Hnpp and cmt

[Ashley_x]

Hi I hope that this is the right place that I have came to. I got my diagnosis yesterday it was very vague and I'm slightly confuse. I was tested for cmt and it has came back PM22 hereditary neuropathy the doctor didn't know what it was so decided to make me "feel better" by entering the hospital letter information into google. Is there anyone here who can make sense of this? Hope you are all well xxx

[Chelsea1504]

Hi. First things first don't panic. Recently my two children and husband were diagnosed with cmt1a pmp22. I'm still taking it all in and learning about it as I will be the main care provider. I don't feel qualified yet to give you information but I can assure you you're looking at the right place. You will find answers here. Also cmt.org.uk website will help. Loads of good information there. Sure someone will help you shortly. It is early on a Sunday! Best wishes. Xx

[Barry52]

No never-vague,I volunteer at the local clinical school,last Sunday I saw 24 Doctors,how many got the diagnosis,answer NONE

There is no joined up thinking in relation to CMT,the standards are very poor,information-poor.NO INFO AS TO WHATS HAPPENING REGARDING MEDICAL TRIALS ETC.....A LOT OF TALKING YES BUT NOT A LOT OF ANSWERS

[CMTUnitedKindom Partner in reply to Barry52]

We aim to provide the best possible information at cmt.org.uk.

As far as medical trials go, there are none at present, although there is a vast amount of research being done all over the world. And that is all joined up - I will be attending an International CMT consortium meeting in Antwerp at the end of June, at which there will be almost 300 scientists sharing their work, results and information.

So don't give up hope, research is happening.

Karen

[John1945]

Hello to Ashley_X

Don't panic, most doctors, and health professionals might never see a case of PM22 Type 1A (the most common type), in their medical career : Thankfully it is NOT a fatal disease :

PMP22 is a dominant genetic disease, a mutation in ONE copy of the gene PMP22, where the activity of the NORMAL gene is to compensate for the loss of function of the other defective gene :

THE LACK OF MYELIN SHEATHING (a wax like substance) WHICH WRAPS AROUND OUR NERVES TO PROVIDE INSULATION IS POOR/REDUCED, AND THEREFORE LEAKS : THUS OVER A LONG PERIOD OF TIME, THE BRAIN TO MUSCLES "WEAK SIGNALS" CAUSE YOUR MUSCLES TO WASTE : SIGNAL STRENGTH/SPEED IS CALLED VELOCITY) :

Approximately 23,000 people in the UK have Charcot Marie Tooth disease, (always call it a disease, and not a condition or, a syndrome) : In the UK, Karen at cmt.org.uk is the "oracle" on your condition, her advice is invaluable :

However, despite vast worldwide research sadly there is currently NO CURE for this disease Positive Mental Management, with adjustments to your individual lifestyle is the best treatment to avoid excess pressure on your nerves : Each individual case presents a different range of symptoms :

The health professionals call it H.M.S.N : A neurological disorder of the >>>

* Hereditary - "Passed from a carrier parent to their offspring :

* Motor - Nerves from brain TO muscles. These command nerves tell muscles what to do :

* Sensory - Nerves from fingers/feet/toes etc, send feelings signals, BACK to your brain :

* Neuropathy - All medical condition of the nervous system :

Best of luck to you ....

John (Glasgow) ....

Ps.... Tell C.M.T. "get lost - you ain't gonna beat me" !

[CMTUnitedKindom Partner in reply to John1945]

Thanks for the compliment, John - I try to be the "oracle" but the real oracle is Mary Reilly - the source of my information!

Karen

[John1945 in reply to CMTUnitedKindom]

"Aye that I'll be right"!

Modesty becomes you so much ! Karen !

You inspiration, and your ongoing ability to explain to C.M.T. UK sufferer's in a plain non-medical language, and reminding them all that "you are not alone", must be totally commended !

Best wishes to all at C.M.T. UK ("spread the word")

[Barry52]

I read with much interest the articles posted,sadly although I still work, CMT has had an huge impact on me and my life I can't mask my anger and bitterness towards my late father and this disease,having led a very active life prior to this starting,it has impacted on my working life having now worked with offenders for 17years and prior to that 10 years with HM FORCES, so I do not accept it lightly in my spare time I help service veterans young and old and try to worry about others.For those who have stated a positive mental attitude helps-ABSOLUTE RUBBISH,being positive will not help walking or pay the bills,I have realized that disability in the work place will not enhance your career only stop it,sorry if speaking the truth offends but I refuse to gloss or glam this up, I fight every day to remain positive and pro-active I only wish the so called medical experts do the same ,being and remaining in employment is so important,the current governments hounding and labeling of disabled people is a label I will if possible avoid,(well at Least try)

[bev5985]

Ashley there is nothing to be scared off CMT affects people in many different ways no doubt when Karen comes online tomorrow she will be able to assure you more fully she has lots of knowledge about this disease but the main thing is not to let is stress you out most of us do continue to live a full life even though we have to make adaptations as life goes on keep your chin up and keep smiling being positive is the main thing

[Ashley_x]

Thank you all so much for answering I feel tons better now I have been pointed in the right direction xxx