Welcome Deborah

[Guest guest]

Welcome Deborah and thanks for posting your introduction. Oh, my

heart aches for you and your son. Only because this sounds like my

Mom and I when I was 16.

I am pleased you joined and want you to know there are other

mothers with sons his age in our group. My good friends and

Heidi both have sons with CMT 1A and I know they will post to you

soon.

I was diagnosed when I was 10. At that time there were no genetic

tests. No one in my family to this day is showing CMT or anything

similiar.

Tell your son there has been much research done for treatments and therapies for

CMT 1A. The first human trials of NT-3 were successful, then some mouse research

on Ascorbic Acid (Vitamin C) showed that CMT can be stopped. Human trials in the

USA are pending on this, waiting

funding. Then, there has also been good news about Onapristone for

CMT 1A. The Germans are working hard on this to find a synthetic type

without side effects. Just last week we had some news on a new gene

therapy that has the potential to treat all genetic diseases.

In addition, there is something called Pre-Implantation Genetic

Diagnosis for CMT 1A - It is a type of in vitro fertilization for

persons who have CMT 1A but do not want to pass it on to their

children. This is also successful. There is also pre-natal screening

for CMT 1A. And we continue to get more and more news.

As a 16 year old teen, I struggled to appear " normal " and fit in with

my friends. I did OK until immense fatigue hit me at 2 pm - right in

the middle of algebra. At that time my doctor gave me Ritalin and

also Potassium supplements. I was on both for the next 3 or 4 years

and I kept hiding CMT and just tried to do the best I could. I went

to all the dances and parties at school (yes, quite fatiguing, but

danced anyway).

Also had a part-time job in retail, most of which required me to be on me feet.

I loved that job. My feet hurt (burned alot) but I

figured if no one saw anything like blood I was OK and I soldered

onwards. Little did I know how this would help develop my character and inner

strength.

I did require lots of sleep for resting my muscles, and I still need

about 9 hours at night. While my teen years were tough, once I got to college,

my life seemed to get better. I worried about " the progression " of CMT all the

time, though.

Long story short, I am now 52. That awful progression of CMT that I expected,

never happened. I have a very full life and am very active with work, hobbies,

home life and really into my exercise program at the gym. I take one small dose

of medication that helps manage the burning feet, that is all. I use custom made

orthotic inserts in my shoes (no one can see these). They give support and

cushioning to my feet and work very well for me.

Again, welcome, and please let us know if we can help in anyway.

You're not alone, neither is your son. He is most welcome here too

~ Gretchen