French boy’s disease leads family to Canada

Condition is caused by an inability to absorb minerals such as calcium or phosphorus

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 journalists.

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 characterised 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.

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

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

In Winnipeg, they were welcomed by Cheryl Greenberg, a geneticist at the University of Manitoba who was leading the study. Julien received his first treatment at the Winnipeg Children’s Hospital in January 2010, when he was 7 years old.

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

In 2012, exhausted by the gruelling transatlantic trips, they decided to immigrate to Canada, where Melanie says there are better options for people with disabilities.

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