are waiting for an MRI, and ds has been referred to a muscle specialist.

He has just started sitting in the last 2 weeks (when he turned 1), it has made a huge difference in him. He has started showing much more interest in toys, and actually getting frustrated (his lack of interest in anything used to worry me a lot). He gets tired very very quickly though, and I seem to spend half my day carrying him around, snuggled into me.

He has just been awarded a place at a sn nursery starting in Sept, I will go to, and it is very focused on play therapy, as ds's paeds think this will be hugely helpful to him

Hope everyone is ok, and enjoying the start of the Summer holidays!

Firsttimer7259 Wed 27-Jul-11 10:22:36

Hi Hazey that sounds really good. For the girl the point where she started showing an interest in her surroundings really marked a big change. It meant she had the motivation to learn new things so she could explore and that made a big difference

The nursery place will be good too. You must be tired. Its hard caring for a baby for so long. I am just starting to notice the toll it took on me to have a child who remained really a baby until recently (she has just started crawling!!!). Its tiring to carry them always, and to get so little back from the input you put in. Our girl was very blank for a long time. Smiles and things but quite unresponsive and it was exhausting. I kept telling myself that toddlers are tiring too, but I think it is different to have a baby for a really long time

Firsttimer7259 Wed 27-Jul-11 10:28:47

BTW we have now had first SALT (good) we are being booked into Hanen course. Plus therapist thinks the girl is sociable which will help in learning language as she will be motivated to do this. DD was titally gorgeous at the appt I must say. Smiling, giggling, eye contact everywhere. I was so happy!
We had the MRI yesterday, need to wait 2 weeks for results. I am quaking a bit in my boots as everything has been improving so much that I am terrified that we get some bad news after all. I know that doesnt make sense really. But its the superstitious part of me now wanting to count my chickens I guess.
I realise more and more how stressful this is. The on going worry and the sadness. Watching and waiting and wishing you didn't feel so completely powerless when something goes wrong with the person you love most in all the world. I have gone through some tough times in my life but nothing matches up to this. Nothing

Firsttimer7259 Fri 29-Jul-11 09:05:32

Anyone still here??

hanbee Fri 29-Jul-11 10:13:01

Hi firsttimer, I replied but my phone had a wobbly and refused to send my message! Your last post really got to me, I feel exactly the same. DS1 is my first child and his development problems meant that my first two years of parenting were less than happy. I struggled as a first time mum to get anyone to take my concerns seriously (health professionals and family). I got a lot of patronising pats on my shoulder and felt I got an overly anxious mother label at the hv clinic. I had to fight to get him referred and even when I did we had a year of procrastinating even though he was getting further behind. Even now when support for him is coming together at 2.9yrs I still feel bitter about the time we lost.

Since having DS2 I've become painfully aware of what I missed out on with DS1, enjoying each new development that just seems to happen and not with stacks of input, worry, tears and relief. I don't feel I will ever relax and enjoy parenting as I might have done with a different first experience. I do feel a bit robbed even though I love DS1 hugely.

hazeyjane Fri 29-Jul-11 10:49:34

Sorry, I am still here, but struggling with the Summer Holidays! Trying to keep my dds happy while carrying ds around (he is out of whack with the different routine, and won't sleep, but is tired from the new effort that sitting requires!)

So this morning i have deemed as a day of just letting the dds watch tv, and eat snacks and ds is finally asleep (he was up at 4.30, as was I!)

How was your dd after the MRI, Firsttimer? Did she have a general? Ds is booked in for one, but he has been moved off the urgent list, so we may have to wait as long as Christmas, before he has it. 2 weeks wait isn't too bad, but i know that every second waiting for results feels like a lifetime. Do you have any inkling as to whether they will find anything?

Ds had a 'funny turn' (pretty far from funny though) the other evening, rigid, screaming, sweaty, my instant thought was that he was having a fit of some sort, or that it is tied in with the fact that his SALT thinks he may be aspirating. The dr didn't really know what to think, but told me to monitor it if it happens again, and to not feel scared to call an ambulance.

It really feels as though we are creeping through a dark forest, sometimes the way seems clear, and we have a little ray of moonlight coming through the trees, and it seems like things aren't so scary after all. Then the moon goes behind a cloud, and the trees thicken, and all we can do is cling on to each other and hope we don't stumble.

The whole process is exhausting, despite the amazing support we have received so far, it must be even worse if you have really had to fight for the support.

kellbell82 Sat 30-Jul-11 10:39:38

hi everyone , sorry your all not having a good time with it all at the mo it must be so stressful and worrying , HAZEY that must of been very scary for you i hope you don't have to go through that again x. we have been very busy with lots of appointments they said ds's boney lumps have got nothing to do with his development delays and that they would keep an eye on him as the one in his wrist is making one bone shorter then the other and will cause probs so will need ops in the future , his physio is worried as his development is so slow and thinks it could be cerabal palsy which i was thinking but is hard when you get someone saying it to you just need to get the pead to dx it , the physio also thinks he might not ever walk unadid and that is the thing that has really got to me sad she said she will up the physio so am hoping that helps and we start to see improvement and he is starting oppatunity classes in sep so i have hope with all the help that he will get better cause all you can have is hope when you just don't know what the future holds for our little uns xx. n

Firsttimer7259 Sat 30-Jul-11 11:14:40

Hi all, sorry about the stressful experiences around, esp hazey and kell. I hope you get the support and help you need right now. I am so so sad inside and its so difficult to find a place to let it out because I need to keep going. I dont know how you find the balance when you have an ongoing worry about your child like we all do. Anyway I wish you all a little space to look after yourselves this weekend.

Hayley16 Sun 31-Jul-11 11:21:34

sad So sorry to hear that everyone is having such a hard time. I really hope things start to look up soon sad Think its about time we all had some good news & our dc had a break.
We have still heard nothing about our mri results & whether ds will need this op. We find out 2moro so i will come back & post then as i dont have much time now.
I did mention in my previous post about the SWAN support group. I use it via facebook but they do have a seperate page. It has lots of childrens stories on about their conditions. I sat down last week & wrote my ds story up & it really helped me put everything thats happened in place. If anyone is after any extra support the group is great & they are all so helpful.
Here is the link to the website & my ds story on there.

http://swanuk.wordpress.com/2011/07/26/freddies-story/

ilovesprouts Sun 31-Jul-11 23:00:50

.

hazeyjane Mon 01-Aug-11 08:13:05

Hayley, good luck today with finding out the results of mri. I hope you get some answers, and feel able to move forward from there. Thankyou for posting the link, I started having a read last night, and then ds woke up! Your little boy looks adorable.

Apart from ds's funny turn last week, things here are pretty good. Ds is doing well, sitting and playing and is enjoying having his sisters around all the time. I think that when ds is ill, or the day seems relentless with carrying ds and doing physio and worrying about him feeding etc then i spend more time on the why, why, why. When we are pootling along like this I spend less time worrying and can enjoy ds for the little cutie he is!

Firsttimer7259 Mon 01-Aug-11 11:05:42

What a lovely chappie Hayley!! Such a sweetie, I loved seeing the pictures of him getting more and more smiley as I scrolled down. Cried over your story, its very factual and controlled but I really know how much it hurts to be on this journey.

Hayley16 Tue 02-Aug-11 11:07:00

So mad!
Freddie had his MRI 3 weeks ago & for the past 2 weeks the craniofacial nurse has said she would ring us to tell us whether Freddies needs an op on his skull. We found out last week they hadn't even looked at his results yet & they were finally looking at them yesterday. I spent all day waiting by the phone for the call & by 3pm i gave up waiting & rang them. The nurse i needed to speak to wasn't availble but i was told she would call back....she didn't.
Rang this morning & spoke to receptionist who told me the nurse is now in clinic all day so i won't find out at least until tomorrow. She says they had arranged for us to go back in for a meeting with neurologist but its not till the 13th Sept!
I don't think they realise the stress not knowing is causing. I feel so angry with them for leaving me in the dark.

hazeyjane Tue 02-Aug-11 21:40:16

Oh hayley, how bloody frustrating, i am angry on your behalf. I hope you get some progress tomorrow, and are able to push for an earlier date than Sept 13th.

hanbee Wed 03-Aug-11 16:02:30

Hayley that is so rubbish. I think sometimes health professionals seem to forget that we are people with feelings and that although theyre dealing with AN Other patient that it's peoples lives that their attitude affects.

Here DS1 has just had his first visit from new physio. She came to our home and did a fairly thorough assessment but measured him at between 12-14 months generally with some areas further ahead. He's 33 months sad.

She also said she feels he has something more than dyspraxia and it's likely to be a spontaneously occurring genetic issue sadsadsad.

Firsttimer7259 Thu 04-Aug-11 10:38:53

Grrrrr on your behalf Hayley.

Hanbee Im really sorry that you have had this bad news. Is this being investigated? Its difficult to deal with peoples 'probables' (good or bad). I have my fingers crossed that the physio is mistaken.

hanbee Thu 04-Aug-11 20:38:34

The plan is to refer him for tests in the autumn: I think MRI for brain damage and bloods for genetics etc. I felt really down about it since, stupid as it doesn't change anything but I was surprise she thought he was that behind. He's been walking for nearly 11 months now and I thought the average age for starting up walk was 14 months?! He's climbing a bit, onto my bed, a low sofa etc. I really thought he'd be around 18 months at worst sad.

kellbell82 Tue 09-Aug-11 09:35:42

hi everyone hope you are all ok x i'm feeling very stressed at the mo i don't know if its the way i'm feeling but peoples comments seem to be really getting to me if ds just sits abit longer then they say oh his doing really well i'm sure there is nothing wrong with him and i'm like yeah alot of 18month olds are just learning to sit i know people are trying to be postive but come on , my dh went to look at his sis cooker the other day as not been working and her dh said you just don't know how stressed i have been over it ( i wish i only had to stress over a cooker lol) and then his sis said if i was ok as i seem quiet at the mo and he said well we have got alot going on with ds and our older ds as his being statmented as his very behind at school so having appointments about that and to top it off i'm going in to have my gallbladder out on fri so feeling abit worried about that , i'm sorry for the rant just think i'm having a bad week and don't know anyone that know how i feel, i sure hope we all get some postive news soon big hugs to you all x

1980Sport Tue 09-Aug-11 12:24:36

Hi, I haven't been on this thread for ages. I've 'chatted' to some of you on other threads tho! I had a quick catch up, sorry so many of you are having a crap time sad

We've reached the end of the line with testing and we've fingers crossed that DS is going to get on to DDD. We're in NI and we always seem to be the last to do anything!

If it's of interest to anyone, we had the microarray done privately at TDL lab - the results were back in 6 weeks and the cost was £500, a lot of money but not as horrendous as we thought it was going to be. I was really struggling with the wait and knowing that the array was available but we couldn't access it so I'm glad we got it done even if it didn't provide any answers!

Anyway - hope you are all well, stay strong x

hanbee Tue 09-Aug-11 17:42:58

Kellbell - I've also had a lot of "he's fine! I'm sure he'll catch up!"; mainly from my in laws. Whilst I found it massively annoying, and also not very understanding of my concerns and the stress we were under I believe that it was/is their way of protecting themselves. They don't want anything to be wrong and this helps them believe it. Problem is you need some support and other peoples seemingly denying there's a problem also denies any right to needing additional support. Mind you I guess it's hard to know what to say to people in our situation.

used2bthin Tue 09-Aug-11 21:22:03

hi all, I am on the genetic thread and "know some of you from that or others but thought I'd join after reading the last page and realising there are others waiting for MRI's etc.

DD nearly five hs a genetic condition she was diagniosed with at birth so we've had five years of appointemnts, hospital and a fair bit of worry then she was diagnosed last year with specific language impairment too. After a couple of funny turns an eeg was done and it indicated epilepsy so due to this and dd's very small head we are awaiting a neurology appointment and MRI and various genetic and metabolic tests.

Lots of sympathy with the waiting for results that take ages. I hasd a similar story to you Hayley for the eeg and the ecg that was before that. Its impossible to function normally for days on end it just draws the whole thing out.

Verahaspurpletwuntypants Mon 15-Aug-11 18:03:11

Can someone hold my hand for a while please?

Dd2 is deaf, we know that much at least. Profound on one side and a rare loss (reverse cookie bite) on the other side.

Had loads of tests, bloods, ECG, general eye test, MRI done. All came back normal.

Not being referred for assessment for ASD, and more blood tests (from bloods already taken) and ERG on her eyes again.
And trying to get to the route of her balance problems.

I am absolutely dreading it being usher syndrome. made the mistake of looking it up. And desperately trying to talk myself out of thinking that it is obvious that it is Usher.

<worried emoticon>

1980Sport Mon 15-Aug-11 19:13:09

Hi Vera - I'll hold your hand! Has someone suggested Usher Syndrome to you or did you find it yourself? Google can be great but it can be out own worst enemies too! Don't forget what you read on the Internet is often the very worst case scenarios written in very stark medical type words - behind the diagnosis there's happy, smiley children! I spent a good couple of months living on google trying to diagnosis my DS, one syndrome was suggested and it seemed to fit perfectly, however the test came back negative! I think the good thing about having an idea about what it may be means you can prepare yourself and it's not such a shock! What age is your DD?

Verahaspurpletwuntypants Mon 15-Aug-11 19:50:05

They've spoken about ruling it out. Because of her balance problems. And I know I'm just getting hypercondrial about it. I could have sworn the MRI would have shown something, I was prepared for that, but it didn't. And now I'm just over reacting. I know I am.
I think it's because I was expecting some answers today, but didn't actually get any.
Dd is 3.

1980Sport Mon 15-Aug-11 21:25:34

Ruling out sounds more like they don't think it is?!

I was expecting a brain damage result from the MRI too - after a long labour ending in him getting stuck and forceps! It's horrible waiting for all the results, building yourself up and then nothing! And if you were expecting answers today that's even more of a let down! Things will calm down in the next few days, no point telling you not to google I think I sat up until the early hours one morning looking at endless photos and comparing my DS!

Chundle Mon 15-Aug-11 21:45:54

Hi all thought I'd join you! Dd2 is 2 been at CDC for a year. Pyshologist says she's fine and it's basically down to my parenting (don't get me started), paed says possible dyspraxia and asd traits. Private salt says verbal dyspraxia not really any signs of asd.
Me?? Well I'm banging my head against tue wall and drinking vinosmile

1980Sport Mon 15-Aug-11 21:58:54

Nightmare chundle! I suppose that leaves you in limbo land not being able to access thd proper support! I'll join you with the vino, my DH is off this week (I'm still on mat leave) so I feel like I'm on my holidays too!! Sitting eating toblerone and drinking wine!

Firsttimer7259 Wed 17-Aug-11 10:47:04

Well the MRI results are in. DD has some white areas on her brain, they think its a normal variation but we need to do it again in a year to be sure. Aaaaargh! I was so hoping that the MRI scan would give us a straight up normal cos she's been making loads of progress. I know this is still a normal but its just not nice and clear. I really wanted something to hold on to as an 'at least thats ok'.

Anyway all the blood work so far has been clear.

how are you all doing? I find that (amazingly) I have somehow developed the ability to switch off from all this. Life goes on, we wait, we get happy about progress, sometimes we get a bit sad when we see her peers racing ahead but...its our new 'normal'.

Hayley16 Wed 17-Aug-11 10:56:27

Hi all
Thought id check back in & see how everyone is doing smile
Managed to stop stressing over the mri results & have just put it to the back of my mind smile well sort of...i am still counting down the days! Only 27 more to go!
We have been waiting near enough a year to get freddies heart rescanned & we ended up missing the appointment. We hadn't recieved a letter to say he was meant to be having it & now they cant see us again until 3rd october! So more waiting.
Im starting to get slightly concerned over DS behaviour. Im worried hes showing signs of autism. Does anyone have any experience of this? I found a checklist on google for signs of it. These are the signs hes showing -
•Does not consistently respond to his/her name.
•Cannot tell you what he/she wants with words or gestures.
•Doesn’t follow directions.
•Seems to be deaf at times.
•Seems to hear sometimes, but not others.
•Doesn’t point or wave bye-bye (past 15 months) or use other gestures such as shaking his head “yes” or “no” appropriately and back and forth in conversation
•Has odd movement patterns such as flapping arms or shaking body, especially when excited
•Seems hyperactive much of the time; is always “on the go.”
•Doesn’t know how to play with toys. Might spin or line them up excessively.
•Doesn’t smile when smiled at.
•Seems to prefer to play alone.
•Seems to be in his/her “own world.”
•Shows very little interest in other children
•Has delayed speech-language skills when compared to other children of the same age
•Is a very picky eater. May eat only 3 or 4 different foods.
Going to mention it to paediatrican when we see them on the 5th sept but i don't know if they would look into it until hes older.
Hes also very noise sensitive at the minute. Which is a total nightmare with having a noise 2 yr old in the house to!

hanbee
Im shocked that they think your ds is only at 12-14 mnths. You would think with him being up & about & walking he would be at an older age. I hope you get some answers soon

chundle
Cant believe some people have put your dds problems down to your parenting. I always felt like that when ds was a baby like maybe it was my fault & i wasnt spending enough time with him its an awful feeling & must of been made even worse for you by someone actually saying it to you sad

I hope everyone else out there are ok & are getting the help they all need x

EllenJaneisnotmyname Wed 17-Aug-11 12:49:58

I'm just a lurker, smile but wanted to respond.

Firsttimer, it sounds like you're handling things very well. I can certainly empathise with the 'new normal!' But it doesn't stop things getting on top of you sometimes. A whole year to wait to for the next brain scan sounds awful. I suppose it needs to be that long to see what changes?

Hayley, you do have a lot of red flags there. My DS2 has ASD, but it is a developmental disorder, which means that some things are more delayed than others. So the signs you are seeing may mean GDD if more than one thing is delayed but if other aspects are developing more quickly it may be ASD. You can also have ASD co-morbid (together with) other DXs. Sorry not to be more reassuring. Do ask your Paed.

I haven't read the whole thread, just dipped in to recommend some Hanen books earlier. How old is your DS? It's always worth writing your concerns down and maybe keeping a diary of behaviours to discuss with your Paed. If you have things in writing it makes it easier to remember everything during an appointment. I would always get a bit emotional then find I'd forgotten what I wanted to say. blush Your Paed won't be able to DX ASD without more time and observations and maybe a multi disciplinary team of other professionals.

In the meantime, I think it's generally accepted than treating your DS as if he does have ASD won't harm him if he doesn't. Have you had a look at the Hanen book, 'More than Words?' It's similar to 'It Takes 2 to Talk' but from an ASD perspective. I'm not sure how different it is to It takes 2 but it was my bible in the early days. (DS2 is 11)

Chundle Wed 17-Aug-11 13:37:11

Thanks guys. I expected to be blamed a bit for dd1 during her ADHD dx but I never got any of that then! It's just with dd2 they question the way I play with her ffs but you need to co-operate! But at least we hav portage starting in september

EllenJaneisnotmyname Wed 17-Aug-11 13:47:42

Gosh, Chundle. I hadn't read back, but that's horrible. It's going back to the 1950's terminology of refrigerator mothers! The lust of dyspraxic traits has so much crossover with ASD, it seems strange to mention one and rule out the other this early. The psychologist is obviously too used to seeing parenting problems, the Paed is the one I'd go with.

EllenJaneisnotmyname Wed 17-Aug-11 13:48:55

Oops, list not lust. blush

used2bthin Thu 18-Aug-11 08:50:55

hi all, just posting very quickly as am off to work but wondered if anyone would mind telling me about how long you have had to wait for appointments etc. I was talking to a friend last night who is a nurse and she was horrified at the gap I've had between being told dd's eeg is abnormal and seeing a neurologist. I was told end of june and the appointment is two weeks time. So around a ten week wait I think and all the time wondering what the abnormal result means and what they are looking for on the mri which will be october. I rang and said oct is too long can I see the neurologist before that which is how we got the aug appointment but I think my friend felt that if I'd complained more we could hasve been seen sooner. It is and has been a horrible wait but I thought it was probably just how it is, what do you think?

BTW I did speak to dd's hosp consultant and she gave a bit more of an idea about whats happening and said to tell her about any episodes dd has and she would see if the neurologist would bring the appointment forward. Of course nothing much has happened.

Verahaspurpletwuntypants Thu 18-Aug-11 09:04:03

6 months for pead
4 months for salt
3 months for original audiology
3 months for ECG and bloods
4 months for MRI with general
3 months for results

hanbee Thu 18-Aug-11 10:34:40

Wait times seem to vary from one area to the next. In our old area we waited:
2 months for paed
2 months for physio
15 months for SALT
9 months for feeding assessment
3 months for orthotist (piedro boots)

In our new area we waited
2 months paed
3 months SALT but got a group makaton course within a couple of weeks
A few weeks for physio
Still waiting for orthotist and hearing check, 2 months to date.

used2bthin Thu 18-Aug-11 17:41:03

Thank you for that. It does vary doesn't it?! We only waited a few weeks for SALT but they did say that was just luck and usually its months. 4 months is around the MRI wait we will have had. But 3 months after the MRI for the MRI results?!! That must have been awful and I need to check with the neurologist how long ours is as I have just been willing october to come so I can know more-actually it could be longer.

1980Sport Thu 18-Aug-11 19:07:30

3 months to Paed
3 months from Paed to Dev Paed & Team (SLT, OT, Physio)
3 months to MRI - 4 weeks to results
Mostly 3 months for any further blood results
EEG & Genectics referrals were very quick 4 & 6 weeks
Chair - 4 months
Wheelchair - looks like it'll be about 6 months

crazycatlady Thu 18-Aug-11 19:24:52

Hello, I recognise some friendly faces from the genetics thread smile.

hanbee you mentioned that you've moved areas, how did you manage this with all the referrals and appointments etc?

We've just started on this long road with DS (5 months) who is developmentally delayed, has reduced tone, some dysmorphic features, we're not sure how good his hearing and vision is, has torticollis and plagiocephaly, and hypospadias. We suspect it's something chromosomal although no-one will say as much.

Saw paed for the first time in the first week of August. We now have referrals for neurology, genetics, MRI, physiotherapy, the lot really... but we're moving in October and I'm not sure what the best course of action is. Paed said we can stay under his care at the Evelina (St Thomas's) if we want even after we move as we'll only be 30 mins away on the train, but if DS is needing twice weekly physio, and then OT and SALT to come I'd rather do these locally in Surrey where we are moving to.

Any tips?

Chundle Thu 18-Aug-11 19:29:41

I'm going to stick with paed Ellen and try to ditch the pysch somehow! Lol.
Gosh our waits here are 9 months physio and 3 years OT!

hanbee Thu 18-Aug-11 21:09:12

Hi everyone

Crazycatlady - moving and the referrals were hard to manage. We made it difficult for ourselves as we moved twice in 3 months - Buckinghamshire to Worcestershire to Cornwall!! When we arrived in Cornwall I immediately got a doctor and requested the health visitor came asap so I could get her to make referrals, I also made an appointment to see the GP so he was aware of our situation he chased the referrals up. It did mean that we probably missed out on about 4/5 months of support but figured our new life would be so much better for our DCs that it was worth the difficulties that caused.

crazycatlady Thu 18-Aug-11 21:44:45

Oh my goodness, hanbee we're doing almost the same as you, but not quite as quickly. We're moving out of London to live with family in Surrey, then all moving on together as soon as we can find a big family place in, you guessed it... Cornwall! We are looking to be somewhere between Liskeard, Bodmin and Wadebridge.

DS's arrival and our realising that he's likely to have some additional challenges in life has been a huge catalyst to us getting our arses in gear and making the move.

Have you found the system and infrastructure in Cornwall is well set out to providing for your child's needs? That's my one concern moving away from the south east where we have very easy access to care and a lot of choice.

hanbee Thu 18-Aug-11 22:01:06

Crazycatlady you may well end up not far from me. Pm me when you move down!

So far I've found Cornwall excellent. There is less choice in terms of special schools or area resource bases but what there is is very good. The childrens centres have oasis groups for families with children with additional needs and these are regularly visited by SALTs and parent to parent reps. I've found them excellent and a great informal source of advice and support.

I think a smaller population means that although you have to travel for things waiting time, time you get with people and the quality of care as everyone is less stretched, seems better. A more active outdoor life is also a massive bonus and is helping DS1 progress with his motor skills.

used2bthin Thu 18-Aug-11 22:43:48

Oh my goodness 4 weeks wait for you for the MRI result too. I have no idea what made me think that it would be quick considering my experiences but I thought we'd find out the results almost immediately. I will ask the neurologist about it.

DD had an MRI before we were disharged after she was born. We had the results three days later by phone! That wasn't a brain MRI though and it was one thing they were checking for so maybe different. Oh dear this is going to take up this year then really in terms of diagnoses and results.

We have moved earlier in the year and are moving again soon-hopefully we will stay in the next place. We've been in the same county and still some of our professionals have changed due to area boundaries. Its been ok though, hard work but wasn't a way around it really.

Firsttimer7259 Fri 19-Aug-11 11:26:25

Hi Ellen I wanted to thank you for the link to the cheap Hanen, it has been excellent!
The wait seems long but its more that the diagnosis is to compare the 2 MRIs and also look at her progress over the year. I think that if the areas were not normal she wouldnt be making progress. We are still waiting on something in writing so this is over the phone.

We had initial visit from visiting teaching service today. They will come every fortnight for a bit and help us develop play and activities for babygirl. I think it will be good. I am sometimes a bit clueless as to what to try with her.

We had physio yesterday, again good. they are trying to get us on to cruising now.
Its all good but I always feel so flat afterwards. I think because she's making so much progress part of me is hoping they'll just say 'she's fine now you don't need any more help.' I know thats not the case, shes still delayed but.....I am starting to have this theory in my head that she was tired and bored at 9-12 months (she had trouble with her sleep then) after that she had a nasty ear infection which possibly affected her balance. So the delay is just due to that...is that even possible???

The other part of me thinks, she has LDs (just like my sister who has dyslexia and LDs). So she'll catch up developmentally and yep shes smart but when it comes to school she'll struggle just like my sis did. Maybe by catching it this early we can help her more and keep her self esteem more intact than if she spends the first years of school failing at everything. But its a long road ahead.

In terms of waiting here's our experience:
1st Pead: 5 months (but there were some mix ups)
Physio 2.5 months
SaLT 1 months
VST: 2 months
Blood tests: Ive lost count but lnger than 8 weeks for first lot
MRI: 16 days till called for results and got them verbally
Time from booking to MRI scan: 1 month
Occupatinal therapist: still waiting
we now have 2-3 months between pead appts

EllenJaneisnotmyname Fri 19-Aug-11 13:20:35

Hi firsttimer. I think my sanity was preserved by not looking too far ahead. Just the next year or next milestone. What ifs aren't much help and scaring yourself looking far into the future isn't constructive either. Have a plan but only short to medium term, is my advice. Your visiting advisory teachers sound like portage. Good for giving you ideas how to improve development through play. I'm glad the Hanen is being useful. It became like second nature to me after a while, getting learning opportunities in any situation. smile

hanbee Fri 19-Aug-11 14:12:57

EllenJane - really good advice smile. I just wish I could always remember to follow it!!

EllenJaneisnotmyname Fri 19-Aug-11 16:06:34

Hi Hanbee. Can't say I always follow it myself! blush

hanbee Fri 19-Aug-11 20:40:42

Oh and had another visit from the physio, she's coming every two weeks which was more than I expected. She has given between 13-16 months for DS1s motor skills not 12-14 as she said last time. Still behind by loads but I'm just viewing it as a benchmark against which to measure progress.

Got next appointment with SALT, 2 months after the last one but she's coming to us - yay!

used2bthin Fri 19-Aug-11 21:57:26

firstimer, it is a lot to get your head around and tbh the one minute thinking things are really not that major and the next thinking this is forever are things I have had on and off for a few years now, I think it is natural to worry about the future but really good advice to just look as far as the next year- I am going to do that too.

Thanks re waiting times. I think that the wait we have had is not abnormal. The problem is that after having the possible diagnosis by letter, we've not spoken to the neurologist who analysed it and ordered the MRI so don't really have much idea what he is thinking. Perhaps its just as well though!

used2bthin Fri 19-Aug-11 21:58:32

We meaning me and DP. And the rest of the family for that matter, its tough on everyone and I tend to play it down to my parents as they are worriers at the best of times.

