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The Penn doctor who wrote the book on fighting his own rare disease l 5 questions

For patients with Castleman disease, the immune system becomes hyperactive and attacks your body’s vital organs.

David Fajgenbaum is a physician on the faculty at Penn Medicine who has since moved into the forefront of research and advocacy for Castleman disease.
David Fajgenbaum is a physician on the faculty at Penn Medicine who has since moved into the forefront of research and advocacy for Castleman disease.Read moreRebecca McAlpin

The doctors were baffled. This young man in seemingly perfect health was suddenly near death.

Then, nearly miraculously, David Fajgenbaum survived. After multiple relapses and remissions, he has now been symptom-free for 5½ years. He married his college sweetheart and they have a daughter.

But his fight to conquer his rare disorder, Castleman disease, is not over. Fajgenbaum, a physician on the faculty at Penn Medicine who has since moved into the forefront of Castleman research and advocacy, writes about his experience in Chasing My Cure: A Doctor’s Race to Turn Hope into Action, due out Tuesday. A book signing and fireside chat between Fajgenbaum and Angela Duckworth, a 2013 MacArthur Fellow and Penn psychiatry professor, will be held at the Mütter Museum on Sept. 17 at 6:30 p.m.

We spoke to him recently about his experience and his book.

What is Castleman disease? How did you experience it?

It is an immune system disorder that’s like a cross between a cancer and an autoimmune disease. It affects about 5,000 patients a year in the U.S., making it about as common as ALS. It affects individuals of all ages. There are several kinds of Castleman disease. Mine is the most deadly. One-third of patients diagnosed with it will die within five years.

What happens is that the immune system becomes hyperactive. It attacks and shuts down your body’s vital organs. In my third year of medical school at Penn, I went from being totally healthy to going into complete organ failure. It took weeks to diagnose me. I had my last rites read to me. I said goodbye to my family. Fortunately, the chemotherapy I had started several days earlier would save my life. Unfortunately, I would go on to have four deadly relapses — a total of five hospitalizations, each of them for multiple weeks.

When I relapsed while on an experimental drug and learned that there were no other drugs in development, I decided to dedicate the rest of my life, however long it may be, to curing this disease.

I started conducting laboratory research on my own samples. Then I started a foundation, the Castleman Disease Collaborative Network. The goal was to bring together all the researchers and patients so we could come up with a unified plan to accelerate research and increase awareness.

How did being a patient change your outlook of what it means to be a physician and a scientist?

We all want to make progress, and as rapidly as possible. But it gave me a sense of urgency that you can never have unless you have a serious disease or someone you love has a serious disease.

It also made me realize that some things in medicine — hierarchies, the status quo — that kind of made sense to me as a physician, made much less sense to me as a patient. I kept thinking, “I know that’s how it’s always been done, but can’t we figure another way around it?”

In your book, you talk about your new life philosophy of “think it; do it.” Tell us more about that.

When I reflected back on my life, I didn’t regret anything I had done or said. What I regretted was the things I had not done or not said. And I would never get to do or say them. That really pained me. If you think about something and it’s the right thing to do, do it.

There is a clear connection between that concept and another lesson that we need to turn hope into action. Sometimes, hoping can impede action. “I hope a doctor somewhere somehow will be able to identify a drug that will help me.” But at a certain point, I realized that if I didn’t do it, it wouldn’t happen. So I turned my hope for a future, my hope for a cure, into concrete action.

Yes, I was a physician and I did lab research. But what made the biggest difference in the fight against Castleman disease early on was my identifying and connecting this community of patients and researchers online and getting them on the same page. That is not something you need a medical degree for.

I had never worked before to solve a disease. But there were wonderful mentors here at Penn, some wonderful scientists. I realized if I worked really hard and got lucky, I could make some progress. But there was no chance of making progress and getting lucky if I didn’t take action.

Tell us about the new approach to research that you pioneered.

Traditionally, organizations raise money and then invite researchers to apply for grants, based on how they think the money should be used. Then you pick the best applicant. That approach works well for common diseases and diseases where there’s a lot of money, and you can attract hundreds of applicants.

However, in the rare disease space, you might have two or three researchers across the entire globe specializing in it. So with the traditional method, it’s unlikely that any one of those researchers is going to have the right idea at the right time for exactly what needs to be done, or to have the skill set and ability to make progress. That’s like waiting for the stars to align.

For Castleman’s, we started by searching online for all physicians and researchers who had done any research on Castleman’s or who had Castleman’s patients. We contacted them and built a community, then started to include patients. We built a brain trust. Then we asked them to tell us what research questions needed to be asked, what studies needed to be done to answer them, and what researchers might be able to do it. Then, we prioritized that list and began executing each study. It’s a way to make every dollar count. It’s a way to make research more efficient and more collaborative.

We have made a lot of progress. And the “we” I am talking about is an incredible army of Philadelphians. They are researchers. They are volunteers. They are donors. They have changed the face of Castleman’s worldwide. Everyone talks about how Philadelphia is always pulling for the underdog. What’s more of an underdog than a disease that is fatal and we hadn’t made progress on it in 60 years? This is a city where people say, “I’m going to give it a shot.” And they have.

We still have a long way to go and need continued support from the Philadelphia community. But before, there was no diagnostic criteria, no treatment guidelines. Now there are. And we now have at Penn the first ever clinical trial for treatment of Castleman’s in patients that fail to respond to what is currently the only FDA-approved drug for the disease. This other drug is approved for kidney transplantation to keep the body from rejecting the transplanted organ. But based on our research, I decided to try this drug on myself. It’s saving my life. It’s helped a number of other patients, too.

This is an important opportunity in medicine. There are 7,000 diseases that don’t have any FDA-approved drugs. How many drugs like this, approved for one disease, may be treatments or cures for another disease?

What advice do you have for people — and their loved ones — battling serious illnesses?

If they want something to happen, a positive outcome, then I encourage them to be advocates and to search out second opinions. If they’re well enough, perhaps they could be part of advancing research for that particular disease. I understand that there is often a sense of, “Can I really make a difference?” But we would never make progress if everyone assumed they couldn’t make a difference. And our work for Castleman’s shows that progress is possible.

Also, you learn a lot about living from nearly dying. The lessons I learned are ones I don’t want other people to have to wait until their deathbeds to learn. A couple of my favorites are: Think it; do it. Create silver linings in the midst of difficult life experiences. This is a book about my effort to identify a drug for me, but it’s also a universal tale about getting up and fighting back after life has knocked us down. I hope lessons from my experience can help others.