THE BLOG

My Genetic Disorder Is My Superpower

06/09/2016 09:04 | Updated 06 September 2016
VALERIE MACON via Getty Images

Have you ever considered the important part your genes play in making you who you are? A set of instructions, often referred to as 'the blueprints of life', that determine everything about you. Sometimes genes can be missing or mutated causing a genetic disorder. The resulting condition may be hereditary, passed down from the parents' genes or may be caused by new mutations or changes in the genes. Individually, genetic disorders are rare but together they affect one in 25 children born in the UK - that's more than 30,000 babies each year. In my case, faulty genes passed from my parents are responsible for the fact that I have a form of dwarfism know as Spondyloepiphyseal Dysplasia congenita or SED. It's basically a bone growth disorder resulting in skeletal abnormalities but there can also be problems with vision, hearing and other complications. The condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. Congenita indicates that the condition is present from birth. So that's me, a human made using a faulty set of instructions but nonetheless, a human.

People often ask me what it's like to live with a genetic disorder, which is a difficult question to answer because I have no point of reference as to what 'normal' is, what it's like to live without a genetic disorder. I am me, and this is all I've ever known. I could talk about the pain, the surgeries, the complications and the difficulties but that's not my style.

All those things, along with my genes, make me who I am. They determine my personality, my attitude to life, my resilience in the face of adversity. You should never underestimate the importance of embracing who you are, faults and all, always seeing yourself in the best possible light. My positive self-image was instilled in me by my parents who never once spoke negatively about my condition. Whether this was a conscious decision on their part, I don't know but this is so important for a child living with a genetic disorder of any sort as it will set them up for life, enabling them to cope. As a result, I can only see the advantages that my disorder has presented, never the disadvantages. Some may argue that 'it's alright for you - you're a successful actor with an amazing family and career'. True. However, the reason that can be said about me is because I have only ever seen the positive in who I am, I look at my SED as a kind of super-power. With it, I can achieve anything I put my mind to. Now, this does not always transpire because, as we all know, that isn't how life works and sometimes I do fail but not trying in the first place would be a travesty and would fill me with regret.

In writing this, I am very aware that my SED is by no means a severe genetic disorder amongst the 6000 diagnosed conditions, and that there are a great many more that go undiagnosed. Brilliant support groups exist working tirelessly to improve the quality of life for children affected by genetic disorders. Some disorders are so rare that only one case of the condition is known to exist but still you'll find a support group has formed to help. Many of these groups could not continue to function and do the amazing work they do for children affected without the financial support from Genetic Disorders UK. I have witnessed first hand the difference this support makes to an organisation when they helped Little People UK, a charity I co-founded that helps people with dwarfism and their families. In turn, Genetic Disorders UK can only provide grants to charities if they themselves receive support from public generosity. Their main fundraising initiative is the cleverly named 'Jeans for Genes' day. This year, it takes place on 23rd September, and simply asks schools and organisations to wear jeans for the day in return for a donation.

So please get your denim out and encourage your school or workplace to do the same in support of 'Jeans for Genes' day and make a real difference to the life of a child living with a genetic disorder.

For further information on how to get involved with this year's Jeans for Genes Day, please visit jeansforgenes.org

Comments

CONVERSATIONS