Support for CMT sufferers

As part of Charcot-Marie-Tooth awareness month, Rod McPhee met a woman diagnosed with the unpredictable disorder.

Sam Lewis is, by her own admission, as close to a classic example of someone living with Charcot-Marie-Tooth as you’re likely to encounter.

Incurable and progressive, the neurological disorder causes muscle weakness in the lower legs and hands, though the resulting level of debilitation varies enormously between individuals.

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In Sam’s case it has meant that, for the past few years, she has had to rely on leg braces and crutches just to stay upright and walk. She shows other textbook symptoms, like severe fatigue and the loss of certain hand functions, meaning she can’t do simple tasks like chopping vegetables or doing up buttons.

“But I try to remain positive,” says Sam, 30. “I think that’s important, though it isn’t always easy and I’ve gone through some difficult times with CMT.

“I used to be very self-conscious about the condition, about having to wear the leg braces and use walking sticks or crutches, but I’m over that now.

“I’m also getting over the idea that I’m a burden to people, which was a big thing for me because I’m quite independent. My other half constantly reassures me I’m not a burden, but it’s always in the back of my mind.”

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Sam lives in Settle, North Yorkshire, with her partner of eight years, Claire Turner.

Claire has had to take on a growing amount of domestic work, such as gardening and cooking, as Sam’s CMT becomes more pronounced.

Though not life-threatening, the syndrome, sometimes known as Peroneal Muscular Atrophy or Hereditary Motor and Sensory Neuropathy, presents itself as a group of conditions. These can include “clawing” of the feet and hands, as well as pain and deformity in limbs and joints.

The timing of a diagnosis can be crucial, because there are a variety of treatments available if CMT is spotted. No treatment offers a complete cure, but they can often alleviate the symptoms and slow its progression.

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Treatments vary from painkillers to surgery. Sam has had two operations, the most recent in May when she had four toes on each foot straightened with metal pins. Unfortunately, last year she was temporarily hospitalised by a stomach ulcer caused by painkillers used to treat CMT.

Although the syndrome is often discovered in adolescence or early adulthood, Sam was diagnosed at the age of five. She showed telltale symptoms, such as slow growth and a tendency to trip up a lot. She was also adopted and her birth mother was known by social services to have been a CMT sufferer too.

She has attempted to trace her birth mother, but has so far been unsuccessful. This information was passed on to doctors, which contributed to such an early diagnosis. Sadly, it didn’t help Sam.

“My adoptive parents took the decision not to tell me until I was 16 years old,” she says “Nor did they give me any treatment, which has made me wonder whether I might be in a better position today if I had. But I don’t resent them in any way.

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“Not only did they have a very ‘get-on-with-life’ attitude they also believed that not telling me and not treating me was the best way of giving me a normal childhood.

“But I think if they had told me then at least I would have understood and been able to deal with some of the problems I encountered at school. I was always the last to be picked for sports because I was never very good at it, and I was also bullied as a result.

“So I believe that awareness is absolute crucial, because it answers so many questions and early diagnosis can lead to treatment and, in my case, access to terrific support.”

The charity, CMT UK, offers help and advice to those affected by the syndrome, often throwing a lifeline to sufferers and their loved ones in desperate times.

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More importantly they are raising awareness of both symptoms and treatments through this month’s CMT Global Awareness Month which ends with a Global Awareness Day on 
September 28.

Sam received a more specific diagnosis of type 1A CMT just two years ago, which is the type which affects 80 per cent of CMT sufferers.

Unfortunately in December she was also made redundant from her office job after nine years and has struggled to find suitable work since.

In the meantime, she is facing an uncertain future wondering how quickly her condition will deteriorate. But she does so with a remarkable determination to remain upbeat.

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“I’m very lucky to have had a partner who’s supported me for all these years,” she says “And the charity has been a tremendous help, creating a network of friends and supporters who’ve really helped me through.”

Charcot-Marie-Tooth Factfile

Charcot-Marie-Tooth is named after the scientists, Professor Jean Martin Charcot, Pierre Marie 
and Howard Henry 
Tooth, who first documented the syndrome in 1886

CMT is a malfunction 
of nerves in the arms and legs which transport messages to and from 
the brain

The disorder affects some 23,000 people in the UK alone and is the most common neurological disorder in the world

CMT UK was set up in 1987 and now has around 1,700 members.

To find out more visit www.cmt.org.uk.

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