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My Disability


Originally I was hoping to have a link to an official fact sheet, but my disability is a little complicated so I guess I'll explain it the best I can in the simplest terms. If you have any questions that I haven't covered, feel free to ask in the comments below!

Background To My Diagnosis

I was initially diagnosed at three and a half back in 1993 after my mum had a bit of a battle with doctors to convince them that there was actually something wrong with me. I was diagnosed with Congenital Muscular Dystrophy after a muscle biopsy. CMD is an umbrella term for a group of muscle diseases that share an early presentation. Congenital means from birth as the majority of cases show initial symptoms at birth or in the first few months. There's a longer story about how a lot of the information my parents were given was incorrect, but I'm going to skip that and fast forward twenty one years to the present day. In the last couple of years there has been a lot of advances in research and there's now a better understanding of the group of conditions and they have found different subtypes and different genes responsible etc. They began testing me to see if they could figure out what subtype I had. Finally on 28/08/14 I got my diagnosis. Or at least their diagnosis to the best of their knowledge as my doctor doesn't like to give any absolutes. Anyway, I have a Collagen VI Myopathy. You can read about the day I was diagnosed here.

Collagen VI Myopathy

Basically what this means is that I have a faulty COL6A2 gene, which is a collagen gene. Rather than my muscles themselves being faulty, it's the collagen within them that is faulty and causes them not to work properly. Myopathy just means muscle disease. It is thought to be autosomal dominant, meaning the gene was passed to me by only one of my parents. As there's no history of it in our family there's no way to know which it was. It could have been just one faulty egg my mum had that just happened to be me. Because I have it there a 50% my children would have it. They would either get my faulty gene or their father's healthy gene.

Collagen VI Myopathy is a spectrum with Bethlem Myopathy at the least severe end and Ullrich Congenital Muscular Dystrophy at the most. I wasn't told I had either of those, so I guess I just fall somewhere in between. At the moment there is no cure or treatment for the disease. Now I'll explain problems I've personally encountered due to the disease.

Muscle Wasting & Contractures

Probably the most obvious one is muscle wasting. It's a progressive disease and as I've gotten older my muscles have gotten weaker. Although I have always used a wheelchair and got my first electric wheelchair when I was five because I tired easily, I could walk up until I was ten. The doctor who diagnosed me said I should be pretty stable now. My condition also causes things called contractures, which is a shortening of the muscle and joints. This means I cannot straighten most of my joints and gives me a limited range of movement. Contractures also have an impact on strength. For example if I were to have an operation to straighten my arms, I might not be strong enough to use them with their new range of movement. Growth spurts during puberty and weight gain can have a similar affect. One thing I always get asked is if I can feel everywhere, as people automatically assume if you're in a wheelchair you're paralysed. But yes, I can indeed feel everywhere.

Scoliosis

When I was eight or so my mum noticed my spine had started to curve into an S shape one day when I was standing in the shower. Very rapidly my curve became severe and eventually became life threatening. At ten I had an operation to fit rods to stop it getting worse. They had hoped to correct the curve, but found my spine had somewhat fused and weren't able to correct it as much as they'd hoped. It was after this operation I stopped walking.

Sleep Apnoea 

When I was twelve my mum noticed I was have pauses in my breathing during the night. I'd also become very lethargic and started having to leave class as I was struggling to stay awake. I was diagnosed with Sleep Apnoea and admitted to hospital for sleep studies. At this time my parents were told I had eighteen months to live, which was obviously very wrong! Since then I have used a machine at night called a BiPAP. It keeps me breathing consistently throughout the night and makes sure I don't have have carbon dioxide build up as my problem isn't getting enough oxygen, but retaining carbon dioxide. I've only had the levels at which my machine is set adjusted once since I started using it. I also find it hard to breathe lying down for extended periods of time, so I also wear it then.

Stomach & Appetite Issues

After my back surgery and being tube fed for a time, I experienced a lot of stomach issues. I lost a lot of weight after and became very unwell. Ever since then I've had problems with acid reflux and lack of appetite. Many people with muscle wasting diseases have trouble maintaining and gaining weight. I'm personally working on maintaining my weight and some day reaching 5 stone (70lbs). I can't put on too much weight or there's a danger it would put a strain on my muscles.

Arthritis

I began having hip pain in my teens, but I was diagnosed with a 'jagged hip' as a new born. My parents never really thought more about it until I started having pain, and that's when another doctor X-rayed and diagnosed me with arthritis in my hip. Initially they thought I might have to have it operated on. Possibly a hip replacement or else a hip fusion. However, my hip contractures did a little good as my hip basically fused itself. I still have a range of movement, but not so much I get much pain from my arthritis. So silver linings and all that.

Skin Issues

The fault in my collagen also affects my skin. It's very thin and sensitive, a doctor described it like tissue paper. It doesn't scar well and I've had problems with minor keloid scarring.

Circulation

My legs have bad circulation due to my contractures and lack of movement, causing my legs and particularly my feet to be very cold and have difficulty retaining heat. This causes me to get chilblains quite a bit.

Heart Rate

A harmless feature of my muscular dystrophy is I usually have a resting heart rate of over 100. It's usually around 100 to 110, but at times will be 130. This is due to my heart having to work a little harder, especially in relation to my breathing. Despite it being normal for me and the fact my condition shouldn't affect my heart, I still have annual ECG to keep an eye on everything.

Updated 07/11/2014

7 comments:

  1. Thank you so much for posting & sharing your experiences. I've been searching for a more simpler way to explain my condition to others w/o sounding like a doctor or geneticist. I'm 46 yrs young & I was diagnosed w/ Muscular Dystrophy on 10/29/13. The doctors thought I had Limb Girdle Muscular Dystrophy but after doing genetic testing it's been proven I have Bethlem Myopathy Collagen IV A1. The faulty gene that you speak of was past down from my mom (mum). My oldest son has inherited the faulty gene as well as my sister & my youngest niese. Thanks again for shedding light on such a complex topic.

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    1. Thank you for your comment. It's nice to hear someone found this post helpful. It can be difficult knowing how to explain it and I know myself that I sometimes find it all difficult to understand when other's talk about it.You're the first person I've 'talked' to that has been diagnosed with the same form as me. I have a couple of friends that fall under the 'CMD bracket' but they are yet to be fully diagnosed. Though MD is one of those diseases where even people with the same form can be affected very differently. That's why I wrote this post myself. Thanks again for your comment! :)

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  2. Finally I found somebody with the same condition as me. My name is Sean, I was diagnosed when I was 14 with Bethlem Myopathy (I'm 23 now). There is only 1 other person in Ireland that I know of that has the same condition, its so nice to finally find someone :)

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    1. Hey there! I don't know anybody else either. So it's great to 'meet' you! :D

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  3. This was really interesting, I didn't realise MD was so diverse. Thank you for sharing! All the best !!

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  4. I was surprised to read you have a Harrington rod, as I thought they'd stopped using them a while ago. I have one for my wonky spine, although mine is a kypho-scoliosis due to Neurofibromatosis.

    It's caused quite a lot of issues meaning I now use a wheelchair too (or scooter if I'm not getting on a bus). I think I might need to upgrade to an electric wheelchair though at some point, something I'm not looking forward to as I don't like admitting defeat!

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    1. Hrm, well to be honest it was my dad that always called them Harrington rods. I had my rods put in 16 years ago when I was 10 so I could be wrong about what type they are. All I know is I have two rods with screws. Maybe I'll switch out the Harrington bit in case my dad gave me the wrong info. :)

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