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The Cure Culture

I'm not mad that my best friend died from a serious genetic disease. I'm mad society told her she would be cured.

by Jason Koebler
Jul 13 2015, 9:00am

The understanding was that she would live. This was not just the understanding we had, as she clicked "attending" on a Facebook invite to a skiing cabin in January while sitting in a hospital bed in November, but the implicit contract agreed upon between society and her. Take care of yourself, and we will fix you.

It's what nearly every news article, every scientific study, even the genetics textbook I had in 11th grade told her. And then there was the fact that Katelin was a badass who never lost at much of anything. You don't try on graduation gowns in the intensive care unit if you're planning on dying before you get the chance to walk. Hell, you don't spend years in college if you're planning on dying before you can use that diploma for anything.

But Katelin did die, and thousands of others have died, too. Thousands more will die. Cystic fibrosis is a genetic disease that damages many of the body's organs but primarily affects the lungs and pancreas, making it hard to breathe and hard to digest food. The treatments we use to make it easier to breathe and easier to keep on weight turn the body into a fragile ecosystem susceptible to bacterial infections, diabetes, and a host of other potentially fatal complications.

Cystic fibrosis is and always has been an incurable disease. There is no cure. The cure is a lie. There is no cure.

There is no cure for cystic fibrosis. There is no cure for cancer. There is no cure for diabetes. There is no cure for HIV. There is no cure for Tay-sachs or Huntington's disease or ALS.

"The idea of a cure is simpler, it's more appealing as a fantasy."

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?

After Katelin died, people told me—somewhat insensitively, I thought—that they had heard cystic fibrosis patients live to be 40 or 50 these days. That is often true, but it wasn't true for Katelin, and it's not true for lots of other people. It is true, however, that it is preferable to have cystic fibrosis, or HIV, or diabetes, or many forms of cancer today than it was to have them half a century ago.

But still, we promise patients a cure, not simply treatment. And in doing so, we often misallocate funds to moonshot ideas that, scientifically, don't make as much sense as merely trying to improve the treatments we already have.

"We convert diseases into being less mortal," Chris Feudtner, an epidemiologist and ethicist at the Children's Hospital of Philadelphia, told me. "But the idea of a cure is simpler, it's more appealing as a fantasy. It's alluring. What's more curious and interesting is, why do we constantly think we're going to cure things when that never, ever seems to happen?"

Feudtner points to the development of injectable insulin, which was a complete game changer—but not a cure—for people with diabetes. Feudtner wrote a history of diabetes called Bittersweet: Diabetes, Insulin, and the Transformation of Illness, a book exploring why the discovery of insulin, which was "hands down one of the most important medical discoveries of the 20th century," is taken for granted now.

"We have examples of dramatic breakthroughs that are never as complete as people fantasize," Feudtner, who works with families of chronically ill children, said. "We cure infectious diseases. We don't cure cancer, we put it into long-term remission, but we don't cure it. If you are cured of cancer, you are probably living with some other problems. We substituted one problem for another."

I repeatedly wondered over the course of the 11 years I knew her whether all this talk of a cure does more harm to patients and their families than good. Whether people die "waiting" for a cure instead of simply enjoying the time they have. After she died, I wondered why I couldn't come to terms with this specific aspect of loving someone with a chronic, lifelong disease. I am not mad that she died. I am mad that society told me she would live.

In the early 1990s, the press regularly wrote that a cure for cystic fibrosis seemed imminent. Time magazine wrote that doctors were "closing in on a cure"; the LA Times quoted a doctor who essentially said the disease would be cured as soon as clinical trials of a new drug were completed. None of these predictions have ever come even remotely close to being true, and there's little evidence that we are going to have a true "cure" anytime soon.

Over the course of my reporting, I found that the politics, economics, and science of this cure culture we've created is a woefully understudied topic. And so, I've tried to understand it as best as I can through the lens of Katelin's life.

***

Illustration: Rebekka Dunlap

Cystic fibrosis is a recessive genetic disease that affects roughly 30,000 Americans and thousands more around the world.

