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

[hazeyjane]

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?

[EllenJaneisnotmyname]

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]

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]

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!

[Hayley16]

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 :( the doctor told me to leave the room when DS had his done as he said it wudnt be nice to watch :( Are these blood tests for the genetic testing?

[hazeyjane]

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]

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]

hazeyjane
Hope your wait isnt too long :( 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]

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]

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]

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 :)
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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

Hi Everyone
Thanks for your kind support :) 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 :( 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]

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 smile


Hope everybody and their lo's are ok.

[kellbell82]

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]

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?