The CF Community and Canada's Rare Disease Strategy - 2022
After a long wait, in June 2021 the cystic fibrosis community celebrated a huge victory. Health Canada had approved a new “miracle drug” called Trikafta.
Cystic fibrosis is a progressive, genetic disease that is caused by mutations in the CFTR gene. The symptoms range in severity, but generally include a cough with thick mucus, shortness of breath, chest infections, bowel disturbances, failure to gain weight, and salty tasting sweat. The average life expectancy for individuals in Canada with cystic fibrosis is 54 years old.
Trikafta has shown life-changing benefits for those living with cystic fibrosis, slowing the progression of the disease and significantly easing symptoms within weeks or even days of starting the medication. With Trikafta access, the estimated lifespan for a child born with CF increases by about 9 years. CF-related deaths in Canada will potentially drop by 15% over a decade. The cystic fibrosis community celebrated Trikafta’s approval and articles about families’ relief and excitement were published across the country.
But Trikafta had been approved for individuals 12+ in the U.S. in 2019 and in Europe in 2020. Canada had lagged behind. In addition to the slower Health Canada approval, issues with both restrictive criteria from drug review bodies and the processes of public and private payers still kept some individuals from accessing Trikafta. With a disease like cystic fibrosis, time is of the essence. Why has it taken so long to get the medication to those who need it? How can Canada do better and relieve CF patients from having to advocate for themselves and their community?
One issue might be that Canada is one of a few developed nations without a national rare disease framework. According to the Canadian Organization for Rare Disorders (CORD), “Right now, only 60% of treatments for rare disorders make it into Canada and most get approved up to six years later than in the USA and Europe.”
Jurisdictions like the U.S, the EU, Japan, and Australia have had orphan drug frameworks for over twenty years. Canada having a rare disease strategy would improve access to drugs for rare diseases and ensure that access is consistent in every province and territory. The federal government has said it will invest up to $1 billion, beginning in 2022, to develop a strategy. But details have not been released.
A rare disease strategy would create a consistent definition of rare diseases, and ideally a framework to address problems with access, which can vary depending on the drug plan and the province. A rare disease strategy could also result in a coordinating body for evidence-based decisions on topics like pricing.
Members of the cystic fibrosis community are navigating a complex, disjointed system in order to access and afford the medication they need to live. The mental load on CF patients is enormous. When the next cystic fibrosis medical breakthrough occurs, a rare disease strategy in place may lift that burden.
Twin brothers Arash (l) and Siavash (“Sia”) Sorkhabi, 38, were diagnosed with cystic fibrosis at age four. Born in Tehran, Iran, they now live together in downtown Toronto. They both moved here to join their sister and receive better cystic fibrosis care.
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Sia opens the medication cabinet in the kitchen of the condo he shares with Arash. With cystic fibrosis, thick mucus that fills the lungs also keeps the pancreas from releasing enzymes that the body needs to digest food. In addition to other medications and treatments, most individuals with CF must take enzymes with their meals to make up for this pancreatic insufficiency.
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Sia and Arash gained free access to Trikafta through compassionate care from Vertex Pharmaceuticals, the company that makes the drug. The medication has been life-changing for the two brothers. They have increased lung function and no longer have to endure frequent hospitalizations. They are both involved in the CF community and have advocated for widespread Trikafta access for years. “There is no cure for CF patients, but so far the best drug to improve lifestyles has been Trikafta”, says Arash.
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Jacob Jaramillo, 34, co-founded the patient-advocacy group CF Get Loud. For years, the group has been advocating for all individuals to have access to Trikafta immediately. Jacob was diagnosed with cystic fibrosis at age 8. Having a degenerative disorder means an uncertain future, he says. “I don’t think a lot of young people allow themselves to want”. A bad infection in 2019 left Jacob very sick for several months, until a “guardian angel” in the United States sent him Trikafta before it was approved in Canada. Within a week Jacob’s health improved.
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Before gaining access to Trikafta, Jacob had had to stop golfing and working as a cook because of his declining health. Once he began taking the medication he was able to return to these two passions. He is no longer short of breath and his energy levels are off the charts. The changes in his abilities have many positive effects on his life. Being able to contribute as a husband by performing tasks like taking out the garbage is important to him. Trikafta has “awoken so many layers”, he says. His experience with the medication was what ignited his passion for Trikafta advocacy.
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In early 2020, there was a lot of talk in the CF community about the possibility of Trikafta never even coming to Canada. Jeff Allen, 47, says he felt so disheartened during that period, wondering if he would ever have access. He has now been receiving Trikafta for free through the HomeCare program at Ontario Drug Benefit Program (ODB) since December 2021, because of having a portacath. Jeff had to “duke it out” with his private insurer to ensure that he has their coverage as a backup plan. If he ever has his port removed he will not be eligible for the HomeCare program.
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Jeff demonstrates a percussive device that he used to use to loosen up the thick mucus in his lungs caused by cystic fibrosis. Since starting Trikafta, he doesn’t have much need for the device anymore and plans on selling it.
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Clara Rempel-Segal, 6, does positive expiratory pressure (PEP) therapy as part of her morning treatments, while her mother Shauna looks on. PEP devices help air get behind the thick mucus that cystic fibrosis causes and move it from lung and airway walls. Clara’s lungs are already showing signs of scarring, which is not unusual for children her age who have the disease. And more time means more scarring.
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Clara’s mother Shauna administers manual percussion physiotherapy while Clara watches cartoons. This treatment helps to loosen the thick mucus that resides within her lungs. In July 2022, Ontario became the first province to fund Trikafta for individuals aged 6+ who have at least one F508del gene mutation. During the wait for this news, Clara’s parents were guarded in their optimism, aware that public and private payers had to agree to cover the medication. In the meantime, Shauna hoped that Clara wouldn’t develop a chest infection or other dangerous symptoms caused by cystic fibrosis.
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Debra Mattson, 51, began taking Trikafta in May 2022, four months after her cystic fibrosis clinic informed her that she could begin the application process. After being given this go-ahead, Debra went through months of convoluted back-and-forth communication with 10 different people at the CF clinic, her insurance company, and Vertex Pharmaceuticals. On top of that, the Trikafta hype had been so built up over the years of waiting that Debra was experiencing high levels of anxiety. Debra is so far thrilled with the effects of Trikafta on her health, but 30 years of cystic fibrosis advocacy has made her “tired."
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