The disease is caused by a faulty gene that encodes a faulty protein that regulates salt movement through cells. The defect makes mucus especially thick. This leads to a buildup of mucus in a patient's lungs, which they then have trouble clearing out of their airways. It makes breathing especially difficult and makes patients susceptible to bronchitis, pneumonia, and other respiratory illnesses.

It's also a pancreatic disease that prevents the body from breaking down certain types of enzymes. CF patients have to eat a lot and often have trouble keeping on weight. The pancreas often scars, leading to insulin deficiency. That problem is exacerbated by the fact that people with CF have to eat so many calories and so much sugar simply to maintain their weight. More than 40 percent of CF patients who live past 30 develop Cystic Fibrosis-related diabetes.

Because it affects a relatively small number of people, it's considered an "orphan disease." There is, or was, little incentive for pharmaceutical companies to fund research into treatments or cures, because the perceived customer base is relatively small, compared to a disease like diabetes, which affects more than 20 million people in the United States alone.

But cystic fibrosis has in recent years become different from most orphan diseases. The Cystic Fibrosis Foundation, founded in 1955, has become one of the most successful nonprofit organizations in the country. Throughout the years, it has successfully lobbied Congress for research funding and has also actively paid pharmaceutical companies and universities to put manpower behind CF research efforts.

The discovery of the gene that causes cystic fibrosis in the late 1980s started a flurry of new research into the then-futuristic idea of gene therapy. Research funding was reallocated from developing new drugs to treat the disease and was instead poured into developing what was seen as an imminent cure.

"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"

"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.

Both of these narratives are strategic oversimplifications. Princeton University medical historian Keith Wailoo says these narratives were conscious pushes made by cystic fibrosis advocates in the 1980s for socioeconomic and political reasons. The troubled thinking was that white people would want to cure a disease that affected white people, and that white people have more money to pour into research. CF was a cause that was even taken up by the National Socialist White People's Party (the American Nazis).

"In the 1970s ... researchers who drew attention to cystic fibrosis had stressed its panethnic identity, its reach across many groups, and its incidence among black as well as white Americans, in order to encourage a broader cultural investment in the disease," Wailoo wrote in The Troubled Dream of Genetic Medicine.

"Increasingly in the 1980s, researchers and the mass media signaled to their readers that CF should be understood as a white person's disorder," Wailoo added. "This association with whiteness and cystic fibrosis with the new capital-intensive gene therapy is no coincidence. To highlight the 'whiteness' of cystic fibrosis was, in a sense, to attempt to sell a concept, to suggest that gene therapy had a vast market, to rally investors and patient constituencies to the idea."

Better nebulizers have been available in Europe and Canada for years. They weren't approved by the FDA until earlier this year.

Casting CF as a "lung disease" was also strategic. Lung infections are the most common killers of CF patients, and lung problems are the most obvious day-to-day problem for those with the disease. According to Wailoo, curing a chronic illness that affects only the lungs seemed plausible, even inevitable. Getting politicians to understand CF as a multifaceted, full-body disease was considered more difficult.

So, in modern culture, cystic fibrosis is a lung disease for white people. That is what I was taught in my high school genetics class, and that's what the media has called it, over and over again.

Katelin was born in 1988. She was not white. Her dad is Irish, her mom is Indian. As an infant, she suffered from a "failure to thrive," an ominous, vague diagnosis that means doctors don't really know what's going on. She was run through a battery of tests, but the idea that she might have CF didn't even cross her doctors' minds because of her mother's race. Doctors remained stumped for months as Katelin continued to suffer as an infant. Finally, after months of dead ends, her mom found a book about CF at the library. She read it and demanded that Katelin be checked for CF. At the time, the median predicted survival time was about 28 years.

***

Illustration: Rebekka Dunlap

In the summer of 1989, researchers from Toronto's Hospital for Sick Children announced that they had, for the first time, identified the specific gene that causes cystic fibrosis. The discovery made headline news everywhere. According to an August 25, 1989 Toronto Star story, researchers called it "the biggest breakthrough in the history of human genetics."

