Shining a light on a painful and little-known disease
It’s one of the most common inherited neurological conditions in the world, but most people have never heard of Charcot-Marie-Tooth Syndrome. Sheena Grant reports
RETIRED businessman Norman Hume stoops down to roll up his trouser leg and reveal his ankles. They no longer flex at the joint like most people’s do. Norman’s ankles have been surgically “fused” to counter the effects of Charcot-Marie-Tooth Syndrome.
“It’s a little odd to start with,” he says. “But you soon get used to it and if I had not had it done I doubt I would be able to walk any longer.”
Norman, 63, who lives in Great Cornard, has been affected by the little-known inherited neurological disorder for most of his life.
Progressive, debilitating and currently incurable, it affects around 23,000 people in the UK, causing muscle weakness to the lower legs and hands.
Experts say early detection can improve the lives of sufferers and while most people are diagnosed in adolescence or early adulthood, it is not identified in others until later in life because of a general lack of awareness in the medical profession.
As a result many people who have CMT are fatigued, walk awkwardly and endure painful limbs, twisted ankles, balance problems and falls for many years without ever knowing why, often leaving them bewildered and isolated.
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Norman can still remember the first time he noticed what he now believes may have been the first signs of CMT. He was just 12.
“I was trying to walk on tip-toes and on the heels of my feet, as children do, and found I could no longer do it,” he says.
Later, he had difficulty picking up small objects and experienced foot problems. By the time Norman was in his early 20s he had been diagnosed with CMT. His older brother also has the condition but no-one else that he knows of in his family is affected.
“My mother died when I was six, from breast cancer. She was 28. I sometimes wonder if it could have come through her but we’ll never know for sure,” he says.
“When I was diagnosed I was told nothing could be done. That was it, really. There was no treatment and I was told it would get progressively worse. I’ve never been one to worry about my health too much and other than that I was pretty well, so I just got on with things. I’ve never restricted what I want to do because of the CMT.”
Norman’s pragmatic attitude has served him well.
After working in a garage in his youth he got a job as a trainee plumber and went on to set up his own business.
At times, doing a manual job was not easy but Norman coped by just “finding ways round” anything that was initially problematic.
“I am pretty determined and stubborn,” he says. “If I set my mind to do something I will do it. I’ve done a lot of carpentry in my home and rebuilt some walls too. It has never stopped me from doing things because I have always been practical.”
He retired in 2009 after falling ill with a lung condition he still suspects may be related to his CMT, although doctors have told him otherwise.
Since then he has noticed his CMT has worsened, which he believes is a direct result of being less physically active. He has no feeling in his feet and a lot of the sensation in his hands is gone. But, he says, he is still in much better shape than many other CMT sufferers.
And those fused ankles have a big role to play in that.
It was during a holiday to the Far East to celebrate his 25th wedding anniversary in 1997 that he tore the ligaments in one ankle, leaving him on crutches for the rest of the year. The same thing happened to the other ankle on a holiday to the Dominican Republic the following year.
His wife, Anne, had to push him around in a wheelchair for the duration of both holidays.
As a result Norman made the decision to pay for surgery to “fuse” his ankles - he was in plaster for 16 weeks after each operation.
“The bones are fixed to titanium plates and fused,” he says. “Having the operations meant I was able to continue working. Without them I would have lost my business and my mobility. I would have been in a wheelchair.”
He has also had “tendon transfer” operations on his hands to help the mobility in his thumbs and had his toes straightened.
“I’ve accepted that if I want to retain some mobility I have to go into hospital and have surgery to do so,” he says.
After his ankle operations he made contact with the charity CMT UK, which he credits with helping keep him informed about various aspects of the disease.
“There’s no specific treatment for CMT but if you need support they can help you,” he says.
“There are some people with CMT who end up in wheelchairs quite early on. It really is a bad complaint. I am lucky because in terms of CMT I am reasonably lightly affected. It hasn’t been without its problems but I have overcome them by having these operations.
“People are beginning to understand more about it now, including those in the medical profession. I think it’s really important to raise awareness and for people out there who may be suffering in silence, to let them know they are not alone. It’s really important that if anyone out there has any concerns or shows any of the symptoms to contact their doctor without delay.”
Because the disease is inherited, Norman says his father felt terrible guilt about the fact that two sons were affected, even though neither he nor anyone else in his family was known to have CMT.
“There is apparently a 50% chance the disease can be passed on to any children,” he says. “I couldn’t have children anyway, but if I could have done it would have been very selfish bringing a child into the world knowing they may well suffer from this.”
n For more information visit www.cmt.org.uk or email Norman on firstname.lastname@example.org