Welcome Peggy

[Guest guest]

In a message dated 6/24/2001 5:42:07 PM EST, jmedlen@... writes:

<< Who have you gone to for this dx? It is important to me that

a consistent message is being sent to physicians and families regarding the

dual diagnosis. I will meet with th4e DSMIg (Down syndrome medical interest

group) in a couple of weeks (since I " m a dietitian with the group). I'm

thinking maybe there4 needs to be a discussion of how to make certain it's

not seen as jmore common that it really is. 5-7% just isn't that many kids.

>>

Joan:

Thanks for the welcome. Our long time (14 months we adopted him to present

when she is retiring - 18-1/2 years old) pediatrician is a specialist in

Developmental Disabilities. She is co-head of Kaiser Permanente's DD clinic

in our area. She's fairly well recognized state wide as an expert. When

we were trying to adopt a Down's child we were told how lucky we are to have

Kaiser because of her.

Ray had a thorough work up at 2-1/2 and no Autistic symptoms showed up.

I think is possible that they were there but I didn't recognize them to

report them. For example, my deceased husband used to joke about how he

lined up his toys like a carpenter or surgeon arranges theirs.

The diagnosis really came through the school district and was confirmed by

the pediatrician. The pyschiatrist we had at the time Ray experienced

the seizures refused to label him Autistic unless it would somehow benefit

him to have the label. The pediatrician went along with him.

The most credible explanation I've heard was from the school district's

Autism Specialist, also the mother of two Autistic children. She said that

she does see late onset Autism. She said there are many theories but the

one that she thinks more reasonable is the predisposition to Autism is

genetic but it may be so mild as to not be obvious until some trauma or

environmental issue triggers it. For Ray, he lost his adoptive father

at 11-1/2 and then had the major seizures we thought were from impramine at

14-1/2. I had decided that was the more credible until the pediatrician

told me that she has other Down's patients who now have the Autism and even

schizophrenia or bipolar diagnosis.

I also read Dr. Egelson's article on seizures at puberty on Autism but it had

nothing to do with the combo diagnosis. That url is www.autism.org. The

article on seizures is in the table of contents.

In terms of percentage being low for the combination I can't speak to that

except that the doctor sees hundreds of Down's kids in the DD clinic and her

practice and she mentioned only 5 with the combination including Ray.

That would seem to be a pretty small percentage of her Down's patients.

However, I don't know that I would see 5-7% as uncommon. Maybe I heard her

wrong or misquoted her.

Peggy

[Guest guest]

A warm welcome to you, Peggy. I also have Type 2. But have not had

genetic testing. I was diagnosed as a child with just " CMT " - this was

about 1962 and no one ever mentioned " types " then. I've had 3 EMG/NCVs -

the most recent one and the only one as an adult showed all normal

nerve firings, and that I have some reinnervation going on (nerves re-

wiring themselves) which I learned was indicative of Type 2.

Being on your feet all day is really difficult. I hope you've got some

good shoes, like New Balance perhaps, and maybe in-shoe orthotics for

foot/arch/toe support. I've been wearing New Balance shoes for years

since my orthotist recommended them. I also have in-shoe orthotics

under my feet for support.

Again, welcome, and thanks so much for introducing yourself. I hope you

enjoy our commmuity.

Gretchen in sunny So. California