Ashley Dyer, then four years old, was one of the CF patients who took part in the study that isolated the gene. In the Toronto Star story announcing the discovery, Dyer's mother said the find "turned hope into reality." Ashley herself said "cure time is coming."

Ashley Dyer died of cystic fibrosis-related complications in 2011 at the age of 25.

The Toronto discovery was a breakthrough, and it immediately changed the conversation surrounding cystic fibrosis. Researchers said that it was only a matter of time until CF was cured.

The answer, most researchers agreed, was gene therapy, in which defective genes are replaced with functional ones. This was pitched as a "cure" by the media and some scientists, even though the most ardent gene therapy supporters admitted that, because the lung sheds cells often, it would require recurring treatments. The National Institutes of Health still has a page online suggesting that "gene therapy research offers promise of a cure for cystic fibrosis."

Screenshot: National Human Genome Research Institute

The first human trials involved making patients inhale modified common cold viruses through their nose. Treatments were expected to be needed once every couple months, as the modified cells inside the lungs replaced themselves with the ones a CF patient was genetically programmed to make from birth. This was expected to make their lungs function normally.

The promise of gene therapy meant that funding quickly shifted away from finding new drugs and into making gene therapy work. Many people make the assumption that big pharmaceutical companies don't actually want to cure diseases, because then they lose customers. But in this case, the people directing research for cystic fibrosis were not working for big pharmaceutical companies. Instead, it was the CFF and other CF charities. And it's much easier to get donations from families and friends of patients if you can promise them a cure, not some sort of incremental treatment increase.

"There was money to be made in day-to-day cystic fibrosis care, but gene therapy seemed to be a far more lucrative prospect because of the large, relatively privileged market of patients," Wailoo wrote. "The idea of gene therapy for CF filled an emotional need, but in the end it was a marketing myth, revealing more about the business culture and mainstream ideologies of the 1990s than about the actual potential of genetic technology."

"We were drawn into the simplicity of the concept. You just put the gene in."

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."

Discover noted that "cystic fibrosis may be just the opponent gene therapy has been looking for. It's inherited, it's deadly, and—most important—it's responding."

Except it wasn't responding. Crystal's patients weren't getting better; instead, they merely weren't dying from the treatment. Any improvements patients showed in lung function were extremely short-lived, and some patients showed serious side effects, like drops in oxygen levels and lung inflammation.

***

"Great Strides" walks, are a popular CFF fundraiser. Image: Stephen Weppler/Flickr

Jesse Gelsinger did not have cystic fibrosis. But his death in 1999 quickly ended the idea that gene therapy would be a straightforward way of curing a variety of diseases. Gelsinger had a liver disease, attributed to a spontaneous genetic mutation after his birth, that caused him to be unable to metabolize ammonia. The disease was annoying, but not life-threatening. He subsisted on a low-protein diet and had to take 32 pills a day, which kept the disease in check. As Sheryl Gay Stolberg, a New York Times Magazine reporter, bluntly put it, "Jesse Gelsinger was not sick before died."

But these were early days of gene therapy. It held all of the promise and few considered the potential risks. Gene therapy was seen as our best hope for a cure. For Gelsinger's ornithine transcarbamylase deficiency, for cystic fibrosis, for sickle cell anemia, for HIV, for everything. That gene therapy might work one day is not an impossibility, but Gelsinger's experience quickly made it clear that it was irresponsible to focus primarily on gene therapy as a cure.

Days after his 18th birthday, Gelsinger signed up for a gene therapy clinical trial at the University of Pennsylvania being run by researcher James Wilson. Gelsinger didn't believe he would be cured during this trial, but he thought it would shed light on his disease so that a cure could be developed for infants diagnosed with the disease, and, perhaps, for him in the future.

"We were drawn into the simplicity of the concept. You just put the gene in," Wilson told Scientific American in 2009.

And that's exactly what Wilson did. He transfected a weakened version of adenovirus, which causes the common cold, with DNA that should have, in theory, corrected Gelsinger's mutation. He received 30 milliliters of this vector, woke up, and almost immediately got sick.

