living with a rare disease in canada

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patients are waiting for access to treatments, but time is not on their side.

by diana duong

published mar 01, 2020

last updated mar 02, 2020

6 minute read

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6 minute read

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nicola worsfold and her son, owen. courtesy of nicola worsfold

when doctors diagnosed six-year-old owen worsfold with duchenne muscular dystrophy (dmd), his family was completely shocked.there were never any signs. sure, he’d get tired quickly while playing soccer and would fall sometimes, but his parents thought he might just be awkward since he was a big kid for his age. he’d always hit all his milestones and there was no family history of the rare muscle disorder. the only clue were his calves, which were larger than average. while this happens to be a common trait for boys with duchenne, owen’s parents never imagined it would be a sign of a fatal genetic disease.“suddenly, you’re told your child is getting weaker over time,” says nicola worsfold, owen’s mother. “we had no idea that he had a genetic disorder that would limit him from walking in his teenage years. the fact that he’s going to be in a wheelchair at some point and not going to live past his third decade of life — all of those things are very difficult for a parent to swallow.”duchenne muscular dystrophy (dmd) is the most common fatal pediatric disorder. the duchenne gene is found on the x-chromosome and therefore affects mostly males, however in rare cases it affects females. a progressive neuromuscular disorder that causes a loss of motor, pulmonary, and cardiac function, and ultimately, premature death, duchenne is caused by a mutation in the gene that encodes for dystrophin, a lubricating protein supports muscle fibre strength. when dystrophin is missing in the body, muscle cells are easily damaged, which causes progressive muscle weakness in the entire body.after owen’s parents came out of the “black hole” of dealing with the diagnosis, they knew they had to get to work immediately on finding a treatment. nicola, who worked in the pharmaceutical industry long before owen’s diagnosis, knew there would be challenges in getting access to drugs. duchenne is a rare disease, affecting one in 3500 male children. treatments for rare diseases are hard enough to come by, but when treatment is broken down into the specific mutations that cause the condition, it makes targeting the root cause of the disease even more difficult since the drugs are almost individualized.in canada, there aren’t any drugs approved for duchenne, but there are treatments available in the u.s. and in the u.k. the only way for canadians to get access to therapy is either by putting their children in clinical trials or fighting for the special access programme.owen’s parents found that his specific mutation qualified him for a clinical trial, which was located in the u.s. once a week, the worsfolds would drive from their home in toronto across the border to rochester, new york to get his infusions every week. this, on top of all of his other appointments quickly took over their lives.“the most frustrating thing about duchenne is there is a lot of hope on the horizon,” says nicola. “there are a lot of drugs in the pipeline and there is potential that we’re going to find a therapy to work for these boys, and some of these have been approved in other countries, but not in canada. it’s really hard as a canadian with a rare disease to hold onto that hope while we wait for approval, knowing that there are boys with duchenne who have access to these drugs in other countries.”

owen (front) with his parents, ed and nicola, and sister, emma. courtesy of nicola worsfold

once the trial in rochester ended, they had to find another one. owen was able to get into a second trial for his mutation, but as children with duchenne grow older and their disease progresses, they become less eligible for many trials. this excludes families whose children are just outside the age limit or are no longer able to walk.in the meantime, canadians get access through the special access programme (sap), which currently works as a stopgap. but that’s not the best solution. patients are essentially living prescription to prescription. every time patients need a repeat on their drug, they must re-apply for special access and get re-approved. because the manufacturer provides the drug, this means there’s a risk of manufacturers running behind on their supply. and if there isn’t enough to tie the patient over, they have to switch to a different steroid, which could affect a patient’s eligibility for a trial or result in a deviation from trial protocol.“it’s bad enough we have to watch our kid slowly deteriorate over time. suddenly, we have to learn how systems and processes work on top of worrying about whether we’ll get access to drugs, whether they’re going to be affordable, if they’re going to get approved, and if they’re going to work. it’s a constant cycle of uncertainty and not knowing what you can do. as a parent, you feel so helpless.”nicola feels fortunate to have experience in the pharmaceutical field which has helped her find the best options for owen. but she knows not all parents have that same foundation, which inspired her and her husband, ed, to form stand for duchenne canada. since then, she’s also joined jesse’s journey to combine efforts and make even more of an impact.currently, there is no rare disease framework in canada. once health canada approves the drugs, there is still the process of reimbursement. even if the drugs are approved, it’s unlikely patients are able to pay out of pocket given how inaccessible the price for specialized rare disease treatments are. the only way to get access is if the drug is approved through provincial formularies, another extensive process.by the time a boy has been diagnosed with duchenne and a new drug is submitted to health canada, approved, and reimbursed, he may not be walking anymore, which means he might not qualify for the drug since one of the criteria is they may have to be walking.“they may completely miss out on that opportunity,” she says. “time is not on our side, we can’t sit and wait for people to write a process or to even make a decision on how to write a process.”nicola knows the only way forward is collaboration between patient organizations, physicians, pharmaceutical companies, and regulators to find the right solutions. in summer 2019, jesse’s journey sat down with health canada and provided data to quantify what it means to live with duchenne and provided suggestions for solutions. health canada seemed receptive and open to improving the lives of those living with duchenne, but as of yet, nicola has yet to see any outcomes.

now 13, owen is still walking on two feet. most children with duchenne are using a wheelchair full-time by the age of 13. nicola believes this may be because he started steroids early, which can prolong the ability to walk, and the fact he participated in clinical trials which may have contributed helped slow down his disease progression.but steroids also stunt growth.for the first time going back to school last year, owen was looking up at his friends instead of looking at eye-level, which nicola understands bothers him. she’s noticed he’s also starting to struggle as he gets older, from not having enough energy to not being able to join his friends in playing sports. he worries about what this means and what his future will be.“we worry too,” she says. “it’s a constant worry of how quickly he’s going to progress and get weaker and when he’s going to stop walking. eventually, everything else is going to stop working properly. typically boys with duchenne pass away because they can’t breathe or their heart gives out. these are the things that we worry about, but we try not to focus on it. we focus on the good things happening now, and less on what’s going to happen in the future. we’re hopeful he’ll live a good life.”