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

[butty]

Oh also forgot to mention that the doc hasn't entirely ruled out cerebral palsy but he has to go with the neurologist for the time being!!! whatever that means!!!!!!!!!!!!!!

[baka]

craqck open a bottle butty- sounds like you could do with a drink tonight after having to digest that lot! Hope you don't have to wait too long for the biopsy.

[piffle]

oooh butty isn't it great to have some firm results though!
Well done for getting through it
Any specifis reason they err to Williams Syndrome?
We were caught up being a poss Williams as wel early one but ended up as Noonans later.
Also Butty where are you located general speak like?
Take care!!! Enjoy the night xxx

[jenk1]

glad to hear you have "some" answers butty,and at last they are taking your concerns seriousley

[starlover]

hi butty, i don't really know your situation at all... but just saw the mention of williams and thought i'd poke my nose in!
I used to work as a mothers help for a lady whose little (now big) boy has williams syndrome

he is without a doubt the lovliest child i have ever looked after! i think being over friendly is one of the traits of the syndrome. He is 15 now and getting on fantastically well.
I think I am right in saying that williams ALWAYS comes with one of 2 heart conditions.... has that already been confirmed?

anyway... hope all goes well with the rest of the results!

[bluebear]

Glad you've had some information - been thinking about you today.

Williams syndrome is tested for by FISH (it's caused by a tiny piece missing from one of the chromosome 7s) so that will be one that the geneticist organises I guess. Starlover is right in saying that a 'friendly personality' is part of the Williams traits. Do you know what the other tests are for?

[ThomCat]

Hi mate, just got in and came straight on to check how you got on.
Ummmmm, so errrrrr, I don't get it, what do you know know that you didn't know before? They seerm to still not know so much. How massively frustrating. How are you actually feeling? Are you feeling better about stuff or just the same?
Did you go out with your ma and mates and drink that champagne?

[maddiemosthorrid]

Hello butty,

I have just got in from work and wanted to see how you are.

I guess you have been able to eliminate some things.

I think MandM has a dd with Wiliams Syndome. Might be worth a search through archive.

Night, night.

[Pages]

Hi Butty, glad that all your bloods and MRI results were clear. My DS1 was tested for Williams aswell (negative) and the traits others have mentioned ie over friendliness and heart condition are standard. But they often have quite advanced speech after an initial delay. Williams children also have a certain look, which is elfin shaped face and features and flat bridge of nose, particularly pointy chin and the face is often long. Why don't you google? I can't think of any specific sites I looked at but there were loads.

Having said that, my DS fitted a lot of the criteria (but not the heart condition) and he tested negative so really it's a bit of a waiting game. I have to say I couldn't wait and went private, and got results for various tests, karyotyping, looking for micro deletions (all came back normal) within a couple of weeks. It cost about 500 - 800 quid in all but for me it was worth it. The geneticist was excellent and an expert in his field.

[jenk1]

pages i just got a shiver down my spine reading your last post.

My dd is being tested for various things and has all the features you described,dont think she has a heart condition though.
What condition does your ds have?

[butty]

Hi guys, thanks for all your messages.

I think i will be ruling out the williams syndrome as the only feature that dylan has is flat and wide bridge of nose and also bad teeth!!

In my honest opinion they havnt got a clue hence this now being the last thing they can do in regards to the genetisists.

The doctor told me yesterday that they dont know the cause of GDD and that it may be the only DX dylan ever gets and also the hypotonia as they have tested nearenough everything so the Genetisists are the last port of call and he said that only 1 3rd get a dx from this!!!

I asked how dylan would be affected in the future and he bluntly told me that dylan would need support probably all of his life

I couldnt really take it all in and i suppose in a way i am still waiting for the skin biopsy but whole heartidly i think that will probably come back all clear.

The hardest part is knowing that i may never know what has caused dylans severe GDD, but the doctor admitted that in their eyes it is like the unknown. he told me that they have been researching it for 30 years and in dylans case when it shows nothing they are bewildered although they are still researching.

Yesterday i felt numb and oblivious, today i just feel angry and want some answers as of to why my son has these problems.

