I GOT SOME RESULTS!! SOME GOOD SOME BAD!!

[butty]

Hi well here goes!!

We got to the appointment and discussed dylans progress.

As follows:
MRI-all clear exept underdeveloped frontal lobe.!! (good News)

Blood tests- 8 good, still waiting for 2!!

Skin Biopsy - results not back yet!!!!!

DX- not mosaicism!! Dont know?????

Further investigations - genetisist for 6 fish tests.

Talk of williams syndrome!!! What is it!!!???

Protitry gland just below normal so may need hormone treatment!!!!

Other than that i am no nearer to knowing and they have said that they may never know the cause of dylans problems!!!!!!!!!!!!

Will have to wait a further 6 months for all the genetic tests to be done and also to see their consultants who will be doing a home visit in the next 3 months!!!!!!!!!!!!!!!

Doc will ring when he gets biopsy results whether good or bad to put me out of mysery!!!!

They have now DX'd officially on paper severe GDD, Severe Hypotonia and learning disabilities.

So really the same.!!!!!!!!!!!!!!!!!

But thanks to everyone for all your support, it will probably be needed again in the months coming!!!!!!!!!!!!!

Butty.xxxx

Hi Jenk, don't read too much into the description of Williams - like I said my DS had a lot of the features too but tested negative for it. Oh yes, one of the other features is small widely spaced teeth, which my DS has, but so do lots of children. I think the heart condition as someone else said is the biggest indicator.

My DS just has GDD - no other diagnosis. I think it is very hard being without a dx. Hypotonia and hypermobility and GDD may all be symptoms of some underlying condition or they may be isolated problems that may resolve themselves but there is no real way of knowing when they are small unless of course you do get a dx. But I think every child is different and having a dx doesn't really give you a prognosis. GDD can be similar to Downs and other genetic conditions but it also has striking similarlties with CP (without spacticity) and the prognosis can vary widely with both these conditions.

I think the important thing they all have in common is that we have special and wonderful children and every little milestone achieved is a cause for celebration, when my DS achieves something new I get so high it's like I am on drugs or something. And yes there are the lows too. But what our lovely children lack in terms of ability I reckon they make up for in personality and strength of character.

Okay, philosophical moment over!

Oh, and ps - I read in a book on helping your children with SN move forward that when they achieve something new you should also treat yourself for all the hard work you put in. We had champagne when DS walked and again when he walked a bit further - I think it's important that whenever you are feeling chuffed you acknowledge exactly how hard YOU have worked in helping your little one along and treat yourself too. Sorry if that sounds obvious.

Hiya pages, how are you 2nite????

I,ve started a thread about a support group for GDD.

What do you think?????

Butty.xxx

Hi Butty

Yes, sounds great. I found there was a big lack of info on GDD when DS1 was diagnosed (if you can call it a diagnosis, because I think it is really the medics' way of saying "your child is delayed but we don't know why"). I think it would be great to make people more aware of GDD and hypotonia etc. because it seems such a prevalent disability and yet I had never heard of it until I had DS1. Really good of you to get this thing going. Not sure I could spare mcuh time to help, however, sorry to be useless but I am back to work in Jan and it all goes crazy from then on. Can I be a supporter from the sidelines?

Hi pages, thanks for your message and yes you can be a supporter from the sidelines and you can also give any ideas you have to us when you have time on here your not useless, just very busy like so many others on here.

I have decided to stop going out and drinking as much in the evening to put my time in something much greater and also, when i have some quiet time at work i will take advantage!!!!!!!!!

Butty.xxx

I've finally caught up with your thread, butty. I'm sorry you haven't been given any definite answers about Dylan.

Good luck with the new support group. xx

Chhers coppertop,

I just hope that when it is done it may give people some advise and raise more awareness about the subject and to alos let other people in the same situ know that they are not alone.

Thanks for your support.

Butty.xxx