Lucy Atkinson - How I feel About Marfan Syndrome...
I said last time that I wanted to discuss Marfan syndrome in my next blog so I should start by explaining what that actually is. Marfan syndrome is a rare connective tissue disease that only effects 1 in every 5,000 people. In most cases, it's passed on through inheritance, meaning it runs in the family, but a very small number of people have got it spontaneously, this is called a spontaneous mutation & means there's no family link, strangely, I happen to be in that category and I was diagnosed after suffering many health problems throughout my childhood. at the age of 13 I developed scoliosis (a curved spine) and needed major surgery to correct it, which then led to further investigations & that's how my Marfan diagnosis was discovered, although it wasn't quite as quick & easy as that, it took the doctors a few years to finally put a name to all my troubles. Marfan syndrome had a lot to answer for!
Being told as a teenage that I had a rare & serious syndrome that only affects a small number of people was hard news to take, I realise now that I dealt with it badly at the time by refusing to talk about it. I didn't want anyone to know & that was because I thought it was easier to ignore that way. I pretended I wasn't bothered by the news but secretly I was kept awake at night by the doctors words. I clearly remember sitting in the doctors room with my Mum as she explained what the syndrome meant, she told me it was life threatening & said I'd need to go for all sorts of other tests, as if I'd not already had enough after all the examinations before my surgery! I left the clinic that day feeling abnormal for having yet another illness that no one else could relate to. I felt angry & shocked, angry at life for singling me out once again, and shocked that all my problems where the result of something so serious.
As the years have passed I've accepted what's wrong with me & I deal with it better now, partly due to the fact that I speak to other Marfan's online who are in very similar circumstances, and partly due to the fact that everything became harder to ignore when my symptoms worsened.My mobility has deteriorated quite a bit lately & I can't walk far without needing to stop due to aches/pains & tiredness. This is because my joints/muscles are weaker than normal so my body gets tired easily. I suffer with widespread pain everyday though weather I am walking or not. Then there's the problems with my back caused by loose & protruding screws but I'll save that for another time.
My family are very supportive & understanding but I don't think they know that I often feel isolated, it's hard not to feel like a small fish in a very big pond when nobody around you can relate to your unusual health problems. A few people might know the names of my illnesses such as Marfan syndrome/Hypermobility, but hardly any of them actually know what that means, which makes it harder to talk about if I ever want to. The photo I've added is a card that I carry around with me now, just in case I'm ever in a position where I need to explain my health troubles. It sums things up perfectly.