Rare Disease Day 2017

28 February 2017

Today is Rare Disease Day, it takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

Alex’s son Jack, and my son Eli, were diagnosed with Duchenne Muscular Dystrophy in 2011. We’d heard vaguely of muscular dystrophy. That it could come in different varieties was new to me. That Duchenne existed was a terrifying shock. That, as your child's muscles grow they will die, that he will lose the ability to walk, talk, that he will become totally paralysed and die -- possibly by his early 20s. It was and is a devastating diagnosis. We had no idea that such a disease existed. To compound the pain of living through with Duchenne, we have to explain what it is on a daily basis, to our friends and families, to strangers on the bus making way for our wheelchair, to potential donors for our charity Duchenne UK, to drug companies whose help we badly need.

On top of the pain and distress of having a sick child, those of us dealing with little known diseases also have to cope with the confusion and incomprehension around unusual illnesses. As well as trying to sooth and comfort a distressed child, we have to educate ourselves in medical language and biological vocabulary previously alien to us.

Living with a rare disease can be a lonely place for many people. We are lucky. We have found a rare and unique breed of people who live with our rare disease -- the Duchenne community. Out of our despair we have banded together to take it on. To end it once and for all. That's why we set up Duchenne UK. We don't believe in miracles, we believe in the life changing power of science and medical research. And in the power of groups like ours to move mountains. Our mission is to fund and accelerate research: we are now funding twenty-three research projects for Duchenne – ranging from pre-clinical, to clinical trials, and looking at ways to accelerate the drug development pipeline.

With the help of our supporters we will do more. This is just the start of a truly amazing journey, rare and challenging, but inspiring and filled with hope and love.

We have made a short film to update you on what we have been working on. In keeping with the theme of Rare Disease Day, we discuss how patient groups support research.

Please share our video to raise awareness for Duchenne UK, Duchenne Muscular Dystrophy and Rare Disease Day.

Published on 28 February 2017

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