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2 YO with functionally severe GDD... anyone is/was in the same boat?

(19 Posts)
upsydaisy2007 Mon 03-Feb-14 19:59:03

My DS has just turned two and over the last year has seen a lot of different doctors. He has a few minor health problems such as astigmatism, narrow windpipe, underdeveloped hip, and is quite small for his age (height below 9th centile, weight on 25th), but mainly it's that he has been given a label of global developmental delay functionally severe. It sounds pretty gloomy, but no other dx has been attempted so far. He went through the most detailed genetic test available and all came back clear (although doctors seem to think it is indeed something genetic). He also had a brain MRI done with some non-secific findings such as mildly reduced white matter bulk. Basically he is at a level of about 1 year old ATM, cruises but cannot stand alone, bangs and looks at toys but doesnt play purposefully/have imaginative play, really difficult to get him to copy actions, has started babbling saying things like "dada" at about 21 months but now that has gone away and we only have aah and eeh sounds again. He is really lovely and affectionate with the family and siblings, loves meeting new people, responds to his name, is nearly always in a good mood and smiling. We love him to bits but of course getting quite worried about his future and what lies ahead for him and the rest of the family. Will he ever be able to walk and talk, being where he is now. As there is no diagnosis doctors only can offer a wait and see approach. He was assessed at 6-7 month level abilities when he was 11 MO, then at 10-11 months when he was 18 MO. So quite a slow progress so far. Have another assessment coming up and feeling a bit wobbly sad I wonder if anyone reading is or was in a similar situation. How are your LOs progressing? Any hopes for someone like my DS to make some meaningful progress going forward? I am just worried he will stay at 1 YO level forever, only growing bigger. Sorry for the ranting but I even feel a bit better now. Thanks for reading, hope to hear from someone! x

babiki Mon 03-Feb-14 20:23:39

Hi and welcome. Do you know about Swan UK? It is group ( on FB as well) for parents of children with undiagnosed genetic conditions, look them up. You can ask your geneticist to put you in Deciphering Developmental Disorders study (DDD) it's cutting edge genetics and discovering new stuff all the time.

With regards to future; nobody knows sad and it's shit. There are children who progress well, there are children who progress more slowly and have learning disability.

My ds ( also GDD) at 2 years: didn't walk ( only crawl), didn't speak ( babbled on and off), didn't wave, point. I think he was 'classed' as severe.

He started walking at 2 and a half.

Now, he is 4: he can run, still crawls stairs, but talks in sentences, can count to 50, can sing beautifully and knows alphabet. If you told me this 2 years ago I would laugh.

Yes, he can't (won't) feed himself, dress himself, is in nappies, but overall he has made amazing progress. And is now in 'moderate' category.

So hang on there, I know it's tough, but things do get better.

MooMummyMoo Mon 03-Feb-14 20:24:19

Hi upsydaisy, similar situation to you in terms of GDD although we do have a diagnosis - ours is a genetic/chromosome disorder. In terms of the GDD my DD has just turned 4. She didn't sit up unaided until 2, but at 3.5 was using a walking frame only with assistance to steer. So yes there is progress, good progress, but yes it is slow and I do feel your pain, some days I really feel like things will never improve but there is progress, there really is. For me I think as soon as she does something I mentally tick the box and start focusing on the next thing and almost forget how far we have come. Communication wise my DD is still not making da ba sort of noises, really only aaa noises and no other vowels even yet, BUT she is starting to sign - not consistently but she can do it and it will come. Whether the speech will, I don't know, maybe not, but we'll see. Never say never.

I do really have days when I feel like we are getting nowhere but I try to look at the overall picture and I know that there is progress. And it's good progress, for her. It's hard but try not to compare to NT kids or to worry about the what ifs of the future, it'll just send you crazy.

Sending you lots of honks x

hazeyjane Mon 03-Feb-14 20:53:37

Hello UpsyDaisy, I have a ds who is 3.7, who also has GDD and complex health issues.It is believed he has a genetic condition (we are also on SWAN UK and in the DDD study), and he has been given a 'possible diagnosis' of a condition called Kleefstra Syndrome, for which he is in another study.

At 8 months he was at the level of a 1 month old, he sat at around 12-14 months, walked at 2.3 years (is still pretty wobbly now though), he has recently been assessed as functioning at around 16-22 months, but expressive speech is functioning at 0-5 months (no words, no babbling).

But he has made huge progress, slow and taking a lot of work, but every tiny step is massive. He is a funny boy who adores his big sisters, and the adults that care for him (he is at preschool with a 1-1), he signs (we started at 10 months and he signed for the first time at around 2.6), he has a big sense of humour, mostly about people falling over or farting (not that I do either,obviously!)

There are ups and downs, and it isn't easy, but there are lots of people to hold your hand here during the worrying bits, or for advice when you don't know what the next best step is. I would have been lost without this place.