Firsttimer7259 Fri 19-Aug-11 22:43:02

Hi all, weird day, I guess I have spent it wondering about DD and how the next few years will be. Wondering about her toys, her abilities and all of it. As tho I could just think or research my way out of this. Meetings with the professionals tend to leave me feeling high and dry like this. I get all excited thinking I am going to learn something about how to interact with DD or have something revealed as to what's going on with her and why. And then nothing...by which I dont mean nothing happens or that the professionals are somehow failing us. They are not and I must say that my experiences have been really good so far.

But nothing as in progress is incremental, no one is going to come up with some great big answer, or great big solution. I guess people on here know that all too well (and I appreciate the advice) but it takes me ages to get back into a zone where I am coping with this but not ignoring it.

So my big question to you all: how do you deal??

1980Sport Fri 19-Aug-11 22:58:39

I cope by not looking too far ahead, trying to have something small but nice to look forward to every few weeks, balancing healthy and unhealthy research as in looking up new exercises/games etc v looking up random syndromes and then just keeping up with all the exercises! And of course, you guys really help me cope - thank you btw smile

Used 2 I have to manage my pils - they are massive worriers! I've sat hugging mil while she's crying her eyes out thinking 'really is this how it's supposed to be' and they still haven't faced up to the fact there is no magic cure!

crazycatlady Sat 20-Aug-11 10:17:22

thanks for the Cornwall advice hanbee, will definitely pm you when we move. It could be a while though! We're starting to property hunt in the new year I think.

I've been having a bit of a black week this week thinking about the future and how many unknowns there are about DS's development. Which is silly given that he has had two major 'firsts' this week - 1) holding his head up properly when sitting supported and 2) reaching up for toys when lying on his back. Until now I've had to really help him with his head while sitting, and put toys v close to him as his sensory issues mean he hates reaching out far away from his body.

I know he's only 5 months, but I am trying to keep him somewhat in the realms of 'typical' development as much as we can, while we can. It's hard work. All the things that typical children just do naturally, he needs to be coaxed and helped and taught, gently and patiently...

firsttimer I felt totally emotionally drained and a bit lost after we'd seen the paediatrician. It's like it interrupted the natural course of our lives somehow and all the enjoyment we have with DS is swept aside and replaced with the stark language of scary medical journals. I felt a little disconnected from him afterwards. Didn't last long but it's horrid.

Having the move to look forward to, and feeling like we are making some progress with DS's physio is helping. Having you lot to talk to is brilliant smile.

used2bthin Sat 20-Aug-11 19:11:04

1980 yes my mum is very like that, I have to be careful how much I say and she tends to outworry me-thinking further ahead than me and coming up with what ifs that haven't occured to me yet! It should be the other way around definately! When she was driving me mad after dd was born and diagnosed with the genetic thing my friend said that my mum was experiencing the worry doubly-worry for me and worry for dd which is probably true. Still annoyong though!

firstimer I totally get what you mean about appointments, its a bit of an adrenaline rush. I am feeling like that about the neurology and mri appointments but have to keep reminding myself that they won't be the end of this even if we get a diagnosis. Research really keepss me going I can always tell when I am positive about things as I will be researching and doing therapies. As opposed to googling conditions till 2am or just pretending there is no issue!

hanbee Sat 20-Aug-11 21:37:13

Hi everyone

I've just downloaded a load of the early support documents from the internet. You may have already heard or seen them but I wish I'd had them earlier. Particularly the development journal which helps record what dcs can do rather than what they can't. Have a look on the department of education website if you haven't already!

1980Sport Sat 20-Aug-11 22:02:38

Used2 - you've just described me to a tee!

used2bthin Sun 21-Aug-11 09:23:53

lol 1980 I thought that when you said about healthy and unhealthy research-its good to know I'm not the only one Or morbid as XP put it when I was doing all this about DD's genetic condition.

Re early support we have the developmental journal. I share it with playgroup and dd's keyworker ticked off some stuff she does there and not at home. I have found myself panicking at all the stuff she can't do too though of course!

hazeyjane Sun 21-Aug-11 12:39:29

Have been away camping for the week (floods and having to walk ds around campsite for a couple of hours a night, so knackering but fun!)

Will catch up with this thread later, hope everyone is ok.

used2bthin Mon 22-Aug-11 19:49:00

Glad you had a good time hazeyjane. DD had a fit last night so been a bad day full of hospital phone calls and doctor and being on here worrying about it. Then got back from dr and had a letter from the geneticist saying dd is missing a very small peice of chromosome 4 so they are going to test XP and my blood to see if it is significant.

Firsttimer7259 Tue 23-Aug-11 11:10:51

Hi used2 saw your other thread about the possible fit. Sounds really scary, hope you have had supportive doctors etc. Wishing you the v best

LadyLou30 Tue 23-Aug-11 11:36:36

Hi ladies
Its been ages since i've been on here, just trying to catch up after a month of holidays and weddings etc I posted a while ago about my son who has low muscle tone with no cause found so far after various genetic testing. Our neurologist has run some more tests, i think specific to his muscles and some of them have come back normal and we just waiting for the rest.

Since i last posted my son has had another physio session and i've asked for him to be seen at least once a month. She was still failry happy with him but gave us some insoles for shoes to be fitted which will hopefully encourage him to feel secure enough to take some supported steps. Have to say though i did go and have a look at shoes but they are so expensive to just 'practice' in and he'll prob be out of them in a few weeks - not sure what to do about that!! Although since he turned 1 he really seems to be progressing (in small ways) but i've def noticed a difference in how he is moving and he now seems to have more confidence in reaching for things. He has taken to bum shuffling, well kind of bouncing to get places - he loves being on hard surfaces as its easy for him smile He is pushing way up on his arms now and has on a few occasions got his hips off the ground too while on his tummy. He is so so so desperate to move bless him.

While we were on holiday in northern ireland we did have to go to Childrens A&E as he was having trouble breathing and a chest xray confirmed a chest infection. It might have just been one of those things all children get but ii've always been worried about his internal muscles, his chest always sounds a little rattely and wheezy but have been told that low muscle tone children are more susceptable to chest infections but that he might be ok as he has a strong cough!! Was very worrying.

Its good to read how you all cope. I'm not coping right now but its not all related to worry about my son, more likely depression and i just feel like a rubbish person in general but i am trying to fight my way through it. Accepted anti depressants as i just want to be in a place i can help myself.

Will try keep more up to date with this thread and get to know you all a bit better smile

Lou xx

hazeyjane Tue 23-Aug-11 12:08:27

LadyLou30, hello, I have pm'd you.

Used2bthin, I have just caught up with your thread, how scary for you. Ds had a 'funny turn' a couple of weeks ago, which the gp thinks could have been a fit, we are seeing the paed next week about it.

crazycatlady Tue 23-Aug-11 18:52:39

used2, sorry to hear about DD's fit. Dealing with that and having the letter from the geneticist all at once is a lot to cope with. How are you feeling about it all now?

When is her MRI booked for?

We just had a call from the hospital. DS's MRI is booked for Thursday next week. Apparently he needs to have a general anaesthetic. Is this right? He's only 5 months old. I'm so worried that if he does have a chromosome problem that he may have an undiagnosed heart condition and his little body won't cope with the general anaesthetic. Suddenly terrified.

Hayley16 Tue 23-Aug-11 21:58:32

Hi crazycatlady

My ds had an mri under general aneathetic a few months ago & he has a hole in his heart & we had no problems. Hope that puts ur mind at rest a bit smile

The whole experience is terrifying i hope it all works out for you

crazycatlady Tue 23-Aug-11 22:41:28

thank you hayley, yes that is reassuring. How long did it take for results after your DS's MRI?

I just keep thinking of his little tiny body in a small hospital gown and getting all choked up. He is so small and vulnerable. I can't bear it. I knew he was going to need an MRI but now it's booked it's real.

I don't know how to get through this. Am trying to keep everything normal for DD who is 2 and a half but it's so hard. All I want to do is spend my time researching info or cuddling DS and hoping if I cuddle him enough all his issues will magically disappear sad.

Feeling very low about it all right now.

Firsttimer7259 Wed 24-Aug-11 11:31:29

Hi crazycat sorry you are having a hard time. FWIW my DD had an MRI a month ago. She was just shy of 18 months so older that yours but I found the concept of her being under anesthetic heartbreaking. In the end it was actually a good day. She loved the hospital staff and the 'attention' as various people came round to check vitals etc. Staff in children's hospitals are, I think, generally just really good at being child friendly. So your wee boy may not really find it all so awful. When they are so young I guess they understand less and so weirdly I think this was easier with my baby than it would be with say a 6 year old who could understand he's in hospital and something serious is going on. My dd just thought the hospital cot and lights and toys were fab.

Doesn't help you really tho. There is all the anxiety and the wishing, whcih I struggle with too. But on the gown, my girl wore her own clothes, just nothing with any metal, buttons. So she had a cute dress with legging on to make me feel better. (this was just specified in the instructions we got for the MRI) Are you sure he'll be in a gown? Check your instructions. Maybe you can put together an outfit for him that's MRI friendly? I know its superficial but it did help me that she didnt look like a patient.

Firsttimer7259 Wed 24-Aug-11 11:34:27

Also remember they do this every day! Every day! not to say its not terrifying as a parent to have your child anesthetised and not to say there aren't risks. But they do this every day.

crazycatlady Wed 24-Aug-11 12:10:18

thanks firsttimer! I think I'll put together an MRI friendly outfit for him and see what they say. On the website it says they'll be in a gown... but if I can find any clothes in his drawer that don't have metal poppers on I'd so much rather he stayed in his own outfit. It does make a difference somehow.

I'm feeling a bit more positive today. Just took DS to the GP to get some eye drops as he has a gunky eye, and he said he seems like a completely different baby to what's written in the 'doom and gloom' paediatrician's report. So that's something I guess.

How long did your DD's MRI take? How was she when she came round from the anaesthetic?

Firsttimer7259 Wed 24-Aug-11 12:51:31

She had her last food at 7 -7.30 (I cant remember exactly) then last drink of water at 11 (?) The scans started at 12, they organised the list by how long the different children could wait. So we had a scan from 2-3, a younger child went before us. I thought the waiting without food would be a nightmare. It was ok, she was so excited she didnt notice! usually she's clamouring for a snack by 10am. Started making some hunger signs at quarter to two but we distracted like crazy.

She was hungry when she came round, had a little food and drink and we left pretty soon after by about 4. They checked she wasnt nauseous etc. It was a long day. H came along too that helped keep it fun and we could alternate looking after her. We went off and had a coffee in a cafe outside while she was down. It would have felt a lot tougher on my own.

It was a brain scan - I think different scans take different amounts of time

In terms of outfits, as well as no poppers also no sparkly motifs etc. Maybe some special PJs?

crazycatlady Wed 24-Aug-11 17:40:38

thanks again firsttimer! It is for a brain scan and I guess since he is only 5 months that he'll be toward the top of the list. We've been told to arrive at 8am.

I was thinking of getting him this to wear on the day and as a special outfit for being a brave boy. Well, really to ease my own guilt at putting my small baby through such a thing!

1980Sport Wed 24-Aug-11 20:49:39

Hi Crazycat - DS's has his MRI at 15 months. The staff at the hospital were amazing, he was the last to be taken. 3 before him so I was panicking that he was going to start getting hungry but in fact he dozed off, so I was able to carry him down to the MRI suite. They administered the anesthetic while I was holding him and they allowed me to help put him onto the bed and get him ready for going in. The hardest bit was walking out of the MRI suite and leaving him, I got very tearful but the Doctor promised me that he'd look after him and have him back up with us as soon as possible. I can't remember how long it was now, maybe an hour - he came round really quickly and had no ill effects. He was in great form, ate and drank straight away. I took the next day off work but there was no need really he was absolutely fine. The results were about 6 weeks and we went up to the hospital to get them.

used2bthin Wed 24-Aug-11 21:36:36

Hi, dd's MRI is on 11th october it feels a life time away. But neurology appointmment next week to discuss meds. What was your dd's turn like hazeyjane?

crazycatlady dds MRI will be her fourth anaesthetic, her first was due to be at six months but kep being cancelled due to colds or her levels being wrong (to do with her genetic condition) so she actually had it at 13months but I remember the stress before hand with her being so small but honestly it has all been fine. She usually is first on the list due to her condition but we were told as a baby she would have been anyway as they often go youngest first.

It is worrying but I think for an MRI it is a short time really. DD had grommets recentl and I was ready for the agonising wait that I'd had for her operations and it just wasn't like that because it was so quick and she just dealt with the aneasthetic so well so I am less worried about the general for the MRI now. I remember the anaesthetist saying to me that the risk is probably less than the one we would be taking on the drive to hospital! I know this doesn't take away the fear and it is still traumatic but it did comfort me a bit. I also tend to buy dd nice stuff for hospital it makes me feel better I know what you mean so I say yes to the pjs they are very cute!

used2bthin Wed 24-Aug-11 21:38:06

sorry hazey I meant your DS!

hazeyjane Wed 24-Aug-11 21:58:32

He was screaming, and his eyes were open and bloodshot, but he often sleeps with his eyes open and he didn't really seem awake. His jaw was clenched, and when i picked him up he was rigid (he has low muscle tone, so he is normally very floppy and heavy). I ran out to the garden with him to call dh in, and we laid him on the floor and loosened his sleep suit, he was freezing but drenched in sweat, and his throat looked swollen (distended?), the scream was kind of a strangled one. It was as though everything was clenched. we were trying to decide whether to call an ambulance, when he started to relax, and go floppy again. It probably only lasted about 10 minutes, but it was very scary. Our gp said it could have been a seizure or fit, or it could have been that he was choking on fluid that had pooled in the back of his throat (he drools a lot) and went into panic. We are seeing his paed next week. He is on a waiting list for an MRI, he was down as an emergency, because there was a fear that he may have spinal muscular atrophy, but his genetics tests and test for SMA came back normal. He has been put back on the normal waiting list, which here is average 6 months wait!

used2bthin Wed 24-Aug-11 22:05:28

That sounds so frightening for you and a long time too. I kwym about rigid/floppy I tried to pick DD up when she was in hers and I couldnt move her then the only reason I knew she was "back" was her body suddenly seemed less rigid.

Long wait for the MRI too then, for us July-oct was us being on the urgent list!

dd also drools a lot btw.

I have felt so anxious at night for dd and feel really aware of how I am with her-not shouty or too busy to do anything which I think I had slipped into a bit with the stres of everything so in a way its actually improved my relationship with her at least for now as she has had some challenging behaviour recently.

Firsttimer7259 Thu 25-Aug-11 23:43:21

crazycat - cute outfit!!! Hope they let him wear it and it makes you smile

hazey - that sounds beyond terrifying

Goodnight all, far too tired to post longer, hope you are all ok

Hayley16 Sat 27-Aug-11 20:17:09

Crazycatlady
We are still waiting for results sad Taking forever. For us the results will help docs see whether DS needs a skull op so very scary sad

Hazeyjane
Sounds like a horrible experience with ds sad You must feel very worried about it. I hope you get some answers soon.

We got ds tot stander last week. He totally hates it sad Physio wants him to go in a few times a day for 5 mins each time but he cries so much & gets so sweaty & worked up i feel awful doing it. Anyone else ever used a tot stander? Im hoping he might get used to it eventually but i just can't see it happening.

hazeyjane Sat 27-Aug-11 20:34:08

Is it something like this, Hayley. Ds is supposed to have one delivered next week, his physio thought it would be good because ds is getting frustrated with sitting, but not moving. He likes us to stand him up, but is wobbly, and it is killing my back. He has also been fitted for some Piedro boots too, to wear when in the support. I'm sorry to hear your little boy doesn't like it. Have you talked to physio about ways to try and encourage him to enjoy it more?

We are seeing paed next week, so hopefully things may get moving a little more on our referrals and tests.

Sorry you ar having such a long and horrible wait, any idea of when results may come back?

Hayley16 Sat 27-Aug-11 21:49:04

No that looks alot nicer than ours! ours is more like this

http://www.google.co.uk/imgres?q=leckey+standing+frame&um=1&hl=en&sa=N&rlz=1C1SKPL_enGB446GB446&biw=1024&bih=677&tbm=isch&tbnid=Br2yyt1ImrzygM:&imgrefurl=http://ellieedayoung.blogspot.com/2010/09/ellies-new-standing-frame-leckey.html&docid=EwwLaArZGnMJzM&w=1128&h=1600&ei=PFdZTtC7AcOv8QPx_fzJDA&zoom=1&iact=rc&dur=157&page=1&tbnh=128&tbnw=90&start=0&ndsp=26&ved=1t:429,r:14,s:0&tx=75&ty=27

(not sure if that works i dnt no how to post links!)

We are hopefully get some type of boots for him at some point to as he holds his feet funny. DS problem is he doesnt want to stand. He doesn't bare any weight & being put in this frame takes alot of effort for him. Not spoke to physio yet. shes out in a few weeks to see how we are doing.
We get out results on the 13th sept! So nervous. Got a big craniofacial meeting to discuss his development & the results then we all decide about the op.
Hope you get somewhere when you see paed.

hazeyjane Sun 28-Aug-11 21:19:15

13th September, soon, but not soon enough! I know just how long it feels waiting for these things.

Your stand does look a lot more complicated than the one we're getting. It must be very hard having to make him do something that he really doesn't like. how is he with sitting? I think with ds they want to find positions that he is happy to play in, so he was happy sitting, but now gets a bit frustrated, he hates being on his back and tummy, he can't roll or move, but as soon as you stand him on his feet he just grins from ear to ear - he just can't hold himself up, and his feet point outwards, roll in and are clenched. When the physio measured his feet for boots she said they were the smallest size but the widest fitting, because his feet are so fat, they still look like newborn feet!

Hayley16 Sun 28-Aug-11 22:13:27

Ds feet sound exactly the same - roll in, point outwards & clenched. Do you know when your getting your boots?
DS is happy sitting for about 10-20 mins then he wants to lay back down. Hes happiest laying on his back playing. HATES his tummy alot! Screams the house down as soon as hes put there. I know everyone tells me he will get used to the tot stander eventually but the way he reacts i just don't think he will. Hoping physio might offer us a different one for him with more support.

hazeyjane Tue 30-Aug-11 10:52:17

We might be able to pick them up on Thurs when we see his paed, or they may bring them over when they deliver the monkey stander. Ds hates being on his tummy too, we have tried laying him on a ramp so that he can play, but his physio said he needs to be on his tummy trying to push up on his arms, as his arms (and trunk) are where he really lacks strength. The best way I have found is to either lie him on my chest, whilst i am propped up on pillows, and to lie him on the bed, whilst I kneel the other side making funny faces, but he will still only manage a couple of minutes at most.

hazeyjane Fri 02-Sep-11 05:24:45

Hello, saw the paed yesterday. He seemed to think that the funny turn, wasn't a fit (although he has referred for an eeg, just in case), but could have been that ds was choking on pooled saliva. He has prescribed patches to help dry up the drool. I was relieved at first that it didn't seem to be a fit, and then when he started talking about ds needing constant supervision incase of it happening again, and what could have happened if we hadn't heard him, I was terrified.

He is going to push for the mri to be bought forward, and also ordered an ecg, because he feels as though ds's heart needs to be checked. Oh and he said he definitely needs a videofluroscopy. I predict lots of hospital trips in the coming months!

How is everybody doing?

Firsttimer7259 Fri 02-Sep-11 12:56:33

Hi everyone just checking in
Hayley i hope its getting easier to use the tot stander.
hazey - sorry you seem to be facing endless tests.
catlady how was the MRI. I really hope you had an alright day of it.

We have just had another therapy session, all a bit vaguely disappointing ho hum...

1980Sport Fri 02-Sep-11 19:08:05

In the early days I had a real sense of disappointment after Physio and OT - it was a bit of a case of is this it??

I've learnt over the months to ask a lot more questions and I've read a lot too so now I actually know what they're talking about iykwim?!

StillinMyPJs Fri 02-Sep-11 23:01:01

Hi Everyone!

hayley I am glad to hear that the paed does not think that the funny turn was a fit. Without I diagnosis I find that I am questioning everything that my ds does because I just do not know if he is predisposed to having seizures or other things. I always go to specialists with long lists of questions and my observations of ds just to check that there isn't something else that I need to be worrying about.

My ds absolutely hated tummy time and once he could roll I spent most of the time stopping him from going back onto his back! I found this really useful wingbo although I wish that I had got it earlier.

Once ds had grown out of the wingbo I found that tummy time was easier if I sat on the floor with my legs in a V shape and placed ds with his knees in between my legs and his tummy over one of my legs with an interesting toy on the other side of my leg. The idea is that you get the child to prop with both arms, whilst still supporting the tummy. If there is a toy with buttons you can try and encourage him to prop with one hand and press a button with the another. Occasionally I also used to hold his knees together to get him used to being in a crawling position.

How often does your ds get physio? When we were not getting enough (and could not afford to pay for any more) I found this book to be really useful. My ds does not have cerebral palsy but I found that this book is a really interesting read as it goes through all of the stages that your child needs to do before walking.

1980Sport Sat 03-Sep-11 08:43:54

That's one of the books I've found helpful too. I wish I'd seen a wingbo before Stillinmypjs, I think DS would be too big now. We're getting a hammock installed soon - basically it hangs from the ceiling almost to the floor and we put DS into it like a sling on his tummy and it takes the weight from his chest through to his feet. His arms are free to play - we tried it at a private OT and he tolerated (almost enjoyed) lying on his tummy playing with the toys in front of him and pushing right up through his arms from his hands (a first). He also tried to use his arms to pull himself forward to reach a toy - I was amazed!

crazycatlady Mon 05-Sep-11 21:37:41

Hi everyone

We're on holiday at the moment in Cornwall. Having a brilliant time and it's so good to get away from all the appointments, daily life etc. But I find myself feeling really sad tonight as, I don't know, I sort of thought 2 weeks by the sea would be some sort of magic bullet for DS and all the new sights, sounds and smells would somehow kick start his development. But of course it hasn't sad. He is as quiet and withdrawn as ever and just lies there unless someone is interacting with him.

He turns 6 months on Thursday and I am dreading it. The older he gets, the more I and others expect him to be doing, and the more obvious it becomes that he's just not doing anything. At all. sad.

He didn't have his MRI last week. We took him in at 8am (after starving him since 4am!) and when the anaesthetist checked him he said his cough was too bad. He's had the first cold of his life these last two weeks and it was just enough for them to refuse to anaesthetise. So we're waiting for another appointment...

hazey, what is a videofluroscopy? Is it a heart scan? Good that his MRI is going to be brought forward. The waiting and wondering is so difficult.

StillinmyPJs, thanks for the link to that book. I'm going to get it I think. I need to feel like I am 'doing something' to help DS every minute of the day. Wingbo looks good too! I like the sound of your hammock 1980. DS would really benefit from something like that I think.

used2bthin Mon 05-Sep-11 22:40:00

Sorry to hear that your DS didn't get his MRI cclady. My Dd was meant to have an investigative op under general at five months and it was cancelled last minute due to her levels being out (condition) then again cancelled at 9 months due to a cold, it was so upsetting and I remember the build up well then the sense if anti climax and frustration at having to go through it again. Did they say they can get you in again soon? I remember when it was cancelled due to a cold I was actually disagreeing with the aneasthetist and saying but she's just teething.He said that stuff round her nose looks green to me!blush

hanbee Mon 12-Sep-11 23:51:24

Hi everyone,

Haven't been on for a while but thought I'd check in! Sorry to hear about the cancelled MRI crazycatlady. frustrating. We're waiting for our paediatrics appointment at which we'll find out what tests DS1 will be referred for. Probably an MRI and genetics so hard to hear about all your waits.

In the meantime though he's starting preschool (so far loves it!), started scribbling/drawing and signing coming on great guns, he's up to around 10 signs now, from about 2 in July, sometimes even joining two together! OK it's always "more" and "biscuit" but it's progress ,right?

Just to keep me on my toes DS2 started walking, he's 10 months. DS1 didn't walk until 23 months so it's like bring a first time parent all over again.

Firsttimer7259 Tue 13-Sep-11 10:21:30

That sounds lovely hanbee. I really cant wait for ou girl to start communicating more with signs or words. At the moment her only word is a plaintive 'mamamama' when she's upset.
We have so much on at the moment in terms of support for her that I am wondering how to fit it all in. On top of physio, SaLT, pead and visiting teaching service we are being offered a Hanen course. I really want to go but its a big time commitment and I am rather time poor. Will investigate if we could squeeze it into husbands schedule instead. Have you ever declined any extra support because you dont know how to fit it in to everything else that needs doing?

mrssouth Thu 15-Sep-11 10:58:51

Hi all,

My DS is 11mths old and is not holding his head up yet, is centrally hypotonic and feeds through a tube over 18hrs a day. We have been in hospital for most of his life and had all the tests going with still no diagnosis. We have everyone involved, SALT, OT, Physio, Geneticist, Neurology was involved but not anymore, paeds etc etc. Really just don't know when anything is going to happen with him as because he took so long to get a feeding regime in place he is only 16lbs now and nearly a year old.
Am currently trying to find someone to come in and help in the mornings as I'm up all night with him and I have another DD just started school.....

hazeyjane Thu 15-Sep-11 12:40:16

Mrssouth, that sounds so hard. Are you getting help from homestart? How about portage? Is your ds fed by tube?

My ds is 14 months, and has gross hypotonia and developmental delays, he has had some genetics tests, which came back clear, and we are waiting for an mri, an eeg, an ecg, and a videofluroscopy. He started sitting at a year, but doesn't move, and I end up spending a lot of the day carrying him. he also is appalling at sleeping, dh and I take it in turns to get up with him as he is up 3-4 hours a night. We have 2 dds (4 and 5) and as you say trying to deal with them and the school run is hard, when you are so tired and having to care for ds too.

Do you have any inklings about what could be at the root of your ds's problems? To have spent so much time in hospital, must have been very difficult with your dd as well.

Hope everyone else is getting on ok.

Firsttimer7259 Wed 21-Sep-11 14:04:57

Thought I would revive this a little. Havent seen anyone around for a bit. I hope you are all doing ok. No real news on our end. Next pead on 4th Oct
I was wondering if anyone had any good source of information, or a good book to read for this current waiting stage. I stop off at the bookshop occasionally wanting to buy a book to help with what we are going through but then dont know what. She has GDD. Shes 19 months now, and about 6 months behind, her recptive langugae seems to me a bit further behind then that. We have pead, physio, SaLT VST and H will be doing a hanen course shortly.
I have a solid educational background and wouldnt be put off reading material aimed at practitioners. But at present I dont know what I need to read about. Or maybe I could read a book about the expereince of lving with SN.

I dont know, I am sometimes so lost with this. Has anyone read anything they would recommend?

crazycatlady Thu 22-Sep-11 20:21:10

hanbee it sounds like your DS has his priorities right with his signing!

mrssouth you must be exhausted. I'm only just now starting to learn about how trunk control is central to so much, including the ability to open your mouth, chew etc... DS is centrally hypotonic too, but to a lesser extent. He's six months so I am trying to introduce him to food and it is not proving that easy. He is willing and keen, but not particularly able.

firsttimer if you come across such a book let me know! I think some of the books aimed at parents with children who have cerebral palsy are quite useful as they are full of ideas and exercises to help children with their development, but I am yet to come across anything more general aimed at parents of children with no diagnosis. There are some interesting blogs out there worth reading, again a lot are CP or children who have a genetic/chromosomal diagnosis... perhaps we should all write a book together about our experiences?

DS had his assessment by the NHS physio at St Thomas's this week. He is being referred for community physio twice weekly and they will also get him a supportive chair as they are worried about curvature of the spine given his poor trunk control. This is good, but also a very visible acknowledgement of DS's issues. I'm thankful for the support of course, but finding it all quite hard at the moment.

SWANUK Mon 03-Oct-11 19:55:38

Hi all, I am Lauren the project coordinator for SWAN UK which is a support project for families of children with undiagnosed genetic conditions / going through the process of diagnosis. We have a growing community of families supporting each other and swapping information about a range of subjects from equipment to tacking part in genetic research studies. If you want to know more about us please check out or project blog www.swanuk.wordpress.com or come and find us on facebook www.facebook.com/SWANchildrenUK. You can also contact me directly on SWAN@geneticalliance.org.uk or 0207 704 3141. Take care and I hope to hear from your soon, Lauren

ihatecbeebies Mon 03-Oct-11 20:03:15

Hi, I've not read the whole thread sorry but I've just started trying to get a diagnosis for DS and feel really overwhelmed and scared. I've no family so I've been hovering about the SN threads for a bit of support.

