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February 22, 2017

Diagnosed with a rare disease, this doctor took matters into his own hands

Daily Briefing

Editor's note: This popular story from the Daily Briefing's archives was republished on Nov. 13, 2019.

David Fajgenbaum, a physician, has become one of the leading researchers in a rare condition called Castleman disease after being diagnosed with it himself, Katie Thomas writes for the New York Times.

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Fajgenbaum's case

Fajgenbaum, now an assistant professor of medicine at the University of Pennsylvania's Perelman School of Medicine, was diagnosed with Castleman disease in 2010—but not before a near-death experience with the condition.

In July 2010, Fajgenbaum, then 25 years old, woke up one night drenched in sweat, with swollen lymph nodes, abdominal pain, and red bumps on his chest. He was also tackling debilitating exhaustion, taking short naps during medical school to make it through the day.

Fajgenbaum went to the ED, where a doctor told him that his liver, kidneys, and bone marrow were not functioning properly—but the doctor said he didn't know what was causing it. Medical experts at Penn searched for clues with no luck, shuffling through potential diagnoses including lymphoma, lupus, or mononucleosis.

Finally, after taking a large dose of steroids, Fajgenbaum showed signs of improvement, and he was discharged by September 2010. But doctors still didn't have a diagnosis—and just one month later, Fajgenbaum's symptoms returned.

This time, Fajgenbaum was home in Raleigh, North Carolina. Doctors there sent a sample of Fajgenbaum's lymph node to the Mayo Clinic for testing, where pathologists determined he had Castleman disease.

The disease

Castleman disease has been known since the 1950s, but because it's so rare, it's remained a medical mystery, Thomas writes. About two-thirds of patients with the disease have a form that stays confined to just one part of the body and can be cured through surgery.

But Fajgenbaum had a form called multicentric Castleman disease. Each year, about 1,200 to 1,500 people in the United States are diagnosed with multicentric. According to research, just 65 percent of patients with the condition live for five years after diagnosis.

Diagnosis sparks life of research into rare disease

For the next few years, Fajgenbaum alternated between relative health and bouts of illness with the disease.

After several rounds of chemotherapy and an unsuccessful attempt with a then-experimental drug, Fajgenbaum decided to take his health in his own hands and dedicated himself to researching the disease.

The first thing he learned was that existing research on Castleman disease was "in disarray," Thomas writes. Researchers used different terminology to describe the disease, communication was lacking, and researchers were repeating already-failed studies.

"It became just abundantly clear that just because you have smart people thinking about a problem doesn't mean that it's coordinated at all," Fajgenbaum said.

Fajgenbaum began collaborating with experts as both a patient and a researcher. And after graduating from medical school in 2013, he entered the Wharton School at Penn because he believed a business background would help his research.

When Fajgenbaum relapsed again in December 2013, he used the experience to further his research. Based on blood samples he'd been taking before his relapse, Fajgenbaum learned that five months before he noticed symptoms, his T cells started activating, and three months prior to experiencing symptoms, his body started producing more VEGF, a protein that directs the body to make more blood vessels. Both of these were signs that his immune system was preparing for a fight.

Fajgenbaum suspected that there was a problem with a "communication line" in his body—called the mTOR pathway—and theorized that if he could force his body to shut the communication line down, he could prevent his immune system from overreacting. He and his doctors then turned to a drug known to shut the mTOR pathway, called Sirolimus, which is commonly used among kidney transplant patients.

Over the course of a year, weekly blood tests showed that his immune system was returning to normal function. It's been about three years since Fajgenbaum started taking Sirolimus, and he said he "feel[s] 100 percent."

Thomas writes that "not everyone is convinced that Sirolimus is what has been keeping him healthy." But Fajgenbaum, having discovered a potential treatment for the disease, has grown "more confident every day that it is the drug that is helping," Thomas reports.

The research continues

Fajgenbaum went on to start the Castleman Disease Collaborative Network at Penn, which operates out of the Perelman School of Medicine and aims to prioritize and coordinate research into the disease.

Through the network, Fajgenbaum is furthering his research into Sirolimus as a possible treatment for the disease. He has also assembled an advisory panel of experts under the network that is focused on answering questions related to the disease.

And Fajgenbaum called the location of the network—just above the ED where he first encountered his disease—the "ultimate motivator." He said, "I didn't think that I would ever get to leave the hospital, and now here I am, fighting back" (Thomas, New York Times, 2/4).

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