Doctor fights rare disease through personal research
David Fajgenbaum, once a healthy college athlete, battled a life-threatening rare disease that also claimed his brother's life. After multiple relapses and failed treatments, he pursued medicine to research and develop a cure for his own condition. His determination led to a breakthrough treatment that saved him and others.
In 2004, David Fajgenbaum was a 16-year-old high school student and varsity athlete when he suddenly fell ill during a hike. He experienced severe symptoms including swollen lymph nodes, fatigue, and fluid buildup in his abdomen. Diagnosed with idiopathic multicentric Castleman disease (iMCD), a rare and aggressive lymphoproliferative disorder affecting about 4,300 to 5,200 people annually in the U.S., Fajgenbaum underwent aggressive treatments like chemotherapy, which initially put him into remission.
However, the disease relapsed multiple times. In 2010, after his third relapse, Fajgenbaum lost his brother, Michael, to the same condition at age 19. Devastated, Fajgenbaum decided to channel his grief into action. 'I was determined not just to survive but to find a way to prevent this from happening to others,' he later reflected in interviews.
Enrolling in medical school at the University of Pennsylvania in 2011, Fajgenbaum balanced his studies with intensive research into Castleman disease. As a patient himself, he faced his fourth relapse in 2012, nearly dying from organ failure. This personal stake drove him to co-found the Castleman Disease Collaborative Network (CDCN) in 2012, the world's largest organization dedicated to the disease, which now includes over 100 researchers and clinicians globally.
Through systematic analysis of medical literature and patient data, Fajgenbaum identified a potential treatment target: the mTOR pathway, overactive in iMCD. In 2014, he pioneered the use of sirolimus, an mTOR inhibitor typically used for organ transplants, to treat his condition. The drug successfully induced remission, and subsequent studies confirmed its efficacy, leading to FDA approval for iMCD treatment in 2021.
Today, Dr. Fajgenbaum, an assistant professor at Penn Medicine, continues his work as a physician-scientist. His story highlights the power of patient-driven research in rare diseases, where traditional funding and studies are limited. As he notes, 'Becoming my own researcher wasn't just about saving my life; it was about rewriting the rules for how we approach these orphan diseases.'
The implications extend beyond iMCD, inspiring similar initiatives for other understudied conditions and emphasizing the value of interdisciplinary collaboration in medicine.