One of the things that has been really helpful for ds has been Portage, I don't know if you get it, but if you don't then google your local portage service and self refer, because it is great.

upsydaisy2007 Mon 03-Feb-14 21:17:30

Thank you so much for the responses, it is very reassuring to find someone is experiencing the same, and be able to chat about it! Yes we do get portage for about a month now, it's still early but very nice, he loves it

upsydaisy2007 Tue 04-Feb-14 08:03:32

Oops continuing now - just as I typed the above last night, my eldest son came in complaining about tummy ache, spend next two hours trying to comfort him, then took him to an out of hours GP at midnight, on the way he puked all around the car and started feeling better after that. So a possible tummy bug for the rest of the family pending! sad
I looked up the swan and it sounds like my ds2 belongs there. Will be joining them. We did give samples for the DDd study but its too early to hear back. Overall as you all said he is making progress and now does things we were only hoping for, but there are these moments I just can't handle on my own...

hazeyjane Tue 04-Feb-14 08:16:27

It is hard, but you are not on your own.

brew and cake and wine oh and honks ( explanation here.

upsydaisy2007 Tue 04-Feb-14 13:00:50

Ha ha I am so obvious as a MN novice smile thank you for explanation, I was wondering - and for honks! On the way to hospital and trying to stay positive confused

rachmini Tue 04-Feb-14 15:17:40

My Ds has GDD he is 2.8, he has had numerous tests done including a MRI,a lumber puncture and Genetics. Everything has come back as normal! We are also part of the DDD study so are waiting for a reply off them (possibly the summer I have been told) He cannot walk yet, but has recently started 'bum shuffling' and can now sit up from lying down, he has come such a long way - he just does things in his own time! Communication is getting slightly better - he loves calling Peppa pig!! He has recently started nursery with a 1:1 for 3 mornings a week - he hasn't cried the last couple of times, so that is a bonus! I can see the progress since he started nursery - I think he is trying to copy the other children.
My Ds also has Hircshprungs Disease - which is a bowel problem - this adds to his issues but he continues to progress and is a happy little boy.

vjg13 Tue 04-Feb-14 15:36:46

My daughter has GDD and is 15.

She walked at just over 2 and would have been described at about a year delayed at that stage. She had a MRI scan, genetic studies and metabolic testing which did not identify a particular disorder. She has made progress in all areas but at very much her own pace.

bluebirdonmyshoulder Tue 04-Feb-14 17:09:46

Hello upsydaisy and welcome to the SN boards.

I have a gorgeous DD (20 months) who has a diagnosed chromosome abnormality and GDD. She cannot sit yet but babbles and loves her toys and is making slow progress.

We're actually in hospital at the moment with something 'normal' so I don't have time to write much but will return to this thread.

It is massively worrying and shit and I have no advice. But you're not alone here, we all understand and as far as your lovely boy is concerned, being loved and being happy is never ever a negative state of affairs.

upsydaisy2007 Wed 05-Feb-14 12:08:09

Yes I know, we should be grateful for what we have and things may be/become worse. Sometimes I think that our children may be actually quite happy, happier than others at their age, and it's a huge plus and we too should be glad for them.
Bluebird I hope your DD gets better very soon and you can go home. For me being in hospital is depressing, literally. Every time I (usually with DS2) get admitted even overnight I become low and tearful... after my DD's jaundice made us stay in the hospital for 10 days following her birth, I became very depressed and needed treatment. But of course they stay there because they need help and we have to get on with that.
Lovely to hear that your LOs are getting good support at nursery/preschool. I was thinking of putting him in a nursery for a few hours so that he can see more of the kids his age around, but haven't yet arranged to get him additional support (that he surely needs). Do you need a statement in place before you start, for the nursery to provide that? Or pay extra?

upsydaisy2007 Wed 05-Feb-14 12:09:50

I read all the guidance on MN about statements and spoke to the Parent partnership, but the only thing that is clear is that system is changing so nobody knows!

rachmini Wed 05-Feb-14 13:48:07

do you have a specialist health visitor? ours arranged for a 1:1 for 10 hours per week, we can c an improvement since he has been there! I think he enjoys being with the 'babas' as he says! x

upsydaisy2007 Wed 05-Feb-14 14:33:56

We only have a community paediatrician who is following up his development... I have never heard of a specialist hv in our area (we are in London ) . Maybe the paed will be able to help?

rachmini Wed 05-Feb-14 15:50:05

I think it was our community paed who referred us to a child disability team and that is where our specialist hv works. we have had wonderful support since we found out about my ds' s delay, we receive physio, speeh and language, ot and have 6 monthly meetings to discuss his progress! I believe they will start doing a statement for school soon as I'm told they can take a long time to compile. we r in Wales, check with your paed ir local council and maybe they can tell you more! I never thought I'd meet soo many health professionals! x

upsydaisy2007 Wed 05-Feb-14 21:40:12

I will be seeing the paed in a couple of weeks time and will ask if they can help. I just don't know where to start as no nursery in the vicinity caters for disabled kids, as far as I have seen when I went to visit for my ds1 place...

rachmini Wed 05-Feb-14 22:59:09

my ds attends a group that is a feeder for the school that he'll hopefully go to; so it's not a nursery as such. he goes mon, tues and weds from 9 til 12. this suits us as he has hydrotherapy on a friday and normally some other appointment on a Thursday, so it's a busy week!! hope the consultant will be able to offer some advice for you! x

upsydaisy2007 Mon 03-Mar-14 15:20:19

Hello all! A little update from us smile we saw a consultant who placed him on about 11-15 months developmental level, except for speech and language which was 8 months... A bit disheartening but he did make some progress from last years appointment. They said he will be referred to education department and he will be able to have 15 hours free education a week, but we need to find a nursery place for him ourselves. So now looking round local nurseries but still really not sure how he will be feeling there bong so far behind. The paed also said they may want to assess him for autism as he has some repetitive behaviours like looking at lights, flapping hands, mouthing everything and teeth grinding (comes and goes). It was quite unexpected as everyone to date has told us he is so social and friendly, he cannot be autistic! Really puzzled as to how to take this. Of course we will go to the assessment but it is against all that I've heard so far...

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