METRO NEWS: Barrhaven family seeks treatment for baby with rare immune system disorder
Barrhaven family seeks treatment for baby with rare immune system disorder
By Lucy Scholey
Like many seven-month-olds, Étienne Blais is learning how to crawl and has two bottom teeth poking out. He has big brown eyes and now laughs as easily as he sleeps through the night.
His parents, Monika and Pierre Blais, should be proudly parading their first baby outside of their Barrhaven home. But they can’t.
Étienne has a rare life-threatening disease – a harsh form of Severe Combined Immune Deficiency (SCID) – which means he has a vulnerable immune system. Any flu virus or common cold would be dangerous – or potentially fatal – for Étienne.
That means the Blais family has been in near-isolation for the past seven months. Neither parent can work for fear of bringing home anything contagious. Something as small as a trip to the grocery store is well planned, with disinfectant wipes handy. Étienne’s grandparents only met him recently – wearing face masks – but otherwise the family has been disconnected from friends and coworkers.
“We had all these plans of what we were going to do with the baby when he got here,” said Pierre Blais. “We were going to go on hikes and we were going to take him to the farmer’s market.”
Étienne Blais’s body is missing an enzyme crucial for fighting off toxic metabolites, according to his doctor at the Children’s Hospital of Eastern Ontario (CHEO), Dr. Anne Pham-Guy.
For that, he’s getting injections twice a week. But she said it’s usually a temporary fix.
SCID can be cured with a bone marrow transplant from a sibling. Unfortunately, Étienne is an only child and there’s no other match.
But now there’s a new experimental third option: gene therapy. Doctors implant the correct gene into Blais’s bone marrow. It’s still in the research phase, but looks promising, said Dr. Pham-Guy.
“We’re hoping that, if this works well, that he will live a completely normal life. But it’s too early to say,” she said.
The Blais family is travelling to the University of California, Los Angeles (UCLA) for the treatment in April and asking for financial help. They have a crowd-funding campaign at http://www.babyetienne.com.
In the meantime, the family has learned to adjust, said Pierre Blais.
“As much as it is hard to live on the limited income that we’re on now, it’s still nice to have so much time with him – see him develop, see him crawl and see him learn to sit.”