In an incredible act of love and determination, a dad quit his job to try to find a cure for a life-threatening disease that affects both his sons.
And three years on, Nick Sireau's grit has paid off – for he has discovered a treatment for the condition that affects just one in 500,000 people.
Nick's sons, Julien, 12, and 10-year-old Daniel have alkaptonuria (AKU) – also called black bone disease – which killed five people last year.
It weakens bones and turns them black, causes severe pain and can trigger heart disease, kidney infection and osteoarthritis.
AKU is caused by a mutated gene passed on by both parents. Those with one copy of the gene are carriers and do not develop the disease but risk passing it to their children.
If both parents are carriers, their child has a 2520Blog&gclid=CPq7l-C5-rkCFZMQtAodRgYASg" target="_blank">AKU Society, of which he is chairman and chief executive, has won a £5million European Commission grant to fund clinical trials.
They begin this December at Royal Liverpool University Hospital and two research centres on the continent.
The results cannot come soon enough for NIck, wife Sonya and their sons. Both Julien and Daniel are now producing black ear wax and urine.
Nick is now trying to raise funds to help up to 140 sufferers travel to the five-year clinical trials, as the EC grant does not cover transports costs. He hopes the Cure Black Bone Disease campaign on the crowd-funding website Indiegogo will bring in £60,000.
"The more patients involved in the trials, the more effective the trials will be," he said.
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