So when you are diagnosed with Muscular Dystrophy you are told that "it is a muscles wasting condition with no cure" and it is a double whammy when you are told you have a form of it called Nemaline Myopathy which only 50 people, out of around 65 Million in the UK, have. Oh and I have Arthrogryposis on top which means I was born with no hips, feet bent up to my shins and I think I have had constructive surgery every year of my life (the longest being 11 hours). So it has been eventful to say the least.
So what happens when you find out that there has been funding put into research to help find a treatment to slow down, and potentially stop, muscular atrophy (weakness) for the 50 people like me in the UK and the others likes us around the world? Well it's a bit confusing to be honest. When since the age of 4 you have been raised knowing that as you got older you would get weaker and then you are told that there is a chance that could be stopped. Wow. It's hard not to feel like their is hope. Now I have excepted my condition 110% but I would be lying if I said I didn't like the idea of being able to stay stable and not slowly loose the ability to do things.
So Great Ormond Street have told me I am unique and they can't work out what is going on with my body. But I wonder if the Professor Coen Ottenheijm and Co. can work it out and use it to their advantage? Well I sent him an email to find out. So let's wait and see what he says ...
But in the mean time, here's all the nitty gritty of it for you to read: http://www.musculardystrophyuk.org/grants/putting-the-brakes-on-muscle-atrophy-in-nebulin-based-nemaline-myopathy/