Newborns in Ontario are now among the first in Canada to be screened for Severe Combined Immune Deficiency Syndrome, a genetic disorder often nicknamed “bubble boy disease.”
Children with SCID have gene mutations that render their immune systems almost useless and make it difficult for them to fight any form of infection. If left undetected, the illness typically leads to death early in life.
SCID was nicknamed “bubble boy disease” after a Texas boy named David Vetter was born in 1971 with the condition. He was placed in a plastic bubble within minutes of his birth and lived his whole life in a sterile environment. He died at the age of 12 after a failed bone marrow transplant led to lymphoma.
The disease is estimated to affect about one in 100,000 children, although that number is likely higher, says Dr. Pranesh Chakraborty, the director of Newborn Screening Ontario, the provincial program that coordinates all infant screening in Ontario.
“A lot of these kids get sick with repeated infections and may not get diagnosed and may actually die without a diagnosis. So the exact frequency of the disease is unknown,” he told CTV News Channel.
Lori Peters, whose daughter Brooklyn died of a mysterious disease that doctors later learned was SCID, welcomed the new screening.
The test saved Peters’ other child, Ethan, who was able to get a bone marrow transplant before he was a year old.
“I’m healthy and I didn’t get sick,” said Ethan, who is now 8.
"For our family it’s been very important and we are so proud to have Ethan, and see how healthy he is and how perfect he is,” Peters said.
Ontario’s ministry of health says screening for SCID is expected to save the lives of up to 10 babies a year in the province.
According to Newborn Screening Ontario, SCID is the first disease in Ontario’s screen that is not just treatable, but also curable.
CTV medical specialist Dr. Marla Shapiro says treatment for the condition involves a bone marrow transplant, which can help give affected children a functioning immune system.
"If the diagnosis is made early enough, the child can be put in an immune sterile environment while they’re waiting to find a suitable donor. And that transplant can be a cure," she told CTV News Channel.
Dr. Chakraborty notes that a bone marrow transplant is not an insignificant treatment and there are serious risks associated with the transplants.
“But the safest time to do it the earliest possible time in life. There’s very good evidence that a bone marrow transplant in the first three months of life is much more successful,” he said
Ontario’s Health Minister Deb Matthews says that until this test became available, many infants with SCID did not get diagnosed until it was too late.
“Starting this month, no Ontario family will have to experience the loss of a child from SCID. This new screen will help newborns get the best possible start in life," she said in a statement.
Newborn Screening Ontario screens all infants born in Ontario for 29 congenital illnesses. Those illnesses include blood disorders such as sickle cell disease, as well as metabolic and endocrine disorders, such as fatty acid oxidation defects.
The program currently performs over 145,000 screens annually, using tiny blood samples taken during a heel prick shortly after the child’s birth.
With a report from CTV’s medical specialist Avis Favaro and producer Elizabeth St. Philip
