Chasing My Cure Read online

  It was a strange quirk of my disease and recovery that my diminished state actually opened up opportunities where I wouldn’t have found them otherwise. Without football or college or graduate school or medical school (I was now on medical leave), I’d never had so much time to devote to the AMF support network as I did now. I dove back into running its operations from our small office in Raleigh, just down the street from Rex Hospital. This was such a gift. I wanted to expand the network to reach even more grieving students around the country. At that time, we had chapters holding support group meetings and community service events on over one hundred college campuses. But I wanted us to help more people. I thought about writing a book to reach all of the students where there were no AMF chapters. Since I thought it, I had to do it. I partnered with a friend and mentor, Dr. Heather Servaty-Seib, to write the book, and we eventually published it with input and stories from grieving young adults in our network. I felt like I was channeling my mother by making a silver lining in my forced downtime.

  For six months, I recuperated in Raleigh. I had to go to the hospital every three weeks for my infusion of siltuximab, but I had been getting stronger ever since the Little Rock carpet bombing. And my blood tests had all returned to normal. Things had also changed in a more profound way: Caitlin and I were developing a balanced relationship for the first time…ever. Even with so much geographic distance between us. I wasn’t burying myself in my work anymore in a way that excluded everyone else and forced me to choose between Caitlin and AMF or Caitlin and medical school. I was choosing balance. And she started volunteering more for AMF, so we could spend time working together to pursue our shared passion for helping grieving college students. We were able to combine and intertwine our lives like never before. And it was so much fun.

  By July 2011, I decided it was time to pick up some of the final pieces of my life that Castleman disease had broken apart. That meant going back to medical school and refocusing on training to become an oncologist, which I could not wait to do. And that meant handing the reins of AMF to a full-time and paid executive director. I was proud of how far the organization had come, and I wanted to find the right steward to carry forward what Caitlin, Ben, Lisa, Gena, a number of other volunteers, and I had built. A conversation with one candidate for the job was particularly memorable. He told me that he’d been inspired to apply after reading a book called Halftime, which was all about finding significance in the “second half” of your life; he was in his mid-sixties.

  “You’re too young to read it,” he said. “You’re not even close to halftime. You’re just getting started.”

  I rubbed my head, which was beginning to sprout back hair, and replied, “I’m in overtime, buddy.”

  I think, technically, I was in triple OT by that point. Three times I’d seen the clock tick down to zero. Three times I’d been able to get up and get back in the game.

  I’d played in plenty of overtimes in football games going all the way back to peewee, and the accumulation of those experiences had taught me something about last-ditch efforts and final attempts. There’s a condition of overtime that looks a whole lot like randomness from the outside. The buzzer beater gets clipped and shared online, or the Hail Mary gets on SportsCenter, and it looks so lucky. Weird last-second plays get immortalized and celebrated for their rarity. These moments certainly have near-magical potential to transform: One second a basketball coach is sweating, stuck in place, tracking the movement of a ball toward the hoop, and the next…he’s deliriously racing around the court, looking for someone to hug.

  But there’s really nothing at all lucky or random or weird or magical about being inside one of those moments. Regardless of outcome, the experience of being in overtime is surprisingly one of intense awareness and scrutiny. And clarity. There’s a reason for that: When there are only a few seconds left on the board, all distractions disappear and the purpose—victory—becomes clear. The present is only the things around you, and overtime is all present. Nothing but present and purpose. Overtime is going back on the field even though you’re exhausted. It’s the grass beneath your feet, and the ball in your hands, the cornerback rocking on his heels, the sun dipping below the stadium bleachers. You know that overtime is overwhelmingly significant. The dropped pass in the second quarter was a bad break that can be overcome. The dropped pass in overtime is the end of the game.

  That feeling was now with me, 24/7. Every second counted. Everything needed to have a purpose. That’s not to say everything was fine. Heck, we still didn’t even know what Castleman disease really was. I hadn’t played a perfect game—not even close—but I understood that you don’t end up in overtime or triple overtime by playing a perfect game. And setbacks can be just as inspiring. Going blind due to a retinal hemorrhage, receiving poisonous chemotherapy, and feeling the fatigue that attends organ failure motivated me just as much as waking up, coming back, and seeing the people I loved again.

  In football, every second of overtime contains three possibilities—one perfect move that means victory, one awful misstep that means defeat, and a draw that means one more shot at another moment of overtime. Every second of my life was now filled with the same three possibilities: triumph, failure, or getting by. I was hurting, but metaphorically limping off the field and icing my aching body wasn’t in the cards. Surprisingly, living in overtime liberated me to be my best self.

  * * *

  —

  I returned to medical school in September 2011, but my life wasn’t totally “back to normal” and likely never would be. I still needed to get infusions of my experimental treatment, siltuximab, every three weeks. That was just a condition of my life now. I accepted it. I’d seen plenty of patients accept far more intrusive realities into their lives, and I would have accepted much worse if it meant that Castleman disease wouldn’t come back.

