PERSONAL HISTORY- ONE OF A KIND

When you're a medical patient, being unique can have its drawbacks.

- BEVERLY GAGE

In early 2021, Dr. Michael Ombrello, an investigator at the National Institutes of Health, received a message from doctors at Yale about a patient with a novel genetic mutation—the first of its kind ever seen. A specialist in rare inflammatory and immune disorders, Ombrello was concerned by what first-round genetic tests showed: a disabling mutation in a gene, known as PLCG2, that’s crucial for proper immune functioning. It was hard to discern how the patient, a forty-eightyear-old woman, had survived for so long without serious infections. Even more puzzling was the sudden onset of severe joint pain and swelling she was experiencing after years of excellent health. He decided to bring her to the N.I.H. campus, in Bethesda, Maryland, to study her case first hand.

That’s how I ended up as a patient in his clinic on a sweet, warming day in April, 2021, just as the cherry blossoms in the Washington area were in full bloom. As a historian and a biographer, I am used to conducting research, examining other people’s lives in search of patterns and insights. That spring, I became the research subject. At the N.I.H., Ombrello’s team took twenty-one vials of my blood and stored a few of them in liquid nitrogen for future use. Scientists outside the N.I.H. began to study me, too. In the past few years, my case has been examined by specialists at Yale, Harvard, Columbia, and the University of Pennsylvania—by immunologists, rheumatologists, dermatologists, pulmonologists, and experts in infectious disease. It has been debated at hospital grand rounds and global medical conferences, and in high-powered conference calls. There are PowerPoint decks about it.