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Re: my mda app

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In a message dated 7/8/2003 9:48:36 PM Central Daylight Time,

unkerdunker@... writes:

> When I ask which type I had he

> looked in my chart and then said he did not know. When I ask about

> the DNA tests that I had taken awhile back he said that he does know

> that I don't have any that can be detected with the DNA test.

I wasn't aware of any cmt subtypes that cannot be detected with a DNA test.

Sounds like you could use a new doctor...........this guy seems not to be very

helpful.

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ka,

I am so sorry MDA didn't come through for you. If there are over 50

'subtypes' of CMT, then there are alot of 'types' that have no test.

However, CMT1A accounts for about 70% of CMT, with Type 2 (and variants)

at 15% and Type X at %15 percent. I don't think there is a DNA test for

1C, 2A, 2B and 2C, but I am aware of some researchers working on

developing tests for the Type 2's.

Your EMG results should indicate to the doctor either Type 1 or Type 2.

Seems like this doc is not aware of CMT at all. You had those tests. You

need the results. Seems like this doc was just putting you off. And to

subject your children to the EMG at this point strikes me as odd. So

this doc says you have CMT, won't tell you what type, won't tell you

results of blood work and yet he expects you to have your kids tested?

Can you call up and get copies of EVERYTHING in your file. Give them a

week, set a certain day and go get YOUR medical records. If anyone asks

WHY, say you are unsatisfied and you are seeking a 2nd opinion; then

find another doctor. I seem to recall you are in Illinois. Don't know

where, but there must be neurologists in private practice there. (which

is why you need your medical file - if MDA says they'll send it, say NO,

you need to hand-carry your file)

Other thoughts are possibly seeking out the expertise of Shy at

Wayne State and Dyck at Mayo Clinic in Rochester. Definitely I

would seek out another doctor.

Your MDA experience mimics one I had years ago and I was so alarmed by

MDA's " plan " for me, and not getting what I wanted, I left at the lunch

break (after waiting 3 hours since my 9 am appointment) and never went

back. Got my medical records and found a neurologist in private practice

who cared enough to spend time with me and for a long time after.

~ Gretchen

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