Re: family testing/genetics

March 13, 2002

Bonnie, Your mother and family needs to be checked so you can be sure where it

came

from and be on guard for future generations. I wish you luck with your

surgery. CMT runs in my family , I had a nerve conductivity test donr and it

came back I did not have CMT but I have carpal tunnel from doing hair for so

long. Kay

March 13, 2002

In regards to the nerve conductivity testing.....I had that painful test done

when I was 17 years old and it came back negative for CMT, I do now know that

the test was wrong and I do in fact have CMT...I have CMT1x..that means it

was passed to me by my father, we knew that it ran in the family, just not

how it was linked genetically until I had my second son and he didn't start

walking til almost 2 and was behind in so many things...we found a pediatric

neurologist who refereed us to a genetics counselor who in turn felt after

going through both my husbands and my background that our son had CMT...I

said, that is impossible, I was tested and told I didn't have it, that is why

I choose to have children without any hesitation...well, come to find out,

through having our son tested by DNA...I do have it, I just don't show the

disease, just a very slight low tone in my feet and ankles...none of the

women in our family who have it really show it, just the men who get severely

attacked by it...that was explained to me be because it is on our X

chromosome and men have one X and women have two...so our good x picks up the

slack most of the time for the bad one...the men who have it will show it

more...as for my son, it is rare to show at such a young age and no one in

our family has ever shown it at such a young age....it breaks my heart to see

him struggle every day at the age of 6 with things that I never had to, he is

almost as bad as my dad who is almost 60...I just wonder how far this disease

will take him, the doctors say he could be in a wheelchair by the time he is

10...I just wanted to let the people that think they have CMT and had a nerve

conductivity test done and were told it was negative...it could be wrong, I

don't want to shatter anyone's good news..but it can happen. Hope you all

have a wonderful day...Tana

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