“I have a very rare illness": The unique way patients and scientists are fighting Castleman disease

A first anniversary may not seem like a major cause for celebration, but when it commemorates the launch of a potentially lifesaving endeavor, serious accolades are in order.

The endeavor in question: ACCELERATE—a first-of-its-kind, patient-driven registry dedicated to advancing more understanding of Castleman disease (CD), a rare, life-threatening immune system disorder that can impact either one or multiple lymph nodes.

“The thinking behind the registry is that there are so many unknowns about this disease,” says David Fajgenbaum, M.D., MBA, M.Sc., assistant professor of medicine at the Perelman School of Medicine at the University of Pennsylvania and executive director of the Castleman Disease Collaborative Network (CDCN). “We want to bring together data from hundreds of patients to help iron out an approach to the disease that’s going to save the most lives.”

Dr. Fajgenbaum’s passion for the registry wasn’t just professional. While in his third year of medical school, he began experiencing night sweats, fatigue and weight loss. “I didn’t know what it was, but I knew something was terribly wrong,” he recalls.

Initially, his doctors were baffled, too. After a seven-week stay in the ICU—due to failure of his liver, kidney, heart and bone marrow—he recovered, but there was still no medical consensus as to what had caused the symptoms. Eventually, he was diagnosed with idiopathic multicentric Castleman disease (MCD).

The diagnosis inspired Dr. Fajgenbaum, who was enrolled in the Wharton School at the University of Pennsylvania, to co-found the CDCN with the goal of connecting physicians, researchers, patients, families and industry employees in order to help improve treatment options and survival rates for those with the disease.

Dr. Fajgenbaum would ultimately have five relapses himself, at which point he began taking a drug that was commonly given to kidney transplant patients, based on data from studies conducted by the CDCN. In his new memoir, Chasing My Cure: A Doctor’s Race to Turn Hope Into Action, he chronicles his story of battling the condition.

“I’ve been in remission for four years now,” he says. “I’m feeling well and fighting with all I’ve got to answer all the mysteries of this disease.”

Rebecca McAlpin/Rebecca McAlpin

Since Castleman is a complicated disease with no one-size-fits-all treatment regimen, Dr. Fajgenbaum had the idea a few years ago to create a central registry where patients with the condition could grant access to their medical records.

To get it off the ground, he enlisted three partners: CDCN, the University of Pennsylvania and Janssen Pharmaceuticals, part of the Johnson & Johnson family of companies.

The triparty partnership is unique, as is the way the registry collects data. Typically, registries either rely on physicians or patients to enter medical information. With Accelerate, patients enroll themselves and give permission for their doctors to release their full medical records so Dr. Fajgenbaum and his team can identify insights from all the data available.

To date, Dr. Fajgenbaum has enrolled 160 patients—far exceeding his initial goal of signing up 100 patients over five years. And this year, the registry will expand to include patients in the Asia-Pacific region and Latin America.

While it’s estimated there are 6,500 to 7,000 cases of CD diagnosed every year in the U.S. alone, they’re difficult to track, since the disease is rare and is often misdiagnosed.

“With the registry, we’ll get a more solid number,” Dr. Fajgenbaum says. “As we grow and get our numbers up, there’s going to be a tremendous amount of data for us all to learn from about this disease, such as what causes it, what cells are involved and which treatments are most effective.”

That number includes Carl Guenther, a retired superintendent for Montgomery County in Ohio, who was diagnosed with MCD in July 2005, and given just two years to live.

We sat down with Guenther, who shares what it’s been like to live with the rare condition for the past 12 years, and why a registry like Accelerate can someday help those yet to be diagnosed with the disease.

Meet the inspiring man behind the registry

In this clip, Dr. Fajgenbaum shares his dramatic health journey on the TODAY show.

Watch it now

Carl Guenther: “I was always very active and healthy. I’m a sportsman. I like to hunt and fish.

Then, my wife of 24 years, my high school sweetheart, was diagnosed with ovarian cancer in 2000 and passed away four years later. I was her caregiver, and had two young children to also take care of at the time.

I remember feeling fatigued. I had no appetite. I started losing weight, and my body started to ache. It was like having flu multiplied by 10 all of the time. I thought I was just worn out from the ordeal with my wife. But I woke up one morning with golf ball-sized bumps on my body—behind my ears, on my groin—where my lymph nodes were.

I went to my family physician, who took one look at me and said, ‘Oh, Carl, we need to get a biopsy right away.’ When I asked if she was going to schedule it for the next week, she replied, ‘No—today.’

