13 Things You Need To Know About Muscular Dystrophy…

1. The term muscular dystrophy covers a wide range of conditions.

It's kind of an umbrella term, says physiotherapist Sunitha Narayan, clinical coordinator in neuromuscular conditions at University Hospital Southampton."Muscular dystrophy is the term used for a group of inherited genetic conditions that gradually cause weakness of muscles," Narayan says. "This eventually leads to a loss of functional abilities like walking, dressing, feeding, etc, and in some conditions can lead to death."There are branches of muscular dystrophy that only affect certain people, such as Duchenne muscular dystrophy, which mainly affects young boys. We spoke to people living with different types of muscular dystrophy to find out more about their lives.

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It’s kind of an umbrella term, says physiotherapist Sunitha Narayan, clinical coordinator in neuromuscular conditions at University Hospital Southampton.

“Muscular dystrophy is the term used for a group of inherited genetic conditions that gradually cause weakness of muscles,” Narayan says. “This eventually leads to a loss of functional abilities like walking, dressing, feeding, etc, and in some conditions can lead to death.”

There are branches of muscular dystrophy that only affect certain people, such as Duchenne muscular dystrophy, which mainly affects young boys.

We spoke to people living with different types of muscular dystrophy to find out more about their lives.

2. The main symptoms are all similar.

“The main symptoms that people recognise is weakness of muscles. This is generally described as difficulty in carrying out day-to-day activities like running, climbing stairs, and walking uphill, as well as repeated unexplained falls, difficulty opening jars, difficulty lifting arms overhead, and difficulty standing up from low surfaces”, Narayan says.

For example, the heart and lung muscles may be affected. “Depending on the muscles that are affected, a wide range of activities become difficult.”

3. But everyone faces different challenges.

"Unlike a lot of other people with Becker muscular dystrophy, at my age [32] I am still able to walk unaided. But I do face a lot of the common obstacles many disabled people face, such as using stairs, climbing steep gradients, being quite clumsy, and tiring quickly. I also walk with a slight limp and curvature of the spine (scoliosis). It can also cause pain in my lower back, hips, and pelvis due to it making these areas tight and constricted. "But on the whole I manage a lot of things pretty well. It's mainly picking things up off the ground I can have difficulty with if it's not at waist height. It's particularly difficult having a baby boy and not always being able to lift or carry him. Also as a side effect of the condition I have slight cardiomyopathy, which is common with men who have my condition. I have to take beta blockers as a precaution, which always gets looks of bemusement off chemists when I go to collect them as it's medication you don't necessarily associate with someone my age." – David Gale, 32

David Gale

“Unlike a lot of other people with Becker muscular dystrophy, at my age [32] I am still able to walk unaided. But I do face a lot of the common obstacles many disabled people face, such as using stairs, climbing steep gradients, being quite clumsy, and tiring quickly. I also walk with a slight limp and curvature of the spine (scoliosis). It can also cause pain in my lower back, hips, and pelvis due to it making these areas tight and constricted.

“But on the whole I manage a lot of things pretty well. It’s mainly picking things up off the ground I can have difficulty with if it’s not at waist height. It’s particularly difficult having a baby boy and not always being able to lift or carry him. Also as a side effect of the condition I have slight cardiomyopathy, which is common with men who have my condition. I have to take beta blockers as a precaution, which always gets looks of bemusement off chemists when I go to collect them as it’s medication you don’t necessarily associate with someone my age.” – David Gale, 32

4. There is no such thing as a typical day.

"My day-to-day routine varies widely but my illness [Karis has congenital muscular dystrophy] is progressive and although I used to be able to eat and drink, sit up, and speak quite loudly, my muscles have weakened and I am unable to do all of these things. I have never been able to walk or stand. I'm still able to speak but I need a microphone as my speech is muffled by the ventilator mask, which I have to wear full-time now. "I need assistance with all aspects of personal care, medicines, etc and I use a powered wheelchair. I also need a portable ventilator to help me breathe and I have nutrition through a gastrostomy tube as I can't eat any more. I need frequent suction for secretions and it takes me about two hours to get showered and dressed, I then have to use a machine to help me cough, after which I'm usually working on my OU work or English, maths, or French, interspersed with breaks for resting or going outside into my garden or down town shopping or for coffee. I go to a digital animation class every Friday from 4-6pm with a friend who acts as my hands for me. "I really like going to the cinema, and theatre, and I even got to Glasgow to see and meet Macklemore and Ryan Lewis, courtesy of Starlight. As you can see, it can be a life of extremes! I love travelling and we try to get to the south of France every year, but we have to drive all the way as I'm unable to fly because of the air pressures and I would need a cargo plane to take all the equipment I need with me!" – Karis Williamson

