A TEENAGER who almost died as a baby due to a rare disorder which affects only a handful of people in Britain every year has described how a crucial test helped save his life.
William Staniforth, 19, of High Green, Sheffield, was speaking ahead of Rare Disease Day about how he was left fighting for his life, unable to breathe, after he collapsed when he was five months old.
Special tests at the Children’s Hospital, Sheffield, showed he had an unusual metabolic disorder, LCHAD deficiency, and needed a special fat-free diet.
Mr Staniforth said: “It’s strange to hear mum and dad talk about how I nearly didn’t make it when I was a baby.
“Now I play bass in a band and I’m about to start university and become a youth worker – it’s great that the Children’s Hospital is looking to screen for even more rare disorders. It’s really important for people like me.”
He said his condition only affects around six people a year in the UK.
“It’s so important for others to know about problems like mine,” said Mr Staniforth. “I’m so glad I had those tests at the Children’s Hospital because now I know what I need to do to stay healthy.”
His mother Susan, 47, said: “Will couldn’t hold his head up, his face grew chubby and he was projectile vomiting.
“He gradually stopped developing like normal babies and then one day, (his father) John couldn’t wake him up and his body was all floppy.
“We rushed him to the Children’s Hospital, where the staff were fantastic and within 72 hours tests showed William had LCHAD deficiency.
“He was kept in an incubator and couldn’t breathe on his own. We were so worried he wouldn’t pull through. It was like a bad dream.”
LCHAD deficiency prevents the body from breaking down stored fats for energy due to low levels of a particular enzyme.
It made Mr Staniforth’s heart muscle grow until there was no space for it to pump. He spent three months in intensive care receiving specialist treatments.
The Children’s Hospital said one in 17 people in Britain are affected by a rare disease.
It currently tests all newborn babies for five diseases and is hoping to start a two-year project to screen week-old babies for five more conditions.
The director of the laboratory service at Sheffield Children’s NHS Foundation Trust, Jim Bonham, analysed Mr Staniforth’s test results 19 years ago and is set to run the new trial.
He said: “With the study we’re about to start, all babies in the north of England will be tested a few days after birth to ensure that none are missed and that treatment can begin at an early stage.
“William is evidence that the right test at the right time can make a dramatic difference to a child’s life.”
Rare Disease Day is today.