genetics results

[imawigglyworm]

Ok so after 4 years we finally have genetics results (from DDD study) DS has a rare unnamed mutation and is only the 3rd diagnosed case in the world.
Not really sure how I feel about the news tbh as I guess as a parent awaiting results you expect 'answers' but with only 2 cases to compare DS too its not really closed any questions as there is very limited information.
But I am grateful that we do have a sort of answer after all the tests and scans my Ds had to endure, if that makes sense

Do you know how old the other children are? Does it give you any answers? We are in a similar position .

the oldest of the two boys is 19 and neither have no major ongoing health issues due to it, but that is really about as much as we know. Oh and its low risk for further pregnancies for myself and my older DS's future babies. They are hoping that there will eventually be another 10 diagnosis' over the next few years so we could get more information over the years but there is very little information so far, I think the paper was only written dec 2012 so all very recent.
Its so hard isn't it? I was really hoping for a diagnosis but now we sort of have one its left me a little disheartened, we all just want to do the best for our DC.

How old is your ds? Is he globally delayed ? My ds is 2 and is gd. I just want to know how my future will be so to know the 19 year old has no ongoing issues is good isn't it?

I can understand that. We had an MRI for DD1 and the Consultant said he was 'confident it would be normal.' Then, when we had the follow up he said 'erm...actually...it wasn't.' However, the findings were so vague (widespread subtle cortical dysplasia) that it means nothing

We hoped the DDD would show something for DD1 as the geneticist is confident it is a genetic condition, but so far nothing

Did you have a micro array lougle?

Yes, we were one of the first 100 in our region to join the study so we got the whole shebang - the superdooper micro array plus some other stuff that only the first 100 get. All came back 'nada'

So your micro array was normal?

bishboschone Ds is 4 and has GD placed at about 1 1/2- 2yrs. Yes of course that's good news, but I just think with only 2 other children to go by then how accurate is the information? if that makes sense?
lougle keep waiting on DDD, ive heard so many people say their geneticist had said their results were negative I was beginning to loose hope, but 2 years down the line they came back to us with a result. We were one of the first 100 too so go the extra testing, but im not sure where these results showed up (in the standard or extra tests).

Yes , I know what you mean .. My son has unseen before duplications. Part of me desperately wants to what his and our future holds and the other part is too afraid to hear it. Is your dd continuing to develop ? We were told my ds develop may stop at any time although he has come on leaps and bounds the gap between him and his peers is widening daily

Sorry your ds .

Yeah he seems to be developing slowly but is still non verbal he's 4yrs old, that was one of the things that wasn't recorded so the geneticist was going to email the dr from holland to ask if either boy could talk. They have both stayed severely delayed, but with no signs of going backwards. Which is good.
I just can't help thinking with only 2 others with the dx is it really trustworthy information we've been given? But then some information is better than none I guess.

That must be hard to know but he may prove them wrong? I found my ds had quiet phases and then a little development spurt.

I had a letter from the DDD study saying that nothing had been found and they would continue to look periodically

Oh no lougle I know they review everyone at the end of the 4 year study, so maybe there is still hope ((big hugs))

So did the micro array give you a duplication or mutation on any genes for your ds ? My ds has duplications on ten genes on the X chromosome but no one knows what it means . He is delayed , has ptosis , and has a plus 4 prescription in both eyes . Also has glue ear which I understand is fairly normal for genetic conditions. So obviously these duplications ' mean ' something . It's the future I'm afraid of .

Oh and apparently dismorphic features ( flat bridge of nose , epicanthal folds , wide mouth ..

Hopefully.

DD1 has slightly low tone, epicanthic folds, flatish bridge of the nose, clinodactyly (curved fingers), slightly odd toes, widespread but subtle abnormalities of her brain structure, etc.

The geneticist is certain it's a genetic condition but they just can't find it.

How old is she lougle ? Does she walk? My ds is 2 but was with a Kaye walker , I'm determined he will walk but feel I may just be hoping a bit too much .

Yes, she does. She started walking at 23 months. Her gait is a bit strange and she's slower than her peers, falls quite a lot, but is mobile.

I know of a child who didn't walk at all until they were 5 and then suddenly walked, so don't lose hope (and I don't say that to be kind).

Thank you.. I do remain hopeful ( mostly) it's just such a long hard struggle daily.. He has all the skills to walk independently so
Fingers crossed.