City trials lead to first treatment for rare bone disease

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This article was published 14/11/2015 (3626 days ago), so information in it may no longer be current.

Deb Taillefer just thought she had ‘knock knee’ as a child that relatives told her she’d grow out of.

Now almost 50, Taillefer said it wasn’t until she was an adult that she discovered she had the rare bone disease hypophosphatasia.

That’s why Taillefer said she’s hoping Soft Bones Canada, the new organization set up that held its startup meetings recently in Winnipeg — will help ensure people don’t wait decades to be correctly diagnosed.

“We look at support and awareness,” Taillefer said recently.

“I’m hoping our organization will bring more awareness to the disease and the families who are affected. It’s not just the person who has it who is affected. It is the entire family.”

Hypophosphatasia, or HPP, is a rare bone disease that can sometimes be fatal. It was first diagnosed by Dr. Bruce Chown in Manitoba in 1935.

One person out of every 100,000 people globally is afflicted with the disease.

In Manitoba, the numbers are higher because a greater percentage of it is prevalent in the Mennonite community. In that community, one in 2,500 babies is born with it, so pediatric doctors here see one case of HPP every year.

It’s one of the main reasons the Children’s Hospital in Winnipeg has been part of an international study and drug trial for HPP.

It’s also why the organizers of the new national HPP group came here for its initial meetings.

The study has been so successful here, a month ago Health Canada approved the drug Strensiq, produced by Alexion Pharma Canada, as the first approved treatment for children who have HPP.

“It’s a milestone because our work is not done, even though we have regulatory approval,” Taillefer said.

“Yet, it’s a significant one because, before now, there was no therapeutic option for patients.”

Dr. Cheryl Rockman-Greenberg, director of Health Sciences Centre’s metabolic service and the lead doctor here for the drug study, said it is wonderful to finally have a treatment for children for a disease that traditionally has had a high mortality rate.

“And it’s just the beginning,” she said, adding credit must be given to the University of Manitoba and the Winnipeg Regional Health Authority for the study, and to Ronald McDonald House for housing patients and their families.

“This shows Canada can be leaders in doing research. Clinical trials cannot be underestimated.”

But while Rockman-Greenberg said being part of the trial and the drug approval is “very exciting,” she added people shouldn’t lose sight of the ultimate goal.

“It is really about the patients,” she said.

One of those patients, Amy Tinsley, became the first baby in the world to take part in the experimental treatment and clinical trial when she came with her parents to Winnipeg from Northern Ireland in 2008, when she was just six months old. Her symptoms were so severe that even while she was still in her mother’s womb, her bones were breaking.

A few months after Tinsley began treatment and just a month after she celebrated her first birthday, she was able to go home when the European Union approved use of the drug.

And her mother could give her gentle hugs for the first time.

“Every day we have seen improvement in her,” Tinsley’s mom, Liane, told the Free Press at the time.

“We want to give our thanks to everyone.”

Another child who was in the drug trial, Julien Ferrer, came from France when he was seven. Three years ago, his family decided to make Winnipeg their home after he was treated successfully.

“Nine years ago after his diagnosis, we thought he was going to die,” Ferrer’s mom, Melanie, told the Free Press in 2012.

“When we first came here he was using a wheelchair… he was on morphine twice a day. Now look at him run around. And he doesn’t need morphine.

“Winnipeg has given our son a new life. ”

Deborah Sittig has seen many people with HPP and their families since founding the Soft Bones Foundation in the United States in 2009 after her son was diagnosed with it.

Sittig, the president of the organization, said she was pleased to help the Canadian chapter of Soft Bones begin because she knows what it’s like when there’s no organization to turn to for answers or support.

“When my son was first diagnosed, I went on the computer thinking ‘Where is the American Cancer Society equivalent for hypophosphatasia?’ ” she said.

“I quickly found out that it was an ultra-rare disease, and it didn’t have anything. I decided to start it.”

Sittig said she reached out around the world on her computer — “Thank God for the Internet” — and began compiling a list of people who had HPP.

“You want to connect with somebody and just talk to them, just to have the assurance that there is life after diagnosis.”

Sittig said while there are now HPP groups around the globe, her organization has become the hub because English is universal.

Sittig said she looks forward to continuing to meet and help Taillefer, who she says “has the energy and drive” to get the new Canadian organization going.

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Taillefer, who helped set up an earlier, smaller organization, the Canadian Hypophosphatasia Society, said she is hoping the new group will reach more people and help dramatically reduce the incidence of misdiagnosis of HPP.

“A lot of people are told at first they have osteoporosis, fibromyalgia or severe arthritis,” she said.

“You can find it with a standard blood test. When the levels (of alkaline phosphatase) are high, it is a liver problem, but when they are low, it is this.

“We’re hoping that with this organization, and raising awareness with both patients and physicians, we may discover there’s a lot more people (with the disease) than we know about.”

kevin.rollason@freepress.mb.ca

Kevin Rollason
Reporter

Kevin Rollason is a general assignment reporter at the Free Press. He graduated from Western University with a Masters of Journalism in 1985 and worked at the Winnipeg Sun until 1988, when he joined the Free Press. He has served as the Free Press’s city hall and law courts reporter and has won several awards, including a National Newspaper Award. Read more about Kevin.

Every piece of reporting Kevin produces is reviewed by an editing team before it is posted online or published in print — part of the Free Press‘s tradition, since 1872, of producing reliable independent journalism. Read more about Free Press’s history and mandate, and learn how our newsroom operates.