Nick Sireau quit his job 3 years ago to find a cure for his sons ultra rear genetic disease...he accomplished his goal!

A dad who quit his job three years ago to find a cure for a rare genetic disease that affects BOTH his sons has discovered a treatment for it.

Nick Sireau, 40, was shocked to discover his boys Julien and Daniel had alkaptonuria – also called black bone disease – which affects just one in 500,000 people.

In 1901 it became the first genetic disease ever identified, yet until now had no cure.

The degenerative condition, known as AKU, killed five people last year.

It weakens bones and turns them black, causes severe pain and can trigger heart disease, kidney infection and osteoarthritis.

In desperation Mr Sireau left his job as a charity boss in 2010 to work full-time on seeking a cure, teaming up with UK and US scientists.

And now, after his long and painstaking research, he told the Mirror: “We’ve found an amazing treatment, a drug called nitisinone. If given early enough in life to sufferers, it’s effectively a cure.”

Early tests show that the drug, already used to treat another genetic disease, can prevent a wide range of symptoms in AKU sufferers.

And Mr Sireau’s patient research group the 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.

Anxious wait: Nick Sireau and wife Sonya

Ian Vogler

The results cannot come soon enough for Mr Sireau, wife Sonya and their sons. Both Julien, now 12, and Daniel, 10, are now producing black ear wax and urine.

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 25% chance of developing it.

Mr Sireau, of Cambridge, recalls: “Soon after Julien was born we were alarmed to see this red-black colour in his nappy. After a series of blood tests we were told he had this ultra-rare genetic disease.”

Daniel was also diagnosed with AKU shortly after he was born. Mr Sireau 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.

Only 60 people in Britain and 1,000 worldwide have AKU – among them Ann Kerrigan, of Bristol, who has been forced to have several operations because of it.

“Donations to this cause are essential,” she said. “If we can’t bring patients to the trials we can’t hope to secure treatment.”