He has very strong traits of ASD, Aspergers and Dyspraxia. I spoke with the SENCO at the school today who has managed to get me a referal with the educational psychologist and I'll be able to meet with her at the end of the month which is good as before today it wasn't looking like I'd be able to see her and the school would be the ones dealing with everything, even the GP refused to give me a referal when I asked.

Firsttimer7259 Fri 07-Oct-11 11:05:00

Hi ihatecbeebies sorry its gone quiet on here. How old is your child? I hope you are doing ok, its a long slow process with v young ones (my girl is 20months now) maybe a bit faster once they are older.
crazycat did you have the MRI yet? Havent heard from you for a while.

We may be getting something like a diagnosis soon. Some of the blood tests have come back with something abnormal, but not abnormal in teh normal way so the experts are confused. Her brain scan was similarly inconclusive a few months ago.
We have an appointment with a specialist on Monday. I am nervous and tearful but somewhere I realise that this is the first thing that makes sense. My DDs delays are global and when I go through the lists of signs and symptoms for things like dyspraxia, autism and processing disorders she doesnt really fit, her development (such as it is) is very typical in its progression, its just late. The diagnosis now is leaning towards a metabolic disorder - something rare within that group but for me it makes sense to think that a build up of particular chemicals in her brain could be whats slowing down her development.
I am glad we dont have to wait long to see someone. I need to understand what this means soon.

crazycatlady Sun 09-Oct-11 16:06:31

Hi ihatecbeebies. Sorry it's been hard for you to get a referral. Sometimes it can feel like a battle every step of the way with trying to get the right things to happen for our children. Welcome to the thread.

firsttimer DS is booked in for his MRI on Thursday. We saw the paediatrician again last week who said his CGH array had come back normal and the other blood tests didn't show anything other than a thyroid stimulant that was slightly out of balance. He said this could be DS's thyroid taking a bit longer to mature and nothing out of the ordinary. He seemed pleased with DS's progress but warned us to expect a lot more testing and investigation. He is concerned with the lack of tone in his trunk and slow development. He is 7 months and not as interactive as he should be, can only just sit supported in his high chair and no signs of rolling over. Tummy time excellent however and he is very chatty...

He is having his vision tested in November as the paed suspects a problem there. Also neurologist assessment once the MRI is done. I suspect we are moving along a very similar path firsttimer. DS's development pattern is the same. I know what you mean about not really 'fitting' the signs for a number of conditions...

I hope you get some answers tomorrow. I know that nervous feeling all too well. Will be thinking of you tomorrow. Please let us know how you get on

What news from hanbee, 1980, hazey, used2be, mrssouth, hayley? xx

ihatecbeebies Mon 10-Oct-11 11:28:56

Thanks for the welcome smile DS is 4, he's just started school too. I am worried that it will take so long while he is young as the best window of opportuinity for the most effective intervention is when they are young, I keep kicking myself for not realising sooner that there was something more to it than him being a late bloomer. Do any of you know if it is possible to have all three, ASD, AS and Dyspraxia? DS seems to fit into all three, but then some of the traits overlap anyway.

justaboutstillhere Mon 10-Oct-11 11:48:36

ASD and Dyspraxia, yes. AS is a subsection of ASD. Do you mean ADHD?

Firsttimer7259 Mon 10-Oct-11 14:51:16

Hi Crazycat, nice to hear from you. Sorry you are still waiting on the MRI.
Hi ihatecbeebies looks like some of the delay in getting a diagnosis is not your fault. Besides 4 is still early.

We had our appt today, 2 hrs, with neurologist and metabolic specialist. They were v thorough but in the end we dont know much more than we did before. I very much hope that she does not have the more pernicious of these rare disorders. It would be heartbreaking to see her slowly poisoned by her own body, especially as with some there is nothing that can be done. I keep repeating to myself that its a 1 in a million probability.

Otherwise I feel like I have had something of a breakthrough for myself. Two things have finally sunk in. The first is that in the majority of cases there is no cause found and that the most important thing is to continue to observe DD and as long as she is making progress we are in the good zone. (If progress stops or reverses then its a different matter) but at present she is clearly progressing and although she has what they called a 'significant delay' she's progressing and thats the most important thing.
The second thing is that the experts explained that normal is a really sliding scale and somewhere in that explanation I realised that its not really about her being normal for me. I want her to be pain-free, I dont want to lose her to regression or due to seizures, I want her to be able to have an independent life and be able to access the things that make you happy - friends and a job. She doesnt need to ace school work or go to uni. I want her to walk and talk; to be able to make friends and to function in the world without too much frustration. And thats all. Much of that you can have without being normal.

So I am now going to stop looking at development scales and working out where she is in relation to her peers. The specialists are busy working out the possible causes and I am going to let them get on with it. The remedial help she's getting is fine so I just need to get her to her various appointments. We are doing the best we can and I am going to look into getting more supoprt for us becasue we are worn out and then I am going to relax and enjoy my lovely happy smiley little girl.

ihatecbeebies Tue 11-Oct-11 09:32:30

No I meant ASD, I thought AS was a subsection of ASD but after hovering about the threads in the special needs section I had read people saying their children were diagnosed with both so then that's where I got confused confused, so if DS is dx with Aspergers then he has ASD in the form of Aspergers, is that right? And he could possibly have Dyspraxia also?

ihatecbeebies Tue 11-Oct-11 09:35:50

Sorry I'm really new to all of this blush and no doctor has given me the decency to sit down and explain anything with me yet...

justaboutstillhere Tue 11-Oct-11 12:36:03

Yes exactly BUT it is better to get a diagnosis which states both because some places like Social Services will not treat Aspergers as a "proper" disability, and other places think ASD sounds too severe to welcome your child to a mainstream activity, so having "ASD consistent with Aspergers" means you can quote whichever part suits your needs best.

crazycatlady Tue 11-Oct-11 13:25:50

firsttimer I'm so glad they were thorough. Sorry you didn't get more answers.

I share your sentiments exactly about the whole thing. I am bracing myself for the possibility that we may never know what is going on with DS and just have to take it day by day pretty much forever. We have no idea if he will ever walk or talk even so we just need to continue to live our lives and help him the best we can.

It is exhausting dealing with all this and going through the diagnosis process. Wondering. Waiting.

What type of extra support do you think you will be able to get?

We are taking drastic action, selling our house, relocating and moving in with family so we just have more pairs of hands for helping with all of DS's constant physio-through-play needs and ensuring DD also gets her needs met. I'm not going back to my old job. I have closed down my limited company since I can't really work at the moment with all DS's appointments, therapy and his needs at home. So we can't afford our house anymore which is a bit of a bummer. We exchanged contracts yesterday and move into my mum's house at the end of the month.

It is very hard not to worry about the possibility of a degenerative condition. That's also my worst fear for DS.

Firsttimer7259 Tue 11-Oct-11 14:01:19

Hi crazycat that sounds really tough. We realised we needed to spend more on childcare as I find it too tiring to look after her full time and we also needed a bit of time to clock off. So she now has a full time nanny (luckily she came reasonably cheap) and is starting nursery soon. Altho I am now thinking of keeping the nursery part time and keeping nanny for a bit longer. I am worried full time nursery will be too much, the nanny has been great with her. I'm self employed so I manage to fit in appts aroudn my work. Luckily I got a good contract so we are ok for the next year.

I have also gotten in touch with some organisations that support parents. We will meet next week and see how they can help us. They will help us with the Disability Support Allowance forms and see if we can get any financial assistance. I'd like to meet other parents I feel a bit ostracised from the mummies I met during my mat leave. They are kind etc but its not the same and I feel we no longer make the best playdate sadly. Some are better than others. My H is starting a hanen course and I think meeting other parents in similar situations will help us somehow get to grips with what is happening to us.

Firsttimer7259 Tue 11-Oct-11 14:14:58

I had a look back over the thread crazycat, looks like you have more appts than we do. I do find sharing the load makes it easier. I am glad H is doing the hanen and while I want to be at her day time appts at the moment. If her progress continues as it has been I can imagine her doing some of her physio and SALT at nursery. Hope you find something that works for you. I find this can be very all consuming and not in a good way.

I know many parents on here have greater difficulties to contend with but please bear with me (we where there about 6 months ago). Now I see walking (!) is not that far off, and her interest in communicating makes me feel that while she may not talk for a long while yet, I think she will eventually. So I am starting to content myself with that.
As for the possible metabolic disorder (or anything like that) I am deciding not to let it spoil this bit of our lives together.

hazeyjane Wed 12-Oct-11 10:53:16

Hello, just checking in.

Despite not having any further answers, FirstTimer, it sounds as though you have got to a good place at the moment.It also sounds as though your dd is doing really well.

Ds is still waiting on an mri, and ecg and eeg and a videofluroscopy. But at the moment i seem to be able to compartmentalise the medical /diagnosis side, and tuck that away somewhere to worry about another day! Ds has started at special needs nursery 2 morning a week. We go together, and it is hard work, they have speech therapists and physios come in and music therapy every monday. At the moment he is still very clingy to me, and finds some of it overwhelming, but I know it will be so good for him. Personally I find it exhausting, but it feels good to be doing something positive.

We are still waiting for a standing frame, which will help at home, because ds loves to stand against things to play, but I have to stand behind him to hold him in a good position (other wise his legs twist and his feet clench up), it is good for strengthening my thighs, but knackering for my back! He still isn't moving, so gets carried a lot (and he is nearly 12 kg!) but is trying to twist as if to bumshuffle, unfortunately this usually results in him falling on his face!

We are all learning Makaton (our dds put me to shame, learning it so quickly), and I am convinced that ds tried to do the sign for 'more' the other day. At the moment his speech consists of squeals and shrieks, but they are starting to get slightly different intonation to them, and if we keep using the signs, hopefully he will be able to communicate what he wants that bit easier.

I hope everyone else is getting on ok.

Firsttimer7259 Wed 12-Oct-11 11:27:31

Hi hazey Ive been hoping to hear from you. Was wondering how you are. Sounds like its still exhausting. I avoid carrying my daughter downstairs as much as possible now, my knees are so painful. Its these things that are so wearing imo.
Sounds like you are being really proactive and its doing you good just now. Good for you. Hopefully you can schedule a bit of rest for yourself in there somewhere.

justaboutstillhere Wed 12-Oct-11 12:35:00

Just lurking really but wanted to say that my DS1 was amazing at Makaton and I am STILL jealous of how qiuckly he could learn signs.

StillinMyPJs Wed 12-Oct-11 21:36:21

Hi there. We are still plodding along. Genetics have said that there is nothing else that they can test for and they will review in 12 months and Metabolics don't seem to be interested because ds is progressing well.

Firsttimer7259 my ds also shows odd values on a metabolic screen. Not much is known about what he has but I share your sentiments for the future exactly. Ds is certainly very quirky.

I have put ds's name down for an early development program at a special needs school for next year (The school year starts in January here). It'll be 2 days a week with lovely teachers and therapists. I'm sure that he will love it and that he will charm everybody there as he always does.

I have also found a private speech therapist for him as the one we see through the community services does not really connect with him and does not see him frequently enough. I was quite shocked at how much it is going to cost but it will be worth it.

Ds is picking up Makaton well. In a moment of silliness I taught him the signs for 'biscuit' and 'cake' blush He now asks for cake at every opportunity. He also has made up his own signs and always asks for hugs from almost every man he sees! (Doctor, estate agent, swimming teacher) He does give lovely hugs though, sometimes accompanied by a shoulder nibble!

ihatecbeebies Wed 12-Oct-11 22:15:21

That is great news about your DS doing so well with learning Makaton Stillin, I did this with DS when he was younger as he was a slow talker and it worked quite well for us.

Firsttimer will you still be paying the nanny whilst your DC is in nursery? If so could you instead ask the nanny to take her to a playgroup or other mother-toddler group to cut costs a bit?

We had parents night tonight and the teacher told me that both herself and DS's support worker had a meeting with the SALT and suggested another assessment of DC and told me tonight that a referral from SALT would be the best way of getting him assessed for ASD. I don't know how well that will go though as the SALT seems to think DS is fine, she even commented on his eye contact being really good despite him having practically no eye contact at all hmm, even his teacher tonight said his extreme lack of eye contact was definitely a cause for concern.

used2bthin Wed 12-Oct-11 22:50:06

Hi all,not been on this thread for a while but have just had a skim read and it is encouraging to hear how you are all managing. I am trying to be like you firsttimer and think of the positive now and worry later about the rest. DD had her MRI yesterday so I am hoping sort of that that is it for a while.

I say sort of because the geneticist has said that if the MRI result is normal ie no brain abnormality then she will test for metabolic conditions. So am similarly putting the fear of how awful it could be to the back of my mind and just waiting to hear what the results are.

DD has a bit of chromo four missing but it seems to be a red herring as it turns out I do too so it could well be insignificant the geneticist said it is frustrating but not uncommon.

hazeyjane Fri 18-Nov-11 15:54:17

just thought I'd bump the thread, and ask how every one is getting on?

ihatecbeebies Tue 22-Nov-11 21:50:27

Hi Hazey, we're still no further on unfortunately. The SALT said she'd find out about getting referee to both the paediatrician and the autistic diagnostic team but nothing has materialised. The health visitor said she'd get in touch with information about any local support groups but that was weeks ago and still nothing. And the EP still hasn't done her classroom observation on DS and I've no idea when that is happening now.

But a positive thing is since I had a meeting with the HT about DS being sent home all the time, I said i had wanted to find out about having him transferred to a school with an autistic spectrum base as they clearly couldn't cope with him. She said they were coping with him however, and he's not been sent home since.

Firsttimer7259 Wed 23-Nov-11 11:47:47

Hi hazey and ihatecbeebies. We are waiting for a series of bloodtests around peroxisomal disorders. We had a blood test that indicated she might have a form of this and it tallies with her delays. Will take the usual endless amount of time. These disorders are very rare but fatal. I cant even think about how I feel.

hazeyjane Thu 24-Nov-11 14:11:00

hello

ihatecbeebies, how absolutely frustrating that you haven't moved any further forward, what is the next step now?

firsttimer, gosh, that is very worrying, do you have any idea of how long you will have to wait for the results? Is the testing for genetic causes or is it something to do with metabolism?When they were testing ds for spinal muscular atrophy (degenerative, with children not reaching adulthood) the results were through in about 5 weeks, despite them saying it could be longer, they knew what an agonising wait it would be. How is your dd getting on?

We have an appointment with a neurologist in oxford next week, which should be interesting, if odd, because it is almost like going back to the beginning with trying to think of all the questions we have about ds.

Then 2 weeks after that ds has an MRI scan, which I can't bear to think about (hate the thought of ds having general anaesthetic).

Ds has made quite a bit of progress, trying to stand (he also has a standing frame to exercise his core muscles), blowing raspberries and he signed 'more' (we are all learning makaton) he is showing a lot more frustration, which is a good thing, because for a long while he simply showed no interest in anything much. But it is exhausting, I still carry him a lot, he is up for 3 hours a night, and he has had a few more episodes of choking in his sleep. He also seems to get ill all the time, he's had 4 colds in the last month, and he gets them badly, with it affecting his swallow, not sleeping, being very grizzly and unhappy. Dh and I are knackered!

Hayley16 Thu 24-Nov-11 22:37:27

Hi All
Been a long time since i checked this website. I always go on the swan uk facebook group. They really are fab there and do urge you all to go there. The support is amazing.
You all sound like you are having a hard time still as are we. Still no further to a diagnosis and still stuck at baby stage. Heart breaking.

Firsttimer7259 Fri 25-Nov-11 10:00:07

Sending you good vibes and wishes for next week hazey. If it helps at all, we had an MRI done in the summer. I was dreading it, but it wasnt too bad. She had a great day - it was a childrens hospital and they are so good with weeuns so she loved all the attention and had a blast. Also no hospital gown. so she didnt look sick and the whole thing was a lot less traumatic than I feared. My H came with, if I had been alone it would have been a lot tougher. I hope you have a good experience of it too - in as far as these things can be good.
Hi hayley havent seen you for an age. Will try the swan website soon I think. I remember your boy was so cute in the pics you posted.

Hayley16 Fri 25-Nov-11 18:50:17

Definatly do smile Theres about 100 members now who are all there to support each other. We have just started putting together our own youtube videos for the swanuk youtube sight. Heres the one i did for my son. Feel free to take a look
http://www.youtube.com/watch?v=XaLrRfYOd-k
There is also a couple of people going onto itv news to talk about how hard it is to not have a diagnosis. All really positive stuff.

Firsttimer7259 Fri 25-Nov-11 19:16:09

Thats one powerful video hayley. Really well edited too. Caught so much of how I feel.
I urge everyone on this thread to have a look at the youtube link hayley posted above

Firsttimer7259 Mon 28-Nov-11 13:02:13

Some good news (for a change): the tests are back (3 weeks early!!!) and they are NORMAL
I feel indescribably wonderful today.

ihatecbeebies Mon 28-Nov-11 17:00:50

Firsttimer I read your post a few days ago about waiting for the blood tests and tbh didn't know what to say, I just felt so awful thinking about what you were going through, but reading your post today had me smiling, that is great news and you must be over the moon!! smile

ihatecbeebies Mon 28-Nov-11 17:04:53

Hazeyjane Yes really frustrating, I'm going to go back to the GP and ask to be referred to the paediatrician for DS's suspected developmental dyspraxia and then talk to the paed about his autism face to face if I get an appointment rather than having to go through SALT and EP and school for the autism and getting nowhere IYSWIM.

Hayley I've been looking for the Swan facebook group but can't find it, could you post a link for it? Thanks.

Hayley16 Mon 28-Nov-11 20:30:23

http://www.facebook.com/groups/205554229483224/

Try that?

ihatecbeebies Tue 29-Nov-11 00:14:54

Thanks I got it smile

hazeyjane Tue 29-Nov-11 21:34:40

Phew just back from an appointment we had been waiting an age for, with a neurologist at John Radcliffe. It was a hugely stressful morning, from getting the girls ready to drop at a friends so she could take them to school for us, then getting lost on the way to the hospital, not being able to find a parking space, and then having to wait an hour to see him.

He has ordered another raft of tests, tests for metabolic, further genetic tests and he seemed concerned about ds's eyes and bladder function (not something that we had even thought about) he could not believe that ds had not had a videofluroscopy yet with his choking problem, but thought it might be better if I called and made a fuss rather than have the hassle of having to have it in Oxford.

All in all it was a bit inconclusive and I was very nervous asking him all the questions that I had to ask, but he seemed to be thinking along the lines of genetic conditions. He was however surprised by ds's strength for someone who had suffered with very hypotonic muscles previously, he also said he seemed social and interested and good at playing (which is a huge step from a few months ago).

He apologised for not being able to give us a diagnosis (!) and said that we may never get one, which we have kind of come to terms with now. I think we are pleased that ds is making progress, and developing in his own time, but there is this constant worry about underlying issues, eg the eyes and bladder, and the choking thing.

LeninGrad Tue 29-Nov-11 22:23:52

Hi hazey, good news on the progress, how are you feeling? Must have been a long day.

Firsttimer7259 Wed 30-Nov-11 09:33:24

Hi hazey sounds like a tough day but a good appointment. Will you be seeing this consultant again? Good luck with MRI - is that tomorrow? I know its soon, I hope you have a reasonable day of it.

hazeyjane Wed 30-Nov-11 13:53:23

Hello Lenin!

I think dh and I are getting good about focusing on the positive! There is underlying worries about various health issues, and the eyes is a new one to add to the murky angsty corners of my brain. Ds is hard work and our nights are still awful, but the progress makes it all so much easier. How are things with you?

The MRI scan is on the 15th Dec, and the consultant yesterday hopes that we might be able to have some more bloods done for genetic tests at the same time. He has discharged us from the hospital we went to yesterday, but will still see ds by coming down to the hospital where ds is normally seen.

Ds has just had a schedule of growing skills done, which put him overall at around 10 months (he is 17 months now) with a greater delay in visual, cognitive and speech and language. FirstTimer, do you have these or Ruth Griffiths assessments done regularly?

Firsttimer7259 Wed 30-Nov-11 14:09:55

The associate specialist tried to do a griffiths scale assessment with her and it came out really low. About 8 months on average. But I find do her not very good at engaging with my daughter. Shes quite negative throughout the appointments. And then plunks these little cubes down and leaves them - for my DD to ignore...Maybe thats how the test is done...? But she did write in relation to these test scores that DD was not impressed with the testing material.
She has also said that she doesnt think my daughter understands what food is. Which I was really puzzled over. I dont really understand what that means. My daughter eats fine, no weight problems etc Her hunger signals are a bit subtle they are there. Shes not all that fussy yet but she can get stroppy if you make her wait too long for her meal so I really dont know what this she is talking about. She seems a bit wierd in general. I am hoping the peadiatrician will be at the next appt again. She was just better at getting an interaction going.

LeninGrad Wed 30-Nov-11 15:16:49

Hey hazey! Ticking along thanks, we have some help now, makes a big difference. Panel meet tomorrow to decide if they will assess DS1 for help at school, fingers crossed. Some progress lately and some things (sleep, argh!) same as always smile

Firsttimer7259 Wed 07-Dec-11 14:46:49

Its like this every single time. I think I am getting better at dealing, but if I am its incremental progress. I went out last night with my NCT group. They are a nice bunch, not insensitive, the conversation wasn't overly child focused/development focused. I like them I would like to keep up the contact.
BUT it always throws me. All the way there I was thinking about how much/little to say about whats happening with us. I hate always going on about the terrifying crap we are living through. And the evening was good really. They all asked how we are doing but we didnt dwell too long on it. So I didnt feel either ignored or like I am sucking all the air out the room with our traumas.
Just today I have little snippets of conversation about the games they play and nursery rhymes they sing keep whirling around in my head and I just want to cry.
I hate that this is so hard, I hate that I cant seem to get over it, I hate that I am jealous. I am loving my girl at the moment. She's very happy, pleased with herself and fun right now and I have been really enjoying her. PLus we have had all these lovely normal test results back. So its good times really.
I dont know: I want to keep up links to the NT world, but I find often its just so hard.
OK vent over - I am back to work. I hope all of you out there are doing OK.

Firsttimer7259 Wed 07-Dec-11 14:48:49

And breathe....

used2bthin Wed 07-Dec-11 20:11:09

Firsttimer, poor you, I really empathise as I'm sure a lot of us on here do with the feeling slightly out of it in a group-I get like that after too despite, like you, having mum friends who are quite sensitive to DD's issues. It isn't fair so its ok to feel like that.

Hazeyjane we are under a neurologist in Oxford too, we are seeing him again next week in fact and hoping for some answers about DD's MRI. Well, it was clear but hoping for any minute detail really that could give us a clue as to the why questions.

Meanwhile DD is about to be tested for metabolic and organic acid conditions (I think-must re read the letter, been deliberately not reading it properly as I know I will only google what the latest tests are for.

used2bthin Wed 07-Dec-11 21:49:43

oops I did google and went through a lot of conditions-they are testing for various organic and amino acid disorders and MPS. I have found an amino acid one that fits very well with her symptoms. It is degenerative of course. Wish the tests could be back now and not even had them done yet and I expect it will then be while. This is round three genetic tests asthey wanted the MRI results back before testing for these ones.

hazeyjane Thu 08-Dec-11 12:49:23

Firsttimer, sorry to hear you are feeling the way you are. It is very hard isn't it, I have good days and bad days. There was a christmas drinks night for dd1's class last night, I went,and it was fine at first, just a few mums. Then a mum laughed at me for checking my phone, to see if dh had rung, and I said I just wanted to make sure ds was ok. 'Well he'll cope, won't he?' she said, which is true, but if ds is having one of his choking episodes, it is horrible and it can take ages to get him calm and frankly afterwards, dh and I feel quite shaky. Of course I didn't want to go into it all, and i just thought, I have to get out of here, all i want is to go home and check ds, and hug my lovely dh and be with someone who understands.

I have some very good friends, who are very helpful and listen to me when i am worried, but tbh, i don't think anyone really gets it apart from dh.

I am getting myself into a panic about ds getting ill before his MRI scan, which would mean they won't let him have it. Part of me wants to close the doors, coat ds in antibacterial gel and avoid all human contact. The other part of me realises that I have a life, and so am going to the germ factory that is primary school to make Xmas decorations with dd2's class.

Used2bethin, ds is being tested for metabolic disorders as well. I haven't yet googled, although I am sure that in a deep dark corner of the night i will find myself doing so! Is your dr MP?

used2bthin Thu 08-Dec-11 19:40:07

hazeyjane no its Dr M-S if that makes sense! As for the googling I can honestly say that there is not much point-some are dreadful some are almost harmless and others in between and there are soooo many that I think it would be impossible to take them all in and remember it all. I found one which fits with dd very well but am probably completely wrong and hope I am. Its never worth googling just so so hard not to.

hazeyjane Thu 08-Dec-11 21:36:16

yes, when ds was tested to see if he had spinal muscular atrophy, we googled and he ticked all the boxes, but the test came back all clear - even if everything seems to fit, you don't really know until the results come back. Have they said how long you will have to wait?

used2bthin Thu 08-Dec-11 21:50:56

No and we havent even done these bloods or urine samples yet-bet it will be a couple of months it was with the last lot of genetic tests as its not really urgent (to them!). Such a worry after the clear MRI result, which of course was good news but now this.

Re colds and general anaesthetic, dd has a genetic condition that makes her more vulnerable when ill or under physical stress, its quite serious with anaesthetics etc. Having previously had an op cancelled due to her having a cold I was very anxious this last two generals and both times (gromits and MRI) she was just at the end of a cold, this time she coughed all the way to the scan but she still passed the examination and was fit for the anaesthetic. I think as long as its not affecting breathing they do it as the MRI is a short procedure-even for her they let her through so try not to worry too much. I remember dd's first general I kept her in the week before terrifiedof it being cancelled due to ill health again and then went in for her pre op assessment and gah the doctors and nurses were all full of cold!!

hazeyjane Fri 09-Dec-11 14:00:28

Just had a letter through from our meeting in Oxford - does anyone else find that sometimes the letter bears no relation to what was said?!

I feel a bit wobbly and sick reading through the various tests he has suggested, one of them is for prader-willi syndrome, renal and liver, all sorts of amino acids and various words of more than 4 syllables. He also suggests a meeting with a genetic counsellor. On the positive side he says that ds's tone is within the low/normal range, and he has normal power and reflexes.He describes him as having dysmorphic features -hypertelorism, prominent tongue and tapering fingers.

Annoyingly in the letter he seems to have got sight and hearing mixed up, saying that there are concerns about hearing, but not vision - when the opposite was talked about at the meeting.

I am writing this post, to stop myself googling all the long words in the letter - I will wait until dh (who is far more sensible and less panicky than me!) comes home.

StillinMyPJs Fri 09-Dec-11 21:36:34

Hi everyone
I know what you mean about groups. Luckily when we moved cities I started going to a different mothers group where there is a range of ages of children. It has helped me to forget sometimes that ds is different as there are so many different stages of development to see.

Although last weekend I was hurt when a very good friend was saying that the earlier you wean a child, the more open they are to different foods (i.e. less fussy) they are when they are older. I just said that wasn't always the case, all children are different and that ds didn't really start solids until he was 12 months and he will eat anything now. Her reply was along the lines of, 'yes, well that's your ds' implying that my experiences weren't that relevant because ds is so different. It does upset me that sometimes people don't really take what I am saying seriously because he isn't typical.

I think that other people we meet have a hard time understanding what it is like for us because having a child with special needs is something that happens to someone else.

Re testing and googling, we have been in the position twice where geneticists/metabolic specialists have been absolutely convinced that ds had a certain syndrome only for gene tests to come back normal. One case was so unlikely to us as the statistics were incredible! So even the experts can get it wrong. Some metabolic and amino acid disorders are very, very rare and often only the genetic/metabolic specialists have ever heard of them. With ds's amino acid disorder, other people can have the acid in their urine and have no symptoms, but only the worst cases are put in the medical journals.

