Ontario adds SCID to infant screens
‘Bubble boy syndrome’ 29th disease for which newborns will be tested
Seven years after Ethan Peters was diagnosed with a fatal but curable genetic disorder as a newborn, the little boy from Niagara is alive, well and medication-free.
Ethan’s older sister, Brooklyn, was not so lucky.
Lori and Jason Peters brought their seemingly healthy second daughter to the doctor shortly after she turned three months old. Brooklyn, they thought, had a harmless cough.
Within weeks, the Peters’s infant daughter had been hospitalized twice with bouts of pneumonia. A trip to the emergency room saw Brooklyn resuscitated. She was tested for allergies and cystic fibrosis; both were negative. Doctor’s concluded Brooklyn had a bad reaction to her pneumonia antibiotics and sent her home.
Less than a month later, Brooklyn was back in the emergency room with double pneumonia. She died 11 days later, fighting a would-be curable illness.
Doctors, Lori said, called Brooklyn’s case a mystery.
“The most frustrating part of losing our beautiful daughter was that she was never given a chance to fight. We never knew what we were fighting. We felt so helpless and lost.”
From blood work taken hours before she died, doctors diagnosed Brooklyn with severe combined immunodeficiency (SCID). The disease, also known as bubble boy syndrome, weakens newborns’ immune systems, leaving them unable to fight off even the most innocuous infections.
Brooklyn’s diagnosis meant the Peters’s third and fourth children, Sheridan and Ethan, were immediately tested for the disease. Sheridan was healthy, but Ethan was not. Early detection allowed the Peters’s only son to successfully receive treatment in the form of a bone-marrow transplant soon after birth.
The early screening that saved Ethan’s life was once performed only on children with a family history of the genetic disorder, but as of Aug. 12, Ontario became the first jurisdiction in Canada to begin screening all newborns in the province for the rare and deadly disorder.
Deb Matthews, Ontario’s Minister of Health and Long- Term Care, joined Lori, Ethan and his two sisters, Madison and Sheridan, at CHEO on Tuesday to announce SCID as the 29th disease or condition tested for through the province’s newborn screening programs.
“What we know now is that if we do newborn screening, and if that screening is done within the first seven day of life, we can actually cure the child of that disorder 95 per cent of the time. This screening will save countless lives; we expect up to 10 per year but over the course of the screening it will be hundreds of lives that are saved.”
About 140,000 babies are born in Ontario each year. Since 2006, Newborn Screening Ontario, located at CHEO, has increased the number of diseases or conditions that can be tested for with a single prick of a needle from two to 29.
NSO’s director Dr. Pranesh Chakraborty said about 200 babies born in Ontario a year will receive early treatment because of the screenings for diseases like cystic fibrosis and sickle cell disease.
Since beginning to screen for at least 28 diseases, Chakraborty said more than 1,200 children have received early treatment, thanks to NSO’s early detection program.