The surgeon removed a lymph node from my left groin. It took a few weeks to get the diagnosis, which was the longest two weeks of my life. Unfortunately, with Castleman disease, there’s no single test that can definitively say: This is what you’ve got.

I was fortunate, though, that the surgery took place at a county hospital where a new pathologist had just started working. He said, ‘I’ve seen this somewhere before.’ That night, he found a book from medical school that he hadn’t even unpacked yet, and when he located the chapter on Castleman disease, he said, ‘I think this sounds like what he’s got.’

“You Have Two Years to Live”

My family was having dinner at home when the doctor called with the results: I had multicentric Castleman disease. Then he said, ‘I don’t know if we’ve ever had a patient in this area who has this, but according to the information I’m finding, you have two years to live.’

To say I was in shock is an understatement. I was 47. My son was in eighth grade and my daughter was a freshman in high school. They had just lost their mom.

I went to see my late wife’s oncologist, who said he had never treated MCD. I recall him saying, ‘This is what it says we do.’ The chemotherapy he suggested putting me on was one of the same that they’d given my wife. I knew how debilitating it would be, so I asked for a second opinion.

They sent my report to The James Cancer Hospital in Columbus, and the doctors there came back with the same advice. The patients they had treated were unicentric—only one lymph node was impacted. For those patients, they remove that lymph node and you’re typically good for the rest of your life. However, mine was multicentric, so it was in more than one lymph node. The treatment protocol was high doses of steroids and chemotherapy. And they reiterated how, even with that treatment, I had only two years to live.

It really bothered me that none of my doctors had experience treating MCD. I started looking on the internet, and came across a doctor named Frits van Rhee, who was apparently one of the foremost experts on Castleman disease. I emailed him, and he called me 15 minutes later. He agreed that I should be on a high dose of steroids, but he advised me not to start chemo. Instead, he suggested an in-person meeting with him in Arkansas to see if I was a candidate for a new drug he was testing.

I went through five eight-hour days of testing before Dr. Rhee enrolled me in the trial in October 2005. I was treated every other week for a few years. Then it went to every three weeks. After the second or third treatment, my symptoms improved.

One of the hardest things on me was commuting to Arkansas for treatments. It’s 700 miles from where I live. I flew sometimes, but I usually drove. In total, I made 193 trips.

Beating the Odds—and Helping Patients Like Himself

I recently had my 205th treatment. My attitude is: I’m a winner, no matter what. That’s just the way I look at life. I don’t know how you survive something like this if you don’t have a strong belief system.

I’ve since shared my diagnosis and treatment information with the Accelerate registry because it’s important that doctors understand how to diagnose and treat the disease. I wish there had been more information available on Castleman when I first needed it. So many doctors knew very little about my condition. It’s a very difficult disease to diagnose, so any information that would have helped my doctors put all the pieces together would have been helpful.

Also, there appears to be a lot of us with Castleman who had some sort of connection to the wood industry or treated lumber. While in college, I worked summers making and treating posts for fencing. There’s no scientific evidence to prove the connection, but the registry may be able to help determine if there’s a pattern of people with the disease who were exposed to these wood treatment products.”

Dr. Fajgenbaum: “As Carl mentions, there’s no data that connects Castleman and the wood industry, but so little is known about the disease. That’s why we are excited to use the vast amount of data collected through the registry to help identify patterns that may improve its diagnosis, understanding and treatment.”

Guenther: “In hindsight, I did exhibit symptoms long before my diagnosis. There were red flags for 15 to 20 years. When I went hunting, I noticed that I was having a hard time keeping up. My legs were burning because I wasn’t getting enough oxygen. I thought I was just getting older.

When my wife got sick, she encouraged me to get a physical so that I could stay healthy for the kids. When the doctor did a chest X-ray, he found 12 nodules in each lung—another symptom of Castleman. I had a biopsy, which showed they were benign, so I went on with my life. There were signs, but no one put it all together.

I got remarried in 2005. Like me, my wife, Deb, has two children, and we now have two grandkids and one on the way. She encourages me to listen to my body and pay attention. I’m starting to realize that I need to take time for myself. I’ll tell my wife, ‘I’m going out to the woods.’ I like to just sit in and observe nature.

I definitely look at things differently now. As a kid, I remember lying in the grass on my family’s farm and looking up at all the big white clouds. It had been a long time since I did that. Why? Now I’m getting back into that habit. But what had to happen for me to look back up?”

Want to Sign Up for the Registry?

Consider enrolling in ACCELERATE to help researchers who are studying Castleman disease.

Learn more