Onto the good news for us. Ds's current diagnosis means that he may be prone to developing certain conditions, one of those being optic atrophy (a degeneration in the optic nerves - not nice) We went for a second opinion to an ophthalmologist this week and the fantastic news is that he shows no signs of this at all. I am so happy. She suggested patching one eye for an hour a day as the other is is a little lazy and was very impressed that ds knows all of his letters at 3 years old.

He has started cruising around the sofa and will walk holding onto a stick. We are making huge progress (6 months ago it was a mission to get him to stand up holding onto a stick.) He has to learn to walk soon as I am expecting surprise fraternal twins in June. I never do things the easy way! grin

used2bthin Sun 11-Dec-11 21:10:48

hazeyjane poor you, as you know we are waiting for the amino and organic acid ones and mps. DD also has some unusual features according to the geneticist and it isn't nice reading it on paper, she is so pretty and here they are talking about low hairlines etc etc. Not that it was the geneticists fault just always worse on paper. And yes sometimes what they write isn't always true-I am having to ask the neurologist and others to clarify as we have global developmental delay and specific language impairment as two diagnoses on one letter-I thought specific language impairment meant it ISN'T global, argh!

Stillinmypjs I totally get that about friends, I have tried to say reassuringly about dd oh she didn't do x till x age only to get sympathetic looks or alarmed looks because of course in dd's case things weren't quite right! But some of her development is on track so sometimes it is relevant!

The condition I found when I googled is playing on my mind so it is interesting to hear your DS has an amino acid disorder-there seem to be a huge range of them and the affects of them.

The one I thought fitted dd so well is one that causes s and l problems-of which dd has lots! And I don't want to set others off googling but some of the things I had found reassuring about dd's development are not so reassuring with this particular condition and the outcome, although not worst case, would be not great. I know I know though it is so pointless to speculatte.

This testing thing is about to spill over into next year! I am considering ringing the geneticist and asking if there is any way for me to pay to speec up the time it takes to hear results but I bet there isn't without going private completely otherwise everyone'd do it.

Firsttimer7259 Mon 12-Dec-11 10:46:45

Having just been through a hellish rund of tests my only advice is step away from Dr Google. He is NOT your friend. I can't ever follow that advice myself but if I was sensible thats what I would do. Metabolic disorders are such a wide range also that without knowing a bit more goolging is impossible.
Too give you hopw regarding the time our tests came back in 3 weeks (we'd been told the usual 6 weeks (whiche tends to mean 8-10 weeks)

Regarding errors on Drs notes a support charity advised me to get them corrected as this stuff later gets used as evidence in statements, DLA applications etc. I think its just that Drs cant read their own handwriting for some of them. Or have missed out a 'not'. So we get 'she has started waving', when in fact she has not started waving. I havent managed to look into having the notes corrected. So if you can bear it its best to send them some corrections I think

I am so snowed under at the moment that it feels like failure on every front. I am tired, look a complete overweight mess, my work is suffering and I am not meeting deadlines, plus my brain is foggy and I often feel significantly more stupid than I used to be. It feels like a slo-mo breakdown. Part of me wants to be dragged kicking and screaming into the asylum just so I can get a break. But then I think about my girl and that she needs me and I grit my teeth. I dont know how much longer we can keep going like this. We have a months holiday soon and I just hope I will have re-grouped after that. Cant wait to see the end of 2011. Year of Hell.

Firsttimer7259 Mon 12-Dec-11 10:55:32

On googling. I really do think its unhelpful. I am well educated but not a medic and I often find that I have completely scared the crap out of myself reading some thing that has come up after I enter a medical term into google. Medical journals tend to focus on the worst cases etc and I realise when I get a medic to talk me through something that I actually do not have the relevant skills to be able to interpret what I am hearing adequately. I dont know how many of you ahve science backgrounds and whether that helps but I think that this humble social scientist might even make no more googling a new years resolution.

ON that note does anyone have a plan for next year and how to make it better?

used2bthin Mon 12-Dec-11 19:33:32

Oh right there with you on falling behind at work-I just find it so hard to concentrate and its so constant that there is no point mentioning it to work but some times work at least gives me other stuff to worry about I suppose. Am 14 weeks pregnant now and been so ill I have lost loads of weight, instead of looking good I look haggard though and have fallen behind with grooming! Ahh definately feel your pain bet others don't even notice though!

I think trying to have the cliche "me time" really helps, little treats and just trying to get enough rest (ha ha)! Next year I will get married and the party is to be delayed so I am loking forward to it mainly because DP and I will go to a hotel for three nights alone-and SLEEP!!Other than that my resolution is to really knuckle down with the therapy for dd before the baby comes and get organised with the millions of bits of paper we have everywhere.

Good to hear the results were three weeks. I have now asked hospital to do the tests as dd has tricky veins so won't even get them done for two weeks possibly. Life on hold a while longer then!

Hayley16 Tue 13-Dec-11 12:45:57

This made be of interest to some

http://www.itv.com/daybreak/lifestyle/health/undiagnosed-illnesses/?plckItemsPerPage=10&plckFindCommentKey=CommentKey:04ae7fcc-e9ce-487c-b35e-e16450597cea#pluck_comments_list

Swan UK had a piece on daybreak. You may be able to relate to it. Take a look.

hazeyjane Tue 13-Dec-11 13:47:00

Thankyou for the link, Hayley - I'll check it out later. How are you getting on? Has there been any more results for you? And how is your lovely ds?

I have just been to see our gp, who sat and went through the paed's letter with me. She thinks they are casting their net wide, because ds doesn't tick many of the obvious boxes. She is going to make some phonecalls to make sure all the relevant referrals are made and ask that corrections are made to the letter for later reference. (Very good point about corrections - when we applied for dla, one of the physio reports stated that ds was a good sleeper - which is a million miles away from the truth! which meant we couldn't use the report, until it had been corrected).

Ds is now booked in to have his bloods taken next Tues 20th, they seemed keen to get the tests in before Christmas. Fingers crossed that the results won't take too long.

On googling, i know it can be dangerous, but sometimes when you get the letter it is impossible not to. Even my gp didn't understand one of the terms used in the letter (hypertelorism - means increased distance between 2 organs, usually eyes), so I was glad I had googled that one!

I too am exhausted, I don't work, but with ds and the girls life just seems overwhelming at the moment. I think everything that has been going on with ds has suddenly caught up with dh and I, and we both just feel drained by it all.

used2bthin Tue 13-Dec-11 19:51:12

Hope the doctor helped, that is a good idea to go through it all with someone. I'm glad you got the bloods booked in, I managed to get dd booked to have them done tomorrow at hospital as we are there anyway for neurology appointment-feel unprepared for the appointment sobetter sort in my head what I want to find out I guess. The bloods will be tricky as she has very poor veins due to over use and having had to rebook her flu h=jab shot today for thurs as she refused today, its not a good week for it! But the sooner done the sooner we'll both know Hazeyjane, wonder if our resulst will come back same times too..

hazeyjane Wed 14-Dec-11 18:26:51

I hope the blood tests went ok today, used2bethin. Did they have to take much? The list of tests they want to do with ds is huge, I'm worried they're going to need loads, last time it took 3 drs and a phlebotomist to take 4 vials, at one point they tried to squeeze it out of his toe!

Ds has his MRI scan tomorrow, I am dreading it. Mainly the cannula, the fact he won't be able to eat or have milk from midnight onwards and of course the whole general anaesthetic thing. His gp said yesterday that she thought it would probably be clear, and then there is that odd thing of being relieved and frustrated at the lack of answers all at the same time.

used2bthin Wed 14-Dec-11 20:32:13

Oh hazeyjane good luck tomorrow! DD's MRI was fine, really less traumatic than I thought and over fast, 45mins ish from being taken in I think. She felt upset when she came around but then was playing in the playroom within half an hour or so. I asked them to just use gas due to previous problems with blood and getting canullas in. Its not nice but quicker than the canulla then they get the canulla in while she is out.

Today was ok thank you. DD was very very good about the blood (which made me feel awful at how resigned to it she is through having them so often). They only needed one vial and a urine sample as DNA etc was done from samples they already had from her first diagnosis period as a newborn.

I am stillconfused as to whether her developmental issues are neurological, we saw the normalMRI pictures which was weird! And they seemed unsure about her small head size just said they would keep an eye on it. Oh and we have decided to start treatment for the epilepsy which I now feel unsure about so have another thread going.

Firsttimer7259 Thu 15-Dec-11 12:49:17

Am thihnking of you today hazey - hope the MRI is not too bad.

hazeyjane Fri 16-Dec-11 10:53:58

Thankyou

Ds had his MRI scan yesterday, he was a star, having not eaten or drunk since 6 the previous evening, he didn't cry or fuss at all. He was 2nd on the list so although we were at the hospital at 7.30, he went in at 10.30. Holding him whilst they gave him gas (they couldn't find any veins - he has a lot of chubble!) was horrible, feeling the fight go out of his little body, and I was overwhelmed with sobbing when he was wheeled off. Unfortunately he came round before they let us into recovery, so he was beside himself by the time we got there. But it was all fine, and I am so glad it is over.

Used2bethin, I guess they are casting the net wide, as they are with ds, because they don't fit into a particular box. The neurologist we saw, signed ds off, as he said he didn't think his issues were neurological, but he would look at the MRI scan and reassess as necessary. I'm glad the blood tests went well. It must be scary having to deal with epilepsy as well, when did dd start showing signs of epilepsy?

The vagueness of it all is so frustrating. I think lots of people are expecting the MRI to be it, if it is clear then everything is ok, and if it isn't we will have an answer. But it really doesn't work like that, does it, if it is clear, we will still be in a position of not knowing, and ds will still have the issues he has, and if it isn't you can be sure, there will be further testing to narrow things down further. I tried to describe it to a friend, by saying it is like having a door opened hoping to find an answer in that room, only to go into the room and be faced with another 5 doors, and so on and so on.

Anyway, ds is asleep (he is completely out of whack from yesterday, up half the night!), I am writing Christmas cards, baking stollen and there is snow outside, so i am getting into the festive spirit! I hope you all have lovely Christmas's planned, I think we all deserve happy and peaceful ones!

Firsttimer7259 Fri 16-Dec-11 11:46:57

You must be glad thats over hazey. I dont think MRIs are usually definitive. Ours wasn't. They cant tell if what they see is a normal variation or not. Alos they explained that even when they can see things wrong they cant predict the impact. Guh!
Your description with the doors is spot on hazey. I feel like I am going round in a maze. I think the only thing taht would really help is a crystal ball. If I could just get a glimpse of her in the future and know how it will turn out. Thats what I really what to know.
I realise more and more that I need to find a way to lay aside the search for answers. But I cant seem to get there

hazeyjane Fri 16-Dec-11 13:31:07

I know what you mean. The trouble is even if there are some answers, they probably won't be definitive. A friend who has a lo with similar issues to ds, has had genetic results back showing that there is a lengthening of one of the arms of one of the chromosomes, it also has a tiny break. Apparently there is no other case on record of this, so she still has no idea what it could mean for the future of her lo. Her consultant said that all they can do is watch and wait, and provide the best support for each issue as they arise. It is extremely unsettling.

ihatecbeebies Fri 16-Dec-11 15:50:15

I'm in the doctors surgery waiting for an appointment, I'm going to demand a referral to a paediatrician for DS, wish me luck smile

used2bthin Fri 16-Dec-11 20:44:14

Good luck cbeebies!

hazey, glad the MRI is over for you,at least the actual event bit anyway. I think you are right with casting the net wide. DD has had funny turns since she was a baby but the neurologist felt they could be her other condition so didnt want to say epilepsy till the last two which were recent. She had one at three where she just dropped to the floor but no jerking etc the others have also been fairly subtle and so the meds decision was hard and I am regrettig it as I know it will mess with her emotions and sleep-in fact I feel I have possibly made the wrong decision, going to see the GP to talk it over as am just so worried about further disruption esp as we have just got her into a good sleep pattern following months of hell after her steroid dose was upped. Really feeling all this at the moment it is just so relentless.

ihatecbeebies Sat 17-Dec-11 21:30:15

While I was in the waiting room I got a call from the SALT from the private hospital that I had called the previous day. They said their paediatrician was retiring so wasn't taking on any new patients and they couldn't offer me anyone else. She also said they couldn't offer me a diagnosis, it would have to be through the nhs. But I went to the GP and he then started the 'the school are dealing with DS through Ep' line and I said I couldn't wait 6 years which was the estimation they gave me. So he has written a letter to the community paediatrician and I'll hear back in a month so hopefully things are going to start to progress smile

How are you all getting on?

hazeyjane Fri 23-Dec-11 18:46:53

we have the results of the mri in already, all 'normal'. Feel a strange mixture of relief and frustration.

Ds's blood tests were awful, I can't believe how bad they were tbh, and wish they could have done them during his mri. we waited for an hour while they sorted out the forms, then it took 15 minutes for them to get a needle in, then 25 minutes to fill 12 vials (12!!!!!!) and one long thin glass tube, which had to be rushed off to be put on ice. ds screamed so much he seemed to pass out at one point and his hand and the floor were covered in blood by the end. sad

i think the blood test and mri have been fairly traumatic for him, as he is struggling to sleep anywhwere but in my arms, nightmare!

hope everyone is ok, and settling down for a good christmas.smile

hazeyjane Sun 01-Jan-12 19:13:16

just wanted to say, i hope everyone on this thread has had a good xmas and we all have a good new year, hopefully with some answers for our dcs.smile

hanbee Sun 01-Jan-12 19:49:34

Hi

Happy new year everyone, let's hope 2012 proves a happier and easier one for all of us. Sorry I haven't been on the thread for a while, it's been a bit manic in our house lately. On rope of DS1s problems I had surgery in November to remove a tumour and then in December we found that DS2 will need an operation on his kidney. It's all been a bit much tbh.

Hazeyjane, DS1s blood tests were also awful. It took them three attempts to get any blood. He understandably screamed the place down and was really bruised for a week afterwards.

crazycatlady Sun 08-Jan-12 21:17:18

Hi everyone

Just catching up on the thread after a couple of months break. Sorry that none of us appear to be any closer to answers. Hope you all managed to have a good Christmas and New Year.

We have moved house twice since the end of October. It is a bit of a nightmare trying to get all DS's appointments and referrals coordinated across areas! Trying to get his community support sorted is a slow process...

Hazey - we too have had a clear MRI, bar some 'minor delayed myelination'. We have seen the opthalmologist, who declared DS is very long sighted and has a variable convergent squint in both eyes, plus minor nystagmus. The good news is that the back of his eyes look healthy, which apparently means degenerative disease is less likely. Not ruled out (when is anything), but less likely. We have seen the paediatrician twice since October, both times he has retested for elevated thyroid stimulating hormone. I am struggling with what this might mean. And of course no-one seems to be able to/want to tell me.

Neurologist appointment on Tuesday, and we have a referral for a geneticist and a dietician. DS hasn't gained any weight since October which is concerning. He is so small as it is.

I swing from thinking 'isn't he a lovely little boy, aren't we lucky' to sadness and fear. He is 10 months now and still can't sit up. He is so weak in his trunk sad. I know I shouldn't compare, but when did your children reach physical milestones like sitting and rolling? DS can roll, but does it very very rarely!

hazeyjane Mon 09-Jan-12 13:18:16

hello hanbee and crazycatlady.

ds sat at 1 year, and he made a lot of progress when he could sit, showing more of an interest in toys and his truncal strength improved too. He has been standing and trying to walk (with a walker) for the last couple of months (he is 18 months now) - the horrid standing frame helped a lot with developing his core strength. He has only started rolling in the last month and can't crawl at all.

Ds has also been referred to a geneticist and for a chromsomal array. A new paed we saw noticed a few things about ds that led her down the genetics route (mildly dysmorphic features, widely spaced eyes, a preauricular pit, tapering fingers and peeling toenails!). He also has to have tests on his eyes, as there is a slowness there which is hard to pinpoint.

At the moment though the pressing thing is the videofluroscopy and ph probe. Ds was in hospital over xmas with an awful infection, whcich his paed said was wan aspiration infection. As he has acid reflux, he is in danger of damaging his lungs, so we have to get on to it quickly, and so far no-one can agree who should do the referral!

LadyLou30 Mon 09-Jan-12 14:25:35

Happy New Year Everyone!

Not been on in ages either and have almost caught up with whats been going on. No answers here either. We got a letter from our geneticist before xmas to say Luca's hypotonia screen which included a chromosome analysis and microarray are all normal. Mentioned Prader Willi and some other names i can't remember all clear. First time i've had it in writing whats actually been done so will ask some questions at our review meeting in March. Only other thing neurologist could suggest is an MRI but we'll make a decision on that later in the year.

Luca himself is coming on well though, he is now crawling (very fast) and is up on his knees and much happier on the move. He has his piedro boots which has improved his standing and walking. At the moment we are working on getting him to get up onto his feet from kneeling and cruising. However, we have found since he's been crawling he is not as interesting in the learning to walk and just slumps onto his knees to get away! He is a very very busy wee boy!!

I still have my nervous wreck days and frantic googling sessions. My worry now is having more children and not so much Luca now as i''m pretty sure i know whatever he has will be on the mild side. The main symptom he displays is still hypotonia and a few soft dysmorphic features. But perhaps future children will be more severely affected. Again questiosn to ask the geneticist who'll prob burst my bubble!!

hazeyjane Thu 12-Jan-12 12:35:13

Hello ladylou - glad to hear that you and Luca are doing well.Ds was also tested for Prader-Willi, but we haven't had that result back yet. How do you find the Piedro boots, ds hates wearing them, and they are too tight because he has such round feet and fat ankles. He also hates having his feet touched so he screamed the place down when he had his feet measured for a new pair on Tues!

I've just had a shitty morning, so I'm just going to have a moan here, if that is okblush!

We went to ds's special needs nursery and he was so miserable and clinging to me, and the physio there said she had some real concerns about his feet (which his paed has never really mentioned), and he screamed some more because she wanted to have a good look at them. Then the speech and language therapist came over and asked lots of questions about the aspiration infection he had at Christmas, and the upcoming videofluroscopy and ph probe. Then the focus switched to trying to prise him away from me, and the fact that he is so clingy. We have agreed that next time we go i will leave him with a keyworker for a minute whilst I am in another room. The awful thing is he is worse at this nursery than just about anywhere else, and I'm sure it is partly because I dread going there. I feel awful just saying that, but I feel drained physically and emotionally when I come out, and sometimes, like this morning, it is like having several appointments rolled into one. I feel as though we don't have any control over things that happen there, and none of the other parents seem to speak to each other. I know I just have to perservere, and that in the long run it will be of huge benefit to ds, but mornings like this morning just destroy me.

Ok, moan over - how is everyone doing?!

hanbee Sat 21-Jan-12 18:08:18

Hi guys,

Just a quick update that we've had the results from some of DS1s bloods. U&E's ( not sure what that is), creative kinase, thyroid function, ferritin and biotin's all came back normal. Still waiting on the array results.

bigsquiz Sun 22-Jan-12 15:28:32

Dear all,

Another MNetter recommended this thread to me as she thought it might be helpful, and I hope you don't mind me joining, as I am feeling a bit bewildered about treatment for my ds2. Just reading all your previous posts has been so helpful. I don't know anyone personally who has had children with anything similar to mine and I have been feeling quite isolated and worried ( mildly hysterical) and feel that if I mention my worries to friends, they either seem to try and change the subject quickly, look embarrassed and say nothing, or say, it will all be fine, which I find hard.

So, my ds2 is nearly 2 now. He was born with complex club foot (both affected) and a deformed left hand that didn't open up as you would expect.
I had to transfer him to a London hospital for care of his feet as the local team made bit of a mess of them. He walked at 21 months but has no significant movement in either forefoot/toes, so has to wear AFO's in the day (splints to support and protect feet) as well as ponseti boots and bar at night. We don't know if/how much he can feel anything in his toes.
His left hand has opened up but is less dextrous (hope that's the right word) than the right one, and still looks a bit peculiar.

Our physio who cares for his feet had him referred to a neurologist because of his hand being abnormal as well as his feet.

He did have genetic testing at 3 months due to hand, but this showed nothing untoward.

Well the neurologist saw him in November and scared the living daylights out of me, blithely mentioning potential spinal problems that might need investigation under GA, and a myriad of tests and potential tests for other potential rare chromosomal abnormalities.

So ds2 has had bloods done, has a high lactose so that needs repeating, and the neurologist has requested an EMG to be done, which I have heard can be really painful. I am ambivalent about this obviously, as it may or may not be very helpful.

I hate putting him through this and wonder what it's all for in the end. I'm not sure a diagnosis, if we can even get one, will help his mobility that much, but I don't know. I just feel like burying my head in the sand and not dealing with it. The trips to the hospital involve a 5 hr round trip, I have an 8 month old with reflux who is a poor sleeper, my ds2 gets travel sick and I just find it really exhausting. I dread it. and I hate putting him through ECG's, bloods etc when he isn't old enough to know what's going on. I don't know if they're just ruling out stuff or what. The neurologist spoke so fast and in such medispeak I found it hard to keep up.

I know compared to what many of you are going through it's not nearly as hard but it just seems really overwhelmingly stressful to me at times and as I said, I don't feel anyone I know personally gets that.

Forgive me if I'm whingeing, I just really feel the need to let off steam at the moment. Ever since we've seen the neurologist the strain of what's coming up is taking its toll on me.

Thanks for reading if you've got this far and if you can offer any advice/support I would be really grateful.

If anyone else's ds/dd has had an EMG or similar I'd be really grateful for any info on what to expect.

smile

crazycatlady Mon 23-Jan-12 12:04:01

Welcome bigsquiz smile.

You are right, it is overwhelmingly stressful at times. Here is a good place to talk. You are not whingeing. You have an awful lot of stuff to deal with and it is quite a feat to stay on top of it all, both from an organisational and emotional point of view. Just explaining it to others who aren't in your shoes is exhausting.

I'm afraid I don't know anything about the EMG, although I am sure others here will.

Great to hear about the standing and walking hazeyjane! I hope too that DS will sit by the time he is a year (in March). He is getting stronger... The SN nursery sounds like it will be good having access to experts in one place but it's overwhelming enough getting feedback from one at a time let alone all of them at once...no wonder you came away feeling a bit bewildered.

How brilliant about Luca's crawling Ladylou. Sounds like he is doing really well. I share your worry about future children. We'd love to have a third but don't know how we'd manage with another child who needs so much care. I think we will talk to the geneticist (when and if we ever get to see one...) DS's genetics referral is taking forever. He had a chromosome array done months ago that was clear so I guess the geneticist will be looking for something a little more subtle (but not necessarily less serious). I have no idea where to place my expectations for DS. I had thought we might have ruled out the scariest life limiting conditions through his earlier testing but more frantic googling has revealed that perhaps we haven't...

He had surgery at the weekend to repair hypospadias (his wee hole was off centre and the skin on the back of his willy was too tethered). Poor little sausage (no pun intended) has the most enormous dressing and a catheter for the next week and is drugged up to the eyeballs to manage the pain. Our hospital stay was hideous and neither of us had any sleep. Thankfully DD is in nursery today so we can recover and nap a bit. Washing machine has packed up though, brilliant!

And now to get on with planning our move to Cornwall. I was worried that we couldn't make it work with DS, but the more research I do the more excited I get. We are going down in March to househunt grin.

hazeyjane Mon 23-Jan-12 12:45:35

Hello Bigsquiz! I'm glad you found this thread, it is a bewildering time going through all these tests, don't belittle what is going on with you it sounds like an awful lot to deal with (and big sympathies with the refluxy 8 month old!). An EMG has been mentioned by ds's paeds, but they seem to be throwing every test going at him, and I'm not sure the EMG has been mentioned again. Am I right in thinking that it pinpoints particular areas of concern, like a muscle or a hand, apart from that I don't really know much about it. The added stress of having to be seen in London, must be a nightmare on top of everything else.

Hanbee, hello. Glad you have some results back and all is ok. U&E is urea and electrolyte tests, I think it is to do with renal function?

CrazyCatLady, sounds as though you are having a veryexciting time with the move coming up, good luck with the househunt and hope your ds recovers well from his op.

I am preparing myself for a marathon phone session, trying to sort out ds's videofluroscopy, it seems to have halted again, and I am so sick of trying to get the paeds or the salt to sort it, I am going to see if I can 'politely' try to speak to the hospital....deep breath.....

StillinMyPJs Mon 23-Jan-12 22:08:49

Hi all. We are all doing well and DS is making great progress physically and with his speech. This week he started walking pushing along his baby walker. He is a bit too tall for it, but he looks so cute walking!

Results wise, there is nothing new. We have passed from the geneticists to the metabolic team and they seem to have a bit more money for testing and the consultant that we see is more friendly and a little less doom and gloom. We have another blood test to do that the hospital tends to do in these situations which runs through the main known genes that may cause metabolic conditions, but I think that they are still doing this speculatively.

bigsquiz
Welcome! It is hard when the specialists don't appear to think about the impact of what they are saying to you. In the 2 years that ds has been tested for things, we have had some specialists that have not said things in the best way and then there have been others that have been lovely.

My ds was also born with severe club feet, but the general consensus is that it is not related to any condition because my dh's aunt had club feet. His feet are being treated with Ponseti and he still wears the boots and bar at night.

Ds had an EMG last year. It wasn't as bad as I bought it would be. Here, in Australia, you go in as a day surgery case and they give the child gas and air, so ds wasn't really with us when they did the testing. The results were 'normal' and the only bad thing that happened was when ds came round he did the most ENORMOUS, runny poo that went everywhere, through his clothes, over the sheets and I ran out of wipes to clean it all up. I had also forgotten to pack spare trousers (oh the shame!).

We have got to the stage that we have a partial diagnosis, but I am not that bothered anymore about finding out any further as we just seem to be getting into the realms of the even more rare and unknown. The more rare it is, the less a proper diagnosis is going to help us.

Just do the tests that you are comfortable with and that seem necessary at the time. I have resisted an MRI for ds for a long time now because the thought of a GA is just too much and I am even more terrified of the results. As ds is 3 and not walking independently yet I know that any MRI will be 'abnormal' anyway and I can't see how we would change what we are doing with ds. At the moment he is progressing well and I'm happy with where we are although it has taken me quite a while to get to this point.

I've rambled on quite a bit now and need to get on with the day... Take care all!

bigsquiz Tue 24-Jan-12 21:57:16

Thank you so much crazycatlady, hazeyjane and stillinmypjs for your kind and thoughtful words.

crazycatlady I hope your little man is recovering well from his op, and that you're both feeling less tired now. Sounds terribly stressful. I too google stuff, and always come away a nervous wreck. I did it a lot when I was pregnant with ds2 and the club feet were found. It ruined my pregnancy as I couldn't put the thought out of my head that he might have Edward's syndrome or similar. Hope the geneticist can give you some answers about having another baby....my OH was completely stressed out when I became pregnant with ds3 as we were barely coping as it was, and ds2 was only 6 months old. When I went to the gp just before christmas last, he flagged up the fact that ds3 wasn't sitting up at 7 months and said I must come back if he didn't do so by early new year. It sent me into a spiral of catastrophic thinking (which I excel at) but he's just managed it which is a huge relief.

Hi hazeyjane. I very much feel for you re sleep deprivation. It makes the days so so hard. Is there anything the drs can do to help with that, or tell you when it might get better? Reflux is rubbish isn't it. My ds has bed blocks, sleeps on his front, max dose ranitidine, but he's still so uncomfortable sometimes and I'm sure it makes him as wakeful as he is. Yes you're right re the EMG, I think they're looking at nerve conduction specifically in the muscles in his lower legs as there's this query about some kind of lower limb disorder...my OH is much more sanguine about it than me. I feel this terrible angst that I am putting him through something which ultimately will do no good, or just lead to more tests which hurt but don't help. I know that sounds terribly negative.

stillinmypjs great progress with your little man! congratulations! It was lovely I remember when mine made that step... It took him ages to build up the confidence to do it, which was a real issue, also with walking too. He walked for the first time when a friend came round and got him so overexcited he forgot himself, let go of the stair gate and took two steps. I had begun to wonder if he would manage it, and if he did if his gait would be really really odd. I think he'll always need splints, or at least til he's a grown up, but that's not a big deal at all. Thank you for your account of your ds's EMG....made me chuckle as I am notorious for forgetting something vital!! I have to make a list but somehow still manage to miss something. It is good to read that you have reached a point where you are happy with where you are. I think in terms of coping I need to try and be more in the moment, if that makes sense, then I would undoubtedly be more content and focused on good things in the present, and there are plenty with 2 little ones and one big boy, (and I shan't have any more), rather than worrying and catastrophising about potential futures.

