Faith in the future | Action Medical Research

Touching Lives - November 2006

Faith in the future

With no history of muscular or skeletal problems in his family, he sought help from doctors and physiotherapists, but it wasn’t until he was 21 that he got a diagnosis of muscular dystrophy — a progressive weakening and wasting of the muscles, and a condition for which there is currently no cure.

Mark is one of about 30,000 people in the UK living with a neuromuscular condition like muscular dystrophy. Some are affected as very young children but others, like Mark, have no symptoms at all until they reach adulthood.

Despite the initial shock of diagnosis, 27-year-old Mark has been determined not to let his condition dominate his life. A successful businessman, he recently became a dad for the first time and is planning to marry his girlfriend Rowena next year.

Determined He says, “I have always been a very determined sort of person and although it was a surprise to be told I had a rare form of muscular dystrophy, I decided that I had to carry on as normally as possible, for as long as possible.

“Because my body is not producing the proteins needed to keep them healthy, the muscles in my legs will progressively weaken and I know that I will end up in a wheelchair. My other muscles will also be affected and already it can be a problem standing for long periods or holding things.

“But I have to remember that I’m lucky in that I haven’t got one of the life threatening forms of muscular dystrophy. Although my life will change, the progression of the disease will be relatively slow and I’m able to do things to prepare for those changes.

“I run my own business, and because I can’t run around on a sports field any more, I tend to put all my energies into work instead. My aim is to build the business up now and get myself into a position where I can retire early.”

Mark has two brothers, but neither has muscular dystrophy, and he admits it was frustrating trying to find out what was wrong. Many sufferers with adult onset muscular dystrophy face the same struggle to get an accurate diagnosis, whereas other forms of the condition, such as Duchenne muscular dystrophy, are identified in infancy.

Progressive The term muscular dystrophy covers a group of conditions where there is a progressive wasting and weakening of muscle. Because there are so many different types of muscular dystrophy, one way to distinguish the differences is by looking at the muscles that are involved. Mark suffers from limb girlde muscular dystrophy, or LGMD, which generally causes weakness in the large muscles around the top part of the arms and legs. Usually weakness of the legs is the sign that something is wrong.

Mark said, “I had been fit and strong all my life and was going for physiotherapy that just wasn’t helping at all, which was quite puzzling. Although it came as a surprise, at least having a diagnosis means I can plan for the future.”

The weakening of his muscles means that Mark has had to adapt in many ways. When walking, he has to check the evenness of a surface, or he could easily trip; he also has to get himself up out of a chair in a different way.

He says,”Anyone with mobility problems will tell you of the frustration — we live in such a fast moving world. People say the way I have dealt with it all is inspiring, but I don’t see it like that. I have a physical condition and I just have to get on with it. I can still go out to work and I can still socialise. I’ve been lucky to have a very supportive family. My girlfriend has known about it since day one and her help has been invaluable.”

Mark lives in Manchester but his business is based in Chesterfield, and he makes the 45-mile drive several times a week. Mark owns out-sourced call centres, working for large multi-national companies to help them sell their products.

He says, “I wouldn’t say that being diagnosed with muscular dystrophy was the reason for starting the business — I always wanted to do that — but in some ways it has made me more determined to make it a success.

“Having a progressive illness of any sort means you have to look to the future and at what your physical limitations might be in years to come. Having a family to provide for makes that preparation even more important.”

Research Mark is determined to do what he can to encourage more research into the various forms of muscular dystrophy, in the hope that one day treatments will be available.

He says, “It’s particularly sad to know that very young children are diagnosed with the much more severe forms of muscular dystrophy that have a catastrophic effect on their lives, and for which there is still no cure. Anything that can be done to encourage research into the condition must be done — I’m sure there is a cure out there just waiting to be found.

“For now, it’s important for me to stay as fit and active as I can and to concentrate on my business and my family. In a few years I know I will have to slow down — but at least I might have an excuse for not doing the washing up!” TL

Muscular Dystrophy — the facts

• There are many types of muscular dystrophy and related conditions, all characterised by dramatic loss of muscle strength.The conditions are mainly inherited, and can shorten life expectancy — some forms of muscular dystrophy even weaken the heart muscles.There are currently no cures, though there have been advances in treating the symptoms.The conditions can affect people of all ages and across all ethnic groups — sometimes more than once in a family.

• In most cases, muscular dystrophy is inherited, which means the sufferer must have inherited a faulty gene from on or both parents. Some forms of the disease, such as Duchenne, only affect boys, but girls carry the rogue gene and genetic ‘screening’ tests are available to assess the risks.

• Our understanding of the muscular dystrophies has improved dramatically over the last few years but complex tests may be needed to reach diagnosis. This can include examination of a muscle biopsy and also DNA tests.

• Not all neuromuscular conditions are inherited — some conditions are “autoimmune”, which means a person’s immune system turns inwards to attack targets within the body, rather than fighting off external dangers. TL

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