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  • Shaken Baby Syndrome

    Tuesday, 21 July 2015 16:28
  • Amniotic fluid problems

    Thursday, 14 May 2015 12:54
  • Choosing a pre-school

    Friday, 10 April 2015 17:50
  • Newborn reflexes

    Tuesday, 03 March 2015 15:49
  • Mastitis

    Tuesday, 03 March 2015 15:41
  • Pelvic floor exercises

    Wednesday, 11 February 2015 17:20
  • Colic

    Wednesday, 11 February 2015 17:11
  • Antenatal Classes

    Monday, 03 June 2013 09:34
  • Strap-in-the-Future

    Thursday, 30 June 2011 13:52

Muscular Dystrophy

Images_muscle"Imagine having a dream where your whole body has slowly been dried into a giant block of immobilized concrete and where the only way to do anything for yourself is with the help of others. Even the most basic task, breathing, can't be done without the sucking and blowing of a battery operated box. To most people this would be considered a nightmare but to me this is my life"

- Jared Aronson (Duchenne Muscular Dystrophy)


What is muscular dystrophy?

Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases that cause the progressive degeneration and weakness of the skeletal muscles that are used during voluntary movement. The term dystrophy, coined by the French physician Guillaume Duchenne, is derived from the Greek word "dys" meaning "abnormal", "diseased" or "faulty", and "troph", referring to "nutrition" or "growth". The term dystrophy therefore means the inadequate or defective growth of the muscle. Duchenne believed that dystrophy progressed as muscles continued to develop without the nutrients they needed. Although all the types of MD are associated with progressive muscle weakness and damage; they vary in age of onset, severity, and pattern of affected muscles. Many MD sufferers eventually lose the ability to walk. Some types of MD affect the heart, gastrointestinal system, endocrine glands, spine, eyes, brain and other organs. Respiratory and cardiac disease, are also possible outcomes.

MD is a genetic condition and therefore cannot be prevented. It is caused by mutations or cellular changes in the genes that are responsible for the structure and functioning of a person's muscles. The mutations can occur spontaneously or they may be inherited from one or both parents. MD affects people of both sexes and all age groups.

There is currently no treatment available that can stop or reverse the effects of MD. Treatment generally involves a combination of approaches; such as assisted ventilation, physical therapy, orthopedic aids, occupational therapy, diet, drug therapy and corrective surgery. The aim is to keep patients independent for as long as possible and prevent complications that result from weakness, reduced mobility, and cardiac and respiratory difficulties.

What is FSHD- Facioscapulohumeral muscular dystrophy?

FSHD is an inheritable, progressive muscle disease, affecting approximately 7 in 100,000 people, making it one of the most prevalent forms of MD. At the onset, muscle weakness is generally found in the face (facio), shoulders (scapula) and upper arms (humeral). Other distinctive characteristics may include; weaknesses in the muscles of the eye (to open and close) and mouth (smile, pucker, whistle). The progression of FSHD is quiet variable, but tends to be slow, moving from the face to the shoulders and arms, and down to the abdominal and foot-extensor muscles. A unique characteristic of FSHD, compared to other forms of MD, is that the muscle weakness can present asymmetrically. In other words, there can be a striking difference in the degree of muscular weakness on the left and right hand side of the body. There is currently no cure or treatment for FSHD.

Helen Kelso chats to tum2mom about being diagnosed and living with FSHD, and a possible familial history of the disease.