Any way, sorry for going on a rant, i feel a tad head battered today.

Butty.xxx

[jenk1]

Butty, its an awful time we are having at the moment isnt it?

I have just posted another thread and feel really silly and stupid now, im sorry you are no nearer to a dx for Dylan.

Do you go on MSN cos ive just signed up on there recently is you want to talk

[butty]

Hi jenk,

How are things with you??

Hope you are feeling a little better about the hypotonia DX.

Can i say i have some good news that i want to share and give you some piece of mind:

DYLAN MANAGED 15 INDEPENDENT STEPS YESTERDAY TEATIME!!!!!!!! [SMILE] [SMILE]

I am really extactic, especially after the appointment yesterday and also so very proud of my baby boy.

I hope this gives you the inspiration to see that determination pays off and i'm sure that india has determination!!!!!!!

I dont go on MSN as to busy on here!!!!!!

Butty.xxx

[butty]

Right, i have just been on google regarding support groups for GDD and Hypotonia but there arn't any!!!!!!!!

I have a little bee buzzing in my mind to start one i know it will be hard but i think it is greatly needed as so many on here have the same problems.

What do you all think???? Am i being silly or does it sound reasonable?????

Anyone else fell the same????

Butty.xxx

[Bumblelion]

When I first got the diagnosis of my daughter having sotos syndrome, I searched all the websites I could find as all the specialists I spoke to were not knowledgeable about the condition. I received "negative" comments about how she might never lead a totally independent life, etc. Although it is too early to see if this is correct (she has only just turned 4), after joining a support group, I found out that, yes, she does have a condition but that all the chidren will the same condition have it to varying degrees. Some children with Sotos do not walk, do not talk, etc. Sasha does walk, does talk, goes to mainstream nursery (with a statement), although she is still in nappies. None of us know what the future holds for our children, but all I can do it support/love/nurture/develop Sasha as much as I can and hopefully the future will not be too bleak.

[doormat]

butty you go girl

like you I have googled till me eyes have popped out
as you know I have a ds with severe gdd
do you need a hand

[butty]

Hi Bumblelion,

I know how you feel about the negative comments although i think they have to be negative as if not they are liable for promises that will never be substansiated which could lead to problems for them.

I never say never regarding dylan as anything new that he does or achieves is such a wonderful experience and it is another step further to proving them all wrong.

I love, care, nurture, encourage dylan the same as any other mother would, but when he does new things it is totally amazing and i put that down to his determination to be independant and you can so see it in him that he does.

Butty.xxx

[butty]

Doormat,

if i can get enough people interested then i will deffo look into it regarding funding from a few charities etc...

I think it is something that needs to be done as it is becoming very apparant that there are more cases of GDD but no answers to why!!!!!!

I know it will be time consuming but i think it will be worth it.

Butty.xxx

[doormat]

butty,
you have my full support, if you ever need a hand re letter writing, begging for funding, I can ask my mum(my mum knows abit about this as she set up a charity)
I will gladly help if you want
totally agree that something needs to be done

[butty]

Cheers Doormat,

I dont know whether to start a seperate thread for anyone interested in starting this new journey to help others and also gain advise and support from each other???

I am going to look on google about funding and where to start.

And yeah, any help would be greatly appreciated as i know it wont be easy!!!!!!

Butty.xxx

[doormat]

start it butty

[butty]

Ok, i will dare i not!!!!!!!!!!!!

My first port of call is to write to Mr Blair regarding our situation!!!!!!!!!!!

You never know, the extra cash Mrs Blair is earning from him could be donated!!!!!!!

Butty.xxx

[Bumblelion]

Butty, that is it precisely. When they reach that milestone (that for another child is not a struggle) and you see the look on your child's face when they do manage it, it is unbelievable. It doesn't matter what age they reach that milestone, it is still magial nonetheless.

[doormat]

agree bumblelion milestones are more magical imo

[butty]

Right Doormat,

I have started it!!!!!!!!!!!!!!

Lets see how things go from here?????????

Butty.xxx