Re: diagnostic criteria

[Guest guest]

Hey Deb...

We learned about RSS thru 's ped. He mentioned it in passing... He

said he had seen another RSS case.. but it was 30 years ago and that it

was very rare. But the more he looked at .. they more he considered

it. A few months later we saw a geneticist and he agreed with my doc.

They finally were able to draw blood yesterday.. and run some tests. But

from what I understand.. there isn't a sure test for RSS. I hope you are

able to find a doc that is willing to listne to you. Why didn't your doc

seem to think your little one has it? Hang in there!

.. mom to 5 y/o (non RSS), and 7 months old RSS.

VisibleWorship@... wrote:

>Hi there

>

>still trying to learn about this...but I wondered what exactly is the

>diagnostic criteria? I printed the pages of the description on the Magic

website

>but with a syndrome, I know there can be a great variation and I wonder how

>many things he had to have and if there were specific ones that everyone has?

>

>He has 8 things in their first list and four in the second...thats the

>things I KNOW he has and the things he is old enough to have.

>

>I have a pretty good relationship with our kid's geneticst and wrote her

>last night about it. She hasn't seen him in her clinic since he was 3-4 mos

>old. She said she didn't think he has it.

>

>Whether he has this or some other endocrine disease, you guys seem to know

>more about the hypoglycemia (the most pressing issue) than the GH group does,

>so I might stick around until we know something for sure.

>

>Can anyone give me better diagnostic guidelines? Did anyone find this

>syndrome themselves and then mention it to doctors or were you all dxed before

you

>heard about it?

>

>thanks a bunch

>

>deb...mom to four fab adopted kiddos... (07.04.96-05.26.03) with

>Mitochondrial Myopathy...G, 6, with High Functioning Autism, Hypoglycemia and

>Precocious Puberty...B, 4, with VERY mild Cerebral Palsy...and True 1yo, with

>Neuromotor Disorder, Hypoglycemia, Myoclonus, ulcers, undiagnosed GI problems

>plus severe food allergies (Eggs, Peanut, Milk, Soy, Corn, Rice, Oats and

>Crab/Neocate-only), Plagiocephaly and Dysphagia....Married for 12 years to

F--one

>swell guy!_ www.caringbridge.org/tn/wells/_

>(http://www.caringbridge.org/tn/wells/) (http://www.lifeofloveproject.org/)

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