CMTUS: Introduction

[Guest guest]

Hello All,

My name is Jeannine and I live in Kingston, New York. Thank you ,

for recently inviting me to join the list. I used to chat on another CMT list

but I stopped using it and found myself so needing to chat w/other CMT

sufferers as my symptoms appear to be getting worse. I am 42 yrs old and was

diagnosed w/CMT about a year ago. I live in a small city in New York where

the Drs. are not very familiar w/CMT;so needless to say I have had my share

of various diagnoses until a DR in Albany, NY did a blood test of my DNA

which revealed the CMT. Recently my Mom and sister have both been tested

positive for CMT. Its a relief to finally have a name for what has been

troubling me all my life.

My neurologist in Albany who is supposed to be a CMT expert says I have a

mild case. However in the past year; I have lost the muscle strength in my

thumbs and left big toe which make putting on shoes or zipping and tying

things a chore. I constantly trip over my toes, my knees are always giving

out on me and now my throat muscles are affected. I had a video esophalogram

which revealed the muscles in my throat are getting weaker causing any food

or fluids I put into my mouth to go down my throat before I swallow which

causes me to choke. I even occass. have times where I am unable to swallow

the saliva in my mouth which makes me feel like I am about to choke. That is

a scary one esp. when it happens while driving. So I carry water w/me most of

the time. The rapidly progressing weakness, severe fatigue and constant pain

in all 4 extremities have made me a prisoner in my own home. Yet my DR says

this is a mild case. Wow, would I hate to have CMT that isn't so mild if this

is what mild is like. I cry and I laugh a lot. I try to find humor in this

when I can. It is so lonely when one is barely able to walk.

Does anyone know of any hospitals or clinics in New York which specialize

in CMT? My Dr.'s seem to feel that all of the problems that I listed above

are not connected to CMT they say I probably have something else going on yet

all other tests are negative. The Dr who diagnosed the CMT says the CMT

should not cause me pain and IF I really am in pain it must be from something

else. LOL.........So he prescribed Dilantin which I did not take as I heard

it is a drug we should avoid. So when I go to a Dr. to notify him of a new

complication which I know is caused by the CMT he says the same thing with no

sympathy whatsoever, " Well you know there is no cure for CMT and I have

patients who lead active productive lives and are working and involved in

sports; I don't know why you are having such a hard time, you need to

exercise more. " These comments and comments from my church saying I must have

caused the illness or its serving me a useful purpose as they laid hands on

me and I should be healed; has sunken me into a state of depression; where I

cut myself off entirely from the world. Any suggestions or names of Cmt

hospitals would be greatly appreciated.

Jeannine