A TEENAGER who almost died as a baby from a rare disease affecting just six people a year today backed a new screening programme at Sheffield’s Children’s Hospital to check for unusual conditions.
William Staniforth’s life was saved by a test at the hospital when he was five-months-old.
It revealed he had a metabolic disorder requiring a special fat free diet.
The LCHAD deficiency - which affects only six people a year in the UK - prevents the body from breaking down stored fats for energy due to low levels of a particular enzyme.
William, from High Green, Sheffield, is speaking out about his ordeal - which saw his heart muscle grow until there was no space for it to pump - as part of National Rare Diseases Day today.
The 19-year-old said: “It’s so important for others to know about problems like mine.
“Sometimes it’s really frustrating when people don’t understand I can’t eat certain things and how often I need to. I’m just so glad I had those tests at the Children’s Hospital because now I know what I need to do to stay healthy.”
The Children’s Hospital currently tests all newborn babies for five diseases - but a two-year project to screen week old babies for five more conditions is to start soon.
Jim Bonham, director of the laboratory service, said: “It’s our job to recognise the clinical hallmarks of rare disorders but this is sometimes very difficult before they become seriously ill.
“With the study we’re about to start, all babies will be tested a few days after birth to ensure that none are missed and that treatment can begin at an early stage.”