Introduction

February 4, 2005

I'm and I live in Arlington, Virginia. I am 46 years old, married

with three children, ages 9, 12, and 15. I was just diagnosed with CMT1A and

hereditary neuropathy with pressure palsies (HNPP). I've known since I was in

my early 20's that something was not right because my hands and feet would

" go to sleep " often, especially when I did repetitive tasks or crossed my legs

for too long. The numbness got suddenly worse in 1993 when I was diagnosed

with lupus. The lupus attacks my peripheral nervous system. I fell on my

back in 2001 and was later diagnosed with fibromyalgia. In 2004 I had surgery

to remove two damaged cervical discs. Since the surgery, I have had

continuous burning pain and swelling in my legs and feet. I manage the pain

the

best I can with medications (I take over a dozen different types), but it never

fully subsides. Like many of you, I also have a tremor -- diagnosed as

essential tremor -- in my hands, head, and voice. Now I wonder if it is

somehow

related to the CMT. It has gotten worse since my neuropathy worsened. It's

so embarrassing to explain to everyone why you are shaking. I'm constantly

asked what's wrong with my voice.

I recently discovered that CMT runs on my dad's side of the family. I'm

very close to my dad. He's from a family of 11 children. He knew I was

undergoing genetic testing so I'm confused as to why he didn't tell me he had

two

sisters, a brother, and a grandfather with CMT. Perhaps he feels a sense of

guilt about it all. Since my kids have a 50 percent chance of inheriting it

from me, I've decided to have them tested. Fortunately, they're showing no

symptoms now, but I think this is something they need to know.

I am very happy with my current neurologist but don't believe he is very

knowledgeable about CMT. I'd be interested in seeing another specialist in the

Washington, D.C. area and would appreciate your recommendations. In the

meantime, I am coping fairly well with this new diagnosis and I hope I can be

of

help to others in this group.

S.

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