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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!

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