For Nicola Worsfold and her husband Ed, the day they were told their six-year-old son Owen had Duchenne Muscular Dystrophy (DMD) is one they’ll never forget.
“It was like someone took a huge sledgehammer and knocked us off our feet,” she recalls. “We found out that there was nothing we could do because, at the time, there was no cure or medication that could help.”
A progressive muscular disorder, DMD is caused by a genetic mutation that prevents the body from producing the structural protein needed to protect muscle cells. The Canadian Neuromuscular Disease Registry estimates that there are less than 800 cases in Canada, with almost all affecting boys.
As it stands today, DMD is fatal. A child with the disorder becomes weaker over time until they succumb to the disease in their early to mid-twenties. It can be inherited or, as with Owen’s diagnosis, the result of a random spontaneous mutation.
The burden of rare disease
The diagnosis shocked the Worsfolds since Owen appeared to be a perfectly happy, healthy child. While he showed some signs of fatigue and clumsiness, they always put it down to him being very big for his age.
“When something really blindsides you, suddenly you find yourself in a world you never imagined,” says Nicola. “There’s no book on how to do this, no guidelines on what will happen to you from here on out.”
The strain on Owen and the family has been immense. “Every day with this disease is a challenge–with schools, the government, programs, and the community. We suddenly found ourselves thrown into the new world of accessibility which comes with a constant state of stress and anxiety” says Nicola. “It impacts everything–our relationship, his younger sister, our family, our careers. It can be overwhelming sometimes.”
Now 12, Owen is still walking but he’s slowing down and getting weaker, his mother says. She is dreading the inevitable transition to a wheelchair. “That’s a significant milestone because it takes away the independence of the child and significantly increases the workload on the caregivers as well,” she says.
Giving a voice to families and caregivers
While Owen’s prognosis seemed bleak, Nicola had one advantage. She studied molecular biology and genetics and had worked in the pharmaceutical industry for years. She applied her experience and knowledge to find clinical trials that would match Owen’s mutation.
“There were no trials in Canada at the time,” she says. “The closest site was Rochester, NY. Thankfully, we managed to get Owen into it. With that came an exhausting grind for us and our extended family of weekly six- to eight-hour drives to Rochester for infusions over almost three years.”
“If I hadn’t done all this research and advocacy for Owen, we may not have had the opportunity. I was lucky enough to have the knowledge around the process. But I also realized that other families dealing with Duchenne don’t.”
In 2016, Nicola and Ed founded Stand for Duchenne Canada, an advocacy group supporting families living with Duchenne. “Right now, our biggest concern is that there are no approved therapies for DMD in Canada, despite these therapies being available in other countries,” says Nicola. “Patients and their families don’t have any formal mechanism to provide input into the drug approval process. Our key focus is changing this and doing so urgently.”
Putting Duchenne on the map
The quest for a cure in Canada dates back nearly 30 years to the founding of Jesse’s Journey in 1994. The organization was established in London, ON by John and Sherene Davidson whose son Jesse had recently been diagnosed.
The image of 15-year-old Jesse being pushed in his wheelchair by his father through towns and cities across Ontario drew the support of the nation and raised $1.5 million for research. Jesse and John became household names, gaining the attention of Queen Elizabeth and Prime Minister Jean Chrétien, and capturing the hearts of Canadians from coast to coast to coast. In 1998, John crossed Canada on foot–from St. John’s, NL to Victoria, BC–raising an additional $2 million. Sadly, Jesse lost his battle with Duchenne in 2009. He was 29 years old.
Since then Jesse’s Journey has directed over $11 million to research. Over that time, John says the organization has built on every little bit of progress they could find.
It has also built a strong collaborative community, which includes advocacy organizations such as Stand for Duchenne Canada and La Force DMD. “We do what we do for research,” John says. “Others provide support in other ways. But at the end of the day, our collective efforts are pointless if we can’t make the fruits of our research and advocacy available and accessible to patients in Canada”.
No time to waste
John has seen progress over the decades. “I absolutely believe we will find a cure in my lifetime,” he says. “I wanted to find one in Jesse’s and that didn’t happen, but we can help the next little guy. If it weren’t for Jesse, research wouldn’t be where it is today.”
One positive sign is that more drug development companies are including Canadian clinical trial sites in their research programs. But the process of waiting for decisions around drug approval and reimbursement can still take years. For children like Owen and others like him, that’s unacceptable as there are treatments that could be giving them more time by slowing down the progression of the disease.
You can’t waste a minute, because every single day is important to them,” Nicola says. “We may focus on the big milestones like no longer walking, but there is damage happening daily within their bodies that we can’t reverse or stop, but can potentially slow down. Every day waiting for a potential drug to be approved, our boys are getting weaker. This is putting our Canadian Duchenne children at risk.”
And that’s one risk the Worsfolds are not willing to take.
It’s time for change. Join us on Thursday, September 26 at 7 p.m. ET, for a town hall discussion with policy leaders and rare disease voices, about why patient and caregiver perspectives should be heard as new Duchenne treatments are being evaluated. To confirm your attendance or share the event with your network, click here.
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