Marie-Pier Emery holds her three-week-old daughter, Flore Emery-Joanisse on Feb. 24 in Montreal. Emery, who has cystic fibrosis, credits a new drug to treat the disease for allowing her to conceive a child.Bernard Brault/The Globe and Mail
Marie-Pier Emery dared not dream of a baby.
She knew that women with her genetic disease, cystic fibrosis, struggled to conceive. She also knew that, although CF patients are living longer than ever, they rarely lived long enough to see their children grow up.
“Am I going to bring a child into this world that I’m not going to be able to take care of in the long term?” Ms. Emery wondered. “That was always a big thing for me.”
Ms. Emery is now 32 and a new mother to a healthy baby girl, Flore, born on Feb. 3. The Montreal lawyer attributes her ability to conceive and carry a child to Trikafta, a drug that is remaking the lives of patients with cystic fibrosis, a disease that a memorable television ad once likened to “drowning on the inside.”
The boom in babies born to women with CF is just one of the changes doctors have observed since Health Canada approved Trikafta in June of 2021. The number of hospital admissions for severe lung infections fell by a third between 2019 and 2021, while lung and other organ transplants declined by more than 60 per cent in the same period, according to a new report released Tuesday by Cystic Fibrosis Canada with data from the Canadian Cystic Fibrosis Registry, which meticulously tracks the health of more than 4,300 Canadians with the inherited illness.
Twelve Canadians with CF were removed from active transplant waiting lists as of the end of 2021, the report notes – an outcome unheard of before the new medication.
Trikafta is so altering the course of cystic fibrosis that it has provoked an “existential crisis” for some patients, said Anne Stephenson, medical director of the patient registry and a respirologist and clinician-scientist at Toronto’s St. Michael’s hospital, home to the largest adult CF clinic in Canada.
Patients who grew up wondering whether they would live past their 30th birthdays are now rethinking their choices, she said. Should they have pursued higher education? Invested in RRSPs? Tried to have children? A new lease on life is undoubtedly a good thing, Dr. Stephenson added, “but for some patients it has been a bit of an emotional roller coaster.”
Harder still is the plight of those who can’t get Trikafta, either because they are among the 10 per cent of CF patients whose rare genetic mutations make them ineligible for the drug, or because they can’t afford even a fraction of its sticker price of just over $300,000 per year. Every province and territory covers most or all of the cost of the drug, as do most private insurers, but some plans have hefty copays or lifetime caps that make Trikafta difficult to afford.
Cystic fibrosis is an inherited disease in which the most common genetic mutation causes a critical protein to malfunction, filling some organs with a thick, sticky mucus. The sticky mucus disrupts all kinds of bodily functions. It makes the digestive system less capable of absorbing nutrients, coats the cervix of female patients, blocking most sperm, and clogs patients’ lungs, causing relentless coughs, severe chest infections and, eventually, death.
Trikafta is a combination of three chemical compounds that together make the faulty protein work better. The triple therapy is not a cure or a correction of the genetic defect that causes CF, and it can’t erase a lifetime of lung damage in older patients.
At long last I can breathe deeply, despite my cystic fibrosis
But it is making a dramatic difference in the health of most who take it, according to CF doctors.
Mark Chilvers, director of the CF clinic at BC Children’s Hospital, said breaking the news of a CF diagnosis to parents used to be, “like pulling out the pin in a hand grenade. Their whole world blows up when they’re told they’ve got a baby with a devastating, life-limiting illness.”
Now, as long the child has at least one copy of the F508del mutation that makes them eligible for Trikafta when they turn six, he tells parents, “there’s a lot of light at the end of the tunnel.”
Rina Pinsky, 24, began to feel better just a few days after starting Trikafta through a special program in February of 2020.
As the medication thinned the sticky mucus in her cells, she coughed up most of the gunk clogging her lungs, began to breathe easier and stopped coughing. Nausea, her constant companion, disappeared. Within a week, she felt an unfamiliar pang: Hunger. Always rail thin, she gained nearly 20 pounds in a matter of months.
The transplant clinic that had been monitoring Ms. Pinsky since she was a teenager officially discharged her six months ago. Before Trikafta, she said, “it was just, take care of my soul, live as much as I can. I don’t have a lot of time.” Now Ms. Pinsky imagines having a job, a marriage, even children.
The reduction in transplants is one of the most encouraging findings in Cystic Fibrosis Canada’s new report. In 2021, 22 Canadian CF patients received transplants, down from 57 in 2019 and 61 in 2018. (Twenty-six CF patients received new organs in 2020, most of them lungs, but the first year of the pandemic is an anomaly because transplant programs were shut down for part of the year.)
Although the new report is the first to capture the broader impact of Trikafta in Canada, it tells only part of the story because it contains data up to 2021, when just under 1,000 patients, or one quarter of the Canadian CF population, had access to the medication.
Today, says Brad Quon, director of the adult CF clinic at St. Paul’s Hospital in Vancouver, the only CF patients he knows of who are active on the transplant waiting list are those whose genetic mutations make them ineligible for Trikafta.
Dr. Quon has taken note of the Trikafta baby boomlet, at least anecdotally. The Canadian Cystic Fibrosis Registry doesn’t publish pregnancy statistics, but there is no reason to think Canada would be any different from the United States, where Trikafta was approved in October of 2019. The U.S. registry recorded 675 pregnancies in women with CF in 2021, up from 309 in 2019.
Ms. Emery, the Montreal lawyer, became pregnant six months after starting the medication. Although her pregnancy was difficult, she had the strength and lung capacity to push for three hours during her delivery. “My body was able to do it,” she said. “We were all in shock and emotional about it.”