Warm wishes to all on this thread, I hope you are all managing to keep your heads above water and that easier days lie ahead.

bigsquiz Wed 25-Jan-12 10:20:21

PShazeyjane Any luck with the video fluroscopy? Seems totally inappropriate and unfair that you have to wait so long in the circumstances

crazycatlady Wed 25-Jan-12 22:32:27

hazey how did you get on speaking to the hospital? It takes a lot of energy to keep on requesting stuff and asking for info doesn't it?

PJs your DS sounds like he is making lovely progress! I am hoping that I will know when I reach the point when enough testing is enough. At the moment I am letting the docs keep on, in the hope that a diagnosis will be helpful, but there is only so much testing I'm willing to put DS through. It is pretty gruelling.

bigsquiz my resolution for the next few weeks is to follow your advice to try and be more 'in the moment'. With planning for such a big move I am trying to second guess what his needs might be in years to come which is probably not that helpful and more than a little bit emotionally fraught.

DS is recovering well from his surgery. He did some great babbling today and has been very interactive. Lovely to see even when he's drugged up to the eyeballs! Back on Monday to remove dressings etc...am quite dreading what his poor crown jewels are going to look like all swollen and bruised.

hanbee Thu 26-Jan-12 15:51:07

Crazycatlady, I'm in Cornwall and have found services and support much easier to come by here than I did when we lived in the south east.

We are within travelling of Plymouth (Derriford Hospital)so are seen there rather than Truro and have referrals to the Bristol or Exeter teams as needed, some of whom do monthly regional clinics at Derriford. Our community hospital and paediatrician is 10 mins away and really good. Physio, SALT and portage all home visit because of the rural area.

I've also found that most other mums I've met have been very accepting and non-judgemental.

Hope that might reassure you that a big move to a rural area can be done with a child with complex needs!

crazycatlady Sun 29-Jan-12 21:16:08

Of course, I forgot you were in Cornwall! My brain is like a sieve right now. Very reassuring to hear about the community services in particular. I'm not worried about having to do long trips for hospital appointments as (hopefully) these will be less frequent but the therapies are weekly so I don't really want to be trekking about all over the place.

Your point about the other mums is heartening too. Where we live now is a very competitive, status-oriented kind of a place, which disability doesn't really fit in to...

Well we now have three trips to Cornwall in the diary for this year to house hunt and look at schools so hopefully we will be there before 2012 is out grin.

How is everyone?

hazeyjane Wed 01-Feb-12 11:41:12

Hello, ds has finally got his videofluoroscopy appointment, for 17th feb. We have a whole gaggle of appointments, all coming at once, paed meeting, opthamology and videofluoroscopy. Now appointment through, I am nervous about how we will actually manage to get him to eat!

He had a hearing test last week, which annoyingly was inconclusive, it seemed as though he didn't respond to certain pitches, but dh thought the test itself seemed a bit clunky. Anyway they want to re-test in 3 months.

How is everyone doing?

crazycatlady Wed 01-Feb-12 22:21:59

The hearing tests are a nightmare aren't they? We've been through 5 with DS (all before the age of 6 months) and all pretty inconclusive although he responds normally to sound in everyday life... the equipment seems very basic and not particularly advanced considering what a technological world we live in today!

Glad you got your appointment date through. They often all come at once don't they? Not long to wait at least.

DS sat independently (for all of about 5 seconds) for the second time this week grin. I almost leapt through the ceiling with joy.

Firsttimer7259 Thu 02-Feb-12 15:38:02

Hi all, esp all the new folk on this thread. I see theres lots been going on.

I am just re-surfacing after the nightmare that was xmas and NY. I have come to realise that my side of the family are just not really interested in whats going on and aren't really prepared to make the effort to learn how to interact with DD. Instead there is a fair amount of lets 'criticise the parents'. I am still fuming and its feb.angry that emoticon needs a bit more grr to really express how I feel

Gah!

Well my DD is now officially a mystery to medical science. The professionals admit they havent a scooby. They cant even score her on the developmental scale cos it doesnt make sense. So I have decided to try some functional learning exercises at home. It seems sensible somehow that if she cant bang, place, pile or sort she cant really do other things. I think there is a conncetion missing there somewhere and I wonder if we could help her make it with enough repetition...anyone thinking of joining me would be v welcome. I am going to try t get set up over the weekend.

Sorry no one is getting any results with any clarity to them, altho somewhere that is of the good. It is just so frustrating.

Congrats crazycat on the sitting - nice!

rosie1977 Thu 02-Feb-12 16:00:39

I will hold your hand if you will hold mine. I am still crying. I have read so many posts today and everyone seems to have their head screwed on, then i look at me and think my goodness i have no idea what anything means. My old HV called me neurotic and told me i should be grateful my son did nothing but sleep. I moved areas explained all my concerns and wow suddenly i wasnt crazy anymore.
Maybe i am being silly but im scared, what if i cant handle all this. I really should stop crying I just cant help it.
And i agree appointments seem to take forever.
When people seem my DS they talk to him like he is stupid which frustrates me he is 3and a half. Im gonna have another cup of tea and hope i can pull myself together.

Firsttimer7259 Thu 02-Feb-12 19:22:48

Hi rosie I was hoping you'd make it here after I saw your post on the behaviour thread. Dont be too hard on yourself, I think most people on here (well me for sure) would see themselves as somehow muddling through and often scared of not coping, - or just plain old not coping. Thats why I post for sure.
Grr about your health visitor. I remember my confusion when I first started to suspect something wasn't quite like everyone else. So many people dismiss you, even my H at the time thought I was seeing things. Lucky for me the HV took it seriously and the GP referrred but its v v hard to think through objectively on your own.
Have a good cry, then ideally tell us a bit more about your DS - big hug and welcome

crazycatlady Thu 02-Feb-12 20:54:53

Hi Rosie, so glad you made it over here smile. I am sure every one of us has wondered if we can handle this. You're not alone in feeling like this and certainly not silly at all. It is a lot to get your head around, it's emotionally trying and all the more difficult because you can't easily explain what is 'wrong' with your child when people ask. One foot in front of the other, day by day... My coping strategy is making plans but not looking too far ahead. And talking. What is the next step for your DS?

It is so upsetting when you feel dismissed or that people aren't listening to you. HV's, family etc... I can't count the number of times well-meaning friends and family would look at DS and say 'see, look he's fiiiinnne...'

Sorry your family aren't getting it with DD firsttimer. So sad and frustrating for you. Mine are a mixed bag too. My MIL (who I've had an awful relationship with in the past) has turned out to be very understanding and supportive whereas my own father has disappeared off the face of the earth... He lives in the US and didn't even phone when DS was in for surgery hmm. He forgot DD's birthday too so is all-round in my bad books right now...

I like the sound of your functional learning exercises firsttimer. Are you using a resource for info or doing your own thing? I feel like I'm constantly trying to get DS to do exercises, sit up, play a certain way, hold his own food, make word-like sounds, listen to ten different types of music etc etc etc! What kind of thing will you do with DD?

bigsquiz Thu 02-Feb-12 21:22:59

Hi Rosie,
How are you feeling now?
I don't think it's silly at all to feel scared, I think it's perfectly natural and understandable. As is not being able to stop crying when it all seems overwhelming.
I saw my GP recently and wept inconsolably at the surgery...she told me to be kind to myself and not try and minimise how stressful I was finding things or expect myself to be able to be strong every day. I try and keep this in mind, especially when I have a bad day or bad patch.
Wish I knew of something helpful to say to help with how people speak to your son, perhaps someone else here has experience of this and can help.

Firsttimer7259 Thu 02-Feb-12 21:29:20

The functional learning I am going to do is based on a book called Every Child Can Learn by Katrin Stroh. It comes with a DVD that has video and material you can print out to make your learning tools. Its v much amed at practitioners not parents.
Anyway if you put her name into google you get a short article on the book. The basics is that v young babies learn through play with quiet concentration. So no talking, encouraging etc. Instead you sit behind your child, take their hands and essentially make them do over and over what NT babies do in the first year or so. So you bang sticks, pick up and place objects, sort objects like with like etc. You do it rhythmically and quite fast and the idea is that this is what ordinary children do to learn so you show your child how to do it. No need for praise etc as the activity is its own reward. IN fact you should be quiet to let your child focus on the activity without distraction also every action is good just for having been done. You know how NT babies are just busy and pleased with themselves for being busy - so you try to do the same tp get these 'basic learning tools' (ie: banging, placing, sorting, matching) in place. They do it for children any type of diagnosis and it seems pretty harmless. I want set up the material in her room, buy her a wee chair and desk and do this 3 times a day for maybe five miniutes building up to 20 mins.
I have had the book for a while but have been overrun with work and appts and just never really got a programme up and running. But we had our portage worker over with her toys and I was watching and thinking that DD doesnt really care about all the instructions and praise. Its more like shes trapped in there because she cant really move her body through space ion a controlled way. So how can she play if every movement is difficult to acheive IYSWIM
sorry long post but I am getting quietly excited! Will update in a month or so let everyone know how its going

crazycatlady Thu 02-Feb-12 21:48:14

I like the sound of that. I think I'll get a copy of that book, the principles you describe sound very sensible indeed. DS will bang a spoon on his highchair, and will play with a scrunchy book or a soft toy but he doesn't explore his environment in an inquisitive way or busy himself with stuff in the playroom if left to his own devices. I guess part of his problem is he can't move himself about yet, but I suspect he'd really benefit from some of those methods, thanks firsttimer, I hope you and DD get on well with it, I'd love to hear how it goes x

Firsttimer7259 Thu 02-Feb-12 21:56:30

Sorry about your dad crazycat Its crappy when people are like that.

rosie1977 Fri 03-Feb-12 09:21:41

I wish I had of known about that book when DS was tiny he didnt do anything until 18months. IU am going to get the book anyway and see if it has any other help.
Im ok i guess i have decided to keep all his medical things organised and have a book to write down the different Dr's names what they do and what they are testing for.
I also am getting a book for school so we can track his development and show it to the various hospitals.
Im trying to stay positive but its hard but in some ways its comforting to know i am not alone.

Crazycat its interesting that your child is small my DS is 86cm and between the years 1 and 2 he didnt grow a milimeter during that time.
My DS has a curved pinky finger, small head size, slow growth and developmental delay.

Firsttimer7259 Fri 03-Feb-12 09:34:48

The book was really expensive and no one I speak to of the various therapists seems to have heard of it. Alos not on this site...
So I dont want to recommend it just yet. But it does seem sensible in the context of my DD. I know when I first got it we did some banging and shortly after DD got her pincer grip and started to be able to use her feeder cup. But thats a long way from saying the exercises helped her do that!
Anyway it will give me something to focus on besides the testing

Firsttimer7259 Fri 03-Feb-12 09:38:50

The DVD that came with the book also made really clear to me that there was something wrong. It showed NT children playing and had commentary on how they were playing. And I remember thinking 'yes thats it thats whats missing' It was like being given words for some previously indefineable thing that I could sense but couldn't specify. At the tme she was about 13 months and many people kept saying 'shes fine' when I asked if they saw anything different.
Now at 2 its very clear that she is phenomenally behind but back then people just kept saying 'oh she's just sleepy' or grumpy or whatever.

bigsquiz Fri 03-Feb-12 10:35:36

Hi everyone,

Hope you are all well and keeping warm, it's freezing where we are!

Hazeyjane, good luck with all your appointments coming up, esp the fluroscopy. Fingers crossed it goes smoothly. My DS2's follow up with neurology seems to have got lost in the system, no-one's called back, but I'm secretly relieved as I'm hoping it will give us a bit of breathing space after the EMG. Also our current chap is a locum and I'm hoping when we next go we can see the full timer who's on maternity leave as she is meant to be amazing.

Crazycatlady, we also live in a place where a lot of people seem to be v competitive and status orientated, which is a massive minus, luckily though our GPs are brilliant and after 10 years in the village I've found some lovely like minded friends which balances things out, so far! Fingers crossed you find your perfect home in Cornwall soon. We are hoping to exchange on a new house in the village v soon, which has kept me busy and given me less time to dwell on DS2's upcoming tests etc etc.

Firsttimer sorry to read about your family and that drs can't give you any answers re your DD. My mum has only very recently started to be less like your parents sound and a bit more understanding and supportive, I found it very hurtful and it nearly broke me years ago when I was a single parent. So I sympathise with your GRRRR! The every child can learn thing sounds like a brilliant idea.

Warm wishes to all

hazeyjane Fri 03-Feb-12 14:09:20

Hello Rosie1977, i'm glad you found this thread, it is a good place to come for a cry and a vent. I hope you are ok.

FirstTimer, that book sounds great, it is brilliant that you are being so proactive with your dd. How is she getting on? We have been very frustrated by the lack of SALT input with ds. I feel he should see someone regularly partly because of his swallowing issues, and also because he still makes no babbling sounds, just a little sort of squeak. The SALT we see at nursery just tells us to look at books together, and sing and carry on with makaton signs.

I've just had the results back from a test for PraderWilli, which was normal. This is obviously great, but ds still has to have a microarray done, although we haven't heard back from the genteticist, so i guess i'll have to do more chasing up.

rosie1977 Fri 03-Feb-12 14:50:12

Thank you hazeyjane. Everyone on here is very kind.
I should be used to the challenges of being a mum but my youngest 2 cause me stress which i know isnt their fault but my youngest DD is gifted and talented and I am constantly trying to challenge her mentally so she doesnt get bored. And DS has developmental delays which I keep trying to research but they tell me to do things i already do. Sing, talk, have conversations with him.
And I understand about people around you being negative or thinking your making it up. My HV still believes my DS is normal with his development.
Tomorrow morning OH is taking kids to his mums and I am going to sit and plan what I feel I need to do. Atm I feel like everything is so confusing and disorganised.
Tomorrow i will make a post and ask people to see if i have missed anything or need to consider in my list.

Many thanks again to everyone for being kind.

Firsttimer7259 Sun 05-Feb-12 15:47:35

Today DD turns 2. My family have sent text messages or emails but nothing else not a card or a pressie or even a phonecall. According to them its my fault they cant support us because I am angry and unfriendly. I am angry and I am unfriendly, mainly because I am tired and overwhelmed by the events of the past year. It seems to me that this is my family's way of blaming me for them finding DD hard to bond with.
I am coming to the conclusion that I need to stop expecting or hopiing for supoprt from my family bacause I am continually disappointed. This is an old family pattern where for some reason I dont really count. I feel I cant spend any more of my severely limited time and energy on my family and trying to figure out why it is like this or how to fix things and improve relationships. Instead I think I need to let it go and focus on getting support from those relationships I have that function normally.
Does that sound v harsh?

rosie1977 Sun 05-Feb-12 17:36:52

Happy Birthday to your DD.
And of course your angry, this wasnt in the plan, but it has happened and you have to find some way to accept it. (i say this but yet cry all the time and feel like i am to blame and its all my fault for everything).
My DS was also very sleepy as a baby (he still is) people kept saying i should be grateful my child slept so much.
Concentrate on the people that do give you support, hopefully one day your family will wake up and realise what a beautiful treasure your DD is.

And you dont sound harsh at all, families are strange things at the best of times and are complicated at the best of times. Give yourself an emotional break...This is your DD and your big day.

crazycatlady Sun 05-Feb-12 21:23:19

Happy 2nd Birthday BabyFirstTimer! (well, not such a baby anymore...). I am sorry your family have been difficult. It is sad because it is your DD who is losing out on having her wider family around her or sending thoughtful cards and gifts for her birthday. At 2, she probably won't notice, so it is you who feels the hurt, but by next year she'll know what's what.

I think all you can do is to explain your disappointment to your family in those terms and make it about her rather than your own feelings. Of course, your feelings should count to them too, but their ears and hearts may be more open to what you have to say when explained from DD's (future) point of view.

In the meantime, having a break from what sounds like a difficult situation for you may be a good idea. Focus on your DD and the positive relationships you have in your life for a while. There is so much emotional energy invested in caring for children in our situations that there is really not much room for negativity or awkward behaviour from others.

Sorry that was a bit of an essay. I've done a lot of thinking about personal relationships over recent months for similar reasons, both friends and family. Having DS has changed my perspective to such a great extent, I value relationships more and work harder at them, but equally have much less patience for putting up with people who bring me down, don't invest the same level of commitment in our relationship or insist on competing with me at every turn!

bigsquiz Sun 05-Feb-12 21:23:58

Oh firsttimer, I'm sorry your DD's special day has been marred by your family's behaviour. A very happy birthday to her, I hope otherwise the day went well...It's my DS2's 2nd birthday today too...I had to remind my mum last week as I knew she'd forgotten it was coming up but for some reason that didn't bother me. What did was that my (only) sister forgot too. Completely. I looked at the letterbox on Saturday morning like a teenager on Valentines day hoping for a card that didn't come. I have been trying not to feel angry ever since but still I am. I am working on the basis that it's not that my sister doesn't care, it's that she's too caught up in her own life. This however has been the case for many years. Don't know how to handle it if/when she remembers she's forgotten either. Families!! Wise words Rosie on that subject. Hope you got your list done this weekend and are ok.

I don't think what you plan to do is harsh, firsttimer. It sounds more like self preservation at this moment in time. You can always rethink at some point, if you are feeling strong and want to have another crack at getting through to your family and trying again to make things better. You are almost bound to be feeling the way you do after today. If only they could have some sort of epiphany and be more supportive.

Hope things get easier soon

rosie1977 Sun 05-Feb-12 22:43:28

Didnt get my list done DS wasnt feeling great Saturday and when he is sick omg he clings even worse to me. And today my DD needed to play in the snow so i was constantly mopping the floors.

I found a website which describes some of the Autism signs and OH and I will go through each one and describe if our DD behaves in that way and if so give examples etc so that we have a clear list to give to the hospital on Wednesday.

We have alot of people telling us DS will just grow out of it or we are making more of it than we need to...its absolutely pathetic that people actually think that we as parents dont know something is wrong with our DC.

People should be more supportive in general. If our DC start making a noise in the supermarket or throw a tantrum my goodness the amount of people that tut at me and make me feel like i am useless.The worst ones are generally the older generation that seem to be forever telling me my son needs a clip round the ear for his behaviour or they shout at him as if they have some god given right.

hazeyjane Mon 06-Feb-12 08:52:23

Oh Happy Birthday FirstTimer's dd - I hope she had a lovely day, and that it wasn't too marred by family strife.

I think we are lucky that we have the dds as well as ds, as they divert a lot of the attention, and it is not so focused on what ds is or isn't doing.

I feel as though he has made such huge progress, he is 19 months old today and able to edge his way along the side of the coffee table (4 months ago, i couldn't imagine him walking), he signs 'mummy' and 'more' and makes a hand flap thing when he is with his sisters, who he adores.

I feel like being nothing but positive about him (probably because we have a meeting with his consultant soon!), he is so gorgeous (have made profile public so everyone can admire!)

Hope you are all ok.

Firsttimer7259 Mon 06-Feb-12 10:40:00

Thanks for all the nice birthday wishes. She did have a lovely day. And its not the lack of presents thats the problem its that my family spend their time working out why their not supporting me is my fault. Somehow if I were different this wouldnt be happening to us and they would be really helpful...hmm
It messes with my head, because life is hard enough as it is at the moment without the pressure to think that its somehow my own fault.

deep breath:

rosie that sounds like a good plan, sounds good you are making time to talk through stuff with your partner. I find often one parent races ahead of the other and you end up getting frustrated with each other. My H has done a Hanen course recently. As well as free up my time its been great for putting him in the driving seat on an issue that affects DD. Sorry about the judgey pants in the supermarket

hazey its nice to actually see you!! Wierd I feel like I know you - we have been on these boards as lurkers and finally posters for roughly the same time. What a cutie your DS is, everyone else too, naturally but hes seriously cute!

crazycat and big thanks for the wise words. I know you are right, its just tough to do.

Onward and upward today. I am waiting for someone to buy DDs playpen so I can redo her room with a workstation for her new learning programme. smile

crazycatlady Mon 06-Feb-12 11:54:17

hazey your kids are gorgeous. I have a Hello Kitty obsessed daughter so the one of your DD in a Hello Kitty t-shirt made me smile.

Will check in again later, hope everyone has a good week.

rosie1977 Mon 06-Feb-12 23:32:32

Nerves have kicked in now about Wednesdays hospital appointment. Peadiatric Endocrinologist i have googled and apparently its hormones but i am still none the wiser.

Ive read alot about Autism and the spectrum, some of it is just utterly confusing and other bits just fit DS so well.
Im trying to be practical, trying to be rational but its not happening. I guess it doesnt help that DS is once again laying in my bed snooring, he hasnt slept well since we took his cot away at the age of 3.
Maybe i am stupid but i cant help feeling i did something wrong, when he was 8 weeks old his sperm donor left me for my friend and I had so much on my plate with DD. I knew he was different from the day he was born, i would mention it to the midwife and HV and yet i obviously felt reassured because i didnt argue to much.

I do wish i had of paid him more attention. Today i guess has just been one of those days where he has taken alot of my energy.

Sorry for the moan. Just throw rotten veg at me.

Firsttimer7259 Mon 06-Feb-12 23:38:36

Hey rosie, go easy on yourself. The appt will doubtless be disappointing. Dont spend the time until then ripping strips off yourself

rosie1977 Tue 07-Feb-12 10:24:56

Thanks am trying but its hard, just want to know how to help him.

rosie1977 Tue 07-Feb-12 11:42:30

OMG i phoned my HV to discuss things with her and to find out if there are any support groups in the area for both me and my DS. SHE HAS LEFT...im so annoyed that she left and atm we have no allocated HV.

Off to clinic today to speak to them as they are suppose to be calling but I want and need them to know i am not just a voice on the phone i am a mummy worried about her DS. Sigh why cant things be easier sad

Hi there, crazycat here under a new name. Had a bit of a tidy up of my online profiles and user names and consolidated a few things, so any fans of Willo the Wisp will recognise me wink.

Oh and I have revamped my blog. I'm not sure it's the done thing to link to blogs on here but I'm keeping a blog all about DS. For two reasons 1) to keep a track of his development and experiences in one easy place and 2) to raise awareness of undiagnosed syndromes, oh yes and 3) to link up with more parents of children facing similar issues.

Rosie, that is annoying not to have an allocated HV. I have found ours to be a great co-ordinator of everything we've needed for DS. When we were in London we had no-one and it was difficult.

How did it go at clinic today?

rosie1977 Tue 07-Feb-12 23:04:16

Didnt go well at all saw 2 HV and neither of them knew anything about my son and his case hadnt been transfered he was just left in the drawer.

I felt patronised when one of them said she could arrange to come to my house to discuss betime routines.
I have done all the techniques and they all worked fine and DS has slept through until at the age of 3 we decided getting rid of his cot was a good idea. We did it slowly and made his bed his space...but OMG he has hated his bed and since then he has been a poor sleeper often finding comfort in our bed.

She did tell me DS doesnt have Autism because he looked at her in the eye so thats 100% definate (pfft).
There is also a year long waiting list for SALT. I mean come on there are children out there that need help today not next year.

The more i start to really get involved into whats happening with my DS the more sad and angry i am starting to feel.

If our DC have undiagnosed syndromes what help can they get? Will they simply be shoved in a corner with no one to fight their battles for them.

One thing i know for sure DS has a curved pinky finger (every consultant thinks this is relevant), small head circumference, developmental delays in all areas (some significantly worse than others), now all i have to do is get all the DRs to link them together and get us a diagnosis.

I do think its relevant to do some sort of diary (blog in your case) to monitor DS progress so i will start a diary. Thank you.

Sorry about the essay. This site is turning into my saviour lol

Sorry you're feeling so deflated by today rosie. It is hard work a lot of the time and so many doors to push open before we find answers and the help our kids need.

DS's paediatrician says a lack of diagnosis shouldn't affect the therapies he needs or gets... but looking ahead to getting statements for school etc everyone I speak to says getting a diagnosis is v helpful.

Has your DS seen a geneticist? Sorry my memory is pitiful and I'm posting on iphone so can't read back through the thread easily! I think it may be helpful if not. We have (finally) got our genetics appt for April.

And have you been in touch with SWAN (Syndromes without a Name). They have a facebook page and a wordpress site and have some useful info and advice, stories from other parents etc.

Right I really must go to bed now, nighty night.

rosie1977 Tue 07-Feb-12 23:33:52

Yes we have a geneticist and he has had all his blood work done for it and its in storage, apparently genetics is an under funded department at the hospital and there is a years waiting list for the tests. Will find out the name tomorrow.
I will look for the FB page now. Thanks for that your a star. We must get to bed too have a long day tomorrow.

Just hoping they dont take more blood my poor DS has had his fair share of needles already.

Firsttimer7259 Wed 08-Feb-12 09:28:14

Hi rosie sorry its so frustrating and I hope the appt today goes well. HVs are a very mixed bunch, shame yours are crappy. The waiting times you have are really long. I wonder if you are doing more advanced tests? Or if these are just regional variations? Our genetic stuff took about 3 months and that was the longest turn around time we had.
crazycat I am gonna have to remember its you. Whats your blog? [curious emoticon]...Am thinking of starting one myself as an outlet for all this and also basically a nosey parker...I love seeing more about people on here. This thread is becoming a real thing/place in my life. Can you message me the link or however you do these things?

Firsttimer7259 Wed 08-Feb-12 09:33:02

There is a tenner off the functional learning book I am using on amazon here http://www.amazon.co.uk/Every-Child-Can-Learn-Developmental/dp/1412947952

rosie1977 Wed 08-Feb-12 09:35:56

Yes crazycat I would like to read also.

And thanks Firsttimer, nerves have kicked in and once again I feel DS is getting all my energy and attention whilst DD just has to put up with it. She had to miss school because of the appointment and being let down by the person suppose to be collecting her. But today of course she is sick and we have to go to this appointment as we have already rearranged it once.

I just hope she understands why we need to go. Got her 3DS ready and her books and going to take blankets etc for the car. I feel like i am letting her down.

hazeyjane Wed 08-Feb-12 09:51:06

hello all, yes i would be interested in your blog too, crazycat (yours too if you do one, firsttimer).

your waiting times do sound horrendous, rosie, have you got a SALT advice line? when i rang our local one, i ended up with an appointment the following week. As far as genetics go, our wait for the initial tests was very quick, but only because of the worry that ds may have sma. We are still waiting to see a geneticist and to have a finer microarray done - plan for today is to chase appointment!

We ended up in hospital last night as ds had a temp of 41 that wouldn't come down, they did a chest xray which showed a patch on his lung which has appeared on all his previous xrays (although no-one had noticed this until yesterday!). Another thing to ask his consultant about on the 20th.

They gave us the choice of staying or treating at home, as long as we came in if temp got stuck, his breathing became laboured or he starts vomiting. I would normally have stayed in, but for the fact that dd2 started to freak out - they had been so good all evening (we had picked them up from school on way to hospital), dh had taken them out for tea and they had played in the playroom on the ward, but dd2 was getting increasingly agitated that I wouldn't be coming home. It was gone 9 by the tie we got home and they weren't in bed until 10, I feel awful for the way it impacts on them, dd1 was asking why ds has to go to hospital all the time.

Anyway dh has taken the day off so that I can spend the day cuddling ds (i have a cold too - feels sorry forself emoticon!) and we can be ready to go back to hospital if we need to. Fingers crossed the meds kick in and we can stay at home.

rosie1977 Wed 08-Feb-12 09:54:40

Oh no sounds like you had a horrendous day. Lets hope his temp stays down.

Hope todat is a better day.

Firsttimer7259 Wed 08-Feb-12 10:01:59

Oh hazey that sounds dreadful. Have a good mopey day and hope you all feel better soon. brew

hazey I hope the meds are working for your DS and that you are snug at home right now. What a rotten experience for you all.

rosie it's funny you should mention feeling like you're letting your other child down. I have had a day of feeling really sad about the effect on DD that all of DS's needs have. My blog post from today was on that very same subject. And since some of you have (very kindly) expressed an interest, here's a link to my blog orangethisway.blogspot.com/. I haven't figured out how to PM so I am probably dangerously flouting all the MN rules by posting the link publicly. I will remove it if I get rapped knuckles. It is in embryonic stages and I haven't really found my 'voice' yet, so bear with me!

firsttimer thanks for the link to the book. Seems like the perfect time to buy it <skulks off to Amazon>

hazeyjane Thu 09-Feb-12 10:54:33

ds is loads better this morning, after an awful night (temp 41, sick twice). The hospital are phoning later, but I think he has turned a corner.

