Diagnosis Question

June 1, 2006

, hi,

I am the only one in my family with CMT - was diagnosed first by

walking the halls of my orthopedist's office and later by the EMG/NCV

tests. Still, more docs tested me for everything else, MS, MD, FA,

RA, 's, and more. I also had a nerve/muscle biopsy. ALL tests

proved I didn't have any of the above. Haven't had the DNA test - but

my Adult Baseline EMG/NCV showed all " normal " (lol) readings, but

with reinnervation, suggesting Neuronal CMT - or Type 2 as we know it.

If your neurologist thinks you have CMT 1A, I wonder what 3 genes the

lab is looking for? Maybe are they looking at Type X or even HNPP?

Or maybe CMT 1B or even one of the Type 2's? I know it is hard to

wait for these results - frustrating! CMT 1A is the most common,

however. But since you mentioned the lab was looking at 3 *different*

genes, I am wondering if they are running the complete panel on your

husband's blood.

With so many of us here, we share some symptoms, but we do not all

have the *same* symptoms. That is what makes CMT so crazy - it is a

syndrome, not such a concrete disease. People in the same family, who

also therefore have the same type of CMT, experience different

symptoms!

I know how hard it is when planning for a family. In my childbearing

years I examined the CMT issue, myself and the unknown genetics ALL

the time. Because I was a CMT child, and I knew what life was like

growing up and living with CMT, I chose not to have children. But,

this is a very personal and individual choice and decision.

If you go into our Files, look under Pregnancy or Research for some

of the info on Pre-Implantation Genetic Diagnosis. This is a type of

In Vitro, where the actual CMT gene can be taken OUT in the lab, the

woman has a normal pregnancy, and a CMT-free child is born! Take a

look at The Reproductive Genetics Institute - they pretty much

you might want to contact them and have some genetic counseling to

help you with a choice that is right for you. This PGD is available

for CMT 1A, X, 1F and 1E, it may possibly now be available for more

types now (I'm a bit out of date on this issue)

I have no regrets about my decision, but like I said, it is personal

with alot to consider. Between my friends and Heidi, I have 10

children to keep up on (5 of whom have CMT).

Hope this is helpful.

~ Gretchen

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