And yet, scientists, the media, and the foundations that fund research consistently promise patients and their families that cures for very serious, lifelong diseases are imminent, or at least "around the corner." For cystic fibrosis, that cure has been pitched as being gene therapy, in which a faulty gene is replaced with a functioning one.Why are we telling our children, our friends, and our family members that we are going to cure them? What is a cure? What does it mean to be cured of a disease that is encoded within your DNA from the moment you become a zygote until the moment you are dead? What does it mean to be cured of a disease that has already, soon after you're born or diagnosed, wreaked havoc on your body? And why are we eschewing or overlooking treatments—real, honest-to-god treatments—that can let patients lead longer, more normal lives?"The idea of a cure is simpler, it's more appealing as a fantasy."
"The people who are sick right now, they want a cure, but they also want services. If I have a thing that disables me, I need help now," Arthur Caplan, a bioethicist at New York University's School of Medicine, told me. "The foundations are trying to figure out 'How much do we spent on services and how much do we spend on gene therapy research to fix the new cases?' That is a constant dilemma for every disease foundation."With the cystic fibrosis gene discovered, a cure seemed within reach, even though little was known about gene therapy. In retrospect, researchers said that gene therapy delivered to the lungs alone would not be enough to "cure" a disease that affects multiple organs.Irish people and people of Irish descent have the highest incidence of cystic fibrosis in the world. Partially for that reason, cystic fibrosis is taught in schools and portrayed in the media as a "lung disease" that primarily affects white people."As the CFF sees 'the cure' for cystic fibrosis as its goal, it concentrates on research almost exclusively and, as a result, patient education and other support services have a low priority"
Better nebulizers have been available in Europe and Canada for years. They weren't approved by the FDA until earlier this year.
Katelin's mom told me that in 1989, when she was 1 year old, her doctors were immediately optimistic about finding a cure. It was only a matter of time. Katelin had been born "at the right time" to take full advantage of this breakthrough.In 1994, the Cystic Fibrosis Foundation sent a mailer to potential donors saying that scientists "now have the key to unlock the final secrets of cystic fibrosis" and said that a cure would take "a few more years." Even Sports Illustrated noted, in a 1993 cover profile of Boomer Esiason (whose son famously has CF), that "scientists were closing in on a cure."In 1994 Discover Magazine wrote that gene therapy seemed uniquely suited to treating cystic fibrosis. The magazine spoke with Ron Crystal, an NIH researcher spearheading the first gene therapy clinical trial."Do I think we're going to have a cure for cystic fibrosis?" Crystal said. "I think we absolutely will. I can't predict when it will happen. I can't predict whether it will be with the systems we envision today. But it will happen.""We were drawn into the simplicity of the concept. You just put the gene in."
"Everybody has to share in the guilt of what's happened here," Abbey Meyers, then-president of the National Organization of Rare Disorders, said at the time. Gene therapy trials all around the country were canceled or put on hold. The rhetoric hailing gene therapy as a miracle cure for any disease was severely toned down. You rarely hear about it anymore, and a Google Trends search shows that the public isn't talking about it anymore, either. Jesse Gelsinger died exactly 10 years to the month after the identification of the cystic fibrosis gene.A "fact sheet" posted on the Cystic Fibrosis Foundation's website in 1990s called gene therapy a "potentially life-saving treatment, which tackles the root cause of CF, rather than the symptoms." The sheet adds that Congress appropriated $40 million to the NIH to establish nine CF gene therapy centers; the CFF committed another $10 million to these efforts. The CFF fact sheet adds that it "continues to support three types of research simultaneously—gene, protein repair, and drug therapies—to find a cure; the cure most likely will combine all three.""By definition, talking about a cure is really inappropriate"
It's true that the CFF has funded some of the most important breakthroughs in fighting the disease. It's also true that the CFF, for the decade between the discovery of the CF gene and Jesse Gelsinger's death, disproportionately placed an emphasis on gene therapy studies that promised a full cure of the disease rather than focusing on treatments that were both extending the lives of CF patients and making their daily lives easier.An annual supply of Kalydeco costs $311,000. The CFF sold its royalty rights for $3.3 billion.
After her treatments, she went to school. Then, some days, she went to work. Other days, she went to rehearsal. When she ate, she had to take between five and seven enzyme pills to help her body digest anything with fat or protein in it. If she forgot them—which she did with some regularity because she was in a rush somewhere, all the time—she couldn't eat. After work or rehearsal, she came home, usually around 10 or 11 PM, and did two more hours of CF maintenance. She was lucky if she could score five hours of sleep a night. No one but her closest friends and, sometimes, her professors, knew she had cystic fibrosis."Everyone I met in the hospital is dead."
Like Katelin, Stokell had to make tough choices about whether to live his life or treat his CF. He took 10 years to get through college because he consistently had to drop classes or take semesters off in order to deal with his health and keep a job at the same time."Having CF is like having a full-time job," he said. "But I've always wanted to do something where I could not only help myself but help others."And so he went into CF research. Even so, he wasn't searching for a cure, though he too was once promised one. Instead, he was researching antibiotic resistance and bacterial genetics so that complications like the pneumonia that developed in Katelin's lungs can be caught earlier and treated before they kill the patient.A "cure" would have saved her, sure, but a cure is aspirational. It's theoretical. It's for people who aren't born yet.