I was diagnosed in my early 20's and it's the Facioscapulohumeral (FSHD). In other words, it started in my shoulders. The muscles in the scapula area were the first ones to go, the ones that hold the scapula into the rib cage. Because i can't lift my arms up. With doing a lot of singing, we used to throw our arms up at the end of you know, choruses and things, and this arm kept wanting to come down. We'd always teased my mum because she was bent over and she was…. meanwhile, i obviously inherited it from her. But It was never really diagnosed in her as such. In those days they didn't really think about the disease, or know much about it because i'm originally from Northern Ireland. There wasn't much research or anything into it at that stage- its different now, but then… I noticed the problem with this arm wanting to come down when i was about 19. But its one of the thank God, slower moving dystrophies and the mildest one. I've just turned 65, so l'm doing ok. I can still get out and about, and drive and do everything. If i was going to the shops or going any distance, i actually use two ski sticks. You know what they are like? Straight sticks, long blunted handles and you hold onto them like that. I prefer to use those. I'm not using crutches now. I would use a walker around the village, you know here, but i don't take a walker with me when i go out. Obviously if i am at the shops, i will get a trolley and use that. I find in winter i am much better, summer, i…you know whats its like, the heat, you feel tired anyway, so the muscles are more tired and i am more inclined to fall then. I come from Northern Ireland and can't really take the heat, the same as other people. I do find i have to really push hard when it comes to summer. The heat definitely affects me, I find it much harder to do stuff. I don't know whether the MD has affected the heart but i have a heart condition as well. I've got atrial fibrillation, which means the heart doesn't beat properly. I'm on medication for that and i'm on Warfarin. You asked me when it was diagnosed, in my early 20's when we were in Cape Town. I had been to doctors in Northern Ireland previously and they didn't know what was wrong with me.

How has having MD impacted on your life?

I'm sort of pretty stubborn in that i want to do as much as i can for myself for as long as i can. I'm inclined sometimes to say no, no its fine, i can manage. And i've got be careful because people can be offended, if you're… So thats one thing i have to watch out for. But i am finding now, more and more, that i have to say thank you very much. Its hard when 80 year olds are looking after me. Being in a retirement village, that's how it is at times and i just wish i was able to do stuff for them, rather than them having to do stuff for me. But I look after my grandson every afternoon during the week. He's now 6.5. And i think that's good. Physically, i've got to do, whatever i'm doing, i've got to get it done now because its coming up to 12:15 and i must go. I promised Claire, my daughter, i'd fetch him. I love this little man. I always wanted more than one child. I'd only ever had Claire . And I would have obviously loved a son and a daughter or a daughter and son. It never happened, maybe it was the good lord just gave me one healthy child. Claire has sent me, mum, the son i never had, when Daniel was born. He and i get on very well. They are testing him now for ADD. But i think with me, A he knows i can't do things and B, with just the two of us together, then its a quieter atmosphere and he doesn't get as distracted. All of that i thoroughly enjoy.

Was your daughter born before you were diagnosed or after?

After, i didn't realize. He never said anything to me about hereditary at that stage and i hadn't put it together with my mother's sort of problem. We used to just tease her, my father used to tease her. Stand up straight Evelyn. Sometimes he would pin the two of us against the wall. Put your shoulders back, ha, ha. And it was all done in jokes and fun and nobody- I never put anything together. Anyway she's long gone now. She was mobile right up until the end. She never had to have, i don't think she used sticks or anything. She went bent over that way (forwards), whereas i am inclined to be bent that way (backwards). When i fall, i do go forward but very often i'll lose my balance and sit down. But i also fall and break teeth, i've got a little bit of gravel in there from one of the falls. I just trust the Lord, thats my big thing. My Christianity and my relationship with the Lord Jesus, is what is important. It keeps me going, more than anything.

Did you find that your MD affected your pregnancy in anyway or made it more difficult?

No. I've got a picture of Claire and i at the top of Golden Gate. At that stage i could still do everything. With the sticks and things its only more in the last… 5 years. I was working up until i was nearly 60. I wasn't using the sticks, the sticks have really only come in since i was 60.

What is the most difficult thing you have had to overcome since your diagnosis?

I can't put it down to any one thing- i can't- because it has been a slow process. And i think with it being a slow process, you deal with each thing as it comes along. I can't even say its losing my independence because i haven't lost it yet. I think one of the things that i am finding- It knocks your pride a bit. You've got to learn how to say thank you, for help- not i can do it. Its something i'm slowly having to learn or to ask for help. Which i've always been very, very independent. I asked my step grandson and my son in law to fix my outside light there and they've actually done it worse than it was before. I was up on the ladder trying to fix that yesterday. So i mean i still will do…I'll try anything. Its one of these sensor lights and now it doesn't go off, so i don't know what the devil they have done to it.

Have your family & friends been supportive, and are there any support groups available for people with MD?

Yes, yes, ja.

