I'm type 1 but my subtype is unknown.
xxx

When we got engaged I did the honourable thing and told her of my past, how I wasn't expected to walk and, although apparently fine now, it could all come back and I could end up a cripple again.  Whether she actually understood the possible consequences I'm not sure but she accepted me anyway.  4 years later we had our first daughter who was born beautiful, strait footed and extremely noisy.

Another 4 years, we had moved back into Essex and was expecting our second child. I had just finished building a one story extension to the back of the house and was finding the old pains were returning.  However I just put it down to the excessive, heavy work I'd been doing and assumed it would go away now it was all finished.  We had also recently signed on with a new GP and at the 'interview' stage he asked two curious questions.  What problems do you have with your feet and what Indian blood do you have.  I say curious because I didn't think it showed that much just walking into his office, nor had I pieced together the hereditary bit.  I briefly told him of the complications at birth, completely forgot about the re-diagnosis of the neuropathy, and said about the Portuguese blood but thought it might be Indian.   He suggested I try to find out where it came in and that he would see me again when the papers came through.

My next appointment was a month later, my feet were hurting more and he had received my medical records.  He asked immediately if I had traced the mixed blood and I answered yes, it comes from a great great grandfather name Victorio Rebeiro.  He then asked if it was spelt with e's or a's to which I just gave a blank look.  Apparently the Portuguese spelling is Rabairo and many years ago they had invaded part of India, Goa, nationalised the Indians overnight and gave them Portuguese names miss spelt with e's instead of a's.  He then asked me if I knew exactly what was wrong with me, I could only tell him it was a birth defect and oh yeah, at 20 I was told I had old nerve endings.  He smiled at tat and asked “Do you know what it's called and how it affects you?” To which I answered “No”.

He told me, according to my records I was diagnosed with CMT, Charcott Marie Tooth syndrome, often referred to as a HMSN (hereditary motor & sensory neuropathy)  Hmm ok; he told me a little bit more about it and told me how to research it.  This was a good strategy, finding out of a sudden that you had CMT and then having all the implications explain would be quite devastating for I think it would have been for me.  However, by researching it I became clinically fascinated by it all and by the time I had applied it to myself I had only a night of being rather upset.  But that soon past and I went back and asked “What now?” 

My research on CMT and my genealogy study came together.  I knew that this hereditary syndrome was most affective if both parents were carriers and I had traced my Rebeiro line down to two sisters, the Bridgewater girls.  Dorothy married a Dazely and gave birth to my mother.  Her sister, Vera, married a Gregory and gave birth to my father.  That made my mum was my 1st cousin once removed, my brother was my second cousin and both my parents had carried the CMT strain down to me.  I had two girls and it was hinted that the group of CMT I had was likely to be carried by girls and a 50% chance of being affected in boys.  So the big snip was called for and not a moment too soon.  There was a pattern, married in 1980 ( a leap year), first child 1984 ( a leap year), second child in 1988 ( a leap year), and now it was early 1991, getting a bit close!

OK so now that I understood my condition and how it worked it was my duty to tell what family I could so they could watch out for it in their children.  For a while it felt like I was the cause, as if I was contaminating everyone even though my brain told me this was rubbish my heart was heavy.

The next decade was a serious of operations; triple arthrodesis, metatarsal fusions; various orthotics made in the form of shoes, boots, splints etc. and several injections between them all.  All this I understood was to alleviate the pain for a while as I had been made aware that there is no cure for CMT, just procedures to help me cope with it.  I had been told in the early diagnosis that physio would not help and I assumed this still to be true.  All of which were temporary measures and after all that came a new truth, a mixture of relief, disillusionment and a whole new set of questions. 

Part four brings us up to the present and outlines possible futures.

Thanks in advance

Sam

Researchers from Wayne State University, the National Hospital for Neurology and Neuroscience, Queens Square, London, UK, University of Pennsylvania, Children’s Hospital of Philadelphia, University of Rochester, NY, University of Sydney, Australia, and C. Besta Neurological Institute, Milan, Italy are teaming up to create what we hope will be the largest contact registry of patients with CMT in the world.

Working with the CMTA, CMTUK and the Muscular Dystrophy Association (our three patient advocacy groups) we hope to obtain information from people with CMT about what factors they believe are important treatment targets for future therapies.

Please consider helping us develop more effective treatments for CMT. You can sign up to become part of the Contact Registry at the RDCRN website: http://rarediseasesnetwork.epi.usf.edu/INC/ That way, you would be among the first to know about any new information from this research or if clinical trials become available for your type of CMT.

Posted on behalf of Mike Shy, at Wayne State University!!

EDIT BY SAM LEWIS TO CORRECT INVALID LINK:

This link takes you to the RDCRN Home Page:   http://rarediseasesnetwork.epi.usf.edu/
This link takes you to the Inherited Neuropathy Consortium section of the site:    http://rarediseasesnetwork.epi.usf.edu/INC/
This link lists Current Research studies:  http://rarediseasesnetwork.epi.usf.edu/INC/studies/

Just wanted to ask if any of you feel the same as I'm feeling at the moment? As I said I always knew there was something wrong as far back as I can remember, however as I've had about 15 operations to correct deformities in both feet and legs I just thought it was because I had weak bones or something like that. But over the last 12 to 18 months I've noticed that the pains and pins and needles in both my arms and legs are becoming unbearable, especially during the night. It actually feels as if my arms and legs are swelling up and are going to explode. It has got to the point where I can hardly lift myself out of bed or even a chair. I've found that by about lunchtime I am absolutely worn out and have no strength left to do anything. I have been prescribed pregamblin 25mgs by my neurologist but it doesn't seem to have any affect and I was wondering whether I should ask to have the dose increased?

Is this all in my mind, or is it a sign that the condition is getting worse and progressing to another stage?

Thanks for listening

Markus

http://www.trekbikes.com/uk/en/bikes/ki … ntrain206/

This was taken on our first ride and she pedaled most off 22 miles

And today she is quite happy to ride with me into Birmingham and back  using the canel towpath (49miles return) as long as its not everyweek she says

A recent picture

We do short rides too and live very close to Chasewater and Cannock chase , if anyone would like to join us anytime get in touch

Rob

My symptoms started at a very low level, when I was continually going over on my right ankle which resulted in numerous sprains. I now have foot drop, very weak calf muscles and muscle wastage in my hands.  I use a crutch to aid my walking as my balance is very poor.  My right side is worse than my left.  I will find out more detail when I visit my neurologist next week for the results of my nerve conduction test.

In hindsight my Mum must have had it all her life as she told me she had worn callipers from an early age upto about 5 years of age.  She also had high arches and club toes and always had difficulty walking.  In later life she had muscle wastage in her hands.

I now wonder whether my 18 year old daughter has inherited it from me although she has not got high arches or does not show any signs,   She also is very active, plays football and regulary attends the gym.  Once she has finished her A level exams next month I will tell her about my condition and then she can decide whether she wants to have the blood test!

Sorry to rabbit on but is so good to talk to other CMTers who know just exactly what I am feeling.  So glad I hsve found this site!

Maxine

Natalina

It will be great to get them back and eventually be able to use them (hopefully!!!)

Anyone else had problems with getting AFOs to fit?

Look forward to reading any helpful, hopeful, comments!