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Can anyone give me some hope? - about GDD and what it may mean(32 Posts)
My daughter has a Global Developmental Delay. Shes 21 months old and maybe at the stage of a one year old -her language is probably further behind than that. She is making progress still, but we have had strange MRI and blood test results. The doctors are now checking with a series of tests whether she has a peroxisomal disorder. We are waiting for results.
In the meantime I am getting more and more convinced that this is it. It would fit with how she presents - shes late, but shows no disordered behaviour. Although she would have a mild form these disorders are fatal.
Can anyone give me hope that it could be something else? Did you have a child that had developmental delays across the board that just caught up. Please only post if its somewhere in the same ballpark as my girl. So a child who at almost 2 was very behind.
My DD has delays, but hers turned out to be caused by a chromosome microdeletion. We were always told that it was a good sign that she progressed.
However her MRI and blood were clear so i can't help too much.
We were always told she appeared to have a metabolic illness though, Dr's were pretty sure..and she doesn't!
i do also know someone who had initial positive blood tests which are now normal. So don't despair yet.
We have been waiting for genetic tests to come back on dd3 this term.
Mercifully they have come back and she does not have the condition they were looking for.
She has a slightly different profile to your dd by the sounds of things and appeared fine until about 11 months when she had many seizures and then did not progress well. It is unclear how much of this is due to the drugs she has been on, on and off for the last 3 years or whether it is more than that.
This time last year she was still in nappies, talking in very simple 2 or 3 word sentences, unable to hop or balance very well, scribble drawing at age 3, and very obviously different......a year later despite a relapse and stay in hospital she is in school, writing, potty trained, talking at least as well as her class, hops, jumps, giggles, strops.....she is very much a 4 year old.
Her consultant feels her condition is genetic but as yet we know very little....everything left to test for is awful. Realistically she is not really in the clear but I can hold her and she is home and she is happy.
I'm so sorry this is happening to you and your little girl. I hope someone comes who can help.
When DS initially regressed at 3.5 they told us he probably has a degenerate brain condition which would be fatal. He didn't, he had late onset autism. You always have to hope but it was a major major worry so I can imagine how you're feeling. Nothing anyone will say will take away the worry but just keep doing what you're doing and helping her as much as you can
I'm sorry you have to go through this
Firsttimer, as you know ds has gdd, and we are in a similar position to you with regards to searching for a diagnosis. It is so hard when they are testing for something specific, and something so devastating. When ds was being tested for sma, we googled and he seemed to tick so many of the boxes, I kind of convinced myself that that was that, and felt overwhelmed with fear - but the tests came back negative, and although we are back on the bumpy road to diagnosis, the hope is that whatever is causing ds's delays, won't be something as horrendous.
He was also tested for similar things to your dd, but the consultant thought these disorders were unlikely because children with them usually have distinctive physical characteristics. The tests did show slightly odd levels of certain enzymes, but they didn't seem too concerned.
Do you have any idea of how long you will have to wait for the results?
My DS was referred at 18 month for GDD, they initially was waiting to see if he caught up with regards the delays (he doesn't have many distinctive physical characteristics). But eventually after a clear MRI and a few tests they found he has a genetic disorder (chromosome deletion). My DS had the same delay and speech was the largest delay.
Currently his physical development has the largest delay, speech closely following and the delay is larger - but I am hopful that this will change given time and provisions.
dd2's original dx was gdd (she had been gdd from v early on, we claimed hr dla from 6 mos at the consultant's behest) she was sitting (we still used pillows for catching falls) but was not mobile, and had no language (we were told she wouldn't speak and had been just started on makaton, and that she would be aac user). she was using a standing frame. however, her eventual dx was spastic quad cp (about 2 mos later) and i think they just didn't want to tell us, as they were hoping she would catch up and it wouldn't highlight obvious questions over mat care. they were still running with 'we really don't know, she's a medical anomaly'.
anyway, she's 8 now, walks, talks, shouts, sings (badly - but some well-meaning teacher let her in the school choir -there is a limit to where dda should take you) skis, goes to ballet, brownies, tap and wants to be an author. at 4 she was re-dx athetoid cp and lost the spastic quad dx.
21 mos is still really early. if you had asked me at 21 mos whether dd2 would walk and talk, i would have said no. and so would all of her many and varied therapists. her biggest developmental strides came around 3-4. she used a walking frame throughout yr r, but has been independently mobile since. we do have a wheelchair
i do hope you get some answers. testing is good and can give you some ideas. but even tests won't tell you what your little one is going to be able to do/ be in life. i always wanted a crystal ball. keeping my fingers crossed that your worst fears aren't realised x
mm, lost half a sentence! we do have a wheelchair, but only use it on long days our or when speed is of the essence!! dd2 is different from her peers, but different can still be equal.