The whites of Gelsinger's eyes turned yellow. He had a fever, and soon, he appeared to have a clotting disorder. He fell into a coma. His lungs stopped breathing on their own, his kidneys shut down, there was blood in his urine. Jesse Gelsinger became the first person whose death was directly attributed to gene therapy.

The reaction was swift and brutal, and the resulting investigation showed a series of ethically dubious decisions by Wilson. Two monkeys died during an animal trial and other patients showed adverse reactions from similar trials, a fact Gelsinger and his family weren't informed of. There were indications Gelsinger's liver wasn't functioning well enough at the time to get the treatment. Finally, it later came out that Wilson owned significant stock in a biotech company that invested in gene therapy, so he had a financial stake in the trial's success.

"By definition, talking about a cure is really inappropriate"

"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."

An annual supply of Kalydeco costs $311,000. The CFF sold its royalty rights for $3.3 billion.

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.

But, in retrospect, there was never any reason to expect that gene therapy would serve as a full cure, and experts wonder why it was ever touted as such.

"How can the exalted expectations and widely disseminated optimism about gene therapy as a cure for cystic fibrosis be reconciled with the apparent reality that the disease was far too complex for gene therapy alone to tackle effectively?" Wailoo wrote.

Alan Stockdale, of the Center for Applied Ethics and Professional Practice and author of a 1999 paper called "Waiting for the cure: mapping the social relations of human gene therapy research,"noted that "none of [the therapies], if they worked, would be a cure in the sense that a patient would be free of CF." He quoted a researcher who told him that "by definition, talking about a cure is really inappropriate."

The CFF's hopes, and those of hundreds of thousands of CF patients, were placed into gene therapy. The CFF shut down its gene therapy research centers within a couple years of Jesse Gelsinger's death.

Today, the only easily accessible mention of gene therapy on the Cystic Fibrosis Foundation's website is as a frequently asked question: "When the gene that causes CF was identified in 1989, there was much excitement that it would soon be possible to treat CF using gene therapy. Scientists are currently exploring the use of gene therapy for many diseases, including CF, but have had little success. It has been very hard to find a safe and reliable way to deliver healthy genes into the body."

***

Katelin in 2012. Image by author

Katelin was an actress. She starred in a couple of student and art films and was in plays at Towson University and small professional and community productions in and around Baltimore. I'm biased, but I think she had big things ahead of her. She made a good fictional meth addict; her boundless energy and willingness to act batshit crazy certainly helped. I never once lied, not even a little, when I told her a performance was great, fantastic, affecting.

One of the last plays she was in was called Following Sarah, in which she played the titular Sarah, a track star. In the play, Sarah commits suicide, and Katelin flashes in and out of the play in flashbacks and, sometimes, as hallucinations as the remaining members of the track team are dealing with the emotional fallout of her death.

The play was voted best of the Baltimore Playwrights Festival; a reviewer called Katelin's performance "downright heartbreaking as a girl frozen in the prime of her life."

Playing a cross country star, Katelin had to run around on stage for two hours, had to run for even longer during rehearsals. Katelin was a lot of things, but she was not a runner. The rehearsals wore her out to the point that I didn't know what to expect when I saw the play. I showed up and watched her run for two hours. She didn't cough once. You'd have no idea that her lungs were burning through the whole thing, as she told me later.

At a memorial event a couple days after Katelin died, one of her fellow cast members noted that she had no idea Katelin had cystic fibrosis, didn't even know what cystic fibrosis was. Katelin showed no weakness to the outside world, ever, but her coughing was always there. Unknowing strangers at parties would tell her to quit smoking. She'd regularly get shushed at the movies. Things like that made me furious; Katelin let it roll off her back.

Every morning, Katelin woke up and did an hour-and-a-half of breathing treatments through a nebulizer. Pulmozyme to thin the mucus. Then saline, to loosen it. Every other month, she did a nebulized antibiotic to stave off bronchitis or pneumonia. Sometimes she took a nebulized steroid. Then, she did a half hour in The Vest, an inflatable device that pounded her back and chest with pockets of air to help her cough up.

