Baby screening project saves girl
A pilot project to screen newborn babies for rare diseases has already helped save a girl's life, say doctors.
Blood tests revealed the presence of metabolic condition Maple Syrup Urine Disease 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 NHS Foundation Trust. Doctors are publicising the project's success to coincide with National Rare Diseases Awareness Day on Thursday.
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 than would be ordinarily the case.
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 born unable to cry properly and quickly 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.
Dr Anupam Chakrapani, consultant in inherited metabolic disorders at Birmingham Children's Hospital - where Habul is receiving ongoing treatment - said the screening had allowed the baby's speedy recovery.
"The expanded newborn screening project allowed the diagnosis and treatment of this rare condition and enabled Habul to recover quickly and as a consequence she has remained very well," he said. "She will continue to require a very strict diet but with careful monitoring and support she should do well."
Habul's mother Fahmeeda Khatoon, from Birmingham, said the screening project was an "excellent idea" which had given her daughter the best chance to lead a normal life.
"She's a very lucky girl," she said. "When the doctors found out, she had to be taken straight to the intensive care unit. Back home in Pakistan there might be many children that unfortunately go undiagnosed or might die on a daily basis so I'm very appreciative to the doctors and the team here for everything they have done for us."