I Had My Last Rites Read to Me Over a Disease With No Cure. So I Went to Find One

I don't remember much from when I had my last rites read to me in 2010. At just 25 years old, I was incapacitated and suffering from failure of my liver, kidneys, and other vital organs. I do remember it was dark and I was scared to die. As a third-year medical student, I had never witnessed such a rapid decline in anyone's health, let alone my own. After weeks in the ICU, I had finally been diagnosed with idiopathic multicentric Castleman disease (iMCD), a strange chimera of lymphoma and autoimmunity, and my doctors had started me on chemotherapy in a last-ditch effort to keep me alive.

Fortunately, the chemotherapy kicked in just in time to save my life. Unfortunately, I would go on to have four life-threatening relapses over the next three years.

I would soon learn that iMCD is the deadliest subtype of Castleman disease, which is diagnosed in approximately 5,000 new patients in the US each year—roughly the same number as ALS. Approximately one-third of patients die within five years of diagnosis, and another third die within 10.

The news soon got worse. When I relapsed on the only drug in development for iMCD, I learned that there were no promising leads and almost no research being done. iMCD is certainly not alone in this. In fact, of the 7,000 rare diseases that affect 30 million Americans, 95 percent do not have a single FDA-approved therapy.

I understood that if I didn't turn my hope for treatments, cures, and a future into action, then no one else would. I've learned that hope should not be a passive concept. It's a choice, and it can be a powerful force.

"If I survive this, I'm going to dedicate the rest of my life—however long that may be—to advancing treatments and curing this disease," I told my family and girlfriend Caitlin between beeps from my IV pole as seven chemotherapies infused into my bloodstream.

I returned to medical school on a mission in 2012. Partnering with my mentor Dr. Arthur Rubenstein and my doctor, Frits van Rhee, MD, PhD, we founded the Castleman Disease Collaborative Network (CDCN) to spearhead a novel approach for advancing research for Castleman disease. In parallel, I began conducting laboratory and clinical research into iMCD, mostly working on the samples that were easiest to access: my own.

But before we had time to make much progress, I had my fifth deadly relapse of intense fatigue, crashing blood counts, and organ failure. I had now failed to respond to every drug that had ever been tried for my disease. Chemotherapy saved my life again, but I needed to identify a drug that could prevent iMCD from coming back.

Developing a new FDA-approved drug takes 10 to 15 years and more than $1 billion. Clearly, I didn't have that kind of time or money. Fortunately, there are more than 1,500 drugs that are already FDA-approved for at least one condition. Many diseases share similar dysfunctional cell types, genes, cellular signaling pathways, and proteins, so I understood that many of these drugs could theoretically be used off label for treating diseases with no other options, like iMCD.

My task became to pore over thousands of pages of my medical records and data from lab experiments I performed on my own samples. I discovered that a key cellular communication line called mTOR was hyperactive. The best part about learning that mTOR was activated is that there is a safe and potent inhibitor of it called sirolimus originally approved for kidney transplantation. It had never been used before for iMCD and there were no guarantees that it would work, but my doctors and I decided to try it.

David Fajgenbaum
David Fajgenbaum, who was diagnosed with Castleman disease in 2010. After finding out there were no treatment options left, he looked to the 7,000 drugs already approved by the FDA to see if one might work. Rebecca McAlpin

Friday marks 68.73 months since my last relapse. This is about nine times longer than my average remissions before starting sirolimus. The .73 is important. I've learned that I can't round up—I may relapse tomorrow. But I also refuse to round down because my team of warriors and I worked really hard for every day that this treatment made possible. I am so grateful for where we are today and for all the amazing individuals who have helped us get here. Still, much work remains for iMCD and many other diseases that so desperately need treatments and cures.

David Fajgenbaum
Ballantine Books

Beyond the hope that off-label drugs provide for patients without any options, there is another important consideration given the recent national uproar over the rising cost of drugs, especially for rare diseases. Drugs originally developed for more common conditions and especially ones that are now generic, are often significantly less expensive, so these drugs could offer new hope and cheaper price tags.

How many of the approximately 1,500 drugs already FDA-approved for at least one disease may be treatments or cures for many of the 7,000 other diseases with no approved treatments?

I know that so many of us hope that many such drugs are hiding in plain sight. Let's do everything we can to turn our hope into action. Patients like me are waiting.

David Fajgenbaum, MD, MBA, MSc is the author of CHASING MY CURE: A Doctor's Race to Turn Hope into Action, co-founder and executive director of the Castleman Disease Collaborative Network (CDCN), and one of the youngest individuals to be appointed to the faculty at Penn Medicine.

Views expressed in this article are the author's own.