The impact a Winnipeg study has had on a family from Ireland 13 years later

A treatment for an infantile severe bone disease that was tested in Winnipeg is proving to be life-changing 13 years later.

In 2008, CTV News first introduced you to Amy Tinsely, she was 9 months old at the time.

Her and her mother Leanne, left Belfast, Ireland in a hurry to come to Winnipeg on the chance the little girl's life could be saved.

At the time, a groundbreaking clinical trial was happening at the HSC Winnipeg’s Children's Hospital. It was testing a new drug for a severe type of rickets Amy was born with, called hypophosphotasia—which there was no treatment for.

When she was born, her bones were so soft she couldn't be hugged and many children with the condition didn't live past two.

"To have Amy here today at 13-years-old, from being told she would never see her first birthday, is phenomenal," said Leanne.

Today, Amy said she loves baking and school, although she does need some assistance to get around the school’s hallways.

"So that I don't fall over and get squashed in the crowds," Amy said via video conference from Belfast on Monday.

Amy doesn’t have any memory of her time in Winnipeg, but Mom distinctly remembers the day Amy’s doctors in Ireland found a clinical trail in Winnipeg.

"Within about three hours our geneticist comes busting through the door saying he found this clinical trial starting in Canada (and) would we be interested,” she said. “So, these things don't happen by chance."

The study was testing a new drug called ENB-0040 which had the potential to save Amy’s life. HSC Winnipeg’s Children's Hospital was the first site in the world to test the treatment, and Amy was the first infant to get it.

"We brought many children after Amy to Winnipeg for the clinical trials," said Dr. Cheryl Rockman-Greenberg, clinician scientist at HSC Winnipeg Children’s Hospital and CHRIM.

Rockman-Greenberg says the trial ended in 2016 and in 2019 the enzyme replacement was Health Canada approved. She said it is now covered for eligible patients through most province’s drug formularies and she expects new treatments to come.

"This will all look different in 10 years from now," Rockman-Greenberg said.

By then Amy will be 23 and she already knows what she wants to do to with her now bright future.

“I would like to be a nurse when I am older, a children's nurse," said Amy.

Amy and her family were in Winnipeg for a total 22 weeks back in 2008 and they headed back home to Belfast once the treatment was available there.

Hypophosphotasia worldwide is about 1 in 100,000 but in some population groups it can be higher.

In Winnipeg Rockman-Greenberg said doctors see about one new severe case per year since it is more prevalent in the Mennonite community.