With around 25,000 thought to have CMT, or Charcot-Marie-Tooth, it is UK’s most common inherited neurological condition. Yet most people have never heard of it. In fact, many people with CMT may go the majority of their lives without knowing they have the condition. It took my brother 18 years to finally get the diagnosis.
CMT is a progressive condition, meaning it gets worse with age. The genetic condition leads to the degeneration of the protective coating around the nerves, so signals sent along the nerves are not properly transmitted. It affects mainly the extremities of your body and can lead to lack of feeling in the feet, lower legs, hands, and forearms. As the annoying younger sister I am, I’ve poked and prodded at my brother’s feet as a child and wondered how on earth he felt nothing, not the slightest twinge. One of the things that makes CMT such an enigma is the fact that symptoms are so varied, even within the same family. Some people may experience extreme fatigue and muscle loss, while others lose feeling only in their feet. As well as this, the condition may not present itself until later in life and then can just be mistaken for the effects of getting old. All of these combine to make diagnosing CMT very difficult.
The absence of feeling in the legs and feet can understandably create a lot of difficulties whilst walking and standing. I try but it’s hard to imagine what it must be like to take a step and not feel your foot land on the solid floor. I can’t recall the number of times my brother has fallen over, cut his knees up, torn through jeans and had stitches in his head from falling over. It’s falling over which often leads CMT to be mistaken for clumsiness. As children, I would always run ahead of Dan and wonder why he’d fallen over again. It was only when he finally got the diagnosis, after my cousin had been diagnosed, that we realised it wasn’t Dan being clumsy and having bad balance, he literally could not feel where he was walking. His whole childhood had been shaped by something he didn’t know he had.
When I tell people about the condition my brother has, which I may develop or be a carrier of, I’m often met with blank stares. I’m currently in the process of trying to get tested to see if I carry the gene responsible for CMT, but it’s not as simple as popping to the doctor and asking because they don’t know about it either. There is so little awareness around CMT that the people suffering from it are often misunderstood and sidelined. I can only begin to imagine how frustrating it must be for Dan and others suffering from CMT.
Charcot-Marie-Tooth UK is a charity set up to help those with CMT as well as spreading awareness. More importantly they bring together people suffering from CMT by putting on kid’s weekends and gatherings for people all over the country. Its becomes clear the difference it makes being able to spend time with people going through the same troubles as you, as I always see my brother return from these meetings in a cheerier mood. The work this charity does to ensure those with CMT don’t feel sidelined and their efforts to build a community of people, is so important, and proves that CMT does not have to mean a life different from any other. It makes me hopeful that one day when we talk about CMT we won’t be faced with blank stares, but with an awareness of the UK’s most prevalent inherited neurological condition.