Charcot Marie Tooth

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*    Introduction

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This is an account of my condition.  I have Charcot Marie Tooth, CMT Type 1.  I have had people approach me, wanting to know more about my CMT and how it affects me in my day to day life.

I know this is long, but I cannot truly voice everything that is relevant AND keep it short without missing out something vital, so please be patient and read it all.

I apologise if my account is blunt and bitter, but that is how I feel about this condition and what it is doing to me.

I feel it is important to stress that my view on my CMT is not how everyone feels about their own CMT.  I will be the first to admit, I am probably more than a little negative about my CMT.  I have spoken to many CMT sufferers who are very positive in their outlook.  I find I struggle to stay positive but I will go into more detail on this later.

There are several “types” of CMT and within each type symptoms can occur with varying degrees of severity on different people.  My type is CMT Type 1 and this is an de-mylinating form of CMT.

In my case, CMT is not life threatening.  It is continually progressive until death and at this present moment in time I feel is in a “moderate” stage (having passed through mild and yet to go to severe).

For regular updates on how I am feeling, why not take a look at my blog using the menu down the left of the page and do please feel free to take a look at the guestbook and leave comments for me and others to see.

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 **UPDATE**  6 August 2009 - I wanted to post an update on my mental state of mind since creating this website and the forum www.charcotmarietooth.freeforums.org .  

I have found running this website and forum has helped so much in getting me to a "better place", of course I still have many, many low moments but being able to help others in the same position as me and in many cases being able to continue those friendships on the forum, being able to compare notes and engage in friendly day to day chat with like minded people mean I am able to honstly say that I feel better equiped to deal with day to day living and better equiped to be able to approach medical professionals and get what I need to live my life the best I can.  

So thanks you to all those who have helped me, whether through a small meaningful comment left for me or through the ongoing friendship I have found with many of you.       

I don't want to completely remove the sections below as it all still applies on those frequent low days and I know many of you have been able to relate to this feeling.  To those people, I want you know that there IS a way forward and there ARE many people who feel like you do.  Finding them is the hard part, and I hope I can help with that. 

*** Foot and leg abnormalities – I have unusually high arches and wide feet and also have hammer toes.  My lower legs also have poor tone to them with there being significant lack of “bulk” where there should be a rounded calf muscle.  For this reason the legs of people with CMT are often described as being the shape of an inverted champagne bottle

*** Foot drop – which means the muscles of the foot and ankle are weak, caused by poor nerve conduction, which interferes with my ability to flex the ankle and walk with a normal heel-toe pattern. The toes touch the ground before the heel, causing me to trip or lose balance.  This in turn means I walk “funny”, often with a limp  depending on how fatigued (tired) I am feeling that day.

*** Metatarsal / Shin Pain - I get mostly dull but turning sometimes sharp pains in my shins and also bad pain in my feet, like my bones are being crushed very slowly.

*** Electric Shock Pains (Feet) - 9/9/2009 - I am getting the most horrible electric shock type pains on the underside of my three middle toes on the right foot. They go on intermittently for several hours and really hurt and have made me cry out in pain several times. 

*** Balance issues, with balance particularly being a problem when on uneven ground or standing still

*** Manual Dexterity problems with hands, mostly affecting and weakening my “pincer” grip.  Clinical diagnosis of Carpel Tunnel Syndrome.  Nerve Conduction Tests inconclusive due to already greatly reduced nerve conduction speed from CMT.

*** Numbness – I have some numbness in my feet and legs, meaning I often can’t quite feel how hot the bath water is until it is too late and I look the colour of a tomato!  This numbness never seems to come into force when I stub my toe though!!

*** Cold extremities – I often have cold hands but my feet are usually colder, and colder more frequently.  My feet and lower legs can be icy cold and nothing really can warm them up.  

*** General Aches - in my feet, back and most of my body.  I do get occasional aches in other joints too, particularly my knees
     

*** Hand / Arm Pain - This is mostly in my right hand/arm and the pain is present more often than not recently.  Most of the time this is dull aches most of my hand extending up the top of my forearm. This on occasions turns to more severe aches in my forearm accompanied by sharp and tingling pain my my hand... usually in my little finger the most getting a little duller towards my index finger with quite a bit of pain and stiffness in my thumb. Update @ 10/9/2009 = For some time now I have experienced mild cramping in my hands during the night caused by my hand involuntarily clenching up during sleep.  In recent weeks this clenching and cramping has got consideraby worse and I frequntly wake up with painful hands and fingers as a result.

*** Tremors in my hands, a shaking sensation that I can’t control.

*** Twitching muscles – my thigh muscles and upper arm muscles often twitch uncontrollably and are irritating more than painful.  Twitching also in my eyelids making me look on occasion like I have a nervous twitch!  As yet, am able to hide that behind my glasses when it happens.  Not sure at this point whether the eyelids are a symptom of CMT or something else.

*** Chronic Fatigue – I get extreme mental and physical tiredness caused by having to put alot more effort both physically and mentally into getting my body to do things that are second nature for others. (see the section entitled “I’m So Tired!” below).

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I would love to say that I just get on with life and take each and every day as it comes but that would be a lie.  CMT affects me and I hate it.  I hate the way that it has total control over me and I cannot do anything at all without CMT affecting and often preventing me from doing it at all. 

