Two Cranbrook families are raising awareness of a rare genetic condition known as Duchenne muscular dystrophy (DMD), to help encourage more research and medical innovation.
11 year-old Titan and five-year-old Brixton were both diagnosed with the condition prior to age three. DMD is an inherited disease that leads to progressive degeneration of the muscles and weakness, due to the body being unable to produce a protein called dystrophin that helps keep muscle cells intact.
Titan and Brixton are currently the only two known children in the Kootenays who have DMD, and the boys met for the very first time at Cranbrook's local Walk and Roll on May 25, a fundraiser event to help raise money to support scientific research.
They completed laps around the lake at Idlewild Park with their families, in support of a national goal to raise $1.2 million for DMD research. Titan's mother Stacy Francoeur has been hosting the event for a few years, but this was the first year that Brixton and his family joined.
Francoeur was first made aware of Brixton's family through a daycare worker, who approached her and told her there was another child living in the area with the same condition.
"I was really excited just to reach out, offer help. I had learned so much," said Francoeur. " ... I never got to hug another mother or father who knew how I felt, so I was like, I need to get a hold of these people."
DMD is a genetic condition that is passed to the child through the mother. Women do not usually have signs or symptoms of it, as they have an extra X chromosome to compensate. Instead, they carry the condition and pass it on to male children, who are affected by it. DMD occurs in one in every 3,500 to 5,000 newborn boys.
Onset of symptoms typically begins around age two or three. Children with DMD may have difficulty running, walking, jumping or climbing stairs. Progressive muscle weakness and atrophy start in the legs and pelvis, and continue in the arms and neck. An increase in muscle size is noticeable in the calves.
DMD causes progressive heart and respiratory failure. The projected lifespan for the condition ranges from teens to early adulthood, although some people have achieved middle age.
Titan lost his ability to run or ride a bicycle around the age of eight, and he now relies on a wheelchair to get around. Brixton, meanwhile, is still young and fairly active.
Brixton's father Evan Gendron first took note of the condition, when he was not able to crawl as a baby and his walking was delayed until age two.
Francoeur noticed similar patterns in Titan, and it took some persistence to get him diagnosed.
"I kept bringing him back, and they kept sending me home. And I was like, 'no I'm not leaving. I need more. Do something more," said Francoeur.
The boys are on the same clinical trial drug known as Vamorolone, which helps reduce inflation in muscle tissue to slow down muscle damage. Titan was placed on the medication at the age of four, part of the very first test cohort in B.C.
Francoeur said that while the drug has been shown to be helpful in younger children, research is beginning to suggest that children eventually outgrow it. It also comes with side effects like weight gain.
A trial to study exon skipping therapy was launched recently at B.C Children's Hospital for children with DMD who are under 12 years old who are still mobile. Exon therapy is a treatment used to correct mutations in the dystrophin gene.
Gendron said he's hopeful that with an increase in awareness, more treatments or therapies will be uncovered.
"In last five year's there's been a lot of progression, and we're hoping in the next five they'll be even more," he said.
The families are planning to host another walk next year to generate even more funds.
