Our son, Daniel was first diagnosed with AKU when he was three years old. We knew there wasn’t something quite right from the day he was born as his nappies were always stained dark red. After many visits to his GP and the hospital, he was finally diagnosed with Alkaptonuria in 2013.
To be told that your child has an incredibly rare and incurable disease is absolutely heart-breaking and terrifying in equal measure. We had already read up a little on AKU and so when the diagnosis was confirmed, we were devastated.
After coming to terms with the news, the research began. Alkaptonuria (AKU) also known as Black Bone Disease, is a genetic condition which causes severe early-onset osteoarthritis. It is caused by a build-up of acid in the body which attacks bones, cartilage and other tissue, turning it black and brittle. Along with a host of other health issues, if left untreated, can lead to a lifetime of discomfort and pain. People have described the pain as feeling like their bones are wrapped in barbed wire.
Hope came when we found the AKU Society, and we were told about the research that was already underway and a four year clinical trial for nitisinone – a drug that could stop the disease in its tracks.
We were soon introduced to the team at the AKU Society and other parents that have children with AKU. To know that we were not alone in this was an enormous relief.
Since our son’s diagnosis seven years ago, we have been involved in lots of fundraising for the charity as I could see how much support was being provided to those with the disease and the incredible work that was being carried out. I knew I needed to help in any way I could, especially when it came to research around children. So, to be asked to present the BBC Radio 4 charity appeal for the AKU Society was an absolute privilege.
We are raising vital funds so that AKU Society can launch the first-ever paediatric study into AKU. Now that nitisinone is available it is of paramount importance that we discover at what age treatment should start. Previous studies have shown that some young adults with the disease are already showing signs of damage. This study could provide so many answers and prevent any child diagnosed with AKU in the future from ever experiencing any of the symptoms of this awful disease.
So, please tune into BBC Radio 4 and listen to our story on Sunday 2nd May at 7.54am and repeated at 9.25pm on the same day. The appeal will run again on Thursday 6th May at 3.27pm.
This study could change Daniel’s future and children just like him all around the world. Please tune in and donate what you can – it will change lives.