Friday 11 September 2015

Me and MY CMT (CMT Awareness Month 2015 - DAY11)

Welcome back to CMT Awareness Month on my blog!
Today is the day that I get down to the nitty gritty!  I am going to discuss just how CMT affects me as well as how I cope with the challenges put before me.

I have other blog things planned for the next couple of days, but on Monday I'm going to have a nice (long!) bullet point list of the daily tasks that not only I, but most people with CMT struggle with to varying degrees.  This includes getting up from chairs, tying shoe laces, and more! 

Then on Tuesday I'm going to follow this with a fun YouTube video by a girl in the USA, entitled "You know you have CMT when...." . And whilst it is designed to promote understanding of the condition, it is more than okay to have a chuckle along with us!
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Initial Diagnosis & Childhood 

Charcot-Marie-Tooth Disease is hereditary.  However, as I am adopted there is no-one else in my family with the condition.  I inherited it from my birth mother.  

My parents suspected I had CMT from a very early age, or at least suspected something was wrong.   I was diagnosed with CMT type 1 aged around 11.  

Growing up, things were difficult for me much of the time.  I fell UP the stairs a lot.  Buying shoes was a nightmare that both my Mum and I dreaded (and I still do!).  

I was bullied for being the worst person at many, many things and for the way I walked.  I excelled at being picked last for any team sports.  The one sport I WAS good at was swimming... I was very good, although I do remember I couldn't do the breaststroke leg kick to save my life!!! 

Handwriting was a big problem for me and I was even sent for lunch time "handwriting classes", like that was going to make a difference!  My handwriting pretty much always did (and still does) start out relatively neat but by the time I'd scribbled a few lines off the the chalk board in class I was struggling to keep up, my hands were really painful and I always ended up missing loads of what was written.
Me with my older brother and sister!
Looking back, the main issue I had was being rubbish at sports, coming last at everything, not keeping up with writing... all the time whilst not knowing there was a MEDICAL REASON for it!  Instead I just thought that I was not good enough, a failure.

My parents to me about my CMT 
when I was 16 years old

 I had so many mixed emotions around this time.  Being told my diagnosis made so many pennies drop that if I'd collected them all up I'd be rich!  

So many things were explained (once I'd looked up what CMT actually was!) by the symptoms I saw described in front of me.  I think that, had I been told sooner, I could have grown up appreciating my limits and not feeling like the failure I often do today.  

Recent Diagnosis & Living with CMT

In 2012 I achieved a concrete diagnosis of my exact type and subtype, which is CMT Type 1a.  This was done by blood test to enable them to search for duplication of the precise gene (pmp22) which causes CMT type 1a.  

My biggest hurdle is probably my ability to stand or walk for long periods of time.  Due to problems with balance, I find standing in one place for even a few seconds very difficult and sway around uncontrollably.  Walking too far fatigues me and leaves me feeling like I've run a marathon, and I cannot walk on uneven surfaces... grass, cobbles, sand etc. Stairs are also a big problem... something to be avoided at all costs!

My ankles are very turned in and problematic... I've had several surgeries on my hammer toes, high arches and turned in ankles with varying, not complete, success.  I've also tried different types of leg braces and these have not been a success despite almost 3 years of trips back and forth to the orthotists and umpteen emotional disappointments.

Falls are probably my biggest worry.  If I fall, I cannot get up from the ground anymore.  So if I do fall then I am stuck there.  
All these challenges mean I always have to be fully aware of what is in my path, how far I am considering walking, what piece of furniture is nearby in case I need to reach for it, whether the dogs may unexpectedly move into my path, how I pick up and put down each foot with each step and if there is a rug or curb or something for which I have to step higher. I use the sense of sight and touch actively whenever I want to move from here to there. I can’t even stop thinking about my balance and strength when standing still as the constant sense of swaying causes problems.  Indeed it can be even harder than walking.  And when forced to walk in a crowd, the awareness goes into overdrive.

This thinking and being aware and watching and feeling and balancing takes energy! I don’t realise how much more I have to mentally work just to move around and walk, something most people can do with little thought. It is something I took for granted before CMT kicked in and it draws on my strength and energy levels continuously.