I read your blog last night, maviscruet, it rang lots of bells with me, you write very well and with such honesty. i wouldn't wish these worries on anyone, but it is good to read the thoughts of someone going through similar stuff and realise that i am not the only one.

thank goodness for this thread.

hazeyjane Thu 09-Feb-12 14:09:24

ugh, ds ill again, think we are going back to hospital.

just got a letter through from ds's consultant requesting another 11 blood samples, including liver function, i can't bear the thought of another blood test.

Firsttimer7259 Thu 09-Feb-12 14:15:32

poor you hazey, been watching your other thread. Can any one help you look after your girls or with anythng else with all this going on? Poor wee man as well. I hope whatever it is get better v v soon

rosie1977 Thu 09-Feb-12 14:33:35

Ouch your poor little one. am just off to read the blog.
I have a meeting with school tomorrow with special needs coordinater and HV is coming out on Tuesday to discuss the support we can get in the local community.

Just read the blog, funny what your wrote about having another baby as we were talking about that yesterday when we saw how he observes siblings playing. We cant physically tho which will always be one of my regrets in life.

Im feeling tired and emotional all the time, wondering what i did so wrong, OH assures me it was nothing I did. DS tantrums are bad today, he didnt sleep well because his routine was disturbed therefore we are going to have a bad few days.

Our DD asked yesterday If DS was going to die. I looked at her and just said I dont think so but nothing in this life is certain. She cutely said she doesnt mind if he dies when he is 90 but not yet because they have so much more fun to have.

DD always thinks about her little bro. From the minute he was born. See my OH isnt the biological father of my DD and DS his biological dad didnt want to know as he was a boy and ran off with my friend.
I feel guilty that OH has to cope with my DS when he has all these issues. Every week i ask him if he is sure he wants us to stay in his life. He has always said DS is his son in every way. Funny thing is people say they look alike which is funny.

Im really feeling sad and low atm. I just cant shift the feeling that I did something wrong.

Firsttimer7259 Thu 09-Feb-12 20:22:39

Hey missmavis thanks for the blog link. I loved reading it, seeing you and you ds. Orange is lovely and I have been going through so many similar things over the past year. Its hard to explaion to anyone not going through it and reading blogs like yours makes me feel less alone. Thanks for posting it.
I also had a read through the blog you linked to Karen Pape and that really made me think about challenging our girl more. The stuff about habits hiding brain development made a lot of sense to me. I think we fall into routines with her and dont make her do things that are at the outer end of her ability. So today I insisted that she walk (holding my hands) to her coat at nursery and made her use her spoon more than I usually do and kept on at her to stop just dropping her spoon. I think it worked!
hazey hope your son is doing better, am worried for you

rosie1977 Thu 09-Feb-12 21:17:50

Firsttimer apparently at my DS nursery all the little girls run around trying to do things for him until recently he got cross at the girls and the teachers finally told them to stop doing things for him.
Im trying to do a chart for DS so when he gets dressed, puts shoes on etc we mark it on the chart. Im not going to do a reward chart just an I can do it chart.

Firsttimer7259 Fri 10-Feb-12 09:50:07

I thought I would post quickly about our last pead appt. As some of you may know I struggle with appts and always end up with a real low afterwards - mainly because nothing really happens and I am disappointed that no one can tell me anything that sheds any light on our girl.
Anyway last wed was different. My expectations were low. I think I finally ahve it in my head (sort of) that there is no magic bullet/diagnosis at least for another 12 months or so. Also I dont really like the pead who is a bit odd and not very good at engaging with D. But this time I took over a bit. Played with the girl for her, trying to highlight/demonstrate what she can and can't do. That worked much better. Eg: stacked the bricks so D would knock them over instead of just leaving them on the table where she ignores them or just bats at them (really like a 4 month old). Refused a brush for pretend play and took a wee cup instead as I know D pretends to drink from the cup but hasnt a clue what a hairbrush is for. Encouraged D to walk to the wee table holding my hand. ETC So pead got a better view of things. I also talked through a lot with her. For instance she wondered whether D just forgets objects once they fall as she doesnt look for them. I told her that when it suits her D has a great memory and will persist in going back to something (eg: TV) regardless how often you remove her and refuses to be distracted so how does that fit?
Anyway this all worked much better for me, we ended up have an open discussion about things that are just puzzling: like is it her cognition thats lacking or is she refusing to pursue things as a way of managing her frustration that her body isnt doing what she wants? No clear answers for sure but interesting for me to have a pead talk through whats uzzling, break it down into separate elements whcih in turn is helping me now in trying to understand whats going on.
For instance now that we have started out functional learning sessions I find that I am starting to see evidence of D zoning out or just batting at stuff when she cant do something. I'm not sure yet thats what I am seeing but I think theres a relation and so I think less that she has absence seizures or a lack of concentration but more that she is trying to switch off from something thats upsetting her.

I did say brief post, which this isnt, but I wanted to talk about this somewhere because its helping me.

rosie1977 Fri 10-Feb-12 10:12:29

Im thinking of videoing DS to show the Drs what he can and cant do. Its weird because sat in those offices they throw questions at you and for the life of me i can never think of the answer.

The zoning out happens to our DS too. Its like he just isnt at home, he does this alot at the hospital.

Good luck i hope answers come quickly. We have school appointment today at 12.

Good idea to video. The 'zoning out' you talk about rings bells... but DS is still 'reachable' when he is zoned out so it doesn't seem like seizures, more like some kind of sensory shut off mechanism he has when tired or when it all gets a bit much, like at hospital, or at the physio where he is absolutely at his worst.

hazey how is your DS?

Thanks for the kind comments about my blog. I'm going to try and keep it updated regularly, as well as posting here, as it's so useful to be able to get stuff out of my head and share with others.

Hope you all had good weekends. We took DS swimming today. I can't begin to describe how much he hated it! Shame. He loved it the last few times. DD on the other hand swam a whole length of doggy paddle on her own. I couldn't believe my eyes!

Firsttimer7259 Mon 13-Feb-12 23:02:19

First off - Hazey - hows he doing?

Second: I have had one of those days where I cant stop thinking about things. I am back in 'the fear' but dont even know what to google any more.
I had a look at the developmental milestones for 2 year olds. It took my breath away - we dont meet even one. I keep trying to focus on the positive but something is really wrong here.
I dont know what else to do. I am re-thinking autism. It doesnt really seem to fit but...I dont really know what else to do.

The saddest thing is that she's getting to old to 'blend'. Shes two, and she is the size of a two year old. A small two year old but definaitely not a baby. I notice people wondering why she doesnt respond. They think shes grumpy or tired. I dont always want to say that actually she never/rarely does that. But its getting harder somehow. Like we are crossing a barrier of what is acceptable. Its acceptable for a baby to have a screaming fit because shes hot coming into a shop. Its different if your child is 2 I am starting to notice.

What else should we do? Should I ask the Drs more about autism, put pressure on starting more intensive therapy? I dont even really know what ABA is or anything like that? Or what it costs? We are kind of broke I am scared to look into it and find we cant afford it. I guess we will just have to cross that bridge when we come to it tho. I keep avoiding mummy things because I cant handle it and I feel bad that I am just failing her. Not pushing enough, not doing enough, but I dont know what more to do. We keep waiting for her to make progress but it seems like we are just falling further and further behind. Maybe she wont ever make it and I just dont know what to do anymore. We seem to have run out of tests and ideas. Nobody knows whats going on. Nobody really helps us. Its beyond awful and there is no end in sight

Firsttimer7259 Mon 13-Feb-12 23:24:34

Sorry, bad day, bad evening. But need to post again
Looking at boards etc of people in our situation they talk of fighting to get more support or resources. I dont even know what we need to get. Do we need to get something? I feel like I cant keep waiting for some miracle but I have no idea what we should do.

It's so difficult to negotiate a path when you don't know which one you should be negotiating. And when you don't really want to be on it in the first place and have no idea where it leads...

Your words from last night ring so true with my darker moments thinking about how life might be as DS grows out of babyhood. He turns one next month. We have celebrations planned but in truth I am dreading it. A one year old should be sitting, crawling, walking, eating, talking... DS is only JUST getting to the first of the things on that list. And it is a hard slog. Nothing comes naturally, everything has to be learned and practised, all day every day.

What support do you currently have firsttimer? What therapies is your DD receiving?

In Lambeth we had nothing, just lots of testing at the hospital. Here in Surrey we have a dedicated HV, physio at home every week, he's had what they call a CAF form done and had a MAP assessment with what will be his team of local professionals, he has now been referred for OT, SALT and Portage all of which should come through imminently. Also hydrotherapy, when we can get there, is available to us.

It seems to be very different in each area. But I would think a CAF (Common Assessment Framework) form would be a good start if you haven't had one. This seems to bring everything together.

hazeyjane Tue 14-Feb-12 14:58:50

I am sorry you are feeling so worried, Firsttimer. This post is going to take ages to write, because i will have to do it in dribs and drabs whilst 'managing' the chaos of 3 dcs each trying to destroy the house/each other/my sanity - so bear with me!

I just wonder what support you have now? It varies so much from area to area, but I'll say what we have and see if there is anything you feel you are missing -

ds has had a SOGS and a ruth griffith assessment, the ruth griffiths is far more accurate at assessing the level and areas of delay.

he sees a physio and an ot, every couple of months, to discuss ways we can help him physically to play, have his Piedro boots fitted, discuss what equipment might make our live easier.

he attends a special needs nursery, twice a week - i go with him, and he sees a SALT here (although I'm not happy with the way this works), they have key workers who carry out a programme designed to help each child, which is worked out by the physio and SALT there, they also have soft play, senory room and music therapy. It is a free nursery which works on referral basis, but ds also has a CAF statement which means funding is available for him, i believe this is assessed regularly and will change as he heads towards preschool/school.

he sees his paed once every 2 months, this is to discuss various medical issues and arrange tests etc

we are just about to start weekly portage

he has an annual team around the child (TAC) meeting, in which all professionals involved in his care, and us, sit around a table and discuss the best support for him, and what tests etc are needed. He had one at 10 months and is due one in May.

We have a very very supportive and helpful gp, who we see every couple of weeks, she has been our strongest area of support really, always helps contact people, and makes sure I am not overwhelmed (I saw her when ds was first assessed suffering with a lot of panic attacks and anxiety).

Some of this works well, other stuff I feel needs to be changed, and it does seem sometimes that I spend my whole day trying to arrange meetings appointments, etc.

I find the really exhausting thing is that ds doesn't sit and play in any way at all, unless we actually play with him, and even then it will usually only be one small repetitive thing -hold ds's hand, put shape in hole, open box, hold shape in hand put in box etc etc. Fortunately we have the dds who will play with him ( a little bit!), but it is also this that takes us away from the dds, because he needs constant attention.

Do you know anyone in rl with a child with sn? I found things a lot easier when I got to know a lady in town who has a ds a similar age to mine with a chromosomal disorder, we go to music and swimming together, and it helps to see them both having a great time despite not being able to walk or talk etc.

Of course I also have friends with nt dcs of a similar age, and sometimes it is hard, but we were friends before having ds and so have come on this whole journey with me.

As far as the autism thing goes, I suppose I feel with ds this wouldn't be apparent until he was older, as he in so many ways is still such a little baby (well, big baby!). Have you started any threads on here about early signs of autism in young/delayed children? It does seem as though there are a lot of very knowledgable people on MN wrt this area of SN. There is also a very good private paed who has been recommended on here, if you are very conerned that your dd is showing any signs.

Sorry this is such an enormous post, but you sounded so lost and worried, and I think we have all felt that way at some point on this bumpy road.

hazeyjane Tue 14-Feb-12 15:00:15

Blimey, that really was a long postblush!

oh and thankyou for asking about ds - he is loads better.

Just in time for his barium swallow test on Friday - yikes!

Firsttimer7259 Tue 14-Feb-12 15:02:34

We have physio (monthly) she suggests things to encourage her walking. Physio really helped with getting her to crawl but progress since then has been slow.
We have SaLT (every 3 months) there's v little to work with as she has almost no language. My H did a Hanen course and we have the book. We work on paring down language, repeating, anticipation games and language related rituals to try and teach particular words. We try to use signing to reinforce basic words but everyone is using slightly different sign systems (the professionals, nursery and sing and sign) argh!
We have portage, used to be fortnightly now once a month. I dont find it that helpful tbh. She tries out toys and suggests sources of support.
She goes for nursery rhyme stuff at the library and I am hoping to take her to music classes for SN children again plus more sing and sign.
Her nursery do story time and singing and different types of play. I am not sure how good they are at engaging her. She likes it there tho. The various professionals are doing sessions with nursery staff in the next months.
I have started functional learning sessions - but she hates it, altho I notice her focus on her hands is getting (a tiny bit) better I am thinking of taking her swimming on the weekends, but we are tired.
Still waiting on OT.
There are no more investigations planned for now, except a second MRI in summer
I am so scared and so frustrated. I feel we become more and more alone in this as she gets older.

Firsttimer7259 Tue 14-Feb-12 15:03:17

Hi hazey just cross posted w you. Will go read your post

hazeyjane Tue 14-Feb-12 15:09:36

with regards to testing, have they done all the genetics ?(sorry you probably have said earlier). I am frustrated with ds's paeds because after a 7 month wait for an mri, which was an awful procedure for ds, they have decided that actually a genetic reason is more likely. I have been pointing certain things out since the beginning - mildly dysmorphic feature, tapering fingers, preauricular pit by ear, toenails that peel off, over large tongue, drooping eyelid, broad flat bridge of nose, but it is only now that they have put all these things together and decided to refer us to a geneticist, who will do finer genetic testing - of course this will take a bloody age.

Firsttimer7259 Tue 14-Feb-12 15:17:52

Thank you both for the detailed posts. It really does help as it gives me some sort of yardstick. I am going to ask about a CAF. I dont know if we have one. At the moment we have full time childcare (nanny and nursery) that we pay for from our increasingly meagre savings. She loves both but I dont know if they really do enough with her. I would like to be part time and do a bit more, esp meet some parents in a similar situation. But I was exhausted after my H was ill last summer. We have no other help and I am scared of getting rid of any childcare in case I cant cope. Looking after her takes a lot of input plus she still cries a lot and we have to figure out what she wants. I find I am a better parent when I dont do that all day long as I just run out of patience sadly.
I think I will speak to pead and portage about what the plan is now and what else could be considered etc Maybe there is some funding for more input we could try to access. We cant really afford to continue like this in any case

hazeyjane Tue 14-Feb-12 15:43:03

how peculiar, my lovely gp has just phoned to tell me that the blood tests that were done before xmas, will have to be redone because half the blood samples were unusable.

i am incandescent about this, the blood tests were horrendous - it took forever and ds has been impossible ever since, when we go to the drs or any hcp touches him. Also, the last paed we saw said that all his blood results had come back normal, so we were relieved because some of the tests were for very worrying things, now we find out that half the results hadn't come back, so the worry is still there, god i feel sick.

Firsttimer7259 Tue 14-Feb-12 15:53:49

I cant believe stuff like this happens hazey. Its an evil sucky world out there. Really angry for you too. Alos on the fact that its now feb, you thought this was done, but oh no!

hazeyjane Wed 15-Feb-12 08:33:44

Well have calmed down now.

Tests asked for are

Torch screen
immoglobulins
phytanate
very long chain fatty acids
trans ferrin isoforms
acyl carnitine
plasma lactate
venus blood gas
another full blood count
liver function tests
calcium profile
crp

just a few drops of blood then!

Gp said that the consultant had a meeting with another paed to decide whether they were strictly necessary and they have decided that they must be done, but they are going to get a registrar in to do the tests and I have asked for a nurse that helped with his cannula insertion at xmas, to be there - she was fairly old school, but she understood that no amount of distraction was going to make a difference, it just had to be done quickly and efficiently.

I feel as though SALT is the one area where I would really like some extra input - ds hasn't even started babbling yet, and the SALT said that really we are doing all we can do at this stage of verbalisation (ie the very earliest), he enjoys anticapatory games and songs and has done 3 signs, but only does them if we ask him to do them, iyswim. Do you think hanen would be suitabe for him, anyone who has looked into it? He really does just make 'uh,uh,uh' sounds, and i think part of the delay is physical, as he is unable to make the jaw and tongue movements necessary.

hazeyjane Wed 15-Feb-12 10:06:34

ok have just arranged for it to be done on Friday, when ds is going to be going in for his barium swallow test. I was very insistent that the test be done by a registrar, and that there are 2 nurses on hand - one to help hold ds down, and one to treat bloods and prepare them for transport.

Friday is going to be hell.

What a nightmare hazey. They take blood for so many things, and so many of our kids (mine included) are a nightmare to get blood out of. DS absolutely hates having his hands held and bent to get the blood to come out and it drip drips soooo slowly it takes ages. He has no visible veins in his arms at all so it's always the backs of his hands.

Does the 'magic' cream help your DS cope with the needle at all? I'm not sure it makes much difference to mine...

Off to the dietitian now to (hopefully) get some prescription formula for DS - he is allergic to cows milk protein so I'm still breastfeeding him but would really like to get him sorted with some alternative. We've tried Wysoy, Aptamil Pepti, Pepti Junior and all have made him vomit.

Oh yes and we're weighing in, which i'm dreading, as he hadn't put on any weight last time he was weighed and it got everyone very nervous.

Hazey I'm starting to look into Hanen. I might buy the 'It takes two to talk' Hanen text book first then look up a course.

Firsttimer7259 Thu 16-Feb-12 12:43:47

Hazey- so sorry about needing more bloods. I hope tomorrow goes as well as it can.
Mavis - I have the Hanen (buy it at Winslow and save £££s) I found it really good. Its given us a lot of confidence that what we are doing is the right way to go.

hazeyjane Fri 17-Feb-12 08:24:11

ok, todays the day, wish us luck!

Thinking of you and your DS today hazey, good luck x

hazeyjane Sat 18-Feb-12 06:46:07

long but good day yesterday - got to the hospital at 10 and left at 2!

barium swallow went surprisingly well - i was pleased because our SALT, who I cried to over the phone, turned up on her day off to help out, and so we had the radiologist, a SALT feeding expert and our SALT, ds was amazing, sat happily in the machine, and ate and drank a variety of stuff with barium mixed in, dh and the pro's watched from a little room. So it seems as though ds isn't aspirating food (this is fantastic news, as there has been talk of him being tube fed), but food moves very slowly down (due to low muscle tone), and has a tendency to pool in the throat area - from this they have guessed that he probably does aspirate saliva into his lungs, when he lies down, which means when he gets a cold, he also aspirates all the snot and goop, and as he has reflux he is probably aspirating some acid too. The feedingSALT is coming over with the video of what they saw to talk through it all and she is going to have a meeting with ds's paed to discuss the best way forward.

the blood test was the usual balls up. Although we had warned them ds was coming in and the bloods being taken were very unusual, there were 8 samples needed and ds is very difficult to get blood from, when we got there a jr dr strolled in and said, 'ok so let me see what the blood sample is for ......oh, these are a bit odd, i don't think we do these here, that is an awful lot of blood....'
fortunately i had a bolshy, don't mess with me head on yesterday, and said we would happily wait if they wanted to find the consultant who had ordered the bloods and a registrar to take the blood, as we didn't want a repeat of the last time the bloods were taken. 20 minutes later, the consultant and a registrar came in, apologising profusely, it took her 5 minutes to take the blood needed, ds screamed but it was over quickly.

ok that was a bit of a splurge, sorry - i needed to get it all off my chest!

hope everyone is having a good weekend.

You achieved a lot yesterday hazey, well done you and DS.

Wonderful news that he is not aspirating food. What are the signs of aspiration? I keep wondering about it with my DS and not sure what I should look out for.

When will you hear back from the blood tests?

Firsttimer7259 Mon 20-Feb-12 14:13:42

Hazey - you get bolshy mummy prize. Well done, glad it went ok.

hazeyjane Tue 21-Feb-12 13:25:54

thankyou.

maviscruet, the reason why it was suspected that ds was aspirating was because of his frequent chest infections (6 in the first year + bronchiolitis, and several visits to drs with liquidy sounding chest). He drools a lot and had episodes where it would seem as though he was choking on his drool when he was lying down. There are classic signs of aspirating food - gagging, choking, frequent cough, liquidy sounds after eating, eyes watering when eating, going clammy when swallowing. If you are worried, then you could ask a SALT feeding specialist to watch your ds eat.

we hav both been wiped out with a sick bug, so are curled up on the sofa recovering.Poor ds was sick for 24 hours and hasn't eaten since Sunday, he is weak as a kitten. He is managing to keep dioralyte down now, so dr thinks we can avoid hospital.

Had a depressing chat with fil last night, dh had told him how the videofluoroscopy had gone, and that we were going to see the paed yesterday (we had to cancel due to sickbug). So last night he phoned full of beans, saying had the paed said that ds was going to be fine, and that he would just grow out of it all. it is so difficult to explain to him, that ds has issues that aren't going to just go away, he thinks that we are being negative when we say that ds is disabled or that his problems aren't going to just go away as he gets older. I think dh and i are usually fairly positive about ds, but we have to be realistic, everything he achieves takes a lot of hard work. When ds took a few steps behind his walker, fil said, 'see i told you he would walk, just a late starter'. without seeing all the physio we had done, or the fact that he has spent months in a standing frame twice a day to help his posture, or that he has to wear Piedro boots to help him stand on his strange, scrunched up feet. And that 2 months later, he is no closer to walking than that first day, and when he does walk behind his walker, he is exhausted afterwards. Anyway after talking to fil last night, i felt awful, as if i was crushing the hope out of him, I suppose the older generation has a very black and white view of disabilities, because we have no name for what is going on with ds, it isn't real, and if he has 'got' something then he is doomed to a life of suffering.

Sorry to blurble on, too much time recovering on the sofa, stuck in my head with my thought!

How is everyone?

Firsttimer7259 Tue 21-Feb-12 15:31:48

Sorry its hard hazey. I find family really difficult at the moment, mainly because you'd like some support but then find yourself having to 'manage' them instead.

I have currently put myself on a hiatus from dealing w anyone because I cant cope with them. Not saying this is a good tactic but I am starting to think 'whatever gets you through' is allowable right now. So if I need to give someone a brutal explanation of whats going on I just do and I am sorry but I cant manage other peoples feeling on top of what is already a havier load than I can bear. I also think that if I just want to ignore and say mm hmm to everything then I do that and I tell myself its really not my primary problem right now.
A strategy forged in desparation. I dont recommend it really in terms of how you should do things. Just that for me thats the bit of the barrel I am scraping and at least it keeps me sane (ish)

Firsttimer7259 Tue 21-Feb-12 20:15:04

sorry that sounds so urgh! of me. Actually I hope you manage a better relationship around this than I am at this time.

thanks for the explanation re aspiration hazey. The only thing on the list that rings bells with my DS is the clamminess. Not while eating food, but when I breastfeed him he gets a sweaty forehead. I'm not sure whether he's aspirating or not but I might mention it at our next paed appointment.

It's hard having to 'manage' family. Because they are invested emotionally in your child, and you, it's very difficult. I feel like I've had a bit of a breakthrough regarding family in recent weeks and it has only come through talking, talking, talking and not trying to spare their feelings by glossing over things or leaving out the details of our biggest fears. It has been very hard but, I think, worth it. Even my Dad seems a bit more engaged. He actually phoned me at the weekend and he was surprisingly on the ball with it all.

I hope it gets easier with your families, hazey and firsttimer, goodness knows we all need the support!

varga Wed 22-Feb-12 22:03:59

Thanks for inviting me to this thread hazeyjane. I wrote a long post yesterday then pressed the wrong button and it disappeared.
I've read the whole thread and was really overwhelmed with the feeling of relief that I finally found other parents with similar children. I already gained lot of important information about the diagnosis system. e.g. I'm no longer so scared about the MRI we waiting for,thanks to you.

Our story: My DD who turned 2 a week ago has hypotonia and moderate to severe global developmental delay.We just got her diagnosis from the developmental pediatrician. Her SaLT assessment came the day before and it says: she presents a significant delay across all areas of communication.Her skills are similar to a child of 10-14 months of age.
It's a lot to take in and sometimes I'm not coping very well with it.

Apart from all this medical jargon my DD is a lovely little girl. She affectionate,funny and just beautiful. She learned to crawl at 16 months,although she was commando crawling at 10 months,it took really hard work from a private physio and her to get there. She sat up by herself at 15 months. She stood up at 18 months and started cruising at 22 months. The physio says that it could only take another 3 months for her to start to walk.
I just can't imagine that,it would be so amazing. She wears piedro boots and they're a massive help for her.

She's going to have a brain MRI and hearing and eye test as well as blood tests. They didn't mention a genetic test,although the dev. pediatrician's first question was to me and my husband: Were you related before marriage? I know they have to ask this but it just came out of the blue then.
How do they do genetic tests?

I could definitely do with some hand holding on this rather bumpy looking road.smile Thanks!

Firsttimer7259 Thu 23-Feb-12 08:52:59

Hi varga waves...glad you made it here

hazeyjane Thu 23-Feb-12 12:47:09

hello Varga, nice to see you here.

It sounds as though you are following a similar path to us as regards testing. Ours kicked in fairly early as it was clear from about 6 months that there was something up. With ds I have always felt as though there was a genetic cause, but once they had done genetics tests (blood tests) to rule out the worst possible scenario, they then said they would do MRI, blood tests (metabolic), eye and hearing tests and it is only recently another paed said we should see a geneticist. I am guessing it is partly to do with the expense of some of the genetics tests.

Every time we go to the hospital, or see a different dr, dh and I are asked if we are related, it throws us every time! They also ask about family history, which is a tricky one, because I know little about my father's family, except that I have a brother somewhere with cerebral palsy and my father had bipolar disorder (I suddenly wondered whether this was relevant recently, as i've never mentioned this to the drs, but bipolar is supposed to be genetic).

Ds is still suffering from the sickness bug, it has completely wiped him out. He is like a rag doll, and I can feel how much weight he has lost, he hasn't eaten since Sunday, and this is our 5th day of sitting on the sofa, with me syringing dioralyte into him. I am getting serious cabin fever!

Firsttimer7259 Thu 23-Feb-12 14:31:23

Oh Hazey, I keep hoping the illness is finally over. Think you might need some addictive DVD boxset with lots of age inappropriate violence to keep you sane. Thinking of you and sending you DS b

Firsttimer7259 Thu 23-Feb-12 14:31:59

to continue...
and sending your DS big get well vibes

LeninGrad Thu 23-Feb-12 16:09:32

Hello hazey, I did read your update on the other thread. Did you ever get any respite? You have to get a break, I'm sure you know that.

All well here thanks, draft statement has arrived, bit woolly and not specified yet, still some way to go but nearing the end of that process. School really not going well so the sooner something changes there the better. Everyone except me ill here too, joy!

Best of luck with the next round of tests and therapies, I hope you get some answers and all the help needed.

hazeyjane Fri 24-Feb-12 14:23:28

Hello Lenin, how lovely to hear from you. I hope that you and your dp are getting bit of a break from it all.

I am fuming here, I phoned to arrange picking up ds's new piedro boots, and found out that we can't see his consultant until May! We haven't seen him since November, and we had to cancel Mon because of this effing sickness bug. Physio cancelled his appointment over half term because the physio was ill, so he won't see anyone until April (last appointment beginning of December), and I have just phoned Oxford to chase up the meeting with the geneticist (referral made in November) and been told no appointment has been made and we probably won't be seen until April.

And I am still syringing fluids into ds, and he is still unable to eat and pooing for England.

You're right about watching a violent dvd boxset, at the moment I am rotting ds and my brain by watching endless cbeebies.

Firsttimer7259 Fri 24-Feb-12 15:20:55

V V Frustrating Hazey. Can you call the physio again and point out the amount of time between appts and see if someone will see you. The boots must be getting small and theres no point having them if they no longer fit the way they are supposed to. IN fact: they could be doing damage (I dunno but figure saying that might get you seen - at least by an underling) The rest is just grrr argh.

