Welcome Mike

[Guest guest]

Welcome Mike. Thanks so much for introducing yourself.

I was diagnosed with CMT when I was 10, in 1962. My diagnosis was

made based on the way I was walking. No tests then. But I had some

tendon surgery on both feet which has lasted very well all these

years.

When I was 14, I began to see a neurologist. It was then that I had a

muscle/nerve biopsy. At that time it required one night's hospital

stay. My biopsy came out all clear. The hospital stay freaked me out

because my roomate (also 14) had brain surgery and screamed all night.

It wasn't until year's later that I learned muscle/nerve biopsies are

a tool used to rule out many neuromuscular disorders. My neurologist

was thinking that perhaps I had Muscular Dystrophy, not CMT.

My first EMG was 15 and it was such a terrifying experience that I

screamed and begged my Mom to get me out of there. 6 months or so

later, my parents 'suggested' another one since " the doctors " needed

to know. I only agreed on the basis they find a nice caring doctor,

and they did, one in private practice, and while the experience was

still horrible, I got through it. I never knew the results. But we

all still believed I had CMT.

When I was 21 I had a lumbar puncture, which above all the tests to

date was the most excruciating procedure for me. As I understood at

that time, it was part of an entire neurological workup and that a

team of doctors at UCLA were suspecting Multiple Sclerosis. My lumbar

puncture came out all clear. No matter what, a lumbar pucture is

something I will NEVER have again! Ever! I really feel for you having

to put your daughter through this.

While the muscle/nerve biopsy was OK to deal with, the lumbar pucture

was just too barbaric. I am sure the procedure has changed, and I

hope that your daughter can have a sedative for it and that you can

also be present. If there is any way to get out of this or postpone

this, do it.

Fast forward to 1998 when my Internist suggested an adult baseline

EMG. I fought this, but bit the bullet and went through with it. I

was told I could take a mild sedative, which I did. It did not affect

the results of the test at all. The test was somewhat better - warm

blankets to cover me, the EMG doctor was the best there is and well

trained in nervous/anxious patients, and I still felt all the pain

and shocks, but the sedative helped my anxiety so I got through it.

The results were all in normal range and showed reinnervation. I also

asked for a copy of the written report from the doctor. In that

report it states that " patient clearly does not have a more common or

demylenating form of CMT, but due to reinnevation may perhaps have a

neuronal/axonal form of CMT. " Mike, that means, one of the Type 2's

of CMT.

I have not had genetic testing, nor do I have any family history of

CMT.

CMT affects us all so differently. I was much more affected with

problem symptoms when I was a teen and in my early 20's. By the time

I was 30, a doctor (who rediagnosed me with Frederick's Ataxia) told

me I would need a wheelchair full-time by age 30.

I will be 53 in two more weeks. I do not use a wheelchair, far from

it. I only require some in-shoe custom orthotics to cushion my feet,

protect them and make sure when I walk I have a proper heel-toe gait.

I bike, swim, do an aquatics circuit, walk, started learning scuba,

travel internationally, work, and enjoy a full, rich life. What do

you know? This CMT I was so worried about for so long (along with my

parents) just sort of grew up with me and, if anything, it has made

me a better person in many respects.

I have learned I MUST take good care of myself: adequate sleep (8-9

hours daily) nutrition, exercise, diet, 2 supplements, all play a

roll in maintaining my optimum health - even with CMT. I hope this

gives you a picture of me and how I manage my symptoms.

Last time I looked, I think there were 46 different CMT subtypes, and

only about 12 or so have genetic tests at present. It is also

possible that a CMT genetic test can come back with a negative

result, so a person can ask for a re-test. I hope you have an

excellent pediatric neurologist.

No one, no " experts " anywhere can predict how CMT will affect a child or adult.

The best suggestion is to stay connected to others with CMT, ask questions, and

stay informed on the latest research, which I post frequently. Knowledge about

CMT, both from a 'experiential' point of view, as well as an academic point of

view will help you learn more about CMT and hopefully dispel your fears and

worry.

Again, I welcome you to and hope you find this group to be a

very positive experience.

~ Gretchen/Founder of

[Guest guest]

Mike:

My heart goes out to you as I remember the worry and anxiety of that time period

when our son was diagnosed at 3 1/2 nearly 2 years ago (He has 1A). Like you, my

husband and I were very worried about what may lie ahead given his early onset.

We have since learned that, in the words of one neuromuscular doctor, " no general

statements {about CMT progression} can be made " .

I've heard of one instance where a boy diagnosed at 3 stayed on a

plateau into his 20's! Progression seems to be so varied, we have to take it one

day at a time. It is hard not knowing though.

One thing that we found that really helped our son when he was diagnosed was

occupational therapy. Like your daughter, Gavin was unsteady, fell alot, had a

hard time running/jumping and no knee reflexes. He did therapy weekly for 6

months, then biweekly or monthly for another year. It has helped immensely

because the therapist was able to build his physical confidence and help him

modify how he did things to be more successfull.

Without us realizing it, the instability he felt was causing him to shy away

from many activities that would make the most use of the muscles he had.

Because things were hard to do (like walking sideways, jumping etc.) he wasn't

initiating them.

Despite obvious progression (less leg muscle and the beginnings of structural

foot changes), he is now running, jumping and moving better than he ever has in

his life. Friends and family are amazed.

Tendon stretching has helped significantly also. I would strongly recommend

it.

Best of luck.

Sally

[Guest guest]

There are many people who lead active live with CMT. I do and several of my

friends do. One rides motorcycles, hunts and fishes, and is a drummer in a rock

band. He also played high school football and baseball. I do most anything I

want to also. Most people live very long lives with CMT. It is not life

threatening. I have another friend with CMT. He is very active. He too has

played sports and scuba dives. Three or his four kids have CMT and lead very

normal

lives. So you can see, your daughter's future is not so bleak just because she

has CMT.

Bob

[Guest guest]

Hi Mike,

Welcome to the group!

My son (19) was diagnosed a little over a year ago so I'm no expert but I would

like to suggest looking over the info that are in the files - TONS of info.

What I found surprising was all the different meds that are harmful to someone

with CMT.

You will find that just about anything you post about, there is always someone

who can answer it or offer advice. They will also support you through whatever

your going through.

When my son had to have surgery to correct a pes cavus foot, I honestly don't

know what I would have done without the support I received. I was very lucky to

have a member of the group who's son went through the same procedure around the

same age and she and her son both were awesome and supportive beyond words -

they also prepared us for what to expect.

Which type where you diagnosed with?

Carmella

[Guest guest]

Welcome Mike! What do you do? If you don't mind me asking.

Dawn