Re: welcome Jenn/DNA CMT testing

April 25, 2007

.......have your Dr. send your blood work to either Athena Labs or Mayo

clinic and have him/her to ask that they specifically test for CMT. I wasn't

diagnosed either at first because the Dr. did not specify CMT - then my daughter

developed some symptoms and her Dr. did specify to check for CMT and they found

CMT1B which is of course hereditary (now I know what my Dad had - same symptoms

but they blamed all his problems on pernicious anemia (years ago -

I am 72 now - daughter is 50).

But since my daughter has it and her dad has no symptoms then it is inherited

from my dad, to me, to her. Mainly, ours is high arches. No reflexes in

knees, balance, weakness and a gradual inability to move flex toes. Do notice

some hand weaknes because my handwriting is not nearly as good as it was. I

suffered symptoms in childhood (ice skating was out, same with any gym class

activities on aparatus, running gait (kids would laugh to see me run).

But.........no one took it seriously. I was just considered " clumsy " .

Then when my Dad was 65 or so he developed symptons similar to what mine are

now. He was diagnosed with pernicious anemia and he could have had that, too,

but since his father and his grandfather before him ended up with walkers,

canes, etc. I believe they missed the CMT thing.

It is hereditary so it had to come thru his genes - tho my mom had polio at 18

months and had wasted muscles in her calves, wore braces till age 19 then had

surgery to stop the foot drop - so who knows, could that have been CMT also.

Will never know the answer to that question. My main symptoms at around age 65

also was stumbling and falling a lot. Now take Alpha Lipoic Acid and that has

helped. Only fall occasionally and that is when I do something stupid,like not

being very very conscious of my steps.

Anyway, hope this helps. I am due for surgery to correct a " colovesical

fistulae " next week and have to discuss with anesthologist what they will use as

not all drugs are good for this condition - make it worse. Today I am preparing

for colonoscopy so I have time to be on computer while the work on my desk at

work piles up (Oh, joy).

Anyway, good luck. And, I limp by the time I get thru a store and without a

cart I am done in. I use one of those rolling walkers with a seat where I can

rest when I get tired. Now dreading the surgery I face because of CMT and drug

reaction - hope this guy has heard of it, if not I am printing out from

computer, just in case.

Take care of yourself - and ask your Dr. to send blood work asking specifically

to check for CMT.

June from Northeastern Pennsylvania

Recommended Posts