  A surprising part of getting seriously ill and getting better is discovering how profoundly expensive normal can be. In trying to reengineer a (mostly) normal life for myself, I ran quickly into the real costs of things I’d taken for granted—such as being able to be away from the hospital. My treatment had to be administered back in North Carolina, and school was in Philadelphia, so I was going to have to take thirty-four flights a year. For who knew how long. When I told my friend Ryan about what I was facing, he jumped into action, organizing a party in New York City to raise funds for my travel costs. Soon, Greg Davis, Jon Edwards, and Grant organized parties in Bethesda, Georgetown, and Philadelphia. Caitlin and I attended each of these gatherings with deep gratitude, both for the funds that were raised on my behalf and for the time they gave us to be with each other and with friends.

  At the party in Philadelphia, I got an additional special surprise that entertained us all and lifted my spirits to a new high. Through friends of friends, Grant and one of my favorite medical school professors, Dr. Jon Morris, had contacted one of my heroes: Borat. Yes, the Sacha Baron Cohen character. I was—and am—obsessed with all things Borat. Baron Cohen had created him—and become famous in character—around the time that my mom passed away. Though nothing else could make me laugh or even smile then, Borat unlocked something in me, and I cried—out of laughter—the first time I watched him in action. I didn’t bother to think too hard about why this loony character gave me that release. I took it for the blessing that it clearly was. What was important was that my torpor had finally met its kryptonite: a faux-Kazakhstani news reporter who interviews Americans to provide “cultural learnings of America for make benefit glorious nation of Kazakhstan.” Absurd? Yes. Juvenile? Some would say so. I just appreciated that he provided me a respite from my struggles (and I think he’s brilliant).

  I became a superfan during college. I dressed up as Borat and faithfully stayed in character for Halloween five years in a row. Caitlin put up with it. I even turned to Borat for help when I struggled with dissecting a human cadaver in my medical school anatomy lab, sp
eaking only in his Kazakh accent to my lab partners during hours-long dissections to ease some of the discomfort I felt cutting into another human. No one in my class was surprised when I dressed up as Borat for class one day and asked the professor a question in Borat’s style and accent. “He [the obese, shirtless, hairy man photographed on the screen] remind me of my wife, but my wife much more hairy than him. Does she have his condition?”

  But then there in Houston Hall at the University of Pennsylvania, Borat was talking to me. Sacha Baron Cohen had filmed a video message for me while on the set of one of his movies. He called me the wrong name twice (intentionally) and also said that he could understand exactly what I was going through because he had gone through an entire box of tissues the previous week for a really, really bad cold. He ended by thanking the organizers for raising the funds for the event, which, he said, would actually all be used to pay for his special video appearance. I was touched by the huge effort that Grant and Dr. Morris had gone to to get Borat to talk to me on camera. I was beyond buoyed by his message.

  I sent a glowing thank-you email replete with photo attachments of me dressed in character to Sacha Baron Cohen’s agent. It was a long email. I had a lot to say. I probably shouldn’t have been surprised when he sent a reply through his agent with the subject line “remove my email address.” I guess he could sense I had some obsessive tendencies and didn’t want me to even think about being able to email him on demand.

  Being a patient with a rare disease—one I hoped would stay in remission—gave me another area to put my think it, do it motto into practice.

  I had seen firsthand how scarce research dollars and attention get funneled toward common diseases since the “upside”—the number of patients who might benefit (and subsequently pay for a potential new treatment)—is proportionately larger. This was a long-standing and, from the outside, not totally irrational concept. But the less common diseases often have more to be learned, more “low-hanging fruit,” and far fewer existing solutions, so small research investments can go a long way for them and potentially have an even greater impact on patient lives.

  I understood that I was unlikely to change the amount of research funding being distributed—diseases that affect larger populations are probably always going to get the biggest dollars—but it seemed to me that the system for awarding research dollars was not as streamlined and logical as it might be. I started to see that a more deliberate process might lead to less sporadic breakthroughs for diseases small and large. I was eager to dig into these big problems and work toward systemic solutions.

  Just as I was getting interested in these problems, and soon after I returned to campus, a large anonymous donation was made to establish the Orphan Disease Center at the University of Pennsylvania. Orphan here is used to describe rare diseases, because they are often so neglected. It was serendipity, truly. The former dean of the University of Pennsylvania medical school, Dr. Arthur Rubenstein, was named interim director of the center. I had never met him but had heard him lecture and knew him to be a legend in endocrinology research and treatment and in academic medical leadership.

  I emailed Dr. Rubenstein to offer to assist with the center in any way that I could. I may not have had an MD degree yet or the most impressive CV, but I thought that my personal battle with an orphan disease would be important. I was also on an experimental orphan disease drug. And founding AMF had given me experience building and growing an organization. I highlighted each of these points in my lengthy email and pressed send. I knew that the chances of a meeting with Dr. Rubenstein were slim to none—at least not for months; he was a very busy and sought-after man—but I found a friend in his assistant, Fran, who put me into his schedule when he had a cancellation just a few days later. A tight deadline is a gift for someone who likes to hyperfocus. In advance of the meeting, I spent dozens of hours putting together a detailed document describing the challenges in rare disease research and what I thought the center could accomplish. When we met, Dr. Rubenstein—whom I was now encouraged to call Arthur—saw how passionate I was. I couldn’t have hidden it if I tried. He invited me to join the search committee for a permanent director and shortly thereafter to spearhead the formulation of a strategic growth and operational plan for the center.

