Nobody Has My Condition But Me | The New Yorker
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Medical researchers find my genetic mutation endlessly fascinating. But being unique isn’t a plus when you’re a patient.
Save this story Save this story 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-eight-year-old woman, had survived for so long without serious infections. Even more puzzling w
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