Story
Alkaptonuria is a rare, disabling genetic condition, also known as AKU or Black Bone disease, which affects one in half a million people. It is a recessive condition caused by a defect on chromosome 3; this defect prevents the breakdown of a toxic substance called homogentisic acid. Throughout life this acid eats away at cartilage, bone and tissue causing it to become black and brittle, causing severe early onset arthritis.
My dad suffers from AKU, and has already had to undergo three joint replacements at the age of 50(ish), having both his shoulders and his knee replaced. My dad has been fortunate enough to be involved in a clinical trial which is working a drug that can slow down the rate at which this disease progresses, and help prevent the condition worsening. The combination of this drug, and the treatment and support provided from the AKU society has helped improve his quality of life massively. As a result of this I would like to enable others suffering from this condition to receive the same support and treatment my dad received. Any money raised will help fund the AKU society future research and the provision of ongoing caret for those suffering from AKU.
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