Rare Disease Day

February 26, 2021 10:22 am

Rare Disease Day takes place on the last day of February each year with an objective to raise awareness about rare conditions and the impact they have on people’s lives. 

Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed.

We would like to put the spot light on Duchenne Muscular Dystrophy, a genetic muscle wasting condition which affects 1 in every 3,500 boys born.  The condition results in the lack of a protein called ‘dystrophin’ responsible for building muscle tissues. In majority of cases, it affects boys as it is an X chromosome abnormality. Girls can carry the faulty gene but, in most cases, they are not affected themselves as they have another unaffected X chromosome, but they can pass the gene onto their unborn child.

In the UK, every single week, two families will receive a diagnosis that their child has Duchenne and it is absolutely devastating news. Duchenne is a life-limiting condition, although those affected are living longer, into their 30’s and 40’s in some cases, due to medical advances and a greater understanding about how the condition is best managed.

However, not all children will live this long. There is no known cure and very little treatments available to help delay the onset of muscle wasting. Duchenne also affects the heart and respiratory system, which leads to heart and breathing complications.  The condition affects everyday living with the need to take regular medications, use specialist equipment to enable them to lead relatively normal lives and families deal with worry and anxiety as the condition is always progressing. Not knowing when your child will be off their feet. Not knowing whether the condition will take their life away too soon.

Our Alex, who is now 14 years old, has taken part in two clinical trials. The first one ran by Pfizer didn’t show any promise and was stopped. So Alex joined another trial and is taking part in a Givinostat clinical trial run by Italfarmaco* and results this week suggest a potential long-term beneficial effect of Givinostat in boys living with Duchenne. And we are looking forward to the final results and remain hopeful that these results can support the registration of Givinostat for the treatment of Duchenne in future years. When trials like this prove to be showing great promise it gives a family like ours a renewed sense of optimism that treatments are coming soon.

We are incredibly proud of Alex and his dedication to taking part in trials, which takes up a lot of time and having to take a medicine which tastes horrible twice every day. He knows, as much as we do, that unless these trials happen we have no chance of curing this condition. All the pitfalls are worth every single moment and we would encourage anyone living with a rare condition to find out what trials are taking place and to enrol where it’s appropriate to them. 

We are also delighted to see this week’s news that the first gene therapy trial for Duchenne in the UK will be starting shortly! This is ground-breaking news for the Duchenne community and a welcome addition to the range of Duchenne research and clinical trials that UK families can choose to take part in. Although the trials will start by recruiting small numbers of people, we hope that there will be more and more opportunities to take part in gene therapy trials in UK in the coming years.

We have to keep strong, keep fighting and never give up, no one knows what’s around the corner, and for now we strive to dedicate our time to continue with our fundraising. There will be a day when Duchenne is no more.

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