THE BLOG

My Life With a Genetic Disorder

13/08/2015 17:41 BST | Updated 13/08/2016 10:59 BST

Work hard and play hard is the motto I have tried to give myself to get the best out of life. I like to think that I take every opportunity that I can to experience life, just as any other 18-year-old would do. I want to have a go at all that I am able to, whether that be simply going out with friends, through to skiing and to planning and organising a fundraising expedition over four days. I've just finished my first year at Durham University and have had an incredible time. Living 200 miles away from home was quite a challenge but one I have embraced and I can't wait to go back. Doesn't sound that different from any other 18-year-old, does it? Well, the only difference is, I have a genetic condition called Spinal Muscular Atrophy which basically means I have exceptionally weak muscles all over, so I can't walk, am totally dependent on an electric wheelchair and need 24 hour care support to live independently, but I don't want to be seen as anyone special and I'm certainly not looking for sympathy.

I've always wanted to do 'normal' things and join in with whatever my friends were doing. Consequently, I never thought twice about doing my Bronze, Silver and Gold Duke of Edinburgh Awards. I knew it would be a challenge but it was one I wanted to do. The expedition, in particular, was the toughest as not only did I have to trek some of England's less accessible terrain, but I had to find the routes in the first place (no mean feat) and organise accessible accommodation. Admittedly, it took a lot more planning than those who didn't need to consider accessibility, but it was worth it as I have taken so many skills away from the expedition, as well as the volunteering at our local hospice. I can definitely say I am looking forward to receiving my invitation to the palace to receive the Award!

Over the years I've watched so many people raise money for charity that I couldn't help but think that there was no reason why I couldn't do the same. I wanted to show people that having a disability doesn't have to define or limit what you can or can't do. The SMA Trust is the only charity purely dedicated to funding research into finding a cure for my genetic condition and I wanted to join their Momentum Challenge, with the aim of inspiring others to take up challenges themselves. If I can, then they can too! With my family supporting me, I crossed 80 miles of the Lake District in 4 days, navigating some of the toughest terrain for an electric wheelchair. It was bloody tough and my body ached as I tried to maintain my balance for long periods of time. But I did it and raised £40,000 for charity in the process. Through this I was nominated for the Radio One Teen Hero Awards and was a finalist out of thousands of nominations.

As I said, I'm now at university reading Law and am having the time of my life (the work isn't so fun but the social life is brilliant). I have a team of PAs who help me out with all those 'normal' tasks that you probably do without thinking like cooking, washing, getting out of bed...the list goes on. But with them and an amazing bunch of friends I can lead a normal life and at no point has my disability stopped me from fully submerging myself into independent life. When I am at home I attend the NeuroMuscular Centre where I receive regular physio and hydrotherapy. This is an incredible place as this is the only centre which can offer me the full support to maintain what little muscle power and movement I have.

I do sometimes wonder what life would be like without my genetic condition - I have three younger siblings who are all carriers of the 'dodgy' gene but are not affected, I carry two of those genes. Our family never had any idea that this condition ran in the family and yet one in 40 of us carry this gene and SMA is the largest genetic killer of babies. Of course I'm not saying that I wouldn't jump at the chance to be able to walk, but I have been brought up in a family who has always encouraged me to get involved and have a go. Maybe I am one of the lucky ones.

This September I'll be gearing myself up for more fundraising in support of Jeans for Genes Day on Friday 18 September. Jeans for Genes Day raises money for Genetic Disorders UK, and the funds raised go towards the vital support and care people with genetic disorders need. Just by donning a pair of jeans and making a donation, you too can make a difference.

Jeans for Genes Day is on Friday 18th September and everyone is invited to wear their jeans to work or school in return for a donation. Sign up for your free fundraising pack at www.jeansforgenesday.org. I'll be doing my bit. Will you