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.
Denne historien er fra January 30, 2023-utgaven av The New Yorker.
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Denne historien er fra January 30, 2023-utgaven av The New Yorker.
Start din 7-dagers gratis prøveperiode på Magzter GOLD for å få tilgang til tusenvis av utvalgte premiumhistorier og 9000+ magasiner og aviser.
Allerede abonnent? Logg på
YULE RULES
“Christmas Eve in Miller’s Point.”
COLLISION COURSE
In Devika Rege’ first novel, India enters a troubling new era.
NEW CHAPTER
Is the twentieth-century novel a genre unto itself?
STUCK ON YOU
Pain and pleasure at a tattoo convention.
HEAVY SNOW HAN KANG
Kyungha-ya. That was the entirety of Inseon’s message: my name.
REPRISE
Reckoning with Donald Trump's return to power.
WHAT'S YOUR PARENTING-FAILURE STYLE?
Whether you’re horrifying your teen with nauseating sex-ed analogies or watching TikToks while your toddler eats a bagel from the subway floor, face it: you’re flailing in the vast chasm of your child’s relentless needs.
COLOR INSTINCT
Jadé Fadojutimi, a British painter, sees the world through a prism.
THE FAMILY PLAN
The pro-life movement’ new playbook.
President for Sale - A survey of today's political ads.
On a mid-October Sunday not long ago sun high, wind cool-I was in Harrisburg, Pennsylvania, for a book festival, and I took a stroll. There were few people on the streets-like the population of a lot of capital cities, Harrisburg's swells on weekdays with lawyers and lobbyists and legislative staffers, and dwindles on the weekends. But, on the façades of small businesses and in the doorways of private homes, I could see evidence of political activity. Across from the sparkling Susquehanna River, there was a row of Democratic lawn signs: Malcolm Kenyatta for auditor general, Bob Casey for U.S. Senate, and, most important, in white letters atop a periwinkle not unlike that of the sky, Kamala Harris for President.
