Nick Sireau Finds Cure for His Sons’ Rare Genetic Disease


Three years ago, a man left his job with the quest of discovering a cure for a disease that affects both of his children. It appears his efforts were well worth it, as a treatment has been found.

Nick Sireau's sons, 12-year-old Julien and 10-year-old Daniel, suffer from alkaptonuria, a genetic disorder affecting just one in 500,000 people, according to The Telegraph.

Sireau, from Britain, left his job as a charity boss in 2010, and teamed up with scientists at home and in the United States to find a cure, Ninemsn reported.

Collectively, they discovered the nitisinone was a "very, very effective treatment."

Sireau’s effort to find a cure wasn’t going to be deterred by what others said.

"They said there is no treatment and we should basically go home and try not to think about it... but we went home and thought 'we need to do something about this,'" Sireau told BBC Radio.

The degenerative condition, known as AKU, weakens bones and turns them black, causes severe pain and can trigger heart disease, infection and osteoarthritis. It reportedly killed five people last year.

"We've found an amazing treatment," Sireau said. "If given early enough in life to sufferers, it's effectively a cure."

The AKU Society, Sireau's patient research group, has been given a five million pound European Commission grant to fund clinical trials, which are slated to start later this year.

Sources: Ninemsn, BBC News, The Telegraph


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