The IWK Health Centre has expanded its newborn screening program in the Maritimes to include an immune deficiency disorder — sometimes called the "bubble boy" disorder — that, if not detected and treated in the first six months of life, is typically fatal.
All babies born in Nova Scotia, New Brunswick and P.E.I. will now be screened for Severe Combined Immune Deficiency Disorder (SCID).
The disorder affects a baby's immune system, making them unable to fight off common infections such as colds, the flu, and pneumonia — to the point where their lives are at risk.
The term "bubble boy disorder" was coined after David Vetter, a boy from Texas with a type of SCID, lived for 12 years in a plastic, germ-free bubble.
Treatment has '95% success rate'
Dr. Thomas Issekutz is a pediatric immunologist at the IWK Health Centre in Halifax. He said, on average, they see one case in every 20,000 to 30,000 births in the Maritimes. But an accurate count is difficult to achieve, he said, because many children die before they can be diagnosed.
"Almost all of these children will die before a year of age if they are not identified and treated," Issekutz said. "I think the most dramatic thing in this, is that this is a disorder that if we diagnose it early, we can cure … so that the babies grow up to completely normal life."
The earlier you can treat a baby with SCID, the better, he said. Treatment involves replacing the child's immune system, usually by stem cell transplant using bone marrow or umbilical cord blood cells. Issekutz said this treatment has been "extremely successful" in infants.
"In fact, done in the first six months of life, there's about a 95% success rate."
Issekutz estimates adding this disorder to the newborn screening program in the Maritimes will cost approximately two dollars per baby, at an average of $30,000 to $40,000 a year.
The Maritimes is only the second jurisdiction in Canada to cover SCID screening for newborns. Ontario launched its program in August 2013.