A PILOT project to screen newborn babies for rare diseases in Sheffield has already helped save a girl’s life, say doctors.
Blood tests revealed the presence of metabolic condition Maple Syrup Urine Disease (MSUD) just a few days after the girl’s birth.
The condition can lead to severe brain damage or even death if untreated, but youngster Habul Khatoon is now a lively, bubbly five-month-old.
The disease was picked up thanks to a UK pilot scheme to test 430,000 newborns, which is being led and co-ordinated by doctors at Sheffield Children’s Hospital.
Doctors publicised the project’s success to coincide with National Rare Diseases Awareness Day.
Screening began in July last year and is aimed at finding youngsters born with five potentially life-limiting metabolic conditions so rare they occur in less than one in 100,000 births.
The accuracy of the screening means the conditions are picked up early, so treatment can begin far more rapidly.
Baby Habul was born in July 2012 – the first month the screening started – with a condition which means she cannot break down amino acids in proteins.
She was unable to cry properly and fell into a coma, but doctors were able to treat the condition with dialysis to clean her blood and within 48 hours she was awake.
Her treatment has continued with a special diet and she will have to live with a low-protein diet avoiding foods like eggs, fish and meat.
Project leader Professor Jim Bonham, director of newborn screening at the Sheffield Trust, said the pilot was going ‘extremely well’ and had picked up seven children with metabolic disorders.
He expects the project to discover up to 16 children with one of the rare conditions by the time the pilot finishes in July.
“We’re very much looking forward to seeing the end result of this project and hope it will have changed a significant number of children’s lives for the better.”