Daniel lives in Brighton and is just like any other boisterous little boy. He is very active and loves swimming, rugby and is absolutely mad about football. Last year, Daniel was diagnosed with a very rare disease called Alkaptonuria also known as Black Bone Disease. It is a genetic disease caused by a build-up of acid in the body which attacks bones and other tissue, turning it black and brittle over time. This leads to early-onset osteoarthritis resulting in joint replacements, heart disease and other complications.
Black Bone Disease is incredibly rare, with less than 100 people diagnosed in the UK and approximately 1000 cases diagnosed worldwide.
Luckily, the leading research team are based here in the UK and they are striving to find a cure, with a clinical trial already underway.
The initial results of the trial are very promising and once licensed, this drug could prevent all of the debilitating effects of Black Bone Disease. There is however, one missing piece to the puzzle and that is to determine the correct age to start taking this drug to prevent the damage caused by this horrible disease.
At the moment, Daniel is a very healthy and happy four year old but invisible damage may have already started. To know that he was getting the right treatment at the right time would mean the world to us. Daniel’s Mum
So we are asking for help to fund a study to assess when the damage actually starts. A crowdfunding campaign has been set up to raise $30,000 to help fund the study and the link is below.
How you can help
You can donate to help reach the target of $30,000 – deadline 1st April
Daniel’s parents would also appreciate it if you could share this with your friends and family and on Facebook.