Testing CMT kids and the what ifs

[Guest guest]

I wish they would have had a blood testing available back in the 70's. It would

have saved me a lot of pain emotional and otherwise. It makes me look forward

to even more research, discovery and hopefully a treatment for our CMT kids.

[Guest guest]

,

I sure do understand where you are coming from. And I sure hope

has something that is treatable. My parents were so thorough with

getting me all kinds of tests - many tests were still being

discovered, but I had everything there was from childhood right up

until I was about 27 (OK and as an adult had one more EMG) I must

admit there was a period of time after school that I spent more time

in docs offices that doing homework or playing even.

However, all my tests, even the biopsy and spinal tap came back

negative, which ruled out every other neuromuscular disorder the docs

had at one time " suspected " .

When I was 10 I had the tendon surgery - it just moved the foot

tendons around, criss-crossed them and made them work better. I was

never in AFOs before or after or to this day. My assignment was to

walk in the sand (I lived close to the beach) and swim as much as I

could, to strengthen those tendons, and make my feet and legs work.

That tendon surgery was the only surgery I've had for CMT to this

day. Still no need for AFOs, just wear in-shoe orthotics for a better

heel-toe gait.

You are certainly a good mother to get the best medical care and to

search for answers for .

Living with the uncertainty of CMT and the " what ifs " colored my life

pretty much until I was about 27. By then I figured those " what ifs "

were taking up too much rent in my head, and I was going out to

tackle the world and live life to the fullest, which I am still doing

26 years later.

~ Gretchen

[Guest guest]

,

I can empathise with what you are going through. My son also went through many

diagnostic tests starting at 18 months of age. He is now 3 and has been

diagnised with CMT type undetermined but confirmed to be demylinating and

recesssive trait. We had several series of blood tests( I think 4 in all) to

rule out any metabolic disorder such as Krebbs disease and Matochromatic

luecodystrophy and then the genetic tests. He underwent MRI testing of brain

and spinal cord and then finnally the EMG/NCV test which did confirm his

diagnosis.

His NCV was 12 which is extremley low, normal being about 35. Since his CMT

series was negative the neurologist based the diagnosis on clinical symptoms,

physical assessment and his EMG/NCV. I did ask my his neurolgist about

performing the biopsy, not that I wanted to put him through more testing at such

a young age but to get more of a definative diagnosis.

She stated that the biopsy was of course invasive and would require anesthesia

and the specimens were dificult to obtain without sometime getting something

other than nerve fiber. She did suggest that if he were to undergo anesthesia

for anything else such as eustation tubes this could be done at that time.

She also stated that another gene had been linked to CMT and we may do another

blood test in the future.

So bottom line. I think you may want to start with the EMG/NCV test first. I

hope you get some answers soon, the waiting and " what ifs " can be very painful.