Friday, 29 August 2014

Family Friday - Getting a Little Bit Personal

Up until now there's a part of my life I've chosen not to share here on my blog. It wasn't so much a conscious choice, more that it just hadn't come up as topic but its been on my mind lately so now seemed a good time to broach the subject.

My 9 year old son has Duchenne Muscular Dystrophy.

That statement probably had one of two effects on you, either you've heard of Duchenne before so your face has fallen and you're feeling sad for me, or you have no idea what I'm on about and you're confused.

For the sake of those who don't know, or those of you who know a little but not the full story, here it is... But I warn you now its going to be full and frank, we're not hiding things around here. The truth is a difficult thing to accept sometimes but it remains the truth.

Duchenne Muscular Dystrophy is a genetic disease. It means that the body of sufferers does not produce a protein called dystrophin, which is vital for the production and repair of muscles. Whenever you exercise your muscles the fibres break down and dystrophin rebuilds the muscles (stronger than they were before).

Because Duchenne sufferers do not produce dystrophin, their muscles do not repair themselves like ours. The muscle instead tries to repair itself by forming scar tissue. This fills the muscle and makes it inflexible and weak.

This means that Duchenne sufferers' muscles waste away. This affects every single muscle in the body.

Most boys with Duchenne (it generally affects only boys as it is an X-linked disease - I won't go into the genetics here, its too complex but feel free to look it up), will lose the ability to walk by the age of 8 to 11. Eventually, as it is also a muscle, the boys hearts fail meaning most boys with it do not live much past 20. Until recent years, it was unheard of for boys to live past their teens. Some boys suffer heart issues and die from this dreadful disease as young as 10.

There is no cure and treatments are limited.

My son was diagnosed at the age of 4, just 3 months after he started school. It was his reception teacher who first said something was not right. I was not the most co-ordinated child so we had always put his clumsiness down to being my child and no one else had ever really noticed any issue. We were more fortunate than many families (in an odd sort of way) because the Doctors we saw had seen Duchenne before and knew the signs. I've heard of many families though being shrugged off and told their children are fine and having to fight very hard before the proper investigations are made.

Since then its been 6-monthly reviews with a Paediatric Neurologist, genetic testing to see if I carry the disease, physiotherapy, bone density scans, annual heart scans, occupational therapists home and school assessments, and who knows what else.

Its a horrendous thing being told that you will almost certainly outlive your child. Its not what you expect when you bring a child into the world. To know that he will probably never drive a car, get married or have children of his own is the worst feeling.

So many people seem to focus on losing the ability to walk, which is horrible in itself but for me its more than that - one day he will lose the ability to swallow and will need to be tube-fed, he won't be able to hug us back or even lift a pencil, he will be on a ventilator because his muscles are so weak he can no longer breathe for himself.

Right now I can only imagine how awful its going to be and I try as much as possible to live in the moment because sitting around crying about it is not going to help. I put a smile on my face and I enjoy the time we have got with him because I don't know how long that will be. We do think about the future, we have to plan for it if nothing else but I don't want to dwell on it or allow it to affect his enjoyment of his childhood. He's a kid and as much as possible I want him to do the same things all his friends do.

After he was diagnosed we quite quickly decided to put our energies in to fundraising and the charity of our choice was the Muscular Dystrophy Campaign. They cover all forms of muscular dystrophy and help to fund research into better treatments (or maybe even a cure), support families through diagnosis and beyond, provide advocacy services to families or individuals to help get the care they need and also give grants for equipment that the NHS would not fund. So far my husband has taken part in a golf challenge - doing a full round of golf on 4 different course in one day (he was in agony!), we had a fundraising ball, a sponsored waxing of various male friends, I ran a 10km race, and we've roped family and friends into doing other events. So far I think our total comes in at over £15,000 raised. Which is a good start but there's so much more we want to do.

We have now set up our own family fund with the Muscular Dystrophy Campaign and we've decided we want any money we raised to be split 50/50 between their Duchenne Research Breakthrough Fund and the whole charity's work. Its a nice way to feel more a part of the charity and have a say over where the money we raise goes.

So there you have it, that's our story. If nothing else, I hope this post helps a few more people understand what Duchenne Muscular Dystrophy is because its not very well known and the more people know of it then perhaps the more money we can raise to fund research. At the moment that's all the hope we have but it's hope nonetheless.

(PS I have created a little flipagram to promote our family fund but I've had so much trouble with spammers and weirdos lately that I've taken it off this post. If any of my 'proper' readers would like to see it, please get in touch here or on Twitter. It contains photos of my kids so I'm just not comfortable with it being here with all the stuff I've had come through the blog on comments lately!)

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