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cystic fibrosis canada ceo: 'our focus is to get trikafta to more people'
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kelly grover is the ceo of cystic fibrosis canada. supplied
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although only about 4,300 canadians are living with it, cystic fibrosis (cf) is the most common fatal genetic disease affecting children and young adults, according to cystic fibrosis canada. half of those who died with cf in the past five years were under the age of 37.
about one in five canadians carries one defective copy of the gene that causes cf, even though they do not have the disease themselves. when a child inherits two defective copies, one from each carrier parent, there’s a 25 per cent chance the child will be born with cf. that child will then go on to have a 50 per cent chance of being a carrier, and a 25 per cent chance he or she will not.
affecting primarily the lungs, pancreas and digestive system, cf symptoms include a persistent cough that produces thick mucus, shortness of breath, frequent chest infections, bowel issues, weight loss and fertility problems. complications include diabetes, osteoporosis, liver disease, difficulty digesting fats and proteins, inability to absorb nutrients, sinus and other infections, and progressive lung damage. there is no cure.
cf is diagnosed via a “sweat test”, which measures a child’s salt content. if it’s higher than usual, they likely have cf. genetic and prenatal testing is also used, as are newborn screenings, which detected nearly 75 per cent of new cases in 2020.
kelly grover, ceo of cystic fibrosis canada, a national charity, sat down with healthing to talk about the organization’s advocacy on behalf of patients and their families, as well as advances in treatments and living well with the disease.
what is the mission of cystic fibrosis canada?
the organization was started in 1960 to improve the health and well-being of people living with cystic fibrosis. we invest in research, we advocate for needed treatment or care, we work with the clinics to identify priorities and ensure that people are getting the best care. we also provide information and support, through webinars and other resources, to ensure people have the information they need to thrive. we also run a registry of all data on almost every person with cf in canada, and we have a clinical trials network. we’re evolving now because the needs are changing.
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what are the needs that are changing?
we now have a drug called trikafta that targets the root cause of the disease, so people are living healthier and longer lives — up to 10 years extra. so the needs are changing because people are not in hospital as much, they can now start families, go to work, think about university, maybe save money for the future.
the drug was approved in canada for eligible patients aged 12 and up in 2021 and expanded to those aged six and up in 2022. in about a year, it will be available for kids aged two and up. if we can get it to them sooner, then the wear and tear of cf on their body won’t be as much. these people are going to have fundamentally different experiences than adults that are living right now.
how effective is trikafta?
it works for about 90 per cent of patients. [for those who don’t respond, traditional treatments include antibiotics to treat or prevent lung infections; inhalers or bronchodilators, anti-inflammatory drugs, pancreatic enzymes]. things are definitely getting better for some, but not for all. the 10 per cent of people who won’t benefit from these new drugs because their mutation won’t respond to it face an emotional burden because they’re seeing other people in their community having significantly different lives.
what are some other challenges people living with cf face?
it’s still a fatal disease, but that will change over time. you may live longer but you’re not looking at age 90. about 50 per cent are getting to their 50s. the new drug is wonderful, but it’s not a cure, and at its list price, costs about $300,000 per patient per year. when [health canada approved] it [in 2022], we lobbied for access across the country, so we had to start at the federal level. then we had to lobby each province and territory to have it funded.
right now, our focus is to continue to get the drug available for more people so we’re pushing at a provincial level to make it more affordable, because drugs are funded provincially. if we needed federal investment in a rare disease strategy, that’s where we would lobby federally.
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what are some of the misconceptions about cystic fibrosis?
people think it’s only a disease of the lungs, but cf can impact any external facing organ. people will have gi issues because the mucus doesn’t clear the lungs. it also traps in the digestive system, so you can’t digest your food as well. people will have sinus infections, or reproductive issues — it is a multi-organ disease and i don’t think people know about that.
how did the pandemic affect the cf community?
people with cf have always lived with a pandemic-like situation. they always had to be away from people with infections, they always had to mask, they always had to wash their hands and clean their environment. so in the beginning, they actually did quite well. they did what you and i had to learn how to do.
so there weren’t any challenges accessing clinics or doctors?
people with cf have specialty clinics that our organization worked to start years ago. there are about 40 clinics across the country and they adapted [to the pandemic] pretty quickly with virtual care. the benefit of that is we discovered we can make virtual care or phone consultations work. and where it’s appropriate to keep those, they will.
is there any breakthrough research you’re excited about?
regardless if they’re on modulators or not, people with cf will continue to get infections, which causes wear and tear on the body, and that’s what beats down the lungs. so i’m really excited that we’re funding a large team grant [to study] infections. we’re also funding research on newer therapies like gene therapy [which is] being tested in our clinical trials.
what do you hope cf looks like in five years?
that people living longer, thriving, living their best lives, and treatments for all. we won’t have them entirely for all, but for more than we have now. it’s pretty extraordinary for the size of the disease and the organization that we have the level of infrastructure we do, with specialty clinics and registry and a clinical trials network.
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we’re really proud of the work we’ve done.
cystic fibrosis canada’s largest fundraiser, walk to make cystic fibrosis history, is happening both in-person and virtually in locations across canada on may 28. click on the link for more information and to donate.
robin roberts is a vancouver-based writer.
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