The Vest was patented and trademarked in 1989 but wasn't covered by most insurance companies for years and didn't become cheap enough for most families to afford until the late 1990s. Katelin didn't get hers until middle school. One time, we went to Belize for a week and the vest didn't work with the country's power supply, so I had to pound on her back and chest for a while to help clear her airways, a common practice before the vest became a standard tool to treat CF.

"Everyone I met in the hospital is dead."

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.

This is to say that Katelin was not waiting for a cure to start to live her life. For her, cystic fibrosis was an inconvenience—an unimaginably shitty inconvenience—but an inconvenience nonetheless. Cystic fibrosis is a disease of maintenance, and there is a constant balancing act between keeping up with treatments and keeping up with life. She needed a way of doing this maintenance more seamlessly.

She needed new drugs and new nebulizers and new and better vests. She talked all the time about finding a new electronic nebulizer that would have vastly cut down on the time it took her to do treatments. These nebulizers have been available in Europe and Canada for years, but weren't approved by the FDA until earlier this year and were impossible to get with her insurance. I spent late nights dreaming up ways to smuggle one into the country for her, but she was doing well, so I gave up.

This is the fundamental disconnect between the realities of living with a chronic disease and the dream of finding a cure. Stockdale, author of the 1999 "Waiting for the cure" paper, interviewed dozens of CF patients during the height of the gene therapy hype and found that few of them much cared about that research. Like Katelin, they wanted incremental improvements in the treatments they already did.

The cast of Following Sarah. Image: Fells Point Corner Theatre

"I think hype is par for the course when it comes to technical innovations but I think the ethics are a little different when the innovation relates to life versus, say, a lifestyle enhancement," Stockdale told me. "At the time I don't think many who had been living with CF for a while invested much in the hype. Many had been round the block a few times already with medical breakthroughs. But while this was going on there were many other issues and concerns that affected people living with CF that got submerged."

In his paper, he quoted a CF patient who said that the CFF's "almost total neglect in aiding people with cystic fibrosis in our day to day lives is criminal." Another patient told him that "I do think the CFF has [been and] is guilty of playing up research advances for the sake of raking in more dough."

A spokesperson for the CFF would not comment specifically about its activities during the 1990s, but told me that at least one third of patients delay or skip treatment because they can't afford it.

"It's an extremely expensive disease to treat," the spokesperson said. "This is of great concern to us. We help address the financial burden through a variety of patient access and advocacy resources."

Stockdale wrote that the CF medical community focused almost entirely on curing the disease, at the expense of those who already have it. This conclusion was reached based on a series of 40 interviews with medical researchers, CF patients, CFF and other charity representatives, and biotech scientists. Those interviews were supplemented with information culled from news articles, research papers, cystic fibrosis conferences, and 15,000 emails from a listserv for CF patients.

"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. Its fundraising activities are also fundamentally in conflict with patient education," Stockdale wrote. "This suggests a lack of understanding for the many ways people live with and experience the disease."

***

When Joshua Stokell answered the phone, my stomach immediately tightened, I tensed up.

I haven't spoken to Katelin in a year and a half, haven't heard her voice outside of my dreams and memories in nearly as long. Stokell, a cystic fibrosis researcher and cystic fibrosis patient, was rushing across the University of North Carolina at Charlotte campus to field my call. I caught him a couple minutes early, and he was out of breath in a way that reminded me of Katelin after we chased after a bus or after we went for a swim. Every week for the last three years, he'd been studying his own mucus to see how antibiotics affect the microbial communities within the lungs of a CF 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.

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.

"For me, growing up, I was always exposed to medical fields because I went to the doctor so often. It was always 'Oh, Josh is going to be a doctor and cure CF.' They always talk to little kids that way," he said. "My understanding of what a 'cure' means has changed over the years. It was very disappointing getting older and having that realization that I'm never going to become healthy from a cure."