Karis Williamson

“My day-to-day routine varies widely but my illness [Karis has congenital muscular dystrophy] is progressive and although I used to be able to eat and drink, sit up, and speak quite loudly, my muscles have weakened and I am unable to do all of these things. I have never been able to walk or stand. I’m still able to speak but I need a microphone as my speech is muffled by the ventilator mask, which I have to wear full-time now.

“I need assistance with all aspects of personal care, medicines, etc and I use a powered wheelchair. I also need a portable ventilator to help me breathe and I have nutrition through a gastrostomy tube as I can’t eat any more. I need frequent suction for secretions and it takes me about two hours to get showered and dressed, I then have to use a machine to help me cough, after which I’m usually working on my OU work or English, maths, or French, interspersed with breaks for resting or going outside into my garden or down town shopping or for coffee. I go to a digital animation class every Friday from 4-6pm with a friend who acts as my hands for me.

“I really like going to the cinema, and theatre, and I even got to Glasgow to see and meet Macklemore and Ryan Lewis, courtesy of Starlight. As you can see, it can be a life of extremes! I love travelling and we try to get to the south of France every year, but we have to drive all the way as I’m unable to fly because of the air pressures and I would need a cargo plane to take all the equipment I need with me!” – Karis Williamson

5. Most people are just trying to live a normal life.

"Tommy was diagnosed with muscular dystrophy when he was 6, although we had to wait 18 painstaking months for his type to be confirmed. It was so rare, that's why it took so long [Tommy has limb girdle muscular dystrophy]."From Tommy's point of view, he would say that 'I get much more tired than everyone else', that 'my legs and arms hurt', and for everyone to understand why he can't keep up. Tommy can still walk, so it's not obvious he has a disability."He waddles when he walks but children just think he is slow and not capable. A typical day includes school as normal. Tommy may need to take more breaks if he has PE. Depending on how tired he is after school, he may need additional rest. I will always ask him how his legs are. We have a scale of 1-10. If he's 5 or above I know he needs rest. Tommy can't go to sports after-school clubs as he can't manage this. He does love his youth club though. Apart from that he is just like any other 11-year-old, playing games and doing homework." – Hayley Lloyd

Hayley Lloyd

“Tommy was diagnosed with muscular dystrophy when he was 6, although we had to wait 18 painstaking months for his type to be confirmed. It was so rare, that’s why it took so long [Tommy has limb girdle muscular dystrophy].

“From Tommy’s point of view, he would say that ‘I get much more tired than everyone else’, that ‘my legs and arms hurt’, and for everyone to understand why he can’t keep up. Tommy can still walk, so it’s not obvious he has a disability.

“He waddles when he walks but children just think he is slow and not capable. A typical day includes school as normal. Tommy may need to take more breaks if he has PE. Depending on how tired he is after school, he may need additional rest. I will always ask him how his legs are. We have a scale of 1-10. If he’s 5 or above I know he needs rest. Tommy can’t go to sports after-school clubs as he can’t manage this. He does love his youth club though. Apart from that he is just like any other 11-year-old, playing games and doing homework.” – Hayley Lloyd

6. Genetic history has a large part to play.

Though muscular dystrophy is a genetic condition, it's not as simple as testing for a gene. Narayan says: "Sometimes all you need is one faulty gene with a mutation from one parent and you could have the condition. Sometimes you need two faulty genes with mutations from both parents to manifest the condition. At other times you might have a new mutation no one else in the family has that could cause the condition. "If there is a family history, and if it is likely that other members of the family could be affected, then most genetic services will offer genetic counselling to those who might be carriers or at risk.""I was about 5 months old when I was diagnosed but it was devastating for my family. My mum had been screened for muscular dystrophy and the results said I wouldn't be born with muscular dystrophy, but obviously they were wrong. My brother had died of the same illness just before I was born and so it was the worst possible news and the process was horrific." – Karis Williamson

Claire O’Hanlon / Muscular Dystrophy UK

Though muscular dystrophy is a genetic condition, it’s not as simple as testing for a gene.