I hate the fact that I can’t do simple things like running.  I hate that I can’t go for a lovely long walk with my dogs without worrying and having to plan the walk so that we don’t encounter terrain that I can’t manage.

I hate that my CMT is making me miserable and this in turn makes me more miserable.

It often makes me so miserable that I would rather not be alive. 

Having said all of this there are many days that I do feel happy.  I would never go so far as to say I feel happy about myself because as long as I can’t do the simple things in life, that will never happen.  However, I have many happy moments and generally live a happy life.  Although I get constant reminders of my condition I try to forget all about it and just get on with things.  This works ... most of the time!

This section takes wording from a well known piece of writing, adapted for my needs as it describes perfectly what is going on, better than I could describe if I had to start with blank sheet of paper myself. 

Having what is, at the moment, a relatively invisible disability means that whilst alot of the things happening to me are invisible, many things are going on. Just because you can't see them doesn't mean they aren't real.

Most people don't understand much about CMT and its effects, and of those that think they know, many are actually mis-informed.

In the spirit of informing those who wish to understand:

These are the things that I would like you to understand about me before you judge me...

Please understand that having CMT and the pain that comes with it doesn't mean I'm not still a human being.  I have to spend most of my day being very careful in what I do.  I am usually in at least some pain and am usually tired, and sometimes I probably don't seem like much fun to be with, but I'm still me, stuck inside this body.  I still worry about work, my family, my friends, and most of the time, I'd still like to hear you talk about yours, too.

Please understand the difference between "happy" and "healthy".  When you've got the flu, you probably feel miserable with it, but I've lived with the CMT for years.  I can't be miserable all the time. In fact, I work hard at not being miserable.  So, if you're talking to me and I sound happy, it means I'm happy.  That's all.  It doesn't mean that I'm not in pain, or tired, or that I'm getting better.  Please don't say, "Oh, you're sounding better!" or "But you look so healthy!"  I am sounding happy and trying to look normal. If you want to comment on that, you're welcome.

Please understand that being able to stand up for five minutes doesn't necessarily mean that I can stand up for ten minutes, or an hour.  It's quite likely that doing that five minutes has exhausted my resources and I'll need to recover - imagine an athlete after a race. They couldn't repeat that feat right away either.  It can be like a yo-yo. I never know from day to day, how I am going to feel when I wake up.  On some days, I never know from minute to minute. That is one of the hardest and most frustrating things.

Please repeat the above paragraph substituting, "sitting", "walking", "thinking", "concentrating", "being sociable" and so on, it applies to everything I do.

Please understand that the effects of CMT are variable.  It's quite possible (for me, it's common) that one day I am able to walk around town , while the next day I'll have trouble walking to the next room.  Please don't attack me when I'm worse by saying, "But you did it before!".  If you want me to do something, ask if I can and I'll tell you.  Similarly, my illness/disability may vary suddenly, meaning I may need to cancel an invitation at the last minute, if this happens please do not take it personally.

Please understand that "getting out and doing things" does not make me feel better, and can often make me worse.  Telling me that I need to do some things to "get my mind off of it", may frustrate me to tears, and is not correct.   Also, CMT may cause secondary depression (wouldn't you get depressed if you were hurting and frustrated constantly for months or years?), telling me that I need some fresh air and exercise is not correct and probably not appreciated - if I could possibly do it that, I would.

Please understand that if I say I have to sit down/lie down/take these pills now, that I do have to do it right now - it can't be put off or forgotten just because I'm doing something else more exciting. CMT does not forgive its victims easily.

Please understand that I can't spend all of my energy trying to get well from my incurable disability. With a short-term illness like the flu, you can afford to put life on hold for a week or two while you get well.  But an important part of having a progressive disability is coming to the realization that you have to spend energy on having a life. This doesn't mean I'm not trying to get better. It doesn't mean I've given up.  It's just how life is when you're dealing with CMT.

If you want to suggest a cure to me, please don't.  It's not because I don't appreciate the thought; and it's not because I don't want to get well.  It's because I have had/tried almost every single one of my friends suggestions at one point or another.  At first I tried them all, but then I realized that I was using up so much energy trying things that I was making myself sicker, not better. If there was something that cured, or even helped, all people with CMT then we'd know about it. There is worldwide network (both on and off the Internet) between people with CMT, if something worked we would know about it.

If after reading that, you still want to suggest a cure, then do it if you must. Preferably in writing and accompanied by the scientific papers that prove it works. But don't expect me to rush out and try it.  I might not even reply.  If I haven't had it or something like it suggested before, and it sounds reasonable, I'll probably take what you said and discuss it with my doctor.

If I seem touchy, it's probably because I am.  It's not how I mean to be.  As a matter of fact, I try very hard to be normal.  I hope you will try to understand. I have been, and am still, going through a lot.  CMT can be exhausting and exasperating. Almost all the time, I know that I am doing my best to cope with this, and live my life to the best of my ability. 

I ask you to bear with me, and accept me as I am. I know that you cannot literally understand my situation unless you have been in my shoes, but as much as is possible, I am asking you to try to be understanding in general.

In many ways I depend on you, people who are able-bodied – for many things. But most importantly, I need you to understand me.  It really does mean a lot.

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