"The word 'cure' to me means there's no disease left, it's some miracle pill and there's no more disease," he added. "In reality, a cure is much more difficult. Maybe it's something found through long term treatments or some sort of maintenance that you can be more symptom free and live a full life. I think to me, that's more of what a cure is in CF."

At 36, he had to use inhaled oxygen tanks to help him live a somewhat more normal life.

I spoke to Stokell at the end of May. He died of cystic fibrosis-related complications on June 8. By all accounts, his death was unexpected. A diehard gamer, Stokell's Destiny clan held virtual tributes for him and many of his fellow gamers have donated money to the CFF in his honor.


A tribute video made for Stokell by his fellow Destiny players.

"He had bought a house and was in a long-term relationship," Todd Steck, the professor overseeing his work, told me. "He had a promising career that required many years of school and training. These are not things that someone who had resigned himself to an early death would do."

Like Katelin, Stokell managed to build a life while dealing with CF. It wasn't easy. He told me that, in high school, he had to decide whether to hang out with his friends or to do all of his breathing treatments; often his friends won out.

"When I was younger, I wasn't as compliant as I should have been," he said. "I think I did a lot of damage to myself. Sometimes you feel good and don't think you need a treatment until it catches up with you later. I think there's something to be said about being compliant when you're younger."

I think back to the times in college when Katelin would sleep at my dorm after a party without doing a treatment, or the times I told her to go back to sleep instead of doing a treatment when she woke up exhausted in the morning. I think about the times her insurance lapsed or the pharmacy was closed and she had to wait a few days to get her prescriptions refilled. I think about the times she had to take a dated version of a drug because she couldn't afford the one she should have actually been taking. I think about the of the times we went to concerts or to bars and people spent their evening blowing smoke in our faces. I think about the times we got too drunk, or the handful of times she smoked a cigarette or some weed just to see what it'd be like.

Katelin made the choice to not be shackled by her treatments, to not let them keep her from living her life. I suspect she wouldn't regret her decisions. She never admitted to regretting anything, ever. But I wonder.

***

Now, there's a pill. A blue, oval pill. A tiny, 150 mg pill. It's called Kalydeco and it's been hailed as the miracle everyone has been waiting for all these years. But there's a catch. In fact, there are lots of catches. There's always a catch.

Here are some of the catches: An annual supply of Kalydeco costs $311,000. One single pill of Kalydeco costs $426.03. Kalydeco also only treats people with a specific cystic fibrosis mutation; it only has an effect on 4 percent of those with CF.

Nonetheless, Kalydeco treats the underlying cause of CF. It is not gene therapy, it didn't arise out of the gene therapy research in the 1990s, and it is not a cure. Start taking it early enough, however, and it's possible you'll never need to do a breathing treatment.

For those with permanent lung damage or scarring—the majority of those living with CF today—it serves as something of a "pause" button. They still need to do treatments, but, in theory, their CF shouldn't get any worse.

In 2013, the CFF made $257 million from drug royalties, much of that from Kalydeco. Screenshot: CFF

Kalydeco doesn't cost so much because it's particularly hard to make. It costs so much because a team of accountants at Vertex, the company that developed the drug, has decided that this is the price the market will bear. Vertex did not respond to my request to talk for this story.

"It's one of those deals where the second pill costs $5 to make, but the first pill cost $500 million to make," Brian O'Sullivan, a CF doctor at the University of Massachusetts Medical School, told me. "You divide hundreds of millions of dollars making it by the 1,200 patients who can use it, and you come up with the number you feel you need to make back from each patient."

O'Sullivan was coauthor of an op-ed published in JAMA slamming Vertex, the drug's manufacturer, for its extremely high price. O'Sullivan looks at Kalydeco as an incredible breakthrough, but one that has been used to take advantage of the families of those living with CF.

Image: Vertex

That a treatment that serves a potential total market of 1,200 exists at all is a total anomaly in a country in which drugs are often developed based on how many people it can eventually be sold to. Its inception can be attributed almost entirely to the Cystic Fibrosis Foundation.

