This Doctor Almost Died 5 Times From a Rare Disease — Here’s How He’s Fighting Back

David Fajgenbaum, MD, was a college football player at Georgetown University in 2004 when his mother passed away from cancer. The loss inspired the athlete to become a doctor himself: “I wanted to treat patients in memory of my mom,” he says. But three years into medical school, the then-25-year-old’s health took a turn for the terrifying — he began to have night sweats and fatigue, shed weight, and even temporarily lost his eyesight.

Dr. Fajgenbaum was hospitalized in the ICU and was eventually diagnosed with Castleman’s disease, a rare disorder in which your immune system shuts down your vital organs, like your kidney and liver, for an unknown reason. There are around 5,000 new cases of Castleman’s disease each year in the U.S., and the life expectancy post-diagnosis is only one-to-two years.

“When I became critically ill, all of my organs shut down,” Dr. Fajgenbaum told Katie at this year’s “Future of Health” panel during South by Southwest in Austin, TX. “I was so sick that my family came into the room to say their final goodbyes, and a priest read me my last rites.”

Sadly, that was only his first brush with death — Dr. Fajgenbaum would go on to nearly die four more times: “Chemotherapy kept saving my life,” he says, “but I knew there was no way I’d live much longer unless I could find a drug that could maybe save my life.”

That’s when Dr. Fajgenbaum decided to build a community for people who either were suffering from Castleman’s, or had knowledge about the disease. “Because it’s so deadly, that means there aren’t too many of us around,” he says. “I knew my only chance for survival was to bring together patients, physicians, and researchers, and to start looking for existing drugs that were already FDA-approved, for something else that we could maybe repurpose for my disease.”

“I didn’t have a billion dollars and ten years to wait for a drug,” says Dr. Fajgenbaum. “If I wanted to make it to my then-fiancée’s and my wedding day on May 24, 2014, I would need to find a drug that could be repurposed.”

Thankfully, Dr. Fajgenbaum uncovered a drug that — although it wasn’t made for Castelman’s disease — he was able to test on himself. “It’s now been over nine years that I’ve been in remission,” he says, “on this drug that wasn’t made for my condition.”

Of course, Dr. Fajgenbaum isn’t the only person who’s been struck down by a diagnosis during what should be the prime of their life. In 2017, 37-year-old Brian Wallach found out he had ALS on the day he and his wife, Sandra Abrevaya, were bringing their second daughter home from the hospital. The neurologist told Wallach there was no treatment or cure for ALS, and that, on average, people live for six months after they are diagnosed.

“I’m happy to say,” Wallach shares, “that I am five and a half years past my diagnosis.”

Rather than wallow in their new set of circumstances, the dynamic duo — who met as campaign staffers for President Obama in 2008 — decided to take matters into their own hands and help push the ALS community forward. Together, they started the organization I Am ALS.

“Instead of going on his bucket list of vacations after being diagnosed,” says Abrevaya, “he took to planes, trains, and automobiles and hit the road to answer the question: What needed to happen in this space that wasn’t happening?”

What was missing from the current landscape? Says Abrevaya, “We needed a movement — a community that could mobilize to help drive federal funding and legislation, and could significantly accelerate the pace with which we were developing and approving drugs.”

The two just released their new documentary, No Ordinary Campaign (of which Katie’s an executive producer), which chronicles their journey to create a patient-centered movement that helps push progress forward toward a cure or treatment, and turn ALS “from terminal to chronic.”

Castleman’s and ALS are just two of the rare diseases that afflict millions of Americans each year. What makes a disease technically “rare”? In the U.S., conditions are given that term if they’re diagnosed in fewer than 200,000 people. Despite being labeled “rare,” though, the number of patients in total being diagnosed with these seemingly unusual diseases tells a different story. In fact, almost 1 in 10 Americans — and more than 300 million people globally — are affected by a rare disease.

“The bottom line is that rare disease is actually incredibly common,” shares Tania Simoncelli, vice president of Science in Society, at the Chan Zuckerberg Initiative. “This is a serious global health challenge.”

To that end, the Chan Zuckerberg Initiative is on a mission to cure, manage, or prevent all diseases by the end of the century — and Simoncelli is helping to make that possible.

Inspired by Dr. Fajgenbaum’s journey, Simoncelli created an effort to support rare-disease patient communities that can advocate for — and be partners in — research and drive solutions forward. Called the Rare As One Project, it has funded over 75 patient organizations to date, including a network of 50 rare disease communities that are speeding up research and banding together to find solutions, treatments, and cures.

This way, the power is in the patient’s hands: “Receiving a rare diagnosis is an incredibly life-altering experience,” says Simoncelli. “People are told, ‘There’s nothing you can do, we know next to nothing about this disease, go home and get your affairs in order.’ So those who say, ‘No, I’m going to fight, and I’m going to find a way’ are truly special. It makes me want to run through walls with them, and find ways to move this concept of patient-driven research forward.”