Re: Introduction thanks

[Guest guest]

Hi Gretchen,

Thank you so much for your reply. I really appreciate hearing from someone who

has had CMT long term, but where symptoms have remained mild. I was also

unaware of the skin biopsy, but as you said it probably will not be needed. I

am also thinking that genetic testing would not really be necessary in my case.

But I would like to see a doctor when I am in the States, so thanks for sending

me some recommendations.

I think the reason I was unable to open the files yesterday is that my computer

at home has been acting up lately (I am planning on buying a new one at the end

of the year, so hope it will hold out until then). Anyway, I was able to open

the files on my office computer this morning, so I think the problem is on my

end.

I noticed the Botox files yesterday, but was unable to access them. This is a

tough one for me. I have tried twice to surgically correct my hemifacial spasm

(brain surgery), but both surgeries were unsuccessful. Botox is my only option

to control the facial spasms. Without it, I cannot read easily or drive safely

because my eyes close and open constantly. So although I would like to go off

of Botox because of the possibility of it negatively affecting my CMT, I think

my quality of life would dramatically be affected because of the facial spasms.

Like my neurologist said- " How did you end up getting two strange neurological

disorders? " BTW, I was on Botox for 10 years, off of it for about 4 years while

pursuing surgical options, and have been back on Botox for the past 3 years.

Thanks for sharing, and I can see I will be plenty busy in the weeks to come

reading everything I can on this website and others. Again, I am so thankful

for an email forum where I can ask questions.

Blessings,

Barb Bartz

South Africa

>

> Welcome Barb,

>

> Thanks so much for introducing yourself.I too have no pain - except

occassional 'burning' in my feet. I too have had the lumbar puncture, after a

" normal " EMG reading. Back then that was standard here in L.A. And that was

clear. As for the nerve biospy, I had that, 2 different places on one leg. But

now there is a much less invasive skin biopsy,, so ask your Dr. about that, but

since you already had an EMG, it's really not needed.

>

> My parents did not have CMT either. Yes and my original diagnosing Dr. was an

orthopedist who, after watching me walk (I was a kid) said I have CMT. He said

it may be mildly progressive or not at all. 48 years later, I still have it mild

with no real progression. As for the genetics of it all, in my case, my

neurologist now concludes it may be a type of CMT 2 recessive (hard to trace

since the family is deceased) or a new mutation.

>

> Sometimes symptoms of CMT get more progressive overtime, but do not go away

completely, unless they can be suppressed with medication - like tremors can be.

Then there is always surgical correction of feet and hands, but with all, you

still have CMT.

>

> As for Minnesota, I recommend Dr. Dyck, Klein and staff at Mayo or also

Dr. Gareth Parry at Univ. of Minnesota. It is important that you read everything

you can about CMT and ask alot of questions so you can learn to manage well. It

is not necessary to know which type you have, unless you plan on participating

in a research project of some kind. I enrolled in a Type 2 research project at U

of Miami two years ago.

>

> Athena Diagnostics in Boston is doing most of the genetic testing - for all

the 'known' types of CMT. But geneticists are finding more and more new

'mutations/types " all the time.

>

> In order to access the information here in the Files, you need to be

signed in to with your ID and password. If you still have problems

let me know.

>

> Yes, there is no treatment or arrestment of CMT, yet. You might wish to join

the CMTA also http://www.cmtausa.org They have a newsletter with good

information in both electronic and paper format.

>

> CMT has not 'altered' my future. Sure, as a young kid and young adult I

thought it would, but nothing stops me from doing what I want or going where I

want. II have exceeded my own expectations. I have changed my diet and

nutritional needs quite a bit and also am in the pool 3-4 days a week, plus some

biking and now quite a bit of garden work. I maintain a low body weight, have no

high blood pressure or cholesterol problems. In other words, I am 'healthy', I

just have CMT!

>

> It is very important to learn to pace yourself - so muscles do not get

overworked. Also, be careful about the Botox. I realize it is for your face, but

it can still be circulated in your body, and this is not something good for CMT

muscles and nerves. When you get to our Files, look at the articles in the Botox

File.

>

> Gretchen

> Santa Barbara, CA

>