Kalydeco grew out of some basic research that went on in the mid and late 1990s unrelated to gene therapy. Though the CFF put a disproportionate amount of money into gene therapy, it also continued funding some basic research to learn more about the disease's mechanics. It then took these discoveries and, using a strategy it calls "venture philanthropy," told drug companies to try to make new therapies using the discoveries.

"Vertex says it spent a lot of money to develop this drug, which I'm sure is true," O'Sullivan said. "But the first $75 million came from the CFF. Vertex didn't have their skin in the game until they knew there was a potential hit there."

The eventual discovery of the drug has been an outright coup for the CFF. In the late 1990s, when it became obvious that gene therapy wasn't working, the CFF invested millions of dollars into a slew of pharmaceutical companies, with the understanding that those companies would use the money to develop new CF drugs. This is good for the CFF in two ways: First, it's probably the fastest way to actually get new drugs developed. Second, because the CFF put its own money into the development of these drugs, it retains a portion of the royalty rights for any drugs developed with its investment.

That second bit makes venture philanthropy somewhat problematic, giving the CFF less incentive to push makers like Vertex to bring the price down. For the first two years of Kalydeco's existence, the CFF raked in hundreds of millions of dollars on the sale of Kalydeco.

In November of last year, the CFF sold the rights to all future royalties of Kalydeco for nearly $3.3 billion, by far the largest venture philanthropy deal for any rare disease foundation, ever. The CFF says it can operate at current budgets for 15 years with this money.

In 2014, the CFF sold the royalty rights to Kalydeco for nearly $3.3 billion. Screengrab: CFF

"The CFF gave Vertex $75 million to develop the drug, and the people who raised that money were patients and families and friends who went to walkathons and bowlathons," O'Sullivan said. "Now they're stuck paying full fare for the drug. And they are still sponsoring Great Strides Walks like [that money] makes any difference."

The CFF told me that it "advocates every way it can on behalf of people with CF."

"Funds from any royalties we receive are reinvested to accelerate further drug development and advance our mission to find a cure," a spokesperson for the foundation told me. "For example, in the 1990s, the royalties we received from our support of the development of the antibiotic TOBI helped support the discovery and development of Kalydeco."

Robert Beall, the CFF's president, would not speak to me for this story but told the Washington Post earlier this month that using royalty money to pay directly for patient care and assistance would be shortsighted.

Vertex's argument for its pricing is simple: It spent billions of dollars trying to develop several different drugs, and this is the only one that took. A drug it developed for hepatitis C was quickly surpassed by other drugs, and CF is its cash cow. In fact, the company is now primarily focused on selling and developing CF drugs. Vertex CEO Jeffrey Leiden gave himself a nearly $15 million bonus last year, and the company's stock is up 75 percent over the last year.

Earlier this month, Vertex won FDA approval to market Kalydeco with another drug to treat as many as 15,000 CF patients in the US. It's called Orkambi, and this combination therapy will cost $259,000 per patient, per year. Its efficacy isn't nearly as good as Kalydeco when used on people with the rare CF mutation.

"I have a lot of issues with touting this combination as being exciting—it's got some positives, but a lot of negatives, and we're misleading the public if we're saying it'll be as good as Kalydeco is," O'Sullivan said.

And some teams are still plugging away at gene therapy. In fact, earlier this month, researchers in the United Kingdom demonstrated for the first time in a clinical trial that gene therapy could be used to stabilize the lungs of CF patients. The Guardian notes that treatment "may be possible by 2020."

It's hard to know how to feel about any of this. I want the lives of CF patients to improve, I want there to be a cure, but I don't know anyone else with CF. I wanted to see more of Katelin. I wanted her to spend less time coughing, less time exhausted, less time doing breathing treatments. Better, more consistent access to the best CF medication that was already on the market and faster FDA approval of treatments shown to be effective in Europe could have helped. A "cure" would have saved her, sure, but a cure is aspirational. It's theoretical. It's for people who aren't born yet. We'll get there, someday, I'm sure. As NYU's Caplan said, there's a balancing act to be done; yes, we need to be researching a cure, but we also need to stop pretending as though our donations today are going to lead to a cure tomorrow (as opposed to many tomorrows from now).

