By Sue Tiffin
In November, families and advocates in the Canadian cystic fibrosis community were celebrating news reports that a drug already helping numerous people around the world who have the progressive, life-threatening genetic disease could become available in Canada.
Trikafta, a drug proving to be effective in treating 90 per cent of cases of cystic fibrosis, and which was approved by the U.S. federal drug agency last October, was submitted by manufacturer Vertex Pharmaceuticals for priority review status by Health Canada, which the health agency granted Nov. 16. It now needs to go through an approval process, and also have a price negotiated – it’s listed as costing more than $300,000 US per year – but the sometimes time-consuming approval process starting is life-changing news to more than 4,000 people in Canada living with cystic fibrosis.
Minden resident Ava Smith is one of those people – she knows exactly how much Trikafta can help, because she has been taking it for two years.
In October, 2018, the 16-year-old was one of two patients of SickKids with cystic fibrosis, which largely affects the digestive system and lungs, who were chosen to take part in an eight-month trial. Because it was a double blind study, Smith, as well as the team working with her, did not know if she was taking Trikafta, or the placebo. It became quickly apparent to Smith, her team, and Smith’s family that she was using the medication.
“It was interesting to guess which one I was on, but it was pretty clear after the first three weeks that I was actually on the drug because my lung function improved very quickly,” said Smith. “I wasn’t coughing at all and I felt just generally more energetic, and my results in my pulmonary function test rapidly increased. All of a sudden it just felt easier, in a way.”
Smith said her parents were convinced she was on Trikafta and not the placebo.
“We all knew,” she said. And then, laughing: “We didn’t want to jinx it, but we all knew.”
Smith’s mom, Cheryl Patterson-Smith, agrees that the physical results came quickly, although an official confirmation that Smith was taking Trikafta came months later.
“I just remember Rich [Ava’s dad] and I commenting that we couldn’t remember when we heard her cough, which was unheard of,” she said. “I guess you just spend every day, you sort of get used to it. It just really dawned on us that we hadn’t heard Ava cough in awhile.”
“I’ve done many studies at SickKids, so I just kind of thought it was another regular study, I wasn’t really expecting much,” said Smith. “I wasn’t really nervous, I wasn’t expecting much. But then, wow, was I surprised.”
As part of the study, Smith visits the study team at SickKids every three months, and has phone check-ins every six weeks. Because she was part of the study, she is able to continue taking the medication free of charge for an additional 24 months – as is the other participant, even if they were on the placebo – to help bridge the gap between the study end and the time it might take for the drug to be approved in Canada.
“It truly is a miracle drug,” said Smith.
“Before Trikafta, I actually was going down a bit of a downslope,” she said. “I was getting admitted to the hospital, it was almost twice a year now, for two weeks, basically a tune-up. Those were becoming more common. They weren’t as common as when I was younger but they were starting to get more common. My [pulmonary function tests] were getting lower than they had been before. I just wasn’t feeling the best. But now things are feeling better.”
A tune-up, said Patterson-Smith, involves a two-week stay at the hospital in which cystic fibrosis patients are treated with antibiotics to address the various infections that are always growing inside the lungs of a person with CF.
“Ava hasn’t been on antibiotics for a long, long time, whereas … we permanently had a prescription for antibiotics because she needed to take them so frequently because of the infections that were always growing in her lungs. She hasn’t needed antibiotics for two years now.”
Smith is known throughout the local community as being an active, enthusiastic athlete, and is considered by her SickKids team to be a healthier patient.
“Truthfully, I think there were a lot of people who would have not known that Ava has CF,” said her mom. “She’s never let it stop her from doing anything. She never let it get in her way. At the clinic we always joked that we weren’t sure, the chicken or the egg, was she so healthy because she was so active or was she active because her lungs allowed her to be. We kind of settled that it was a reciprocal relationship.”
Smith’s pulmonary function has never been consistently extremely low.
“There’s a woman in Etobicoke with CF who ran a half marathon or triathlon, this was many, many years ago, when Ava was only about six years old,” said Patterson-Smith. “I remember them showing us that article and saying, this is going to be you, Ava. You’re going to keep your lungs healthy through all your exercise.”
Still, said Patterson-Smith, the statistics for people living with cystic fibrosis can be daunting.
“You just read various statistics, even now, a child born with CF, has only a 50 per cent chance of living to 52, which is the age I turn this year,” she said. “Things like that are very … they sort of make you realize that if this medication can extend, not only improve quality of life but also extend the life expectancy for people with CF, that’s incredible.”
Despite Smith’s care for herself and support from her family, like most people living with CF, she still has breathing therapy every morning and night, and a regimen of vitamins and enzymes, which she continues to adhere to though feeling healthier because of Trikafta.
“The goal is finding some sort of cure for it, which hasn’t been found yet, but this is the first medication that – all the other medications and therapies are trying to rid the bodies of the excess mucus, this is the first medication as I understand it that’s actually addressing the production of the mucus,” said Patterson-Smith. “It really is the closest thing that we’re going to find, but it’s not a cure. It still requires a lot of adherence to the medications and the therapies. Luckily she’s one of those patients that does, even when she’s feeling great, does still do her therapies.”
The family has been in contact with other people who are also benefitting from the drug, including a fellow teenaged girl Smith met at the hospital who is on the list for a lung transplant, and whose lung function has been improving.
A study published by Dalhousie University, which was primarily funded by Cystic Fibrosis Canada, showed that with access to the drug as early as next year, 60 per cent fewer Canadians would be living with severe lung disease, while 19 per cent fewer hospitalizations or home intravenous courses for infections would be happening, and less of a need for lung transplants, as well.
“We’re very fortunate, extremely fortunate, because she’s been on this medication, we’ve seen these [positive] results,” said Patterson-Smith. “It’s so exciting to think that more of the CF population, I think it’s 90 per cent, that the results we’ve seen in Ava could be available to virtually the entire population is unbelievable, it’s so exciting.”
The family is one of many hoping the drug is made available soon, and that the price point is manageable – previous drugs released have been so costly, Patterson-Smith said, she heard of one family that had to get a second mortgage on their house to pay for one year of medication.
Regardless of cost, the drug has been worth it, making Smith’s life better.
“[Ava has always said cystic fibrosis is] not going to stop me from doing anything I want to do. So from that perspective I think she’s still, she’s definitely going to treat things the same way but now it might be a little bit easier,” said Patterson-Smith. “Listening to her talk about how she felt, I do think it has made things easier for her.”
“I just hope that people have as good of results as I’m having with this drug because it’s amazing,” said Smith. “I’m so happy.”