Ottawa Sun: CHEO test helps diagnose rare genetic condition


Posted by Megan Gillis, September 6, 2014

At nearly three months old, little Etienne Blais has big brown eyes, takes enormous delight in sticking out his newly-discovered tongue and is tantalizingly close to letting his parents sleep through the night.

“He just looks like a happy, healthy baby,” dad Pierre said as Etienne napped peacefully in his car-seat. “If it wasn’t for the newborn screening, we would have never known that he was sick or that we have to take special precautions with him.

“If he was born a year earlier or in a province that doesn’t have the screening – it could have been fatal.”

Weeks after Etienne’s birth, mom Monika’s midwife called with frightening news – their growing baby had screened positive for a rare genetic condition they’d never known existed. Tests confirmed he has Severe Combined Immune Deficiency.

Babies with what was once known as “Bubble Boy Disease” seem healthy, but key cells in their immune system are missing or don’t work so they develop repeated and dangerous infections like pneumonia and meningitis in their first months of life.

Without treatment, it’s deadly.

And help often came too late – until one year ago, when Ontario became the first, and so far only, province to add a CHEO-pioneered test for the condition among 29 that every newborn is checked for by Newborn Screening Ontario (NBO), which is also based at the hospital.

Thanks to that routine heel prick, Etienne gets twice-weekly injections of the enzyme his body is missing from masked and gowned doctors and nurses. Etienne is strictly isolated – even his first-time grandparents can’t visit the family’s Barrhaven home – buying time to seek a cure, like a bone marrow transplant or the hope of experimental gene therapy.

It cost about $5 to add SCID – which affects one in 58,000 babies according to a new U.S. study – to the screening program, which has found 1,500 babies with rare but treatable diseases among more than 1.2 million newborns tested since it started at CHEO in 2006.

That’s parlayed a $50 test into savings of lives, suffering and the cost of treating kids in emergency rooms and intensive care units and for life if they’re permanently disabled, said Dr. Pranesh Chakraborty, who both treats little patients and heads NBO. He sees a future where testing can be faster, cheaper and target more diseases while minimizing screening false alarms.

That also means more conversations where Chakraborty has to persuade doubtful parents that their baby – who doesn’t look sick, has never been rushed to the emergency room or landed in ICU – desperately needs treatment.

“I’m way happier having this conversation than the ones where I have to tell a parent about why their child died – yet we could have done something about it,” he said.

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