CF was a part of Katelin, and so it's hard to divide the things that wowed me about her into two categories, "CF-related" and "other." So, it's a good thing I don't have to. All I know is that when I think about her, I don't think about cystic fibrosis. I think about how she made me feel and the things we did together. I think about finger-painting something stupid on the side of a (slowly) moving train. I think about sitting in a gondola in Italy. I think about screaming at opposing players at Nationals games. I think about watching her run around like a maniac on stage.

And so it feels weird for me to keep donating money in her honor to the CFF when I could be, say, setting up a theatre festival in her memory. She was an actress, not a patient. And she wasn't waiting for anything.

***

Illustration: Rebekka Dunlap

Once, I asked Katelin why she didn't have any friends with cystic fibrosis. It might be helpful, I thought, to talk to other people going through what she went through. This was before I knew that CF patients can't be around each other because they can easily pass around bacteria. Before this was common knowledge, however, Katelin regularly played with other kids who had CF at the hospital.

"Everyone I met in the hospital," she told me, "is dead."

We were 17.

Katelin knew what she was up against. She missed weeks of high school at a time to go into the hospital, she had scary blood clots, she'd get a cold and it'd last far too long. I don't think she was under the illusion that she would be cured.

And so, everything she did was intense. Everything she did was the most. The biggest, the loudest, the funniest. The day I met her, bowling freshman year, I didn't understand how such a small girl had such a large personality. I thought she was loud and kind of pushy, because she was loud and pushy. She took shit from no one. She won class clown and never let anyone forget it ever, ever, ever. She sung the most enthusiastically at karaoke and if people didn't know who she was at the start of a party, they knew who she was at the end of it.

I dealt with disagreements by writing notes or being passive aggressive, she dealt with them by screaming at you. She got jobs and quit them if she didn't like them. She stuck nothing out for the sake of sticking things out.

She went swimming with sharks and tried to replace her contact lens in the middle of the ocean while having a coughing fit. She did backflips. She held grudges.

At times, it seemed like the girl couldn't catch a break. She bought a car and it broke immediately, then it broke again. She never had money. The store she worked at closed. But things were looking up. She was getting noticed in the acting scene, she was graduating school, she was happy.

I didn't talk to Katelin about a cure. I talked to her about being better about her treatments and about trying to score experimental medicines and, sometimes, about timelines and trying to cram a lot of life into what we both knew might be a small amount of time. Cystic fibrosis was always going to be a part of her life—I just wish that enough new developments and support had come through to make it an easier part of her life to manage.

It's a cliché thing to say that she lived life in the moment, like there might not be a tomorrow. But that's what she did. But that doesn't bring me much comfort. Her life did not come to a neat ending. It's not enough to say that she packed a lifetime worth of experiences into a short 25 years. There was more to do, and she wanted to do it.

Katelin didn't write much, but when she did write, it was beautiful. If you've read this many of my words, I was thinking maybe you'd want to read a few of hers. She sent this poem to me late at night one day about two years before she died. I loved it instantly. I've memorized the words by now; I've got part of it tattooed on my chest.

A man sits at a table spinning the coins from his change one by one. The pennies dance in circles with each other until one gets tired and inevitably crashes down on the table top. There's a moment when the penny wobbles in exhaustion and you're not sure which way it will fall. This is where I live my life. In that moment. Never sure about which way I'm going to fall. I remember as a kid, I used to spin around in circles until my legs couldn't hold me up any longer. The world seems to race by you in a blur. And then comes the wobble. And a collapse into a fit of laughter while the world spins madly on around you. As soon as your eyes steady enough to stand, it's back to whirling around at 100 mph. There's no time to be sick or to be hurt. The only goal is to keep spinning. Keep spinning. Keep spinning.

When she died, this poem was the only thing she left open on her laptop.

Modern Medicine is a series on Motherboard about how health care and medical technology can move forward so rapidly while still being stuck in the past. Follow along here.