Photo of Jess Barnes and Daniel on the beach
Thank you so much for your generous and kind donation. Your support means that we are one step closer to finding the right treatment for our little boy and children just like him. Knowing when treatment should start is vital and this research could change the lives of so many around the world. From my family to yours, we are eternally grateful. Thank you.β
Alkaptonuria is a devastating disease. Children born with the disease face a future of excruciating pain, fear and uncertainty. Now, thanks to the humbling generosity of the ΒιΆΉΤΌΕΔ Radio 4 listeners and to everyone who donated, this future is beginning to look quite different.
We would like to say a massive thank you to those who donated to our appeal. Including Gift aid, we raised a staggering £28,188. A game changing amount of money that will help us fund a new paediatric research study called SOFIA-Paediatric. The study is designed to help us finally understand when the damage done by the disease starts in children, so we know when to begin a treatment that will stop children worldwide growing up with the devastating symptoms of the disease.
Alkaptonuria (AKU), also known as ‘black bone disease’, is a rare disease that causes a build-up of toxic acid in the body that damages patients’ bones and cartilage, turning them black and brittle. This leads to a variety of life-changing disabilities.
10-year-old Daniel has AKU and is one of the children we hope to help. His mother Jess Barnes presented our Radio 4 appeal, telling her moving story about dealing with her son’s diagnosis and how our upcoming children’s study will help her son and many other children with AKU get treated for this debilitating disease.
Thanks to the donations from this appeal, we are now able help children like Daniel get the treatment they deserve.
You can find out more about The Alkaptonuria Society and our work .
Listen again
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The Alkaptonuria Society Jess Barnes presents the Radio 4 Appeal, 2 May 2021