In terms of DVDs I must confess to watching 24, the Wire, Buffy (anything really really not for children), with sound down and subtitles on while DD faces the other way. Otherwise I go kerrrr -azy with all that cbeebies. I find watching violence and explosions cathartic at the moment blush

hazeyjane Fri 24-Feb-12 19:34:46

thankyou firsttimer, we have an appointment specifically for a boot fitting next week, but not with ds's physio, and just a 15 minute slot.

My fury unfortunately turned to glumness and then a sob in the toilets in Waitrose (I have a bad habit of sobbing in Waitrose!) I think the last few weeks of illness have got to me, and I just feel very frustrated about the fact that all the promised input is falling away, leaving everything to me, and I feel like I am failing ds.

hazeyjane Fri 24-Feb-12 19:36:35

Oh and I do exactly what you do, usually Buffy (big fan!) or x-files, but ds has just wanted to cuddle so it has been cbeebies or old black+white films.

Firsttimer7259 Fri 24-Feb-12 20:55:35

I really hear you on this. I have poorly timed crying outbursts regularly these days. I think your son being ill plus having other children etc must be totally exhausting (we just have D and I cant really cope tbh) PLus the professionals are leaving you high and dry. I always feel as a mother the buck stops with me so when no one else is doing anything I am still sitting around worrying, reading up, gnawing away at this insoluble problem.
Is there some way of getting you some support? I have noticed various agencies, maybe charities etc that support families around here. I have no idea if they are any good or it helps but they are on my list of things to look into eventually. Even just some regular time off to process whats going on might be good...
It seems like hes been ill so long now and thats so hard esp when things are harder than average to begin with. I know time off right now might not work as he's not well but something for you, sometime soon...take care of yourself hazey.

Firsttimer7259 Fri 24-Feb-12 21:00:26

PS on Buffy have you ever watched Becoming 1 (end of season 2) Just before the end the voiceover goes:
"Bottom line is even if you see 'em coming, you're not ready for the big moments. No one asks for their life to change, not really. But it does.....The big moments are gonna come, can't help that. It's what you do afterwards that counts. That's when you find out who you are."
I have cried like a baby to that over the last year. Big big buffy fan.

hazeyjane Sat 25-Feb-12 11:52:40

oh that is a good quote, firsttimer, i will have to dig that episode out of my boxset. I do miss buffyblush i am probably far too old to be such a big fan!

I struggle with the fact that ds is so clingy, to the extent that at his sn nursery, he barely lets his keyworker talk to him, let alone do any of the therapy that they have worked out for him. Some days I can't even put him down, it is separation anxiety to a ridiculous level. The other week they said they thought it would be a good idea for me to leave the room for a minute, and by the time I came back he was hyperventilating on the floor, and was inconsolable for the rest of the time we were there. He hates being touched by other people, especially his feet (shoe fittings are not fun), the only people who manage to hold him (without a meltdown) are me and dh. It is a killer, because a lot of the therapy sessions we have are spent with ds just screaming.

Can I also confess to an awful feeling of jealousy when my friend's ds (same age as my ds, chromosomal deletion just been diagnosed), started crawling up and down stairs and said his first word. I know it is shit of me and I really am so delighted for him and my friend, but this tiny part of me felt really sad that ds still can't crawl, and is so far away from any speech. I feel like an awful person for even thinking this.

Anyway, enough moaning (where would i be without this thread to moan on!) ds is finally eating and has stopped throwing up - yay!

I hope I haven't scared everyone else off with my awful moaning!

Hope everyone is planning a nice weekend.

Firsttimer7259 Sat 25-Feb-12 12:34:34

Not scared off, please moan vent as much as you like. I was worried my dweeby buffy fan quotes had really put people off. Sorry everyone. Am also far too old for it but I find Buffy v helpful these days. PLus I love it.

It sounds v v tough hazey, esp that you cant really leave him with anyone else apart from your H. I ahve moments of feeling really low when friends children seem to do so easily what just isnt happening round here. I hate being jealous, seems like such a mean emotion amd I wish I didnt feel it as I do. But I think its only natural and sadly we are just human. I feel like there is this expectation (even from myself) that I am going to be this special super duper mummy now and I am not, I am still just me.

Firsttimer7259 Sat 25-Feb-12 12:40:37

PS yay yay yay that he is better!!!

Hello, I haven't been put off by moaning or Buffy either! Sick bug sounds awful hazey, so glad for you that it has passed. Your poor DS.

You know I feel the pressure every day firsttimer to be something greater than I am, to live up to the 'amazing' tag that others sometimes bestow on me out of kindness and pity, to learn as much as I can and do as much as I can to help my DS be the best he can be. It is exhausting. I am tired. Physically, emotionally, mentally, tired.

I am moaning. I didn't mean to. It's all just a bit much today. DS will be 1 next week and the closer his birthday gets the more immediate his delays and difficulties feel. It feels like any hope of a 'normal' future for him is slipping away fast and I find myself worrying all the time that he will never walk or talk. Right now I am numbing the fear with red wine. Tasty, but probably not very helpful.

My blog has been a bit of a misery fest these last few days. I must buck up my ideas...

Firsttimer7259 Mon 27-Feb-12 21:29:43

'M out of ideas mavis, but I am with you. I wish my numbed exhaustedness would lift.

I worried on the appraoch to Ds bday that I would cry on the day, whcih I really didnt want to do. I wanted to celebrate it. But I cried everyday for 2 weeks after.

Firsttimer7259 Mon 27-Feb-12 21:30:17

brewwine[flowers] goodnight

Firsttimer7259 Mon 27-Feb-12 21:30:45

thanks doh!

hazeyjane Wed 29-Feb-12 10:33:09

crap, it turns out ds is in all likelihood aspirating food, the feeding lady came over yesterday to show me the video of ds's swallow. Very strange to compare to a normal swallow. She said that what they could see meant that he almost certainly is aspirating food, which would be causing the chest problems, he may also be reflux aspirating, which can cause scarring on the lungs. there was talk of a gastrostomy tube being put in for a short while, to see whether he can improve his oral motor skills, and his muscle tone may develop, without the risk of aspiration pneumonia and longterm damage to the lungs. But it is all a bit grey, we have to speak to the paeds and weigh up the risks and benefits.

Sorry to hear you have been feeling gloomy, maviscruet, i must catch up on your blog.

hope everybody is well. lets try and have some good positive stuff this week!

Firsttimer7259 Wed 29-Feb-12 11:45:05

oh crap hazey. Sorry to hear this.

Although maybe this will actually help... I dont know much about this (only Dr Google) but if some of your sons' problems are coming from this then this could really provide a solution to that part of his difficulties. Maybe even one that will bridge you over until he develops enough to do without the surgical assistance. It could be a good thing (?) I know you must be feeling low, and surgery will seem daunting. But...something that someone can actually fix for once? I know its still a long way to go before you get to the solution end of this equation but there may actually be one...
I hope you dont see this as me making light of things (and hope I am not being ignorant and insensitive) I imagine you are feeling low at the momnet, but this could be fixable and so ...good(ish) news??

Firsttimer7259 Wed 29-Feb-12 11:47:10

Or surgery will be daunting

But I do feel that surgical interventions is something medicine is actually good at (compared to the less glam day to day therapeutic intervention we are usually dealing with wchih is often much less clear)

Firsttimer7259 Thu 01-Mar-12 12:20:02

Hazey - i hope you are doing ok...

Hi all
I am slowly inching towards something I was dreading - namely the realisation that what we are receiving from the public purse may not be enough. I want ot go through this slowly and not start spending money becuase I am panicking about D but really think that additional interventions may be 'a good thing' and have enough additional impact to be worth the investment.

Does anyone else feel this creeping up on them? One thing I am noticing is that when I start asking about what else we should consider I get told what a good job I am doing. Now that is very nice and reassuring and tbh about 6 months ago I would have wept snotty gratitude all over anyone who told me I was 'doing good' at parenting.
Now I have moved on a bit. I know because of the extent of Ds delays this isn't because of what I am doing/not doing in the usual sense. Its not about whether I breastfed, how I weaned , if we play with her, talk to her, sing with her, read with her.
More subtly its about how we do those things and I need someone to teach me not praise me for the things I am doing that, yes are hard work, but that aren't working.

Hi all

Hazey, sorry to hear it was bad news re your DS aspirating. I know I would be feeling anxious about the prospect of surgery and learning how to manage the tube day to day. It's a lot to think about, wondering whether surgery is the right thing etc. Our little ones go through so much as it is. I don't know what my decision would be if/when I'm in your shoes. But I do know that aspiration pneumonia is not a good thing. The fear of that may drive me toward the surgery.

firsttimer I think there is always a feeling that one can be doing more. That feeling, for me, is exacerbated by not knowing exactly what is up with DS and therefore not having any boundaries. If only I can do more, I can keep on improving his development, so thinks my little head... so what is provided by the state (while it seems to be top notch in our part of the world), never quite feels enough.

And of course there are private options out there. Sometimes I feel like I just need a bit of a boost of support from an expert who can equip me with a few more skills, and if paying for that privately is the quickest, easiest way and the money is there then I can quite see how you'd want to seek out some additional help.

But it also has to be weighed up against just how many appointments and how much input you can handle. There is a limit to how much is useful I think before it becomes overwhelming.

hanbee Wed 07-Mar-12 11:31:36

Hi Hazey, sorry to hear your news but perhaps it might be the door to solving a few problems. Easy to say I know.

Firsttimer, I too feel like you. It wasn't until I had DS2 I realised how much input I was giving to DS1 for so little developmental progress. For now I'm concentrating on just doing fun normal things with him as well as the projects set by portage. His physio has just said there isn't Amy exercises to help him progress and he just needs a lot more practise than most do I've started taking him to a gym club that runs preschool sessions- he loves it and is really encouraged to try new things. He's 3.5 now and attends a mainstream preschool 3 mornings a week which he loves. It's brought him on leaps and bounds as well as given me a chance to be less full on. He's due to start at a Child Development Centre nursery in September which I've Bern told it quite intensive. I figured he still so little we need to make time to have fun!

His paediatrician popped round to our house yesterday to tell me his genetics results (how's that for NHS service!) he has deletion on chromosome 6 that isn't on the list of known benign variations or on the list of known variations that cause problems. DH and I now have to have an array done to see if it is a benign inherited change or a de novo fault but a little googling and made me suspicious that this could well end up being a diagnosis. If so as he'd be the only one with this particular variation and so it would still leave us unsure of what the future might hold for him sad.

hazeyjane Tue 13-Mar-12 13:37:07

Gosh, sorry hanbee i hadn't seen your post.

getting some sort of result, must have been a huge bundle of mixed emotions. I know nothing about chromosome 6, have they said in what areas they think ds may be affected? I have a friend who received the news that her ds has a chromosomal anomaly that has never been seen before, she said it has left her feeling as uncertain as when there was no diagnosis, but she said the Unique website has been very helpful. have you a follow up appointment with the geneticist looming?

We have had no progress with regards to seeing anyone to talk about the videofluoroscopy results, ao i feel as though i am hanging in midair, ds has just got over his 3rd chest infection of the year. It feels strange having no appointments to go to!

hanbee I was just reading the blog of a family who have a little girl with a deletion on chromosome 6. I know they are all so different, but here's the link in case you fancy a read hope4katy.com/

We have our first genetics appointment coming up in April. I am not sure what to expect really. DS has already had a microarray which showed nothing so it's going to be a needle in haystack scenario I think. I can imagine you must be full of mixed emotions now that 'something' has been identified but doesn't offer you a clearer picture.

I was thinking of you the other day as we were down your way looking at houses. We are down again on Friday for a whistlestop visit to view two houses and then I think we may put in an offer on something. I have found a brilliant guide for parents of children with disabilities compiled by Cornwall County Council which is making me feel a whole lot better about managing things for DS when we move. (Let me know if you'd like the link, I'd assumed you probably have it already, but it is fab).

I was brave and took DS (and DD) to a special needs playgroup for the first time today. I was dreading it but it was absolutely wonderful. Lovely, lovely people, great facilities (they even do a hydrotherapy session at the end, with helpers for those who have brought siblings). And... <drum roll> proper fresh coffee and lunch for all. French bread, hummus, salads, the lot. I have never been to such an awesome playgroup. In fact I actively avoided them with DD as they were mostly nightmarish, but this one I think will prove to be a lifeline.

In other news, DS is now 1. And still not sitting up. We are working on it grin.

How is everyone else? It's quiet here at the moment...

Firsttimer7259 Thu 15-Mar-12 10:52:37

Hi all I posted a while ago but lost the post
Hanbee I hope you are getting your head round it slowly. I dont really know what will help.
How are things going regarding the gastronomy tube hazey? Any ideas yet on whether its a good way for you to go.
I am easing back after an intense period of thinking through everything we are doing etc. I need to stop obsessing now and just see what progress we make. The nursery and HV are arranging a meeting of everyone involved in DDs care. I hope that will make me feel clearer about where things are at...
The functional learning programme has been going on for five weeks now. The first three were just with the book, now we have a therapist who works with us fortnightly to show us the techniques. H and I both feel there is some improvement. There has been more progress this past month than over the previous 2 months. But its hard to specify and when you invest time and money there is a huge bias towards thinking something works. But she seems more alert, more tuned into her hands and into doing things. Shes clapping again too. Its nice, she is just lovely.
The playgrounp sounds a-mazing missmavis.
I feel like I am having something like a breakdown, I cant thnk, I obsess about what to do, Im tired all the time. Ive started some st johns wort to try to take the edge off my feelings (I know from past experience that it works on me) but it will take a bit of time for that to build up. In the meantime I am flailing

hanbee Fri 16-Mar-12 13:46:08

Hi everyone

The result took me by surprise as I'd heard so often they show nothing and the paediatrician had primed me that often they don't ever find a cause for developmental problems. At moment as we don't have a clear "yes, that is the cause" I'm just not thinking about it. I've been very good at not thinking as I spent two years obsessing about it and it was too exhausting!

Firstimer, you sound like you're on that path and maybe need some help? Please don't take that the wring way; it's just it's sounds like everything is overwhelming you and that can be the beginnings of depression. Hope the St Johns Wort works. for you, my brother suffered from
Depression and still has anxiety issues. I know he found it helpful, he also talked to someone weekly at the charity Mind and did some Cognitive Behavioural Therapy that really helped him change his negative thought process.

Thanks Mavis, I had seen the blog and found the comments section particularly useful as it highlighted to me how different the outcome is for each individual. I do have a copy of the council booklet thanks, also here the council offer holiday activities not only for disabled children but for groups of siblings too. They're nearly all for school age children but look really good, it's called Aiming Higher I think. The preschool sounds fab, they should have ones like that everywhere!!

Anyway I'm off to munch my way through the chocolate fairycakes DS1 made at preschool today for mothers Day. Yum.

hanbee Fri 16-Mar-12 13:48:38

Sorry for typos and absolutely terrible grammar in my last post, I'm on my phone. blush

hanbee, a very quick off topic question - I don't suppose you can recommend a good conveyancing solicitor in your neck of the woods? We viewed a house today, put an offer in and had it accepted!

More later xx

hanbee Sun 18-Mar-12 17:50:21

Oooo how exciting Mavis! Sorry I can't recommend really as we used one that was near our old house in Worcestershire. The one our sellers used was rubbish IMHO, really slow and kept "forgetting" to get answers to questions.
Good luck with the purchase, hope it all goes smoothly.
Han

used2bthin Mon 19-Mar-12 20:25:43

Hi all, just been having a quick read over the last couple of pages, not been on here ages and saw the thread, thought I would catch up.

Sorry to hear some are having a hard time of it all. Firstimer I hope you are feeling better? I felt very similar when dd was little and saw the GP who wanted to see me weekly for a bit, it did help as I knew I wasn't alone with it iyswim.

I am feeling we haven't got very far in terms of diagnosis since I was last on. the small deletion on chromo four that was found turned out to be a red herring as I have the same. I am expecting DD2 and the geneticist said she will see us again before baby arrives but has come to the end of the things she was testing for really-which I know is good but no answers still to her learning difficulties.

The MRI was normal, unlike the EEG,still not started epilepsy meds that were recommended as her genetic disorder has been a nightmare to manage, her steroid doses have had to be increased a lot, we've been in hospital way too often with various bugs.

We have an appointment with the neuro disability team in june and I am hoping for more info after that but not convinced it will happen!

Firsttimer7259 Wed 21-Mar-12 13:41:46

Just thought I should update that I am feeling a bit better. Thanks for the support on here.
Ive been in London for a few days, work plus friends. Its done me a world of good. Reconnecting to people and leaving behind this obsessive worrying for a bit. I needed to review a bit what progress we are making and think through what I think ought to be done. But now I am planning to get back into my life for a couple of months and revisit this when its had a chance to have an effect.
It seems crazy how much is unknown about genes, devlopment etc. The not knowing is so hard.
Anyway hope everyone else is alright.
Hazey any news regarding the tube yet?

used2bthin Thu 22-Mar-12 13:06:44

It is crazy isn't it, my dad has found it really hard to take as he works in mental health and thought neurology would be far more straight forward and it just isn't.

Sounds like a good plan you have there. Someone on here once advised me to do something similar when I was agonising over when to have dd's op, she said give myself a set time to not think about it (I chose a week) then come back to the process afresh. It really helped.

Hope you find some relief from it all x

hanbee Thu 22-Mar-12 20:56:08

Sorry guys off topic - Mavis, just seen your other thread about where you're moving too and you'll be about 10 minutes away from me!! You must message me when you move, happy to meet for coffee show you the places I've found in the last year. Actually feel really excited for you as SG is a really lovely place! Yay! blush

Brilliant! A friend smile. We won't know anyone at all except for my mum when we move. Hurray, hurray, will definitely msg you when we move. We're at that agonising stage of mortgage documents, surveys etc...

Hayley16 Sun 25-Mar-12 18:57:33

Hi all!
Not been around for a long time but thought this maybe of some interest http://www.dailymail.co.uk/health/article-2119800/The-SWAN-children-Each-year-affects-6-000-British-children-doctor-diagnose-cure-it.html
Article in the daily mail on undiagnosed children(features my son Freddie) Worth a read.
Hope everyone is well x

Hi there!

Lovely quote from you in the Mail article today. I thought it was a really good piece. Hard for many correspondents to get enough copy space to properly explain the issues but I thought the journalist did very well with communicating the story. (Can you tell I work in PR? wink.

I have shared the article with quite a few friends and they have all said it's really helped them to understand what's going on with my little boy.

Hope you don't mind Hayley I have copied the link again to see if I can make it work. Pesky things, I always struggle with them on here! www.dailymail.co.uk/health/article-2119800/The-SWAN-children-Each-year-affects-6-000-British-children-doctor-diagnose-cure-it.html

Hayley16 Sun 25-Mar-12 21:57:42

I'm glad smile Do you blog missmaviscruet? Pretty sure i've read your blog & i follow you on twitter?

I do! Yes we follow each other on twitter and occasionally I link to my blog from there too. I think your blog was one of the first I read and thought 'yes, that's just like my boy!'

I'm in the FB group too. So glad to have found the SWAN group...

Firsttimer7259 Mon 26-Mar-12 14:32:18

Nice to see you Hayley. Nice also to see a decent length article in the mainstream press. I hope Freddie is well and you are ok xx

hanbee Mon 26-Mar-12 22:01:34

I think that's the first time I've read a daily mail article that didn't make me angry!! Great quotes Hayley.

hanbee Fri 30-Mar-12 19:36:48

Hi everyone,

It's quiet on here (watches tumbleweed blow by).
We had Jacobs first Team Around the Child (TAC) meeting today. Found it oddly stressful but I'm not sure why. Think just found it depressing that I face a future of having meeting about my son and fretting he won't get the services he needs/deserves. What's everyone elses experience of these things?

used2bthin Sat 31-Mar-12 07:42:17

Hanbee, we don't have TAC meetings exactly (I know a bit about them due to my job) but have a similar thing now DD at school, to review progress and statement etc. I always dread them but they often leave me more focussed iyswim? Otherwise I can get muddled up and overwhelmed with all dd's different needs that I can't thhink straight.

Do get frustrated though about provision.

hazeyjane Sat 31-Mar-12 10:39:12

Have just come back from last minute weeks holiday at friend's holiday cottage, got permission to take girls out of school and have spent week on beach, on river and eating cake - heaven - but exhausting, ds is hard work away from home, and was very unsettled and clingy, plus he and girls slept badly, throw in ds's 5 am starts and dh and I need a holiday we are so tired!

Hello Hayley, the Mail article was very interesting, it is so true how hard it is for others to understand when there is no diagnosis. The other day a very close friend, kept saying, 'but ds will catch up, I mean it's not as though he is actually disabled...', I know she is trying to be positive, but it seems to minimise the experiences we are going through - 4 hospital appointments in 2 weeks, having to decide whether ds is fed through a tube in his stomach, an inability to chew and swallow food properly, piedro boots to try and stop his feet clenching into balls and speech still at the level of a 6 month old. If ds had a diagnosis then at least we would have a hook to hang all these issues on - but if I say something like this, people say we are being negative and trying to 'label' ds.

Hanbee, I felt so positive at ds's first TAC meeting, all those professionals there to help ds, and a real plan of what therapies would be in place and what tests were needed. The trouble is over the course of the year, ds's needs have changed and it feels as though all the support has fallen away. I think part of the problem was that his lead professional was picked for us and she has been appalling at keeping in touch, and chasing up the things we needed chasing, leaving me to try and work everything out. I have asked for another TAC to be called next month, to try and bring everything back together, and update where ds is now. I feel as though this time round I will be a bit more kick-ass about the whole thing. On the positive side it is really good to get all the details of all the professionals involved, and get a chance to co-ordinate the care.

The report came back about ds's feeding, and the feeding SALT recommends a gastrostomy, as does his consultant. Ds's SALT has given us some advice on ways to try and minimise the aspiration and has advised upping the amount of exercise (swimming 3 times a week, lots of soft play etc) to try and improve his muscle tone, also to find out about chest massage. But she said that probably one more bad chest infection will tip the balance to getting a tube.

Our genetics appointment has finally come through for Fri 13th April (repeats -I am NOT superstitious!), it is in Oxford and in school holiday time so we now have to find someone to look after the girls between 8am and 2pm -aaaargh!

Hope everyone is ok, sorry that was such an enormous post!

hazeyjane Mon 02-Apr-12 19:52:40

Hello, don't know if anyone is around.

Had a difficult first day of the Easter holidays, dds were full of beans and ds was just such hard work, out of his normal routine I seemed to fail miserably at keeping any of them happy. So we went to the park in the afternoon to feed the ducks and have an icecream, the genetics nurse rang my mobile whilst we were in the park wanting to ask tons of questions pre next Fridays appointment. I should have said i'd call back later, but everyone was happyish so thought i,d get it out of the way. 40 minutes later, I felt thoroughly depressed having gone through the reasons why i have no contact with my father or his family, his mental health issues, my molar pregnancy and fertility problems, ds's birth, my subsequent pnd/ptsd. It was grim.

I came home and felt a huge sense of gloom about meeting the geneticist, I feel as though whatever is going on with ds has a chromosomal basis, but I have a feeling we will come away knowing nothing more. Reading that article about SWAN has nade me feel a bit desperate to be honest.

Anyway, I am watching Buffy, drinking a glass of white wine and lovely dh is cooking me tea - so it can't all be bad!

Hey Hazey, I'm here also sat in front of the telly with white wine, DH cooked dinner and I've had a glass of white wine! We have our genetics appointment tomorrow and I am very nervous about what we are going to have to trawl through in terms of health history and questions, especially as DD will have to come with us as we have no-one to watch her. I too have patchy contact with my father (he lives abroad), and no contact at all with his side of the family.

Feeling a bit miz tbh. Not helped by having a really sore throat. On the upside, the next series of Made in Chelsea starts at 10pm tonight so if I'm still awake then that will be some light relief!

Sorry you're feeling down Hazey. The whole gastrostomy thing is a lot to deal with and think through and doubly difficult because eating via our mouths is such a normal thing to do, and via a tube (while it is a wonderful thing and lifesaving for some) is a big jump away from 'normal'. I completely understand why it's a difficult decision for you.

I should be feeling more positive than I am. DS has done really well this week with rolling everywhere, babbling and sort of flapping and scrunching his body on the floor as if trying to pull himself into a commando crawl. Very far from actually moving, but the intent is there and as far as I understand it this is a good thing.

hazeyjane Mon 02-Apr-12 21:45:03

Good luck tomorrow, it is hard going through it all every time you have an appointment, I hate the not knowing which way this appointment is going to go feeling. Let us know how you get on.

It is fantastic that ds is doing so well. How is his sitting? I remember when ds first sat (at 12 months), it was amazing to me to see him suddenly take an interest in toys, previously to this he really wasn't bothered by much, and seemed to just want to be cuddled. He also started to be frustrated about not being able to get things and his physio said how important that frustration is, because that will be what motivates him. Of course it is now that frustration that cause him to screech and scream that he can't express what he wants or move to the place he wants to be!

I'll be thinking of you tomorrow.

thanks hazey! His sitting is coming on, slowly. He can prop sit (hands on floor in front of him) for about a minute, or can sit with me holding his hips for quite some time, enabling him to reach out and play. You are right the sitting makes a huge difference to their ability to play doesn't it? Oh gawd, yes, the frustration is going to get harder as they get bigger I guess. Will update tomorrow eve xx

used2bthin Tue 03-Apr-12 07:50:33

Hazeyjane the geneticist we have in Oxford is so lovely. I know that isn't much compensation but it does help. She also hasn't given up despite all tests so far not being particularly conclusive and she is always good at being on the phone if I have a worry or think of something else. XP is adopted so we had a complicated family background too it is horrible answering so many personal questions.

Missmavis I hope your appointment goes well too. I hate this building up to appointments and decisions thing its awful isn't it. Its exhausting emotionally.

Another one who had a bad start to the holidays, yelled at DD for doing something that really wasn't her fault but to do with her general confusion (and obsessions) then went to a friends house where two girls DD has known since before she was two were so out of her league play-wise that she played with my friends two year old instead. The two year old's language skills and play was actually a bit ahead of dd tbh and Dd lashed out, I ended up bringing her downstairs with me and then worried that my friends thought I was soft on her for hitting out. I am thinking, sice dd is in mainstream school (with a lot of support) for now then I should concentrate on seeing other families with SN outside of school and see my friends seperately.

Well, must be something about geneticists, the one we saw today was an absolute gem. She has put us forward for the DDD study and took a very thorough history, examination and photographs to share with her colleagues before deciding between them what tests to order.

Given DS has already had a clear CGH array, her opinion is that we're looking for something on a single gene. She was very positive about the fact that his development is continuing on an upward trajectory. So, no new fears or worries just yet. It was, strangely, one of the less stressful appointments we've had with DS. Might be something to do with the fact it wasn't in London... also good news, our geneticist says she has a wonderful colleague based in Cornwall who she will refer us to when we move. So that's that box ticked.

usedto, I know how much easier I find it socialising with parents of SN children (actually, it was a revelation), I can completely understand your feeling. Hard to know what's best. I know for me I still like to involve DS in as much of my 'normal' life as possible as well as going to SN playgroup etc, but there will come a point where for him it might be more difficult than it's worth. I've forgotten how old your DD is, sorry, my memory is awful at the moment!

hazeyjane Wed 04-Apr-12 09:52:00

mismaviscruet, I'm glad your genetics appointment was positive, and that you will be able to be seen in Cornwall. I am interested in the DDD thing you were put forward for, had you heard of it previously? I am panicking already about next weeks appointment and what questions to ask, I think i'll start a thread.

Also great that she was positive about ds's progress, how old is he now? I seem to remember ds having little leaps in development after about 14 months old, when he just seemed more interested in stuff. One of the horrible things about him having chest infections is that for a few weeks he just seems to slump, and show no interest in anything.

The playdate thing sounds hard, sign, I suppose at the age ds is most of the difficulties of meeting friends with similarly aged children is the fact that it is difficult for me to see how different ds compared to his peers, but I imagine it will be harder for him as he gets older. I am very lucky that a friend introduced me to a woman who lives locally, who has a ds the same age as mine, and with similar difficulties, we instantly got on, and our ds's go to sn nursery together.