My daughter has GDD and is now 13. I know how hard it can be waiting for results. I found it horrific waiting for my daughter's chromosomal analysis and they didn't find anything
My daughter was delayed by about a year at 2/3 but this widened as she got older. I do think that at that age if had been able to see her as she is now I would have been very comforted. I hope you get good news.
Thank you all so so much. These responses really helped me.
We had some good news this morning - the test results are normal!!! I feel so light!
We still dont know what will happen - I guess no one does to some degree. But at least we are not losing her to this. Its nice to have some good news for once
That is fantastic news Firsttimer, I'm so glad you didn't have a longer wait, it is torture waiting for these things.
I'll see you back on the bumpy diagnosis road!
that must be a huge relief.
the waiting and wondering is the worst part - at least when/ if you know what you are dealing with, you can plan accordingly.
what were the 'strange' mri results, firsttimer? have you started an mri thread - there sre a few posters who might be able to interpret a bit for you? (i'm not one of them lol - i know what i know. ) fwiw, we had two mris done, and the second was a lot more conclusive. dd2 was so tiny when the first one was done (12 days) and they were v cagey about what the results meant. the second one and the neuro follow up were much more detailed and concise. i suspect we were being fobbed off at the earlier stage, although of course no-one will admit that. (so far at least).
Still all light around here
madwomanintheattic I didn't start an MRI thread. But briefly on the MRI: there are areas of white in the temporal and parietal lobes. Its slight and they said if they weren't looking they would not notice. They are not even sure whether this isnt just a normal variation in the brain. Apparently they dont have much data on children this age yet. I dont know about being fobbed off - I think science just isnt as cut and dried as we like to think. In our case they have said that they just dont know whats going on, they are trying to use all these tools to make a picture but their tools are limited. Anyway we are scheduled for a second MRI next summer (1 year after the first)
If I put my geek hat on for a second: the thing that bowled me over is that the neurologist explained that with some children you see a big bit of the brain missing but somehow they re-wire to compensate and the child is minimally impaired while in another children there's something small missing but the disability is profound. And they dont really understand why.
Some days I am in awe of this, its all so mysterious. Other days it drives me crazy and makes me angry as hell!
Fristtimer I've been through all this with my sons. Various MRI's, enzyme tests, chromosone tests, blood tests, muscle biopsies. I never got a diagnosis.
My boys were diagnosed with GDD at around 18 months old I think. They are going to be 7 years old soon and I don't have an explanation as to why they have GDD.
As to your question about 'catching up'. My boys have never caught up. They attend a SN school and are very happy but hard work.
I got myself all tied up about getting a diagnosis and hoping that they would eventually catch up and be 'normal'. This will never be the case and it's becoming increasingly obvious the older they get.
This may not be the case for your daughter though. I'm just speaking from experience of having boys with GDD from the age your daughter is. Each child is different. I hope she is ok. My boys are happy and lovely to be around. One is much harder work than the other and has more problems so it just goes to show how different any child with GDD can be.
Good luck and I'd be very interested in any further updates.
firsttimer, oh for sure (re the mri results and plasticity) - according to the neuro dd2 shouldn't be walking and talking becasue of the areas of damage on her mri. however, i am a little bit sceptical of how the mri was explained by the first consultant, who said something along the lines of what you were told... 'well we don't really do mris on healthy babies of this age, so it's just a soft sign, really. it might not mean anything'...
i'm just not sure how you get from 'oh it might be entirely normal' to 'i'm extremely surprised that she is so able given the areas of damage seen on the mri' by discussing it with two consultants, one who was responsible during the period the damage was caused, and one who had nothing to do with it and reviewed the mri 4 years later. oh, wait....
that's the only reason i use the term 'fobbed off'. <sigh>
at the time, i totally believed him. that said, it was even fishier that he recommended we apply for dla at 6mos (and got hr without question due to the evidence he provided - which we never saw)... and we were discharged from the hospital with a full therapy package. hindsight is a wonderful thing.
i do agree though, not knowing is the pits.
but brains are truly awesome. i think i said earlier, we saw the most development between 3-4yo. it was as though fog was lifting.
OP, there is a good book on various aspects of brain, very readable, get it from na library if you can here
Diet is crucial, eg omega oils etc, also v important is physical activity, not meaning skip and jump, but simple basic moves that improve symmetry, balance,motor skills, even an inch at the time, building blocks, any art/craft etc etc.
