Hi my father sister and neice all have cmt and i do show some signs but docs wont test me and cant seem to get them to. any suggestions?

[JaneM]

[John1945]

Hello JaneM.....

It is a fact that many G.P.'s / hralth professionals can go through their whole career without seeing one single case, of Charcot Marie Tooth disease: The Health Professional's (neurologiswts) prefer to call it H.M.S.N, which stands for

>HERIDITARY (pased to an offspring) ! However it can skip a generation:

>MOTOR (nerves from brain to >muscles) ! Brain command signals to your various 'lower-limbs' musle groups ?

>SENSORY (nerves from hands/feet etc, sending sensory/touch/feelings signals to your brain)

NEUROPATHY (damaged, or wasted nerves) ! A diseased condition of the nervous system?

You should insist that your G.P. refer you to see a CONSULTANT NEUROLOGIST: They are the NHS specialists on confirming that you have Cmt, and in particular, what 'sub-type' that you may have, is identified: The diagnosis is reached by a series of DNA blood tests to identify the defective gene, and you may also have a nerve conduction-velocity, (speed of nerve signals) tests:

However if you are an adult you have the right to know if you have inherited this disease ?

Always call it a Disease, and not a condition ! Usually the physical signs do not show until your mid-teens, and can poor balance - walking difficulties - high arches - lower limb weakness - fatigue etc: Current thinking on children is by taking their parents history only: Why hang a "I have got Cmt label", on them at such an early stage in their lives?

If you are diagnosed as positive Cmt, you have to accept that their is no known cure for this NEUROLOGICAL DISEASE, which as it develops can cause severe physical disability, as over the period of your lifetime the lack of full strength nerve signal to your muscles cause them to deteriorate:

In Cmt your nerves "leak" due to you having DEFECTIVE MYELYN, which is a wax like substance that "wraps-around" your nerves to insulate them, and maintain the brain to muscle signals: However in Cmt sufferers it "LEAKS":

A most Positive Mental Attitude, and including your own personal Management is totally essential for you to beat each ongoing stage of this disease !

YOU ASSESS / ACCEPT THE CHANGES : THEN ADJUST YOUR MIND, AND BODY ACCORDINGLY ! ! !

Best of luck to you....

John (Glasgow)

ps: Say so sorry Cmt "You ain't gonna beat me" !

[JaneM]

Thanks for the speedy reply to my question. I recently had bariatric surgery and since then have had a numbness in my right leg from my hip to my knee. The surgeon and my G.P have now recommended i see a neurologist because of that so hopefully once i give my history to them he may very well test me for CMT. I have been battling with my G>P since my late teens early twenties about being tested since i found my family( we were all split up and fostered and adopted out). I will let you know in due course when i eventually get my appointment and the results. Thanks for the help though. Very much appreciated John.

[Pam49]

Hi Jane

What John says is correct, you must insist that you are referred to a Neurologist as they are the only people that really know about our disease. I recently got my GP to refer me as I read in my CMT booklet that you are supposed to see a Neurologist every 12months! 1999 was the last time I saw one; however now I have been he has changed my medication accordingly and it is helping a tiny bit but not much. they will never be able to do anything about the numbness we get but they can help with the pain. Be prepared to be a walking chemist with all the tablets you will take if you are diagnosed positive for CMT. Both my children have been tested and my youngest is showing signs of it although her blood test was negative for CMT!!! Strange, but only time will tell. Like John says Be Strong, Be Positive and have a good outlook on life and CMT will Never Beat you! Take care and I hope you achieve what you want regards getting tested, don't ask them Jane TELL them you want to be tested.

Kin d regards Pam.

[Amanita]

Hullo, Jane M.!

You may not necessarily end up as a walking pharmacy............ depends on the type and severity of your CMT, I guess. I only ever take quinine tablets, and that's only a few times a year when leg cramps get really bad. But I have been given DOZENS of exercises, for legs feet and hands, to do every day to help keep me going. I do actually manage to do nearly all of them , nearly every day, but it's a real effort. Good luck with the neurologist

[mia160505]

i would change your doctor , if hes not willing to send u to be tested ,, you have members of your family with it so he has a responsability to forward you , my grandfather , mother her 2 sisters , my 2 son and my self have the disease , but its skipped my 8 year old daughter , which could be because she does not have the same father as my 2 boys , so i would'nt sit back , push for testing