Shane’s Christmas wish is to find a cure for FSHD so that his grandchildren never have to live with this insidious disease

This is Shane’s Story…..

My name is Shane and this is my story. I have just turned 51 years old and I have FSHD.

I was first diagnosed when I was 8 years old with a painful muscle biopsy at the old Royal Newcastle Hospital, I didn’t know what was happening and no one told me what I had, my parents had taken me because I have a long family history of this terrible condition and they wanted me to be tested.

As an eight year old I was a lot skinnier than the other kids and my shoulder blade wings had started to stick out, at that early stage my legs still worked. I was able to have a normal childhood, running, playing sports and even started boxing. It wasn’t until puberty kicked in that things really started to happen, shoulder aches, muscle weakness and the winging of my shoulder blades became more prominent. As a young teenager I became more and more self-conscious about my appearance and tried to hide it away, I would never wear just a t-shirt or no shirt at all. Imagine the embarrassment of being made to participate in the school swimming carnival, standing on the blocks with the other teens pointing and laughing at your appearance.
During my late teens I went through the “Ï hate the world” stage because I didn’t look like anyone else, I rebelled against everything due to anger at this horrible condition, there was no internet to look up information, there were no doctors to talk to, there was nowhere to turn, it was at this time that the girl who would become my wife entered my world, she didn’t care how I looked she loved me for me. We have been together now for 34 years and married for 27. We have 2 beautiful girls who have grown into amazing young ladies, they have not been tested but we hope they not been affected.

My mother and Grandmother explained to me that I had FSHD but no one really knew what was going to happen in the future. I knew my Aunty was in a wheelchair by age 40 and my Grandmother was in one by age 60. Both of my parents passed away when I was aged 25, my aunty shortly after, so there was no one except my grandmother who I could speak to about what was happening and even then she did not know much about FSHD just that she had it and it was in the family.

I still work fulltime at a small family company that knows what I am facing and helps where they can with compassion and understanding. Over the last 5 years there has been a rapid decline in my health and mobility. I am now in constant excruciating pain for which I take very high doses of prescription only medication. I can only walk short distances and this is achieved by using a stick, anything more than 20 metres I require a wheelchair to get around. When I do walk I am in constant fear of falling over, because if this happens I cannot get back up unaided. I can no longer bend down to pick things up from the ground, I can no longer lift anything, I can’t even help lift the groceries from the boot of the car or help with chores around the house.
I do not know how much longer I will be able to work as the pain is getting too much, what happens then? I will be stuck at home no longer able to help provide for my family, I can’t get income protection insurance because I have a pre-existing condition. I will be totally dependent on my family for everything, this is not something that sits very well with me. I worry every day how we will pay the mortgage and still be able to live but that’s life I guess, sometimes you get oranges sometimes you get lemons.

We live in an exciting time in regards to finding a cure and providing people who are only now being diagnosed with the information they need to give them an understanding of what is happening to them. My one wish is that a cure can be find so my grandchildren never have to go through this insidious disease so please donate to FSH Global so a cure can be found in the next few years.