Surviving cystic fibrosis - Macleans.ca
 

Surviving cystic fibrosis

The genetic revolution didn’t save her. That took a double-lung transplant.


 

Roger Lemoyne/ Denise Grant/ Maclean's archives

Anyone driving along Highway 401 west to Toronto from Montreal on Oct. 6 would never have known Caroline Donelle had turned her red Honda Civic into a hospital room on wheels. In the trunk were five oxygen tanks and stashes of painkillers. Donelle kept thinking, please don’t let anyone rear-end me.

In the backseat was her daughter, Ashley, then 24, shrouded in a thick comforter, pillows and tubes, wafting in and out of consciousness. Diagnosed with cystic fibrosis as a baby, Ashley had defied expectations—reaching adulthood, attending university, travelling, even having a daughter, Leila.

Now though, her lungs were clogged and damaged with thick mucous, and her lung function was at an all-time low of 11 per cent. “I knew, I could feel it,” recalled Ashley recently from her apartment just outside of Montreal, “I was dying. I wasn’t coming out of it.”

A double-lung transplant is the only hope for CF patients who get as sick as Ashley was, and that procedure comes with a whole new set of complications and risks, including death. Ashley, who had been in and out of hospital for months as doctors tried unsuccessfully to get her disease under control, had been approved to have the surgery in Toronto, where wait times are shorter.

But just before she was supposed to leave Montreal for a preoperative assessment, Ashley took a serious turn for the worse. Doctors urged mother and daughter to re-book the appointment. They refused. Instead, Donelle packed up her car and, against medical advice, had Ashley released from the hospital. “I didn’t want her to miss this chance to get saved,” Donelle says, sitting across from Ashley at the kitchen table. “We had nothing to lose and everything to gain.”

Today, several months after her double-lung transplant, Ashley barely recalls the six-hour trip to Toronto, never mind the weeks before and after surgery. “I think it’s because I was oxygen-deprived, ” she half-jokes. Her mother, on the other hand, can’t shake the memory. “I remember that drive well,” Donelle says, “because I was scared. I’d occasionally reach back to feel if she was still warm.”

No one could have foreseen this future when Ashley appeared on the cover of Maclean’s in mid-July 1991 as a six-year-old astride her bike, smiling. “A genetic revolution” was written in bright-white type. “Why Ashley Dyer hopes to survive cystic fibrosis. The promise of new ways to treat fatal diseases.” Researchers had identified the gene responsible for CF, and the scientific community was ecstatic, certain even, that soon the disease would be annihilated.

Unfortunately, 19 years later, there is still no cure for CF. “There never was a genetic revolution,” says Donelle matter-of-factly. “Despite all the medical advances that have been made, there’s still no fix,” adds Ashley. “Even the transplant is only going to buy me time. I’m happy to have the time. If I live another 20 years, I’d be thrilled. If in two years I need another transplant, we’ll cross that bridge when we get there. But the fact that this illness is still there, it’s just an awful thing.”

That CF hasn’t been cured since Ashley became the de facto cover girl for the disease is not for lack of trying. Early on, scientists believed that gene therapy would solve the problem. The basic idea was to inject a good copy of the CF gene into a virus, which would then transfer it to the lungs. “Then presto, you have a cure,” says Dr. Francis Collins, one of the co-discoverers of the CF gene. Now, as the director of the National Institutes of Health, the federal biomedical research agency in the U.S., Collins looks back and says, “We were pretty naive.”

The hitch was twofold, Collins says. Gene therapy wasn’t very efficient; every cell needed to be replaced in the lung, but scientists couldn’t figure out how to make that happen. What’s more, the immune system proved too good at its job of fighting viruses—after a few days or weeks of gene therapy, it would wipe out the virus containing the good genetic information. All that trial and error, however, wasn’t for nothing. “It’s taken a lot of painstaking research in biochemistry, cell biology, physiology—real basic science,” says Collins, to “now really understand what this gene does, and what’s wrong with it in cystic fibrosis.”

While researchers were learning more about the disease, so too were Ashley and her family. The day she was born, March 14, 1985, doctors realized that Ashley’s intestines were blocked (an early sign of CF) and immediately performed open-bowel surgery. Within 10 days, Donelle and Ashley’s father, Stephen Dyer, were given the diagnosis. “We didn’t know what the hell CF was,” Donelle recalls. “We were thinking wheelchairs. So we went to the library—the books were all from the 1960s—and they said that babies with CF live to be two. I was bawling my eyes out.” In reality, the prognosis was much better—but not great. When Ashley first appeared in Maclean’s, the story noted that “CF usually kills its victims before they reach their 30s.”

Ashley’s treatment over the years was typical for CF patients: daily physiotherapy to loosen the mucous in her lungs, therapeutic breathing masks, and dozens of pills including vitamins and enzymes to support the pancreas and intestines, which CF prevents from properly digesting foods and absorbing fat and nutrients. None of this kept Ashley from enjoying what she says was an otherwise normal, happy youth spent swimming, playing soccer at recess, hanging out with friends in high school, and doing a university exchange to Australia for three months.

