Suffering from an incurable disease: two brothers dream of a 'magic pill'

A family is clinging to the hope of a new treatment that could prolong the lives of their two teenage boys, who have a rare, incurable degenerative disease.

"We're living in a lot of hope. I try to stay informed," confides the father, Sébastien McKenzie-Faucher. "It would be fun if there was a magic pill. [...] I'm living in hope of a vaccine that will cure it."

Brothers Édouard and Jérémie Fiola-Faucher, aged 15 and 12, both suffer from Duchenne muscular dystrophy, a rare, incurable genetic disease. Their life expectancy is between 25 and 35 years.

Duchenne muscular dystrophy

Incurable genetic disease

It affects 1 in 4,000 boys

Between 300 and 400 cases in Quebec

The first symptoms from 3 years old

Progressive irreversible loss of muscle capacity

Life expectancy is around 30 years

^{Source: Sainte-Justine Hospital}

Like the "catastrophe"

"When the diagnosis comes, it's like a catastrophe. We can already see the end, the problems that are coming," recalls Catherine Fiola, their mother. "But everyday life quickly takes over. The children aren't sick at first."

Edward was diagnosed at age 3 after experiencing coordination problems. His brother, who was a toddler at the time, received the devastating diagnosis the following year.

"It was hard. Your life plan has to change. Everything you imagined, traveling with the kids, having grandchildren," says the 47-year-old father.

"It's endless grief," says Jérémie, lucid despite his young age. "I liked sports."

The Brossard family also has an 18-year-old older sister. She is not affected by the disease, which mainly affects boys.

Over the years, the brothers have lost their muscular capacity. Edward no longer walks at all, but Jeremy can still move around the house for the time being. They both go to school in motorized wheelchairs.

All the adapted daily life

Elevator, automated doors, hospital bed, adapted vehicle: several improvements have been made to improve the boys' daily lives. They even took a plane this summer for a trip to Western Canada.

"It's a constant adaptation, the small steps, everything is more complicated," sighs the father, an electrical engineer.

To help regenerate their muscles, the boys take a drug, but this drug comes with its share of side effects: osteoporosis, cataracts, growth retardation, and weight gain.

Every evening, they do 15 minutes of stretching exercises, which helps their muscles—a ritual they've hardly ever skipped in 12 years.

"It's a discipline, we've created moments of happiness by doing this," emphasizes ^Ms. Fiola.

Despite the bleak future, the family remains optimistic and anchors itself in the present moment. Édouard will enroll in CEGEP next year.

"We'll pay for all the baccalaureates you want to do, you'll be a student!" smiles his mother, refusing to look too far ahead.

"There is happiness everywhere. Every day, good things happen. I don't think so much about illness," swears Édouard.

A promising new treatment coming soon

A new drug to improve the quality of life of patients suffering from a rare incurable disease could see the light of day, thanks to Quebec researchers, within a few years.

"It's definitely a source of hope," says Nicolas Dumont, a researcher at CHU Sainte-Justine and holder of the Canada Research Chair in Stem Cells and Neuromuscular Diseases.

Currently, patients with Duchenne muscular dystrophy have almost no options when it comes to medications (glucocorticoids), and these have serious side effects such as anxiety, osteoporosis, weight gain, etc.

The Quebec discovery, recently published in the scientific journal Nature , shows that the injection of bioactive lipids (anti-inflammatory) helps to better heal and strengthen muscles, while they are degenerating.

Walk longer

"It's not a miracle molecule, not a cure, but it's something better to improve quality of life," explains the researcher. "They will walk longer."

"We hope this would be enough to give patients a few more years of good quality of life. So that they can maintain their gains. They don't want to win, but to stop losing functions and continue to be independent," explains Mr. Dumont.

If all goes well, the treatment could be available within five years. Clinical trials will also begin in the coming years.