Narayan says: “Sometimes all you need is one faulty gene with a mutation from one parent and you could have the condition. Sometimes you need two faulty genes with mutations from both parents to manifest the condition. At other times you might have a new mutation no one else in the family has that could cause the condition.

“If there is a family history, and if it is likely that other members of the family could be affected, then most genetic services will offer genetic counselling to those who might be carriers or at risk.”

“I was about 5 months old when I was diagnosed but it was devastating for my family. My mum had been screened for muscular dystrophy and the results said I wouldn’t be born with muscular dystrophy, but obviously they were wrong. My brother had died of the same illness just before I was born and so it was the worst possible news and the process was horrific.” – Karis Williamson

7. Some forms of muscular dystrophy are less visible than others.

“Once, after returning back from a two-day, full-on intense conference (Action Duchenne) in London, learning about what is happening to my son’s body and brain and what the labs are doing so that I can have some treatment for my child, totally tired, drained with information…

“A woman of two young children turns to my children, who were standing in the lifts at Leeds train station, and says, ‘So which one of you two is the lazy child that needs one of those with big wheels?’, referring to my son’s wheelchair. My son is not lazy, he has poorly muscles, and at the time had some mobility but required wheelchair support for long distances. Muscular dystrophy gradually works on weakening the leg and trunk muscles and then works its way up to affect the arms, lungs, and heart. Sometimes, when the term ‘disease’ is used next to muscular dystrophy, people often presume that muscular dystrophy is a contagious illness, but it’s not.” – Anisa Kothia

8. And people can be ignorant.

“People think that everyone with muscular dystrophy is in a wheelchair and will be dead by the time we are 30. Or that being in a wheelchair or having this condition makes us in some way have a lower IQ and stupid. I have Becker muscular dystrophy, which can be very far removed in severity from the muscular dystrophy ‘stereotype’ of Duchenne. I also have an engineering degree, and I am a long way from stupid.

“I wish everyone knew that not all disability is visible straight away. If you saw me sat in a chair, you wouldn’t think I had a disability. Watch me walk up stairs and you would, but it’s not always obvious.” – Jon Powton

9. Day-to-day life involves lots of planning.

“Yusuf (who has Duchenne) has good days and bad days. The level of mood and tiredness requires thoughtful consideration about the day ahead as it will affect his physical and emotional ability to do things. If Yusuf is physically tired and/or is feeling overwhelmed by certain things, then lots of support and positive encouragement is needed to go to school and engage in activities.

“At playtimes, Yusuf requires support from his ETA (educational teaching assistant) to help him socialise with his friends and understand the rules of games so that he is able to play and keep up with them. Physio needs to be carried out in school.

“Due to the low dystrophin in his body and brain, Yusuf struggles with processing information and learning, and has a poor working memory. This means we have to do a lot of overlearning in school and at home and a lot of patience is required by Yusuf and us.” – Anisa Kothia

10. Parents have to navigate an ever-changing condition.

“Duchenne muscular dystrophy is a degenerative genetic condition that gradually causes the muscles to weaken leading to increased impairment. Yusuf’s muscles are currently weakening significantly in his legs and trunks, and the muscle strength in his arms is also weak. This decreases his ability to mobilise as he becomes extremely lethargic.

“Two years ago, Yusuf was able to crawl up the stairs and stand up off the floor. He was able to enjoy his trips to the park and carry out activities with support. We made the most out of play gyms, parks, shopping trips, etc, but now it feels like slowly these opportunities are taken away from him as he physically struggles and gets tired very easily.

“As parents, the choice to give daily oral steroids to our child was an extremely difficult decision. Steroids can prolong muscle strength for an unknown period of time. Yet we have had to weigh this decision up against the many side effects, like behavioural issues, diet, and weakened bone density.” – Anisa Kothia

11. And it can be lonely for parents and patients both.

"Tommy is currently still ambulant. We're lucky, but we're not sure how long this will last. He has a wheelchair for bad days, when he's exhausted and his legs are hurting. Tommy struggles to get upstairs now too. "Tommy wants to carry on as normal, he wants to be like his friends at school, but he's slower and can't keep up. This upsets him. I know he feels isolated sometimes, and he'll say to me: 'There's only two people in the UK with my type of muscular dystrophy. Nobody understands how I feel. You don't know what it's like to have MD.' This is very difficult for me. I'm a single mum and I have to cope with this on my own." – Hayley Lloyd

Hayley Lloyd

“Tommy is currently still ambulant. We’re lucky, but we’re not sure how long this will last. He has a wheelchair for bad days, when he’s exhausted and his legs are hurting. Tommy struggles to get upstairs now too.