I did get divorced after 30 years of marriage. My husband was never, i mean i wasn't that bad until i was round about 50. So i was still able to get around and do without sticks or anything at that point. But i've obviously had this limp kind of walk. I just think he more didn't know how to deal with it because i was stubborn and independent. But anyway everybody else has been absolutely wonderful. He was never bad to me about it. I mean the divorce was nothing to do with that.

There is the Foundation and they might have a group for the FSHD, but i haven't been going to anything like that. I don't know… part of me says, it might be good to be around people who have the same problem, other times i look at the situation and i think, do i want to see somebody that's maybe worse then i am and i think, i'm going to be going there one day, you know. So i haven't really got involved. As far as i'm concerned, i try do as much as i possibly can. With not using walkers and things when i go to the shops, and using these sticks. I can still go to the cinema, i can still you know, i am not encumbered with this thing. The sticks just go under the chair and that's it. It means that i can still do an awful lot, that maybe somebody else might not be able to do because they are reliant on a walker. But i'm not there yet. Hopefully never.

What treatments do you use to manage your condition and do you find them helpful?

I actually don't use anything. You know everybody comes with up solutions, this is going to work for you and that is going to work for you. I have got there and i should be taking it on a regular basis, but i don't. One of these muscle know, that the weight lifters and guys will use. Those drinks. But my tummy doesn't like them very much, so i'll take them for awhile and then... so I haven't stuck to anything. If somebody could say to me, this is definitely going to work for you, then that is absolutely fine. Everybody is sort of hit and miss. I've got a friend who reckons that i should go to natural foods. I've got arthritis as well.

I don't know if i want to think of fad diets. Fad this and fad the next thing. I am a little bit reticent. But i do watch, i won't eat a lot of white bread and i don't bake very often anymore. So i don't have a lot of temptation around. Nothing radical yet, i don't know whether its coming or not.

What do you think of the advances in stem cell research or other new research for MD & would you be interested in becoming involved in a clinical trial?

Yes i would. This stem cell stuff is quiet exciting. I was all sort of really buoyed up about it because in one of the MD magazines they were saying there about this, and not only could they prevent it from progressing but it could also cure. And that was all very exciting for me. But then i was speaking to the guy who runs the MD Research Foundation this year. I decided to make contact and try find out a bit more about it. He then said that about 10 years ago they thought they had found something and he would kind of believe it when he sees it. That was his kind of attitude. Whereas i was more upbeat about it., i was quiet excited about it. They did give me the name of a guy in Pretoria. I haven't been to see him or anything but i must get on it. Because he knows more about what is going on with all this research than i do. His name is Francois Honiball and it's 012 664 3651 (FSHD research).

I went to one of these things, like a green algae thing. You know the way they bring all these different things in. It wasn't particularly for MD. Then you've got somebody else on the other hand saying, yes but cancer, and it could make those grow. I don't know, who am i to know- i have no clue, whose telling me right, whose telling me another thing. I'll wait till the Foundation bring out something and they have okayed it. But a clinical trial, i'd be quiet happy to go on.

Do they have a lot of them in SA?

As far as i know, there is nothing in SA, certainly not for this. But they have in America. This stem cell thing that is going on at the moment, i think the research is in Denmark/Norway, somewhere round there and America.

What is the most important piece of advice you could give someone who has just been diagnosed with MD?

Just don't look on it as, as…well i don't know for me, i can just say that it's my Christianity. I just trust the Lord for each day and thank him for each day. And for the strength to do what i need to do, and keep cheerful. What's the point of getting down about it, there's nothing you can do about it. Just make the best of every day and thank God for it. Hope, Its what's kept me going. There is no ways i'd sort of buckle underneath it. No, no, i mean God is good. And we all have trials and tribulations. Other people's trials and tribulations might be less noticeable- but they are still there- because thats life. Mine just happens to be more noticeable than others.

Is there anything you would like to add, that you feel is important, that will maybe give others some insight into the condition?

Not really, I think it's what i just said. God is a good God and he'll give you the strength to cope with whatever it is. As one of the guys said when i went in to church on sunday, he said "still smiling?" and i said "yes of course". Be cheerful. Keep cheerful.

Muscular Dystrophy Foundation of SA
Tel: 011 789 7634
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