Re: Charlene to Debbie

[Guest guest]

Thanks for the information. It was very soothing to hear from your

experience. I sometimes feel like I'm loosing it - big time! We

see Dr. Daneman in March - but I'm trying not to have any

expectations where he is concerned. We'll just have to keep

plugging away at it. One of the things the genetisist told us

regarding Will and school and an IEP was that if he was learning

well to leave it alone. I couldn't impress upon her how much the

teacher's comments have affected our understanding of what

goes through at school. Any way I'm taking some of your advise -

I'll proceed privately (speech and OT and possibly psychometric

testing) so that at least and I have some peace of mind, and

maybe a plan of our own. Thanks for the support.

Charlene

>

> Hi Charlene

> I was never given an " official " diagnosis. All reports

said " suspected RSS " and Dr. Daneman basically said " well it's

nothing else, it's all ruled out, so it has to be RSS but we can't

say definitively " It wasn't until he recommended the growth hormone

and had to write a letter to my insurance that he said " he has RSS "

(well he couldn't very well say suspected) and so THAT was the

letter that I used to get the identification " physical disability "

and the IEP.

> But you do realize, at this point, you do not need a formal

diagnosis for an IEP? Well that's the way I operate. If a child has

needs that require some sort of accommodations, whether there is any

paper work or not, I will write up an IEP.

> So who will be the endo that your genetic doctor is waiting to

hear from again? Will it still be Daneman?

> OH and for the record Charlene, Adam has no asymmetry. I have one

geneticist at North York who put in one of his reports that she

found one nipple slightly (less that a millimetre) lower than the

other side. But given that no one's body is truly symmetrical, it

seems he does NOT have that trait.

> When do you see the endo again?

>

> Debby B.

> Mom doesn't know what to think!

>

>

> This week we took to the genetisist for our follow up.

She

> had her 'student' do the preliminary work up and then came in to

> visit. She checked him out - asked us questions - focussed on

what

> characteristics he has and then told us there really is not any

way

> that she could give us what we came for, which was some sort of

> written confirmation about RSS to present to his school so that

an

> IEP can be established. She said this isn't possible because

there

> really is no way she can say for sure - although she did comment

> that what has is definately genetic. She then focussed

on

> some of the characteristics (phenotypes) that he doesn't

possess.

> She was particularly focussed on the fact that he has no

apparent

> asymmetry. We are absolutely frustrated as she then told us to

wait

> and see what the endocrinologist says. We were a bit dazed,

asked

> about the previous 'differential' diagnosis and were told that

these

> are given merely as possibilities and the possibility remains

that

> he has a genetic syndrome - but what it is she doesn't know.

What

> kind of assurances have you all received as parents (outside of

> those whose children tested UPD pos)? Should we just give up and

> move on and hope for the best - he has had a brilliantly healthy

> winter (touch wood). I'm at a loss.

> Charlene Mom to , age 4

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