French boy's rare disease fight leads family to Canada

June 13, 2018 by Clément Sabourin
Julien Ferrer's family moved to Canada to seek treatment for his hypophosphatasia, a rare genetic disorder affecting the bones. After receiving years of cutting-edge treatment in Winnipeg, he is thriving

At birth, doctors gave Julien Ferrer only a slim chance of surviving a rare childhood bone disease. Fifteen years on, the French teen is living a normal life in Canada, where he received cutting-edge treatment—and new hope for the future.

Julien was born in 2002 in Perpignan, in southern France. Right away, his parents Melanie and John Ferrer said they noticed some issues.

"He was a little baby, average in most ways. But he wasn't growing well, ate very little and cried a lot," his mother recalled in an interview with AFP.

A first series of X-rays showed his tiny infant bones were "translucent" and he lacked muscle mass, she said. His original doctors did not know what to make of it.

But specialists later determined he was suffering from a genetic disorder called hypophosphatasia (HPP), which is characterized by abnormal bone development.

The disease is caused by an inability to absorb minerals like calcium or phosphorus—meaning a person's bones are fragile. At the time, there were only eight known cases in France. Doctors gave Julien little chance of survival.

His distraught parents scoured the Internet for information, which Melanie said "was the worst thing to do" because the medical websites they visited said most cases for infants under the age of 18 months ended in death.

In subsequent years, the Ferrers did all they could to meet Julien's special needs while trying to ensure he could play with children his own age—even if he needed a wheelchair to get around.

They reached out to others with similar ailments, and launched an association to fund hypophosphatasia research. They even helped organize the world's first international symposium on the disorder in 2008.

But then, a turning point: Canadian researchers attending the conference announce they are launching a clinical trial for a new treatment. And a few weeks later, they offer Julien a place in the trial in Winnipeg.

Cheryl Greenberg, a geneticist at the University of Manitoba who led a clinical trial of treatment that Julien received, points at X-rays of people afflicted with hypophosphatasia
"I was speechless, and didn't know what to think," recalled John.

Days before Christmas in 2009, the Ferrers packed their bags and flew to Canada.

A new hope

In Winnipeg, they were welcomed by Cheryl Greenberg, a geneticist at the University of Manitoba who was leading the study.

Manitoba province has the largest concentration of cases of hypophosphatasia in the world, afflicting mainly descendants of German Mennonites who settled in the vast Canadian prairies more than a century ago, at a rate of one in 25,000—four times the global average.

Julien received his first treatment at the Winnipeg Children's Hospital in January 2010, when he was seven years old.

"By Easter, he was walking," said his mother, her eyes wide with astonishment as she recalled the quick transformation.

For a while, the Ferrers travelled back and forth between Canada and France for Julien's quarterly treatments, due to the limited conditions of their visas.

But in 2012, exhausted by the grueling transatlantic trips, they decided to immigrate to Canada, where Melanie says there are better options for people with disabilities than in France.

"We had to rebuild our life from scratch—we were 33, it was kind of scary," she said.

Melanie Ferrer helps her son Julien with one of the three injections he needs per week to treat his condition

The couple bought a house in the suburbs of Winnipeg and both got jobs at the French-language Saint Boniface University in the city's historic French quarter.

'Pretty normal life'

Julien, now 15, is healthy and active. He attends a high school named after the province's founding father, Louis Riel, only two blocks from the university where his parents work.

Like other teenagers, he dreams of the future, with hopes for a career either in the theater or video game design.

"I like creating things, stories or characters," says the teenager, who appears unperturbed by the three injections of medication a week he must still receive as part of his ongoing treatment.

"He has a severe form of HPP," said Greenberg.

"But he responded beautifully to the treatment, such that his bones now look almost normal, and he's able to live a pretty normal life."

The experimental drug Julien takes was authorized for sale in Canada at the end of 2017 and has been covered by his French government health plan since January.

For Julien's parents, the cure is simply "a miracle."

"What is miraculous about HPP is that we have turned in some cases a fatal disease into a treatable one, and that doesn't happen very often," Greenberg said.

Explore further: Lagging decades behind on autism care, France plays catch-up

Related Stories

Lagging decades behind on autism care, France plays catch-up

April 5, 2018
When Gaspard Bigand was 3 years old, his pre-school teachers labeled him "different." But his parents got zero advice from the French education or health care systems, and it took two years for him to be diagnosed with autism.

Therapy helps regenerate child's undeveloped bones

April 24, 2013
Four years ago, Janelly Martinez-Amador was confined to a bed, unable to move even an arm or lift her head. At age 3, the fragile toddler had the gross motor skills of a newborn and a ventilator kept her alive.

New treatment shows promise for kids with life-threatening bone disorder

March 7, 2012
Doctors at Washington University School of Medicine in St. Louis, working with Shriners Hospital for Children and other institutions, have identified a promising new treatment for a rare and sometimes life-threatening bone ...

The silver lining of an inflammatory bowel disease diagnosis

October 19, 2016
Twenty-five percent of inflammatory bowel disease (IBD) patients are diagnosed as children or adolescents—at the peak of their social and educational development. Parents of newly diagnosed patients often inquire about ...

Recommended for you

Breastfeeding protects infants from antibiotic-resistant bacteria

October 18, 2018
A recent study completed at the University of Helsinki investigated the amount and quality of antibiotic-resistant bacteria in breast milk and gut of mother-infant pairs. The findings have been published in the journal Nature ...

Inflammation in the womb may explain why some babies are more prone to sepsis after birth

October 9, 2018
Each year 15 million infants are born preterm and face high risks of short- and long-term complications, including sepsis, severe inflammation of the gut, and neurodevelopmental disorders. A new report in the American Journal ...

Dummies not to blame for common speech disorder in kids

October 9, 2018
New University of Sydney research shows bottles, dummies, and thumb sucking in the early years of life do not cause or worsen phonological impairment, the most common type of speech disorder in children.

'Genes are not destiny' when it comes to weight

October 9, 2018
A healthy home environment could help offset children's genetic susceptibilities to obesity, according to new research led by UCL.

Old drug could have new use helping sick premature babies

October 8, 2018
Researchers from The University of Western Australia, King Edward Memorial Hospital and Curtin University are investigating whether an old drug could be used to help very sick premature babies.

Insufficient sleep associated with risky behavior in teens

October 1, 2018
Adolescents require 8-10 hours of sleep at night for optimal health, according to sleep experts, yet more than 70 percent of high school students get less than that. Previous studies have demonstrated that insufficient sleep ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.