Firsttimer7259 Wed 04-Apr-12 11:14:56

Hi everyone, lots going on I see. Hazey I hope you manage to somehow get some rest in there. Nice to see someone have a less stress appt for once missmavis.

I am increasingly feeling I cant really relate to people with NT children. On the one hand I think as our girl gets older the differnce becomes more apparent. Before you couldnt really tell, now I find her blankness/oddness is just more noticeable. I find it so painful to watch other peoples children just do stuff that I am dying for DD to do. I so wish I didnt feel like that but I do, I cant help it.
I am also constantly angry with people for telling me to be positive. My sister was going on about maintaining perspective and positivity and I just wanted to smack her one. Its just: they have no idea what this is like. They dont want to know. And somehow they seem to want me to make it better by giving it all a nice happy sheen about how its all going to be ok.
I am not saying it wont be ok, there is still a chance, but I listen to Reality FM these days because I have to. So I stick a bit to my own company at the moment.
Arrrrgh rant rant rant rant rant rant rant rant RANT!!!!

hazeyjane Wed 04-Apr-12 12:24:12

Oh I know what you mean about the positivity thing, dh came home the other day slapping his head with frustration, because he had just had a conversation with a friend about the possibility of ds having a genetic condition, his friend said, 'ok so if that's the case what will the drs do?' Dh tried to explain that if ds has a chromosomal disorder that that would be it, there isn't a magic pill, to which his friend said,'but you have to stay positive, I mean science is making advances all the time in this field'. He said that he felt as though he were being really negative, which is the very opposite of his nature. The thing is we have to be realistic.

I have no choice about keeping up with my friends with nt children as they are the mums and dads of dd1 and dd2's friends, who also have dcs a similar age to ds. At the moment I am thinking that ds will attend mainstream preschool and school with these children so I want him to socialise with them and be happy around them. My friends are lovely, but it is hard when they don't 'get it' in the way that my friends with sn dcs do (and I include my mumsnet friends in this!)

After having ds I went into a bit of a downward spiral, and ended up on anti depressants, one of the things I found most difficult about the whole thing was not wanting to be around my friends, I can't cope without them.

Firsttimer7259 Wed 04-Apr-12 13:07:26

I miss my friends but I find it so hard being around people right now. Its not good and possibly a symptom of depression but ... A good friend told me she thinks people find it very hard to think/see bad stuff happen to good people so when they see something terrible happen to you it just doesnt compute. So they either try to find ways in which you are 'bad' and so deserve what is happening (the 'I talked/sang/whatever stimulating activity to mine all the time' school of responses) or they think that whats happening to you isn't as bad as you make out (the 'she looks so normal/Im sure it will be fine' bunch).

The worst thing I find for myself is that with the second bunch I feel like I almost want D to be visibly worse off just to prove my point. ("Look! look! Im not nuts,it IS bad, really really bad"). Because if she catches up in the next year they will all be 'see told you not to worry'. Then I feel ridiculous - in the end I would give my arm for her to be fine come next year. But I hate that my family basically thinks Im a neurotic drama queen mother

hazeyjane Wed 04-Apr-12 13:55:06

Just so you know you are not alone, Firsttimer, I have felt exactly the same way about ds. My friend is shocked if I use the word disabled about ds, as though I am in some way damning him to a life of disability by using the word - it drives me mad. It is like when you get a result saying that something has come back as all clear or negative, people expect you to be popping the champagne and can't understand the sense of disappointment - but it is a mixture of relief and frustration that there is no answer, the problems are still there, but there is no clear reason for those problems.

I worry that everyone thinks I am a neurotic nightmare of a mother as well,it is hard not to when you spend half your life at the drs/hospital talking about the minutae of your ds's health!

Firsttimer7259 Wed 04-Apr-12 14:23:28

Thanks hazey it means a lot that someone else understands this as I often feel really bad about it - how can I wish her worse/not well...
Of course thats not actually what I wish, I just wish for something people could see.
I told our lovely newsagent lady a few weeks ago that D has additional needs. D often blanks her greetings etc and was getting too old to shrug that off. Lady was lovely, said something nice about D and also that she had wondered if something was up. I was glad to get it out the way - it had been bothering me and I had been debating what to do. I dont want to go about telling everyone and I dont want to have these conversations with D there. But I was in tears on way home. Its these things I cant explain to anyone: how it wears me down, upsets me for days, how I dont know what to do, how I cant stop worrying because I feel its my job to do my absolute best for her.

used2bthin Wed 04-Apr-12 16:00:19

No time to post properly will come back later but argh with you on the positivity thhing it is actually quite insulting at its worst although I think most people mean well with it. I remember my aunt keeping on telling me I had to be positive when dd was diagnosed with her genetic condition shortly after birth. I had a newborn with a potentially life threatening and hard to manage condition ad it felt like she was telling me off for not dancing for joy!

used2bthin Wed 04-Apr-12 19:39:29

Mismavis I am glad the appointment went well. What is the DDD study? DD is 5 and a half. I have decided tomorrow I won't meet my friends who will be at a childrens centre with thier DC, I will take her swimming I think instead-can't face the stress this time but will feel ok to do that given I saw them all (child free)yesterday.

Firstimer I also get the wanting to stay away from friends thing it is awful and I often find I feel better when I do, depends on the day. We moved a couple of years back and I didn't hesitate to leave friends behind (only to a nearby town)because at the time I wanted to not see the difference in children and wanted to protect dd somehow, can't really explain it but I then missed my friends and we have now settled nearer to them again, just not on the same road like before so its less painful. Obviously there were other factors involved in the moves but I know the way I was feeling about dd was influencing it, I'd just had an assessment that found her to have "profound" difficulties and it came as a massive shock at the time despite the fact I am certain all my friends thought I knew, I was in denial till then.

The DDD study is 'Deciphering Developmental Disorders' - all the regional NHS genetics centres are trying to recruit 12,000 undiagnosed children to have their DNA sequenced in the newest ways to see if they can find new diagnoses. Because they are looking for common results across the sample, the study is likely to take about 2 years, but I have heard some can expect results back in about 6 months. You get put forward for it by your geneticist and then get a pack in the post to take saliva samples from the whole family.

That's pretty much all I know but that was enough to want to put DS forward for it. I knew about it prior to seeing the geneticist, via SWAN UK, but the geneticist mentioned it before I asked, so I expect that any of you with a genetics appointment coming up may also be offered it.

The website is quite good and worth a look www.ddduk.org/

Everything you guys are saying about seeing friends rings true. I have found that since I started writing my blog that a lot of my friends have a better understanding of what's going on with us. I think it's because it gives me the chance to write about things without feeling like I'm dominating conversation with DS's issues, and also answers questions for them that they probably feel uncomfortable asking. Not all of them read it , of course, and it took a while for them to even realise I wrote it as I never mentioned it, but I'm glad now that it's there as a means of communication. Keeps the doors open in a less awkward way somehow.

used2bthin Wed 04-Apr-12 20:09:43

That makes sense about the blog. I like people asking me about DD's issues although sometimes when it comes to it it makes me feel out of breath talking about it-like a panicky breathlessness and I have to down play it. It probably puts people off asking!

The DDD study sounds interesting. I will ask our geneticist when we see her.

We have an appointment with the neuro disability team coming up AKA the community peads, I phoned to ask about multi disciplinary assessments as DD has never had the full 5 day thing which others here seem to get, they said its usually for pre schoolers. Hope we haven't missed the boat because she has been seen by them since three so am not sure why we havent been offered one.

hanbee Wed 04-Apr-12 22:00:57

Nice to see you all again. Mavis, glad the appointment went. It is great when you feel like someone is interested in making things happen for your child, too often it seems to be a drawn out wait and see attitude whne nothing seems to actually get done. The study sounds really interesting, I may just go and email that link to our paediatrician who STILL hasn't referred to a geneticist

It was iteresting to read all your thoughts about friends etc. I feel exactly the same way. Before I moved I still saw my NCT friends almost every week and it became harder and harder watching DS1s peer group leaving him behind, he was always excited to see them but they played and talked together in a way he just couldn't join in with. It made me so sad in way it was good to move away and not have to deal with it.

Now everyone who knows us has known he has additional needs from the first time the meet him. I make a point of telling everyone as I would rather talk about it than know that a minority will be asking/wondering about it behind my back (the joys of village life!). However, I now find myself arranging to meet for play dates whilst DS1 is at preschool, I just go along with DS2. I sometimes feel guilty about this, but I known that I need some time to feel like a "normal" parent, DS2 needs some time with other children that's not dominated by my coping (or not) with DS1. It taks a lot of effort to make sure DS1 can access activites that other children can just "do" and sometimes that can kind of take over.

Firstimer, for a long time after I had DS1 I regularly spend hours crying about the fact that something was wrong, I felt nothing would ever be right, I would never be happy because this terrible thing had happened, I also avoided going to things and seeing people. When I got pregnant again we had be constantly reassured by paediatricians that DS1 was just a late developer, sadly this hasn't turned out to be the case. Having DS2 was and is incredibly hard work as DS1 (3.5 yrs) is about 20 months in terms of development and DS2 is an advanced 17 months. Its like having twins but with DS1 having very limited speech he gets v frustrated and this turns into hair pulling/biting which is normally aimed at DS2. I don't regret how hard it has been and still is because DS2 has given me a "normal" parenting experience, he does all this things the books say he should do (!) and then some, he's given me the chance to go to toddler groups and be like everyone else. Now I'm not saying have another child at all, and I'm not saying I don't still have loads of time when I feel very very sad and wish things could be different. I suppose what I'm trying to say, in a very long winded (sorry) way is you won't always feel isolated and crushed in the way you do now. Things will change.

Lastly, re the TAC. I kicked myself up the bum and realised that I felt negative because, both DC had been up most of the night so I'd had no sleep, I'd had to leave DS1 coughing so much he was being sick with my Mum so I could go to it, and I had PMT. Have looked back on the action list and outcomes and realised it was quite positive really.

Hugs from me to anyone who needs one, I'm off to bed - night!

Firsttimer7259 Thu 05-Apr-12 11:12:54

Thanks everyone, the support on here really keeps me going. I guess I am waiting for something somehow to help me get over this.
We are having a depressing couple of days. On sunday we trekked off to our functional learning appt. Its in another town so really a trek. And poor DD cried her way through the whole hour in a rage because she did not want to do the exercises. Then on tues was the monthly appt with the physio - who this time doesnt see much progress - even tho this month we have put extra effort into walking her between things at all times, taking outside to walk, encouraging her to walk rather than crawl.
This morning we did our usual learning play session and it just felt grim - stoic, but grim. We've been weepy all week and wondering why then my H said its the learning sessions that make him weepy - and he's the optimist in our household.
Its hard to put so much in and wonder if anything really is coming out of it. I think when we make progress it feels like its all for something. When we dont its like an abyss. We work and worry and wait and whats it all for?

And then she is so heartbreakingly lovely...and I feel like other people cant see that. Maybe even I dont see it enough.

I hate to say it but I do think/feel that part of the reason my family are being so odd with me is that they cant deal with her being SN. So they dont really bond, or learn how to interact and bond with her, they just sort of ignore her and shrug off that they just dont 'get her', or that the way I am prevents them from connecting with her. Part of me thinks its bull, they dont like her cos she isnt NT. They'd never admit it but thats what I think.

hazeyjane Thu 05-Apr-12 14:30:26

God it's tough sometimes isn't it. I'm afraid I am rather burying my head in the sand wrt therapy atm. The dds are off school for the Easter holidays and so our days are a lot less structured than usual, the good thing is that the dds interact with ds really well, so dd1 likes to sit and read him books and dd2 can lie on the floor and roll a ball towards him endlessly!

I sometimes have the opposite with our families, in that they constantly talk about how 'special' ds is, and make a lot of fuss of him, when they have never made that much of a fuss of our dds.

Can you and dh take a few days over Easter to just do some nice fun stuff?

Firsttimer7259 Thu 05-Apr-12 14:40:36

Youre right hazey. I am going to spend the weekend just enjoying her. And doing that thing you do as a parent where you secretly think your child is the most gorgeous child ever seen upon this earth! I think I need to do that.

used2bthin Thu 05-Apr-12 20:39:33

My family are in denial too, well some are-they say oh she's brilliant at such and such then don't believe me when I say well she is behind in every area and the amazing thing she is doing is age approprate for a child three years younger! But then others ask whats being done, when will we know, should we be doing more, time is ticking that kind of thing as if I am not already running round in circles.

They are alright really most of the time though and its only a few people who do those things. Interesting to read about other children as am due in June and my parents absolutely dote on dd, she is an only grandchild and with being quite scarily poorly at times is very much treated as special.

Good plan to try and spend the weekend enjoying dd firstimer,I feel I spend so much time looking at dd with worry then sometimes she smiles and its amazing, it all vanishes.

This weekend I will be mostly getting married! So will be very busy! Am terrified that dd will get ill and need hospital or something, better just not to think about it probably!

Oh wow used2, have a wonderful, lovely wedding! Hope it is a very special day for you all xx

used2bthin Thu 05-Apr-12 21:46:25

thank you! Am terrified but getting a bit excited now its coming together a bit more.

hanbee Fri 06-Apr-12 08:34:31

Have a fantastic wedding used2, I hope you will have the most wonderful and memorable day.

Firstimer, that sounds like a good plan. Someone on mumsnet sn board once said to me, he's still so little you need to make sure you still do the fun stuff, cuddles and tickles you would do if you didn't have the issues. It made me move away from just focussing on progress, learning, exercises and made everything much more enjoyable for both of us.

I'm lucky in that my Mum is fantastic with DS1, firm but loving and totally understands the reality of his issues (she ex-teacher and preschool advisor!). My Dad struggles with why he behaves as he does and why he doesn't learn in the same way not to do things, but then I don't think he was ever very in tune with children! My in-laws were in denial for ages and still now when I talk about his difficulties say "but he's lively though" as if I'm saying that he isn't because he has a disability. I do find it annoying but just ignore it and seeth silently!! They're great with him though. I do know I'm really lucky, I must remind myself more though.

Happy Easter!

hazeyjane Fri 06-Apr-12 09:40:10

Gosh, Congratulations Used2bthin - I hope you all have a fantastic day!

hazeyjane Fri 06-Apr-12 09:40:56

And

Happy Easter everyone

I hope we are all doing lovely things with our amazing dcs.

Firsttimer7259 Fri 06-Apr-12 13:50:58

Congratulations used2 I hope you have a wonderful day

Happy Easter to us all

hanbee Tue 10-Apr-12 19:35:31

Hi everyone

Just had an excellent day with DS1 who had his first one to one swimming lesson. Our local pools only offer lessons from age 3 and the children have to get in alone with instructor on the side. As DS1 can't access this and in the interests of equality I've managed to persuade them to give us reduced cost one to one lessons.

It was excellent, instructor was fab with him and even has some rusty Makaton and most importantly he LOVED it. Massive grin and fifteen minutes of screaming in excitement!
After half an hour he was kicking his legs and flapping his arms and even managing to stay the right way up on his own for short periods. I couldn't believe it. gringringringringringrin

Firsttimer7259 Tue 10-Apr-12 20:36:40

Lovely Hanbee grin

Thought we should also note on this thread that a few days ago (when exactly?) Hazey Jr crawled!!! grin

Nice to have some good news!!!

Wonderful hanbee! I can't wait to get DS in the pool again, he responds so well to the water. Sounds like your DS1 had a brilliant brilliant time and since he's confident enough to be kicking about all over the place it will do wonders for his muscle development.

hazeyjane Wed 11-Apr-12 08:56:56

Aw Hanbee that sounds amazing! I try to take ds swimming twice a week, and we have access to the pool for the school my dh works for, so we are going to try and all go on a Sun morning as well. His SALT said it is one of the best forms of exercise for children with low muscle tone, as every movement they make in the water is toning them that much more, and we are having a push to try and improve ds's overall tone to help his swallow. I find it very different having ds in the water to the girls when they were little, they wanted to splash and automatically kicked there legs and arms, but ds just seems to hang in the water, so I have to move his legs in a kicking motion myself. I would love to find a swimming session with disabled children in mind, so that I could get some guidance in how to make the most out of our sessions. But I don't want to push ds in such a way that it just seems like more therapy, I think it's really important that he just enjoys being in the water.

Yes! Ds crawled!!! We have been on a high ever since, it has been an odd leap forward, as until now he has shown no interest whatsoever in crawling, but we diligently try it every day, putting him on all fours, and between dh and I (or one of the girls) we have been moving his legs and arms in a co-ordinated crawl, we also discovered that he enjoyed us crawling him up the stairs, so have been doing that every day (a killer for my back!)Then over the weekend he just crab crawled across the floor to get a ball and suddenly he is independently mobile, it is wierd normally he can only get somewhere if I am holding both his hands or he has his v-tech walker (which is way too small for him), but now he can move across the room on his own, although by the time he has reached his objective he is usually too knackered to get himself back up again!

We are seeing the geneticist this Friday, so any tips about questions to ask, would be great.

Hope you are all good and full of chocolate.

Firsttimer7259 Wed 11-Apr-12 17:33:33

Hope you dinn't mind me reporting your news hazey?...I was a bit over excited and wondered whether you'd be all 'modest parent' and so hadnt said anything.

hazeyjane Thu 12-Apr-12 06:02:53

No,no not at all Firsttimer!

How is everything?

Firsttimer7259 Thu 12-Apr-12 12:27:12

Things feel tough here, progress is very slow. Sometimes I think that because the path of development is normal I should try not to worry so much. But then I pick her up from nursery and especially if she hasnt slept her abilities are so far behind that I am terrified.
She is also at the point where I feel if her communication does not make a big leap soon she will be very difficult to manage. For instance shes becoming pickier with food. So if she cries and we offer her food and she rejects it, we can no longer be certain that this is because she isnt hungry. So shes been losing weight (well not gaining) because we arent giving her enough to eat because we dont realise she's hungry. I find this food thing really really hard. I feel dreadful that we have been letting her go hungry.
I am starting to think that she has a serious mental disability. I dont dare say this to anyone yet.

hazeyjane Thu 12-Apr-12 15:20:31

Is that something you have worried about from the beginning, Firsttimer, or is it more of a recent thing? It is so hard at this age to work out what could be related to speech delay, physical delay or whether it is because of a learning disability.

Sorry you are finding it so tough at the moment. I am afraid I am in such a negative mood, I probably am not the best person to talk to!

I have had friends here for the morning, they each have a 5 year old and 2 year old (making it 4 x 5/6 year olds + 3 x 2 year olds + 3 adults = chaos). seeing their 2 year olds running around, chatting and playing purposefully with toys whilst ds spent the entire time being cuddled by me, crying when i tried to put him down, not going in his highchair, scooping yoghurt out of the pot with his hands - it all just broke my heart. I started talking to them about the genetics appointment tomorrow and had to stop before I started crying. Having to think about family medical history has bought up some stuff that I have squashed down for years, and is making me an emotional wreck. Fortunately one of my friends has offered to look after the girls tomorrow, so that should make our appointment easier.

Have plonked girls in front of tv and am cuddling ds, who is asleep in my arms, surrounded by every single piece of Playmobil ever invented, it is like a tornado hit the house!

Firsttimer7259 Thu 12-Apr-12 15:37:32

Its recent in that its now she's getting older I feel we are running out of time to 'catch up'. Her lack of receptive language scares me.

Sorry about your hard afternoon. I find I can do less and less with other children right now. She's fine, I get upset. Sorry also about whatever in your family history is upsetting you. If talking about it on here would help please dont hold back.

hanbee Thu 12-Apr-12 20:18:16

So sad you guys are having a hard time and feeling so down.
Firsttimer, I've had times when I felt the same about DS1. For example I signed with him from the age of 1 and he didn't start signing back until he was 2 and a half. I was becoming seriously worried that he couldn't learn to communicate. Now at 3 and a half he has nearly 50 signs and is even learning colours. Even over the Easter holidays I've noticed progress. He is still way behind but things are so much easier now he has some communication tools. Don't give up.

Firsttimer my biggest fear for DS is that he will have a serious learning disability. I don't know why this seems like a bigger deal than physical or mobility challenges but somehow it is. I feel like he will be able to function ok in this world if he can communicate on a relatively 'normal' level. I find it hard to explain to family that I think a big reason for his delays is due to learning disability. And even harder to find any clues as to his cognitive development, I just don't know what to be looking out for.

hazey I hope your genetics appointment goes well tomorrow. We had to dredge through some upsetting history too which was hard. I don't know how your geneticist works but ours didn't want to hint at any suggestions of potential conditions to test for until she had shared his history with her entire team, photos and all. If you want to get your DS on the DDD study it's worth asking at this appointment definitely. And if you are thinking of having any more children in the future it's worth asking about that too. Let us know how it goes. xx

hanbee Fri 13-Apr-12 09:23:52

Firstimer/Mavis - do you get portage? It's been fantastic for DS1 at pushing him forward and setting short term goals that we can succeed at. Also our portage worker has charted his development so I know exactly where he is in each area of development and now I keep the chart updated with his accomplishments!! Communication is WAY WAY behind everything else but is still moving forward, signing is coming and he is making more attempts at speech sounds now but it is very slow. The Ed Psych sees him on the 24th so I guess I'll get even more info then.

Hazey, hope everything goes OK today, will be thinking of you all x

Not yet, we have our first visit from them booked for next week to assess DS. Hoping that once he's in their system, we can just transfer what we're doing to a new Portage worker in Cornwall.

The chart thing sounds brilliant. I feel like most professionals have shied away from telling me where he is with his development, which isn't helpful and just makes me fear the worst.

DS is babbling consonants, with plenty of variety of tone, but no words. He's starting to play really nicely too but I've lost all perspective on what he 'should' be doing at his age and can't really remember what DD was doing at 13 months. Not walking, that's for sure, but was crawling and (I think) had some words.

Hope your appointment is going well hazey x

hazeyjane Fri 13-Apr-12 13:57:54

Hello, genetics appointment went 'well' in that the dr seemed to think a genetic cause was likely. She is arranging for a cgh array to be done. She wants to show photos of ds to her colleagues to see if they think any other tests should be done. She said that if the cgh array doesn't lead anywhere then she will put ds forward for the ddd study. She also wants ds to have a scan of his kidneys, because of his ear pit, which van often be linked to abnormalities of the kidneys.

It is very frustrating that I was asking for this to be done a year ago, and in the meantime ds has had to have an mri, and numerous bloodtests. Ah well we are here now.

The geneticist was easy to talk to and very understanding of my complicated family, but I am very glad my dds weren't there (a friend stepped in at the last minute to look after them) as I got a bit emotional talking about it all.

We have to wait 2/3 months for the results. It's going to seem like a lifetime.

SallyBear Fri 13-Apr-12 14:38:15

Hi Hazey. I was thinking about you today. I had forgotten that you said that your DS had a preauricular pit. DD has two pits, and they are apparently also present in a lot of craniofacial conditions, so I suppose it must be classed as a genetic marker!
I hope that you don't have to wait too long for your results. We had a long wait for answers that we never did get in the end. It was inconclusive. So we've had to rely on a clinical diagnosis.

Sounds like a sensible plan hazey. 2/3 months does sound like a long time for the CGH array results though, I think ours was about 5 weeks so hopefully yours will come through quicker.

I'm glad you found your geneticist easy to talk to. It does help when you have to dredge through upsetting stuff.

misslala1987 Fri 13-Apr-12 19:14:23

hi, just read your thread. i was i the same predicament for around 6 months. i took my daughter to the docs for a refferal to a pedeatrician because she was 10 months old and couldnt sit up, she was still floppy like a 4 month old. after blood tests, genes tests, urine tests, a full body m.r.i scan, she even had her results sent off to great olmond street and abit of physio therapy. we finally got the results that she has 'delay in maturation of the brain, minor degree of plagio and less white bulk matter in her brain' the white matter means something, its important. now hers is thereits just she doesnt have as much as what would be expected in a child her age. she has an immature brain. shes 20 months old and theyre thinking right now her brain is more like a 9 month olds. and plagio is flat head syndrome, she has a minor degree. the thing is we didnt expect there to be anything different in her brain because mentally shes so on the ball, she tries to copy, shes observant and when she plays with her toys its not all 'bang this, bang that' shes quite gentle. but what weve been told is that its a part of the brain thats connected to the body which tells the body how to move is delayed. she is sitting unaided now, rolling, and shes just started kneeling in her cot and weve caught her pulling herself to stabnd a few times recently, it is a struggle for her gith now but we know shell get there. shes continuing physio therapy, she has play therapy and will be starting hydro therapy. she is being monitored by the pedeatrician ad will see him again in june. right now she has to be supervised at all times (90% by me the other 10% by daddy when hes not working) she has to be carried from a to b but thats just the way things are and were just looking forward to when shes walking and is more independant because we know that shell be more happy then and less frustrated. have hope, always go with your gut instinct as a parent if you think somethings not right or not adding up. aslong as your chils happy thats all that matters really isnt it x

Firsttimer7259 Sat 14-Apr-12 22:28:27

Hazey - good your geneticist was approachable even if the appt was tough. Sorry about the long wait - it never seems to get any easier to wait for results does it? I hope things dont take quite so long - I have had a few positive surprises with waiting times as we get further along...
Hanbee - we have portage - or the Scottish version - I find her kind of useless. I dont really get what her expertise is so she comes she plays she leaves. I dont see the point of her. (sorry she bugs me) she dis a development chart thingy but its not been updated or reviewed.
mavis - I understand you I think on the learning disability. I find this the most difficult bit - I really would like to know what is going on in her head and we have no idea. Its awful because I go between thinking somethings must mean intelligence/cognition and then thinking its all random or totally lacking. I keep seeing children pointing in prams or stuff that tells you they are thinking and learning and the longing that going through me is indescribable.
Hi Misslala - you sound like you are in a good place in relation to things just now. I hope I catch some of it!

hazeyjane Mon 16-Apr-12 12:48:45

Well, ds is finally getting his portage, after and 11 month wait! Fortunately it is with a really lovely lady who he seems to like, she is coming on Wednesday, so we shall see what happens.

SallyBear, hello! If you are still about on this thread - did your dd have a kidney scan because of her preauricular pits?

MissLala, I am glad you are in a place wher you sound so positive. I am there too sometimes, but this thread is a good place to vent on those days where it all seems a bit hopeless or overwhelming!

2 appointments this week, physio tomorrow (our first appointment since before Christmas - which is rubbish imo!) and opthamology on Fri. I'm dreading the opthamologist because it will just be me, and i know it involves eyedrops - which ds is going to hate. has anyone else seen one? I'm not sure if there is anything going on with ds's eyes, but he has very 'starey' eyes which sometimes don't seem to track things properly, one eye is quite droopy as well and he sleeps with his eyes open!

SallyBear Mon 16-Apr-12 12:55:02

Hi Hazey. No she didn't have a kidney scan, as her preauricular pits are part of Treacher Collins Syndrome, that and colobomas on the eyelids and missing eyelashes. Thankfully her eyes are fine and intact. Some kids with TCS can't close their eyes properly at all, ever! DS4's eyes don't always close properly.

SallyBear Mon 16-Apr-12 12:57:21

Oh yes, meant to say we had the refraction eyedrops. They sting, make the vision blurry and then dammit they shine a light in your eyes!! No wonder I got DS's done under a general. Not surprised you're not looking forward to that bit. sad

hazeyjane Mon 16-Apr-12 13:21:42

hmm, I'm starting to think dh might have to take more time off work...

hanbee Mon 16-Apr-12 16:56:43

Hazey - I hope you fine portage as positive as we did. Ours is about to end and DS1 will really miss our portage worker, he just loves her! Good luck with the appointment.

I have someone coming round tomorrow from Contact a Family to help me complete the DLA form. After all the things I've read in mumsnet SN boards about the DLA process I'm feeling a bit nervous about going for it but we really need the money to help with all the appointment costs and extra things DS1 needs.

SallyBear Mon 16-Apr-12 16:59:46

Hanbee. Look at the cerebra DLA guide. It was a fantastic resource, and I am sure it is what helped me get Littlebear's award increased.

hanbee Mon 16-Apr-12 20:12:12

Thanks Sally, I've downloaded the guide but keeping stopping and starting over and getting the fear I'm underselling everything. My portage worker sorted out this lady to help who's done tons of them do hopefully I get it done and sent off rather than sitting in a puke for yet another six months!