A more detailed introduction

August 9, 2007

Hi All,

My name is Gigi. I sent off a quick intro when I first joined last

month. I did not feel much like typing, as I was recovering from

surgery. Big surgery! 6 procedures on my poor foot and ankle.

Previous to March of this year, I had never heard of CMT.

I had sprained my left ankle repeatedly, during my life and was told in 1997, it

would need repair someday. Upon looking at my med records from childhood the

first sprain was at 9 years old. I am now 48.

Well, late last year I started limping, and my foot started to look

different, my arch was higher and my big toe kept tripping me up. So I thought

it was time to get my ankle fixed. The Ortho Doctor took one look at my poor

deformed foot and sent me to a neurologist. She did nerve conduction tests and

a ton of labs etc. Then she wanted me to get genetic testing through Athena.

That's when I first heard of Charcot-Marie-Tooth disease.

She recently sent me the Athena report. Guess what, something shows

up, it states, " PRX sequence alteration, with amino acid change "

and " absense of published studies on this variant. " My doc says its a

positive and she will be discussing the results more with me on Aug.

15th.

I still feel bewildered. Everything I read about the PRX gene sounds

like a severe form. But my symptoms don't match that. I have 4

siblings, both parents are deceased, no CMT symptoms. One older

sister says her toes curl, one younger sister spained both ankles a

lot as a child and my brother has carpel tunnel syndrome. I worry

about my son, since I still feel in the dark about it all. I have

traveled far in 4 plus months, as I sit here with my " boot cast "

waiting to start physical therapy soon, so I can learn to use my left

leg/foot all over again.

Thanks for letting me vent,

gigi

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