CMT testing at the begining

[Guest guest]

Hello, my name is Peggy. I 'am 50 years old and had problems with my

legs sense the age of 16. To make a long story short, neuropathy seem

to run in my mom's family. I have gone through three Doc. in less than

a year, they all tell me they will figure this out with my legs but

they don't . Well the last Doc I have seen on Tuesday of this week

seems to think that there is a 75 % chance that it is CMT. Any advice to a

person at the beginning of being diagnosed will be helpful .THANKS

in advance.

[Guest guest]

Hi Peggy,

I assume the doc you have seen is a Neurologist. If not, then I would

suggest one. Most likely since there is a family history, the doc will

want to ask questions about members. For testing, there is the EMG/NCV,

also the DNA blood test (not all 'types' of CMT are found however), and

there is also the newest and less invasive skin biopsy. If your doctor doesn't

mention these tests, speak up and ask about them for a CMT diagnosis.

Gretchen

[Guest guest]

Hi Peggy,

I am 59 and have CMT. I was diagnosed about 4 years ago after

multiple episodes of the usual symptoms...falling, weakness, inability to walk

without difficulty, extremely poor balance, etc. Now my hands are also

affected, small motor skills such as buttons are impossible, holding keys or

pen are difficult. I got my initial diagnosis from a neurologist, the first

one didn't seem to care that much.

Get ready...we have an orphan disease and don't get the same attention

as folks with much worse diseases, such as MS and ALS. I freely admit

they are much worse, but I didn't like being blown off, this is not a

lot of fun either.

I found a 2nd neurologist, I had the EEG but he told me even before the test

that I had CMT, he could tell just by watching me walk. He told me straight up

that THIS DISEASE IS PROGRESSIVE AND THERE IS NO CURE. You have to accept that

and work to just make things better, instead of running around looking for a

cure that doesn't exist. He told me all the options - canes, braces etc. - and

said I would tell him when I was ready.

He was right, 6 months ago I was too unstable and asked for a

cane. Last month I was even more unstable in my walk & went to a

walker. Last week I asked for the AFOs (leg braces). I just got them

yesterday, I am just getting used to them (they are hinged) and I drove a car

without difficulty. My gait is still unstable, I think I have a weak hip, so

I'm using the walker ntil get used to these things, I see the neuro again

next Wed.

This week I had Athena Labs come out for the genetic test to find out which

one I have, if they can. I had a blood test, they just drew one vial of blood,

not a big deal at all. I'm sure my Dad had this,but he also had Parkinson's

so it was probably thought to be that.

I did the DNA test really for my kids, so they know what I have for the

grandchildren to be monitored. I have 3 adult kids, my 2 sons both show

symptoms, my daughter does not.

My advice..get a GOOD neurologist, ask him if he has had EXPERIENCE

with CMT (not just heard about it in med school). If he blows you off, move on

to somebody else. It's your money and your well-being, so don't settle for

somebody who doesn't take your condition seriously. There are some good web

sites out there...my favorite is cmt.org.

Before I got my braces, put my dilemma on the forum wth my questions

and got so many great responses from people all over the world telling

me about their braces, pros and cons, so I was able to meet the

othotist with some really good front-end questions.

Good luck to you!

Jeanne

[Guest guest]

Peggy,

I will be 60 in July and was diagnosed about four and a half years

ago. I started with an AFO on my left foot, since that was my worse,

and about a year later, progressed to getting one for my right foot,

also. I am on my third pair now and haven't needed any adjustments

for several months. I have never needed to use a cane, walker, or

anything else. I can walk without my AFOs on, but I look and feel

very handicapped. If at some point AFOs are suggested for you, don't

be scared. Mine have been great and have enabled me to do just about

anything.