My Genetically Altered Life
A radiologist recounts her journey as a patient undergoing treatment for lymphoma — and its impact on her as a physician.
Wolverine, Spiderman, Wonder Woman, and Deadpool — superheroes most of us love. Why? They have super powers and escape death because of some type of genetic alteration. Humans have always been fascinated with escaping mortality.
I should be dead, probably two years ago. But I am alive. Although I do not have a super power, I am a genetically altered human.
My story began eight years ago, when I was 48. I was practicing radiology with a large group, mothering three kids with a supportive husband, running races, and eating healthy. Twenty-four hours after I felt a 14-mm supraclavicular lymph node, I made the diagnosis when I looked at the CT monitor — lymphoma.
Six years later, after 14 rounds of chemotherapy with 16 different poisons, four lymph-node biopsies, three indwelling ports, four lumbar punctures, three bone marrow biopsies, septic shock, a broken arm, complete hair loss twice, and head-and-neck radiation, I stepped off a PET/CT scanner and immediately saw the multiple hypermetabolic lymph nodes. I broke down and sobbed. My diffuse large B-cell lymphoma had relapsed nine months after an autologous stem cell transplant. A few days later, I was told that I had no allogenic bone marrow match, and my life expectancy was six months or less without treatment.
Being a physician-patient has some advantages. Reading the research literature in lymphoma, I knew that CAR T-cell therapy had shown promise in phase 1 trials. CAR T-cell is a process in which T-cells are removed from a patient using apheresis and the cells modified in a specialty lab. A viral vector is used to insert a CAR protein into the T-cells. When the T-cells are reinfused, they attack all B-cells carrying the CD19 antigen, normal and abnormal. The process results in an acquired, manageable immunodeficiency and, hopefully, complete remission. Desperately searching for an open space in a Phase 2 trial, I found one open spot in the United States. It was like winning the lottery. There was hope.
My T-cells were removed in May 2016. Although I was supposed to be reinfused in July 2016, there were laboratory and FDA delays. At first, I was given a bridging chemotherapy, but the therapy was discontinued prior to treatment. During this delay, there was rapid clinical progression of my disease with my palpable lymph nodes doubling in size every few days, which was both frightening and surreal.
Finally, on Sept. 14, 2016, I received my tiny bag of 6 million CAR T-cells via a quick IV flush. A host of medical personnel were in the room for the infusion completing my genetic alteration. Now we would wait, but not for long. Twenty-four hours after infusion, I had a low-grade fever, and my lymph nodes began to melt like ice cubes. Five days later, almost all the lymph nodes were gone as the side effect of cytokine release syndrome (CRS) began. I had Grade 2 CRS with a fever of 104 degrees and marked hypotension. Four weeks after the infusion, I returned to work — with all of my hair. Three months later a complete remission was confirmed. I had been given a second chance at life.
The JULIET trial was a success with 40 percent of patients obtaining a complete remission. The CAR T-cell product, KYMRIAH, was approved by the FDA in 2017, so others may now receive this treatment. Phase 1 trials of new CAR T-cell products have begun in several solid tumors, including stage 4 breast cancer.
Becoming a physician was a lifelong dream, and I remain dedicated to the field of radiology. Grateful to be working, I have a special connection to cancer patients. With my second chance, I am relishing life including becoming open water dive-certified three months after CAR-T. I have been diving in Tahiti, climbed up Skellig Michael in Ireland, hiked in Chilean Patagonia, and have run the Cooper River Bridge Run twice. Furthermore, I remain committed to giving back by fundraising for cancer charities, including the Lymphoma and Leukemia Society. Like many of you, I have interpreted hundreds of thousands of images. However, ironically, my greatest contribution to medicine may not be as a radiologist but as a patient.
Robyn L. Stacy-Humphries, MD, is a radiologist with Charlotte Radiology in North Carolina.