I did work full time until 2011, but continued declining health and redundancy left me at home twiddling my thumbs!  In a way this was a huge relief as full time work was simply not sustainable any more.  Even now, without the rigorous schedule of my job,  I am still surprised at how thoroughly exhausted I can sometimes feel after little exertion.
Me (right) at the CMT United Kingdom Annual Conference in 2012

I'm 33 now, and have been using a walking stick almost full time for about 7 years... Yes pride is a major thing to have to overcome and it took me a while to take the plunge to use my walking stick out in public!  

A walking stick gives me more confidence and the ability to be able to do a little bit more of the things I want to do. One of my biggest hurdles was bringing myself to use a stick in front of my work colleagues and my parents.  I had to overcome so many emotions to get to the point that I could use a cane in front of work colleagues and family - pride, the feeling of loss of any sense of dignity, the feeling that the stick just signposted and highlighted my weaknesses... BUT in return for taking the plunge I gained confidence, I gained the ability to stand and have a conversation with a friend for a short while longer without my knees giving out and swaying like a drunk man!
Whilst I had grown to love my walking sticks, the greatly increased risk of falls resulted in my consultant last year strongly advising me to switch to a power wheelchair full time.  I was lucky enough to gain NHS help with getting a powerchair after a long wait, and this month managed to get a ramp installed at my bungalow in addition minor work inside to make it wheelchair accessible. The next step now, is a WAV (Wheelchair Accessible Vehicle)!  

I am using my wheelchair relatively frequently, although not all of the time.  There is an obvious need for safety, but at the same time, the more immobile I become, the faster my leg muscles will waste away, so I am trying to strike a balance between the two!  

Stress and depression can exacerbate CMT and this is something I do struggle with although in recent years, and thanks in part to building an amazing group of fellow "CMTer" friends around me, I have found ways of managing this for the most part.
I don't want your sympathy

You may have read all of this and thought “Oh, you poor, poor girl” (or maybe you haven’t thought this, but humor me for a moment!). 

I do not want you to feel sorry for me. 

Yes, sometimes I can be prone to having a good wallow but I honestly don’t want people running around me wrapping me in cotton wool and pitying me.

All I wanted to achieve through writing this is to let you into my little world, try to help you understand what CMT is and how it affects me and others like me, and also try to answer some of the questions people have asked me and others that people have been too polite or shy to ask!

Of course, if you have read this and still have any questions, don't be scared to talk to me and ask me. 
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Please do pop back each day and learn a little more about this disease.
  To read my other Awareness Month posts, simply click on the "Awareness Month" tag at the very bottom of any of these posts!
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Again, please share these posts far and wide!
If you are interested in finding out more, the UK's official charity for the disease, CMT United Kingdom, have a wealth of information.


  1. I cant really see any comments on this blog. But, I am reading with elation at the thought that there is someone out there like me. Who was the last to be picked for sports at school, was always picked on because I wasnt sporty. Have trouble standing for any legnth of time, Swaying like a palm tree in a hurricane whilst standing. Falling over every little thing including but not exhaustive to.........
    Blades of grass
    Uneven Pavement slabs
    Small stones
    uneven ground
    Small pavement edges
    Large pavement edges
    down the front step
    up the front step
    I could go on but you get the picture! I am hopless when it comes to balance, and cant do simple things like squat or kneel easily with what i call my deformed feet.
    Having looked for advice on you tube and google, i decided to google CMT blogs and hey ho, I came across yours. As it happens I know of you, we are friends on facebook and i am a member of the forum.
    I am worried as I have a neurology appointment in a few days, my first official appointment with neurology and after searching tirelessly for "what happens at a CMT neurology appointment" on you tube I gave up. However, theres plenty of vids on you tube about routine examinations, I have decided there wont be much difference from that to what will happen at my appointment. Anyway, I digress, i am going to carry on reading this. After reading the first 2 or pages I am wondering what twists your story has. Would really like to get together to do you tube vids for the UK side though if you are up for it. Maybe from an interviewer/interviewee kind of format? I dunno Hit me back.


    Jake x :)

  2. Thank you so much for sharing this Sam it has given me insight to what you cope with everyday you are such a stronger and beautiful lady inside and out I am keen to learn more so will pop back hugs hugs Sand x


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