Timely diagnosis puts Quebec boy with rare liver condition on the road to recovery

A diagnosis in the nick of time 3-year-old Ibrahim Bashir was diagnosed with biliary atresia as a baby, a condition that requires a rapid intervention.

Ibrahim Bashir is an active kid these days — when CTV News talked to him last week, his parents could barely keep up with him.

"He runs into my office, [and] he bounces off of everything. And honestly, I have to say with children," said Dr. Najma Ahmed, a pediatric gastroenterologist with the Montreal Children's Hospital. "They just power through everything."

But almost four years ago, that wasn't the case.

"And he's born, and he's beautiful," said his mother, Zubia Sheikh. "But we notice he has jaundice right at birth."

After five weeks of consultations at a local hospital over lethargy, vomiting and cement-coloured stool, they took him to the Montreal Children's Hospital.

"Twelve hours later, I get a call that he needs to be brought to the emergency right away," Sheikh said.

Bashir was diagnosed with biliary atresia, a rare disorder.

"Normally, you have bile ducts that connect to your intestine. And in biliary atresia, those bile ducts get scarred and destroyed," Ahmed said. "If you look across Canada, you're looking at 18-20 cases a year. At the Children's, it's like two, no more than three a year. It's a very rare condition. And it's like looking for a needle in a haystack."

The clock was ticking too — ideally, the illness needs to be diagnosed within 45 days of birth. And the solution, at least for the short term, is surgery.

"It's called a Kasai procedure, where we attach the liver to a loop of intestine, and that allows the bile to flow through the intestine," Ahmed said.

Sheikh said rushing her son to surgery so early was a harrowing experience. She had a discussion with the surgeon.

"And he said what's making you cry at this moment, and I said, 'the fear of losing him.' And he said, 'well, if you don't do the surgery… you will,'" she said.

Approaching his fourth birthday, Bashir now runs around like any other three-year-old kid. But there are emotions in the aftermath.

"Guilt that maybe I should have brought him in earlier," Sheikh said. "And fear of maybe could happen with him."

Ahmed said over time, the damage could continue, and, eventually, Bashir will likely need a liver transplant. The Children's Hospital is also working on a screening tool to identify cases like his earlier and more reliably.

But as things currently stand, there are no plans for a transplant, and he's looking forward to his fourth birthday on Aug. 20.

"For now I just want him to have a good quality of life," Sheikh said. "And we're hopeful, and we're faithful, and for now, we're just hopeful he'll get to stay with this native liver."