ONCE UPON A GENE - EPISODE 043 - David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action
David Fajgenbaum, MD, MBA, MSc, is a groundbreaking physician-scientist, disease hunter, speaker, and author of the national bestselling memoir, Chasing My Cure: A Doctor's Race to Turn Hope Into Action.
EPISODE HIGHLIGHTS
Can you tell us about your diagnosis of idiopathic multicentric castleman disease (IMCD)?
I was a healthy third year medical student at the University of Pennsylvania. Out of nowhere, I became incredibly sick and was hospitalized due to my kidneys, liver, heart and lungs shutting down without a clear reason why. I gained roughly 70 pounds in fluid and even had my last rights read to me because doctors were convinced I wouldn't survive. Thankfully, the right treatment saved my life, but I have since relapsed again and again. Idiopathic multicentric castleman disease (IMCD) is a rare condition where the immune system attacks and shuts down vital organs and systems with no known cause. It's hard to treat conditions when you don't know what causes them, which sent me on an odyssey to chase my cure.
What were your symptoms and how quickly were you hospitalized?
My first symptom was fatigue and it became so bad that I would have to lay down in seven minute increments between patients. I was so tired that I couldn't be awake for more than ten or fifteen minutes at a time. I then noticed lumps in my neck which were enlarged lymph nodes and fluid accumulating at my ankles because my liver and kidneys were shutting down. I had abdominal and chest pain as well. I put it all aside until it became too much. I thought I was dying.
How did you eventually get a diagnosis?
After I went home, I wasn't willing to go back to normal and spent weeks pouring through medical records, even records from when I was a kid. In just a couple weeks, the fatigue came rushing back, a sure sign my disease was coming back. Within just a couple of days all the organs started shutting down again and I was back in the hospital. I had gotten out of the hospital after about 6 months, had gone back to medical school and was on an experimental drug. Then, a year later I relapsed again. I flew to Little Rock to see the world's expert on Castleman's Disease. I was immediately hospitalized and started chemotherapy. The doctor explained that I failed to respond to the only drug in development for the disease. There were no leads and no researchers working on a breakthrough. I realized there was no going back to a normal life unless I did something about it. I turned my hope into action so I could live my life. I studied my disease from every angle possible to figure out if there were a drug that could take it down- something already approved for treatment of something else.
What incentives need to be in place to encourage researchers and doctors to explore drug re-purposing?
I am talking to you today because of a repurposed drug and feel strongly about doing what I can to get this concept out around other rare diseases. I don't think I've come up with any brilliant ideas but I think about it a lot. I helped to propose a bill to make it so that if a drug is approved for a common condition and the studies prove that it works for a rare disease, it gets an added 6 months of market exclusivity. That doesn't address all the drugs that are already generic. There needs to be a concerted effort that explores what drugs are out there that could be treatments and cures for diseases that don't have any. We need to think of creative ways to use artificial intelligence to predict drugs that are likely to help people and move those along to clinical trials.
At what moment did you realize you had found a potential solution for you?
I was engaged and all I wanted was to make it to my wedding day. I had been in and out of the hospital so much that I wasn't looking for heroics. I wanted to find a drug that already existed that could get me to our wedding date. I went through all of my data, did experiment after experiment, reanalyzed data from every angle and I came up with a theory that MTOR, a communication line of my immune system, was contributing. There's a drug that inhibits that particular communication. Before I started testing it on myself, I did a final experiment to prove my hypothesis. I compared my lymph nodes to normal lymph nodes, repeated it a few times and proved to myself that my MTOR was definitely on. There were no guarantees, but there also weren't any other options so I shared the data with my doctors and they agreed that I was onto something. They wrote the prescription, I started taking the medication and hoped that I would make it to my wedding day.
You created a first-of-its-kind program in memory of your mom for young people grieving the loss of a parent. Can you tell us more about that?
This is a reflection of the wonderful person my mom was. After she passed away, I found myself devastated. I wanted to put my sadness into something positive and told my mom before she passed that I would create something in her memory. When you make a promise to someone like that who you love so dearly, you go to the ends of the Earth to make that promise a reality. I talked to other people and was shocked when I learned how many people in my network had gone through similar situations. One of my closest friends' mom died of brain cancer two years before and had never mentioned it to me. It became clear that a big problem with grief is the silence we have. I started AMF, named after my mom, Anne Marie Fajgenbaum. AMF also stands for actively moving forward and it's open to any college student coping with the death or illness of a loved one. My best friend and I created a non-profit called National Students of AMF so we could spread it nationwide.
What can you share with people who are impacted by a rare disease that don't have a lot of patients, money or organization?
If you are battling a rare disease or are caring for someone, the number one priority has to be on your battle. If there's bandwidth on top of that, then there are things we can all do to move closer to treatments. Get connected with a doctor or researcher to see what they need and how you can encourage them to move forward or start a fundraiser. Anyone can assemble a team to start making progress.
LINKS AND RESOURCES MENTIONED
Castleman Disease Collaborative Network
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