But a few times a year, Ashley would wind up in the hospital for two or three weeks on a course of IV antibiotics. Bacteria called pseudomonas would stick to the mucous in her lungs and grow, which made breathing hard. “If you put the mucous in a cup and turn it upside down, it wouldn’t come [out],” explains Dr. Larry Lands, director of the cystic fibrosis clinic at the Montreal Children’s Hospital, and one of Ashley’s physicians since she was 14. At 18, she had her gallbladder removed. At 20, she had a life-threatening blood clot in her lungs. More recently, doctors had taken to sticking a needle in her back to drain the fluid in her lungs. “My pain tolerance is unbelievable,” says Ashley.

Until last year, no matter how ill she became, Ashley always bounced back. “I was in denial for many years about the outcome of CF. I thought, maybe I’m the one in a million that this doesn’t apply to,” she says, referring to the likelihood of dying at a young age.

Cystic fibrosis began to get the best of Ashley last spring, however, when course after course of antibiotics couldn’t clear her infections—since late adolescence she had become increasingly resistant to the drugs. Her lung function kept dropping, from 35 per cent, to 30, to 25. Further complicating the situation was the fact that Ashley was expecting her second child with her boyfriend and Leila’s father (the relationship has since ended). More and more CF patients are having children, despite the infertility that’s haunted previous generations. Better management of CF, and the use of in vitro fertilization, have helped.

In Ashley’s case, she had a natural, healthy first pregnancy and carried her daughter Leila to full term. (Although Leila has one copy of the CF gene, it’s a recessive disease, so a second copy from her father would have been required for her to have CF.) This time, Ashley had been hoping for a son. But as she became critically ill, her body couldn’t cope, and Ashley lost the baby.

By mid-summer, doctors said her only option was a double-lung transplant. Half of lung recipients are alive five years after transplant, but CF patients can survive twice as long or more because, like Ashley, they are usually young. In fact, without those CF-infected lungs, recipients such as Ashley will never die of the disease. While bacteria may still live in their sinuses, and the pancreas and intestines continue to malfunction, the DNA in the new lungs are free of CF.

Knowing this, Ashley and Donelle made that fateful drive to Toronto. At first, Ashley was no better for it. Three days after arriving, she was put in ICU at St. Michael’s Hospital, famous for its CF care, and her family and friends rushed to say goodbye. She was depressed when conscious and in physical agony. But Ashley, whose kitchen bulletin board features a postcard that reads, “Never, never, never give up,” rebounded, partly because of a new antibiotic. The transplant unit put her on the wait list. Within two weeks, she received a call in the night, from Toronto General Hospital a few blocks away, that new lungs were available. Ashley was so excited, “I was hyperventilating,” she says.

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.


 

Surviving cystic fibrosis

  1. This is an awful disease, and it is great to hear a story about a survivor. I wish there were more.

    • There are many survivors. There are many young Canadians survivng with CF every day. I know, I have a 16 year old daughter with CF. She lives each and every day not knowing but not giving up. She lives life with vim and vigor. Although CF is a horrible disease, she has been the best thing in my life and given me so much joy. People with CF have very little external signs and you often don't know they have CF unless they tell you. They often battle the disease in silence every day. But with more stories like this one, people living with CF will know they aren't alone and many people are there to help them. They can live with hope.

  2. I love a good CF success story. To all the doctors, nurses, researchers, organ donors, CF parents with fight and CF warriors who fight everyday for health, you are all my heroes. Thanks for giving me hope for my daughter's future. Our lives are greatly improved by the treatments and hope you give us.

  3. Reading Ashley's story brought back déjà vu of another young lady that we know well. Melanie is a 27 year old dynamo who is pursuing her dream to be a veterinarian and was married earlier this summer. She spoke with such passion and bravery at our press conference that I do not think that there was a dry eye in the building. She too had a close encounter not unlike Ashley's, except in Melanie's case her rescue was our new technology, bioFILM PA™, a test that helps doctors choose the best antibiotics for biofilm infections, which is typical in cystic fibrosis lung disease. Melanie believes that our test saves her life.
    Unfortunately, health care practitioners are bombarded by mountains of information on a daily basis, making it difficult for new and important technologies to be adequately assessed. Cystic fibrosis patients can play an important role by bringing new technologies to the attention of their doctors and determining jointly if it is right for them.
    Best wishes Ashley and Melanie
    Ken Boutilier
    President, Innovotech Inc.

  4. As a father of two young daughters with CF I became quite emotional reading this story. So much has been accomplished and we have so much hope for the future but I hate to imagine my girls having to deal with the pain Ashley encountered. All the best to you & your family Ashley!!

