Over the next 13 hours, transplant teams removed the lungs from a donor, prepped Ashley for surgery, and wheeled her into the operating room. It was just before 5 p.m. Her mother and father (who divorced 18 years ago) waited in the ICU. Inside the OR, nearly a dozen physicians and nurses assisted Dr. Marc de Perrot, the thoracic surgeon who performed the procedure. He began by taking out the first CF-infected lung that had become bumpy and stiff, and put in the soft, healthy one. For one tense minute, Ashley went into cardiac arrest, but recovered with the aid of a heart-lung machine. De Perrot replaced the second lung, and then, punched roughly 60 staples under her breasts. The operation took almost eight hours.
When word came that Ashley was nearly out of surgery, Donelle sat on the ledge of a window facing the elevators and stared. “Sure enough, around 12:30 a.m., those doors flew open, and out [came] Ashley on a stretcher,” says Donelle. “I could barely see her. There were four or five doctors following the bed. There were tubes and wires everywhere.” But it didn’t matter, Donelle thought. “She’s alive.” It was Nov. 8, she says, “her new birthday.”
To see Ashley today, you’d never know she had CF or a double-lung transplant. Unless, of course, she showed you the scars. Or the dozens of anti-rejections pills, enzymes, vitamins and other drugs she takes daily. Or the thermometer and scale she uses to check for a fever and weight loss, two early signs of rejection. Or the machine she puffs into twice a day to gauge her lung function. “I’m at 90 per cent,” she says, several months after transplant. “I’ve never had that. This is the first summer in my life I haven’t had trouble breathing.”
That’s taken some getting used to. “I had to train my brain that my body wasn’t sick anymore,” she says. For months after surgery, she was afraid to exert herself. She parked near the doors of whatever building she was going to, forgetting she could walk for blocks now. The psychological adjustment has run parallel to the physical trauma of recovery, which has included physiotherapy to build up her strength.
While Ashley adjusts to her new reality, there is a growing campaign to catch CF early through newborn screening for the gene. Several provinces such as Ontario, Saskatchewan, B.C. and Alberta already have such programs, as does the U.S., France and the U.K. Unfortunately, most patients, usually children, are misdiagnosed with asthma or bronchitis before CF is recognized, and by then they’ve already been hospitalized at least once, and experienced poor growth and lung damage.
Scientists now know that there are more than 1,600 mutations that can cause CF. Given that, gene therapy research has mostly shifted from replacing the bad gene to drug treatments that work on the underlying defects instead. Doctors now take a more aggressive approach to eradicating lung infections early with new antibiotic combinations and inhaled meds. There’s more focus on a high-fat diet to prevent the inadequate growth that used to be the hallmark of CF patients. Even better, life expectancy has increased by about one year every year over the last decade—to a median age of survival of 47 in Canada.
But given the long, bumpy road it’s taken scientists to get to this stage, no one is willing to talk about a cure. “I would rather talk about control of the disease because this is a more realistic view,” says Dr. Felix Ratjen, head of CF clinical research at the Hospital for Sick Children in Toronto. “Cure means a one-time hit where you do something and everything is going to be turned back. This is unlikely.”
In another 20 years, Collins says, “I’m optimistic enough to say that it will be a story about a disease conquered,” but what that means isn’t clear. “I do think at that point this will not be a disease that seems so scary and threatening as it has for centuries.”
Today, CF patients around the world, including in Canada, are participating in clinical trials for two pills that could be on the market within a few years that activate alternate cellular channels to compensate for the abnormal ones in CF patients. Early results make scientists such as Ratjen, who is leading a Canadian study of another possible CF drug, “very optimistic that they will make a difference in the way we treat CF patients.”
For now, Ashley is going back to McGill University full-time in September to finish the psychology degree she was too sick to complete a couple of years ago. She goes to the gym up to four times a week and runs on the treadmill. “My legs get tired before I ever run out of breath,” Ashley laughs. She plans on working, attaining her master’s, eventually getting married, and “being Leila’s mom for as long as possible.” Transplant isn’t a perfect cure, but it’s good enough. “If the transplant doesn’t work out, at least Leila knows that I fought, I tried to be with her.”
A few weeks ago, Ashley finally managed to send a personal letter of appreciation to the donor family. “They gave me my life back,” she says. On second thought, she adds, “They gave me a better life than I ever had.” Ashley says the gratitude she feels is indescribable. “There is no word big enough for that.” A sigh of relief—one deep breath—says it all.