  Arthur Rubenstein opened my eyes to—and continues to teach me—a new paradigm of leadership. Up until then, my sense of leadership was informed by football and by my own hard-charging style. Leading the conditioning line, pulling aside teammates who needed encouragement, playing through injuries. I had also seen leaders who motivated through fear, which was more common than you’d like to think in medicine. But not Arthur. He is soft-spoken, single-mindedly focused on doing what is morally right above all else, and dedicated to bringing out the best in people. He works relentlessly hard when he believes in something. In truth, he reminded me a great deal of my mother. He was exquisitely talented at delegating, inspiring, and focusing us on the center’s mission: to save rare disease patients’ lives.

  He didn’t care about rank or status. All ideas were equal. Even I, a lowly medical student, was encouraged to contribute my ideas. Executive assistants and administrators who hadn’t worked with him before were surprised when he asked for their input during meetings. He never made anyone feel that he had more skills than they did. In fact, he emphasized the opposite: You are the experts. You know what is needed to accelerate rare disease research at Penn and beyond. His humble approach encouraged idea sharing and participation from everyone. It was eye-opening to see someone of his pedigree putting into practice something I was only just beginning to understand: Medicine wasn’t just made up of the spear tip of doctors and nurses. It was a whole human enterprise, one that needed as much leadership as it did raw ingenuity. Medicine suffered when it was only the sum of its most technical and esoteric knowledge. It thrived when it was a team effort.

  I was so grateful to be on that team and enthusiastically delivered on Arthur’s request for me to lead the creation of the center’s strategic plan. In so doing, I learned that though each particular disease might be rare, the collective numbers are astounding: There are approximately seven thousand rare diseases and 350 million people afflicted by them worldwide. One in ten Americans has a rare disease; half of these are children, and about 30 percent of these children will die before their fifth birthday. Approximately 95 percent of rare diseases do not have a single FDA-approved therapy because they are so poorly understood. Simply put, you can’t create a targeted treatment when you don’t know what needs to be targeted.

  A popular misconception is that rare diseases are highly complex or resistant to scrutiny, that they’re the mastermind supervillains of biology. More often than not their underlying pathologies are simpler than those of many common diseases and often involve a single genetic defect. And technologies now exist to identify targets for treatments and drugs that effectively modulate them to interrupt disease.

  Cystic fibrosis is a good example of what can happen when research and biomedical capabilities are aligned. A deadly genetic disease that causes persistent lung infections and limits the ability to breathe in approximately 30,000 Americans (which qualifies it as “rare” or “orphan” because it affects fewer than 200,000), cystic fibrosis has continually become more manageable with the development of new, life-extending drugs. This didn’t happen by chance: It’s a matter of numbers, coordination, and willpower of key individuals. The patient community has raised hundreds of millions of dollars for research. The leading foundation, the Cystic Fibrosis Foundation, has worked relentlessly to align all stakeholders. And biomedical research titans like Dr. Francis Collins, who is the current director of the National Institutes of Health, performed seminal research that propelled the field forward. Unfortunately, this is an exception. Even when there’s a will, the lack of coordination, organization, and financing often slows things down. Approximately 50 percent of all rare diseases lack a disease-spe
cific foundation to steward research; still others with foundations could stand to improve coordination of research studies, data, and biospecimens as well as collaboration between players.

  The limited funding available for rare diseases magnifies the problem of inadequate coordination and collaboration across biomedical research and pushes researchers to work more independently and competitively rather than cooperatively. Some researchers fight to keep their patient biospecimens stored away rather than sharing with other researchers. Furthermore, the limited amount of data to build upon and systemic hurdles make it difficult to generate sufficient data to win federal funding. Federal funding agencies want to see a certain amount of preliminary data to award funding, but grant funding is needed to generate the level of data required for these agencies to award funding. It’s a difficult cycle to break.

  Of course, physicians can and do sometimes try “off-label” uses of treatments developed and approved for more common diseases to help rare disease patients when no FDA-approved treatments exist. Indeed doctors can prescribe just about any FDA-approved drug to any patient for any medical condition at any time, whether it is approved by the FDA for that particular disease or not (whether an insurance company will pay for this use is another issue!). After all, many diseases share dysfunctional genes, proteins, or cells, which theoretically could be targeted with a common treatment. And sometimes targeting multiple diseases with the same treatment pays off: Viagra has been used successfully for pulmonary hypertension, Botox for unrelenting headaches, and the blood pressure medication propranolol for the deadly cancer angiosarcoma.