  5. Wishing you many years of "deep breathing" Ashley.

    I echo deeply the words of canadiancfmom as I have witnessed the courage and commitment of so many people who have assisted the young lady in my world who is challenged by CF every day.

    To each and every one of you – You are heroes every day of the week –

  6. To anyone healthy enough to be a potential donor: Please talk to your loved ones about your wishes to donate organs, should that awful opportunity arise. A signature on a driver's license is not helpful if your loved ones are not already aware of your wishes. Please: have that conversation.

    Way to go, Ashley. I have no doubt you'll make the best of this gift. Donelle, your devotion to your daughter has led to this possibility: congratulations. Your granddaughter's gratitude should give you a satisfied sigh of relief.

  7. This story also reminds me of another brave young woman with CF named Eva Markvoort. May she rest in peace now.

  8. This article is defiantely well written. Ashley i wish you all the best of luck in the near future. You are such a brave soul and i am so glad to hear you never gave up. You have a strong mother to be able to go through that with you. I know i will make sure everyone knows that i want to Donate my organs for when the time comes. Your in my prayers!

  9. A wonderful, well-written article. I have followed your story, Ashley, through my daughter, Laura and it gives me goosebumps knowing all that you have been through. Leila will be strong like her Mom. May you have many years of 'breathing easy' and good luck with your studies at McGill.

    • Thanks to everybody for the positive feedback! Sue, Laura has told me you ask about me, thank you for your concern andd interest and for all thee well wishes! I really hope that this article gets even one person to sign their donar card!

      • Hey Ashley, I dont know if you remember your years at Eglinton P.S. but its me Yalda. Me and the girls always talk about you and we’ve been wondering what became of you. I was so happy when I found this article I knew it had to be you. I dont know if your going to check this as you posted that reply a year ago. But we would love to see you and catch up. Let me know if you get this and we can take it from there.
        Your old friend
        Yalda

        • Yaldah? I’m Ashley’s mom. I think I remember you.

  10. In 1969, when I was 8 years old, I lost my best friend to CF. I have been waiting and praying for the medical advances that will bring a complete cure for this disease. After 40 years of praying I have not given up. I will not stop now. Ashley, you are on my list.

  11. It is wonderful to hear that CF patients are living longer with new treatments. My cousin Steve, had CF, died 15 years ago. Lung transplants were in their infancy back then. Unfortunelty he wasn't a candidate either. My heart to goes out to families that struggle with the disease. News articles like this keep the need for funding on society's mind. So Ashley thank you for giving all that you have for CF patients, it can't be easy to have the disease and expose your life to the public.

  12. Ashley I wish you and your family all the best with your knew set of lungs as your knew journey of life begins. This brings back many thoughts, as my sister inlaw is one very lucky lady like yourselve. She has been able to live a normal life for the last couple of years thanks to a double lung transplant for CF. Thanks to all the wonderful doctors, nurses and most important donors.

  13. I read this story with Kleenex in hand, as it so closely mirrored our 22-yr. old son Donovan's battle with CF and eventual transplant. He will celebrate his second chance in just a few days–Sept. 13. We, too, had that nightmarish drive to a transplant center (Edmonton), and while in the ICU, Donovan was placed on the wait-list. Just two days afterward, as our son was being placed on life-support as even the respirator was failing to help him oxygenate his blood, lungs became available!!! Our miracle became a reality!!! I so relate to Ms. Donelle's thoughts at seeing her beloved daughter on the stretcher after surgery! We cannot stop thanking our donor family, who in the midst of unspeakable loss, has the courage to donate their loved one's organs. Donovan now runs a 23 min 5k race, and will compete in the next Transplant Games. And we, his parents, just can't stop smiling!!! We lost a brother in law to this terrible disease when Donovan was an infant. He would have been only Canada's second double lung transplant, but died in Toronto General Hospital waiting for organs. It was so fitting to his memory that Donovan have a different fate….the chance to live out his dreams. Sign your donor cards….and give generously to CF research….and, as both Ashley and Donovan would say (since it is his life's motto as well), Never, never, never quit!!!

  14. Having come to know a friend who told me she had cystic fibrosis, I was so excited when I learned about the possibility of gene therapy becoming a potential cure for CF and many other disorders. I have dedicated myself to that. I am majoring in Molecular Biology with hopes of continuing my education until I can do the most work possible to help the progress.
    The only thing I'm considering now is the light this article seems to shed on gene therapy. I don't think a race for a cure should be discarded, although it sounds like most doctors have given up hope of a genetic cure. I think we are closer than that. I am happy that transplants can happen so well, but let's not give up until the disease can be eliminated soon after it's diagnosis. I will spend my entire life in that cause.

    • Love to hear from people like you Doug! Thanks for keeping hope alive.

  15. A wonderful outcome!! Thx for the inspiration from one who understands the surgery if not personally the illness.