Christmas 2013 and David Fajgenbaum was in a hospital bed at the University of Arkansas, stricken with Castleman disease, a rare autoimmune disorder involving an overgrowth of cells in the body’s lymph nodes. A doctor told him to write his living will on a piece of paper. Massive “shock and awe” chemotherapy regimes had helped him narrowly escape death during four previous attacks, but each new assault on his body weakened him.
As a 7 year old boy in Raleigh, North Carolina, , he was obsessed with becoming a Division 1 athlete. In middle school. He achieved his dream, making the Georgetown University football team as a quarterback. Fajgenbaum then earned a master’s degree at Oxford University, where he learned how to conduct scientific research.
He entered medical school at the University of Pennsylvania to become an oncologist. During his third year, in 2010, he was hospitalized for five months. Something was attacking his liver, kidneys and other organs and shutting them down. The diagnosis was rare idiopathic multicentric Castleman disease.
His organs were failing and he noticed curious red spots on his skin. But his doctors, focused on saving his life, weren’t interested in these “blood moles.” Castleman disease struck him four more times over the next three years, with hospitalizations that ranged from weeks to months. He stayed alive only through intense chemotherapy “carpet bombing” campaigns.
During one relapse his family called in a priest to read him his last rites. Despite four hospitalizations, he managed to graduate from medical school. His life depended on it.
In 2013, Rather than starting a residency, he began an MBA at Penn’s Wharton School. He founded the Castleman Disease Collaborative Network, a global initiative devoted to fighting Castleman disease. He coordinated data-sharing efforts between labs and began bringing the world’s top Castleman disease researchers together for meetings. His group worked with doctors and researchers as well as patients to prioritize the studies that needed to be done. Rather than having people apply for grants, they hand-pick the best researchers to investigate Castleman.
Fajgenbaum prioritized clinical trials that re-purposed drugs the FDA had already approved rather than starting from scratch with new compounds. Staving off the next relapse meant flying to North Carolina every three weeks to receive chemotherapy treatments. But in late 2013 Castleman struck again, landing him in that Arkansas hospital. It marked his closest brush with death yet.
Fajgenbaum set out to try and save his own life. After examining his medical charts, he zeroed in on an idea that researchers hadn’t yet explored. A protein called vascular endothelial growth factor, or VEGF, was spiking 10 times its normal level. In medical school he’d learned VEGF controls blood vessel growth, and he hypothesized that the blood moles that had shown up with every Castleman relapse were a direct result of that protein spike, which signals the immune system to take action.
He knew there was an immunosuppressant called Sirolimus that was approved by the FDA to help fight the immune system when it activated against kidney transplants. Fajgenbaum asked his doctor to prescribe him the drug. So far it’s working. He has been in remission from Castleman for more than five years. He and his wife have a baby girl and he’s devoting his medical career to saving other patients like him.
Fajgenbaum is now an assistant medical professor at the University of Pennsylvania, running a research lab and enrolling patients in a clinical trial for the drug that’s given him his life back.
There are 7,000 rare diseases affecting 400 million people around the world, according to Global Genes. And just 5% have an FDA-approved treatment. For the last 10 months Fajgenbaum’s group and the Chan Zuckerberg Initiative have been working together to help rare-disease communities bring together patients, researchers and doctors to get the right research done as fast as possible.
Fajgenbaum hopes his story offers lessons, far beyond medicine, about what people can do when they’re backed against a wall.
Doing rounds, a new nurse couldn’t help overhearing the surgeon yelling, “Typhoid! Tetanus! Measles!” “Why does he keep doing that?” she asked a colleague. “Oh, he likes to call the shots around here.”