My Life with CMT type 1a

[Samson360]

So I thought it was time to give a little bit about living with CMT. My mother noticed that at about eight or nine years old that I was walking differently and took me to the doctor. It took a couple of years of being in and out of hospital and having every test imaginable. Finally a neurologist diagnosed me at 11 years old with having Charcot Marie Tooth disease. I started wearing leg braces and have ever since. I was a very rambunctious and active little boy so it didn't slow me down much. The worst thing was that at the age of 12 I lost most of my vision to "Lebers Optic Atrophy", which the research continues as to whether or not the two are connected. I had to begin attending a school for the blind which was, at first, really hard. But it was the best thing that could have happened to me at the time. I was severely bullied in public school for the way I walked, but at the Academy I met some really wonderful people and made some really great friends. My legs were extremely underdeveloped, so I was apprehensive when my coach asked me to join the swim team. My mother instilled in me cannot let my disabilities get in my way of living life to the fullest as best I could. So I did join the swim team and it was a great experience. In the 12th grade my church had a prayer vigil for me and my vision spontaneously returned a lot. I even was able to get my drivers license and go on to get a degree, and of all things, photography. Although I didn't really practice my photography mostly because I was still severely colorblind but I kept it as a hobby. I'm 53 now and my life, as most of you, has had its ups and downs, but I stuck with continuing to do things that I thought maybe I could not. I just looked at anything I was facing as a challenge to overcome. A few years back, I even fulfilled a lifelong dream of flying like Superman. My nephew and I went skydiving and it was great. At this point in my life my vision has worsened and I can't drive anymore, I am considered to be legally blind. I have been volunteering for the past five years at a local ministry called, "Hand of Hope" and that's where I have found a very important purpose because I have always tried to help people in one way or another. My CMT has also steadily gotten worse. I can still walk but it's very difficult and I have very little movement in my hands but I deal with it as best I can. I also have been managing a Facebook page for about six years now on anything and everything to do with CMT. I mostly focus on children with the disease. I post most anything that has to do with CMT research, but also personal stories of people living with CMT. I get questions from parents regarding their child and I do what I can to help ease their worry, whether it's researching something or just talking to them. So that's most of my story and here is the link to my page if anyone is interested. facebook.com/Quentinscausef...

[DawnD]

Thank you, Samson (or is it Quentin?) for your story. I am glad that you managed to be diagnosed and got help as a child.

I will have a look at your Facebook page when I log in.

[Samson360 in reply to DawnD]

It is Quentin. Samson was once my black lab...What are your experiences with CMT?

[DawnD in reply to Samson360]

Hi Quentin. Well, I had always had wide feet and high arches, and difficulty with getting shoes, couldn't run very well, etc., but all my parents were told was that I had knock knees and pigeon-toes! Eventually I had to have my shoes made via my local hospital (Surgical Appliance Clinic!). We only found out about the CMT 7 or 8 years ago now - my Dad, although he had always walked slightly oddly, kicking his foot out with each step, started falling over in his mid 70s. Eventually he was diagnosed with CMT1A, and the description fit my symptoms as well - I had already asked my doctor to check my reflexes, which showed that I had no discernable ones in either arms or legs - but, as there was no family history at that time (my Dad was adopted) the doctor didn't put together with reflexes and my 'funny feet'! This time, however, as soon as I showed her the letter relating to my dad's diagnosis, she agreed that it looked like I had it, and arranged for me to see a Consultant very quickly, who also agreed that it looked like I had it, and he said I had noticeable muscle loss in my hands. I then had the nerve conduction tests, which showed my electrical pulses (?) worked at about half the speed they should. A blood test was also done, which confirmed that I have CMT1A.

[Samson360 in reply to DawnD]

I have had a few nerve conduction test and I'm sure you would agree, they are not very pleasant. This is the second time someone has said something about a blood test. I was under the impression there was no such thing to diagnose CMT, I thought that it takes genetic testing but then again I don't pretend to know everything.

[DawnD in reply to Samson360]

I didn't mind the nerve conduction tests at all, strangely! I had been told (by the consultant, as well as the doctor conducting the nerve conduction test) that the only reliable way to determine whether or not you have CMT is through the genetic blood test - the nerve conduction test 'indicated' that I had CMT but it was not the medical procedure that confirmed it. The blood test also confirms which type of CMT you have.

[Samson360 in reply to DawnD]

Okay I see, Genetic blood test, my bad. I had my first nerve conduction test at about 11 years old and I cried, I don't think it is as bad as back then. Do you use leg braces and what sort of assistive devices do you use, how are your hands?

[DawnD in reply to Samson360]

I don't use leg braces, but have my shoes made, which go around my ankles to support them. I usually use walking sticks when out walking. My hands are not as strong as they used to be, but are okay.

[Samson360 in reply to DawnD]

If your interested, an online magazine did an article on me and living with CMT, if you want to read it. My Challenging, Yet Rewarding Life, With Charcot-Marie-Tooth Disease. patientworthy.com/2017/06/2...

During CMT Awareness Month, September 2017

[DawnD in reply to Samson360]

Very interesting article.

[gunner in reply to DawnD]

Hi yeah it didn't bother me much either but I did notice the limit of it had to be overridden and I noticed it said danger on the screen and after a couple of upper limit settings I then had a reaction to it. I was diagnosed after having key hole surgery on my knee after it kept throwing itself out. After completing my physio I was told to walk up and down the room when the physio said why are you walking like that, I said like what this is how I walk, so he asked a couple more who were there to look at me and after a discussion they agreed that I may have CMT and sent me for the test. And then had it confirmed. Since then around 14 other family members were discovered to have it. 😠

[Samson360]

Do you ever get on the CMTA website? There is a lot of stuff about CMT. cmtausa.org

[DawnD in reply to Samson360]

I am in England, so haven't gone on that website.

[Samson360 in reply to DawnD]

Here's the CMTA in UK...cmt.org.uk/

[Samson360]

And of course if I can, in any way, help you, if just to try to answer questions and stuff, please let me know...