“Tommy wants to carry on as normal, he wants to be like his friends at school, but he’s slower and can’t keep up. This upsets him. I know he feels isolated sometimes, and he’ll say to me: ‘There’s only two people in the UK with my type of muscular dystrophy. Nobody understands how I feel. You don’t know what it’s like to have MD.’ This is very difficult for me. I’m a single mum and I have to cope with this on my own.” – Hayley Lloyd

12. The illness has a mental impact as well as a physical one.

“The physical impact of my condition is quite mild in comparison to a lot of other sufferers. I can still walk at 42. I can’t climb a ladder, or run, or even jump without either falling off or falling over, but I can get about. I’m a foster carer for two small children. It’s busy and tiring and hard and stressful and wonderful. I do all the things everyone else does, just differently.

“This illness has had perhaps a more notable effect on my mental processing. It has very much changed the way I think and process what other people do without conscious thought. I have to plan how I move about – I have to think about each footstep, scan the ground for uneven surfaces, estimate the solidity of the ground I’m walking on, plan how much speed I need to be moving at to get up a kerb or step. It all happens very quickly, but I have to think about what I do all the time, and it can be draining.

“Other than limiting what I can physically do, all of the effects for me are in my head. Some are negatives – this condition can be hard to cope with in terms of accepting people staring at you when you fall over in the street. It can be embarrassing, it can be depressing if you let it. But in a funny way it can have positives if you look for them. Having spent so much time inside my own head, I know myself very well. I can see how I have become more determined, and more compassionate, how having to struggle every day made me stronger. So for me I suppose it’s a balance between physical limitation and determination to do it anyway.” – Jon Powton

13. And a positive mental attitude is invaluable.

"I think the main misconception in my opinion is that it's seen as a death sentence. I don't really see it that way, and I have met many other people with muscular dystrophy who live life to the full, no matter what obstacles each variation of the condition may cause." – David Gale"Sometimes society is more of a disability than having muscular dystrophy itself! When you have a life-limiting illness, every minute is precious, so I don't want to waste it negotiating obstacles either physically or metaphorically." – Karis Williamson

David Gale

“I think the main misconception in my opinion is that it’s seen as a death sentence. I don’t really see it that way, and I have met many other people with muscular dystrophy who live life to the full, no matter what obstacles each variation of the condition may cause.” – David Gale

"My day-to-day routine varies widely but my illness [Karis has congenital muscular dystrophy] is progressive and although I used to be able to eat and drink, sit up, and speak quite loudly, my muscles have weakened and I am unable to do all of these things. I have never been able to walk or stand. I'm still able to speak but I need a microphone as my speech is muffled by the ventilator mask, which I have to wear full-time now. "I need assistance with all aspects of personal care, medicines, etc and I use a powered wheelchair. I also need a portable ventilator to help me breathe and I have nutrition through a gastrostomy tube as I can't eat any more. I need frequent suction for secretions and it takes me about two hours to get showered and dressed, I then have to use a machine to help me cough, after which I'm usually working on my OU work or English, maths, or French, interspersed with breaks for resting or going outside into my garden or down town shopping or for coffee. I go to a digital animation class every Friday from 4-6pm with a friend who acts as my hands for me. "I really like going to the cinema, and theatre, and I even got to Glasgow to see and meet Macklemore and Ryan Lewis, courtesy of Starlight. As you can see, it can be a life of extremes! I love travelling and we try to get to the south of France every year, but we have to drive all the way as I'm unable to fly because of the air pressures and I would need a cargo plane to take all the equipment I need with me!" – Karis Williamson

“Sometimes society is more of a disability than having muscular dystrophy itself! When you have a life-limiting illness, every minute is precious, so I don’t want to waste it negotiating obstacles either physically or metaphorically.” – Karis Williamson

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