Airdrie family grateful for donations in support of son with rare genetic muscular disorder

An Airdrie family is thanking friends and family for their kind donations, as they hope to raise enough money to cover the cost of a stem cell transplant for their son suffering from a rare genetic mobility disorder.

Jayse Petten was just three years old when he was diagnosed with Duchenne muscular dystrophy (DMD), a genetic disorder characterized by progressive muscle degeneration and weakness due to alterations of a protein called "dystrophin" that helps keep muscle cells intact.

Now nine years old, he continues to fight every single day to maintain mobility, strength and ultimately any sort of active lifestyle.

"He's such a strong kid," said Lyndon Petten, Jayse's father.

"There are days when he can barely move, but he's still sitting on the couch just laughing away. He's full of joy. He's full of hope. We're a strong family of faith. We put our faith in Jesus and it's overflowing into our kids and he's looking for that, too.

"He's just one positive kid who just loves life."

There is no definitive cure for DMD, but there are currently six approved stem cell transplant procedures available outside of Canada to slow progress of the disorder.

The Petten family participated in stem cell trials and eventually received approval for a private stem cell transplant treatment in Mexico.

The procedure takes place in two weeks but comes with a $30,000 price tag to cover the cost of travel and time away from work.

A GoFundMe page has since raised more than $20,000 toward that goal.

Jayse's mother, Skye Petten, says she's been incredibly moved by the messages she's received from complete strangers willing to lend a hand.

"Every day as a parent, it's really hard to see your kid struggle with basic things like getting dressed or getting out of bed or being left behind when he's playing with kids," she said.

"So, when there's a little bit of hope that goes such a long way to help make it a little better."

ADVOCATING FOR A CURE

The prevalence of DMD in Europe and North America is about six in 100,000 individuals, classifying it as a rare disorder.

DMD is typically diagnosed early in childhood at the ages of two or three.

Some of the early signs include difficulty for a child to run, jump or walk.

Other symptoms include enlargement of the calves, a waddling gait or an inward curve of the spine.

Perry Esler, CEO of Defeat Duchenne Canada, says the challenge of his organization's work comes in the form of advocacy efforts and continuous calls to the federal government to approve DMD treatments.

"There is hope in what's coming down the pipeline, in terms of drug treatments in the future, but if Canada doesn't start approving some of these medications, then it really doesn't matter to these affected Canadian families," he said.

"The goal right now is for us to get to a point where we can see the progression of the disease (lessen from) what we have seen perhaps 10 or 20 years ago."

Defeat Duchenne Canada is the country's only national charity dedicated to ending DMD.

Over the past 25 years, it has raised more than $16 million for research with the goal of providing education and resources for families and neuromuscular clinics across the country.

Esler says families shouldn't have to go through this journey alone and that his team will continue to support those affected by the rare disorder.

"Our goal is really to bring the community together so they feel like they have some support and if we're doing that amongst funding the research, I feel like we can create a strong community for this across the country," he said.

The Government of Canada announced last month in its federal budget an investment of up to $1.5 billion over three years in support of the first-ever national strategy for drugs for rare diseases.

The initiative hopes to increase access to and affordability of promising and effective drugs for rare diseases to improve the health of patients across Canada.

Alberta Health provided the following statement:

"Stem cell transplants for Duchenne muscular dystrophy are not approved by Health Canada and are considered experimental. As such, they are required to go through safety and efficacy processes, which may include conducting clinical trials. Treatments not approved by Health Canada are not covered by the Alberta Health Care Insurance Plan, and this includes stem cell transplants for Duchenne muscular dystrophy. Treatments that are experimental or provided through clinical trials or research studies in another country are not eligible for financial assistance through the out-of-country health services committee."