Young brain builds foundations from the earliest age and the science now says that you can rewire the brain and grow new neurons - and it all starts with physical activity. Dr often give you worst case scenario and little hope, don't have to believe all doom and gloom they project on you - I did that for nearly a decade, time wasted - after which I decided to do all I could to get my ds better - and he did despite really bad prognosis. Oh yes, I also spent a few years in tears
So don't spend too much time worrying, get down to doing all those little things, it's worth it!
i would agree completely with that. from the very start we exposed dd2 to absolutely every experience we could come up with, as well as the physio/ movement stuff. everything helps.
and the physio thought i was completely crackers, as i would move dd2 through every movement limb by limb, including beasting her up the stairs on her hands and knees several times a day when she couldn't yet weight bear.
it does explain why i am so knackered now lol, but dd2 is thriving.
mad, quite agree
and I don't mean going to every paid activity going, it's all home stuff
Thanks for this nightcat and madwoman. I will get the book I think. I crave reading material around what is happening. It sounds a bit like the 'functional learning' we have been doing with DD based on a book by Katrin Stroh. Lots of guiding through repeated movements. We hvae lapsed a bit as are totally knackered but will start again after christmas.
I think I find it very difficult to understand what I should and should not be concerned about. Drs inform you about all sorts of things and then I dont know whether they mean its really likely or its a possibility. So lots of tears. I getting better at maintaining some kind of equilibrium as time goes on but ....still a long long way to go.
,at two i wa still randomly bursting into tears. at 5 it would catch up with periodically. it is hard, and you need to be kind to yourself as well.
taking breaks is a really good idea - it's impossible to sustain the level of physical and mental effort required full time, and christmas is a great time to do that. dd needs to be treated like a regular kid in a regular family, too. a lot of families get to the point that they schedule 'off' time from appointments etc - just pick a week and refuse anyone that wants a piece of you during that time.
and there's always january.
Repeated movements sounds on the right track, would suggest colours, textures, shapes, nothing too fancy, my ds (now a teen) has been recently doing string finger stuff to improve his grip.
The book I mentioned is not so much about specific exercises but cases how improvement was achieved, all different, about possibilities and potential. I would say, don't get too bogged down with brain structure, work towards improving fuctionality. We never had a stair gate, as I didn't want to restrict my ds movements, in fact I was (then) worried that he might not get a chance to walk beyond crawling, thankfully he did.
Drs have been surprised at improvements, but still expect him to get worse at each visit, we will never be out of the woods totally, but I don't give up easily.
My dd4 has a multi diagnosis ...gdd and asd with hyper mobility , and growth disorder.
The gdd is ithe one I was most worried about ...the paedi told us she will never catch up with her peers (or twin brother) .She was late to hit every milestone and didn't attempt to walk until she was 2 ...She behaves like a much younger child . ..just potty trained a few months ago (she is 6) .
She has had genetic tests done and they all came back clear. Which is a puzzle as the geneticist was convinced there is something they would find.
She had bone scan and even her bones are delayed ...they look like a younger child's bones. Even during the pg , dd didn't have a normal growth pattern, she was smaller , less developed than her twin.
The autism is a separate issue , but we don't really know where one condition ends and another begins. Should get reassessed next year and have a better idea then.
However , she is at mainstream school with 1:1 ,and is doing well. She can't write with a pencil for long but does her work on computer or her iPad. Teacher have been shocked that she can do simple maths and is beginning to spell small words ( cat , mum, dog ) . She can write her own name .
Not bad for a child who we were told was doubtful if she'd ever talk
What we did was bombard dd with visual images all the time , flashcards , pecs , signaling ect . Anything she showed the slightest intrest in we used to get her attention with . Music , was a big thing for her.
Also gave her high calorie ,nutrient rich foods as much as possible , and additional vitamins and omega oil. ( eye-q one) . Is it just a coincidence she started talking after she been taking it for a couple of weeks ?
Sand pit , and play dough and water were also played with ... Often we had to show her how to play with the toys , hand over hand mostly to begin with , then she sort of found her own way around them. Now she plays with dolls houses and baby dolls and does role-play ... (she still prefers noisy and messy toys)
Think the key is to give your child lots of positive attention .
Also make sure you get time away to recharge your batteries too , if your exhausted things will seem worse than they really are .
Lastly whatever you do ...do not google . Goggling disorder / conditions only brings up the severe cases , it will have you worried sick unnessessarily .
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