Range - David Epstein Page 0,75

her bag with articles to bring home over college break. One day, she found her father flipping through them. He had all the symptoms, he told her. “Well, yeah, I know . . . the arm, and the neck,” Jill replied. No, he said: the cardiac symptoms.

For years Jill’s father had been told that his irregular heart rhythms were due to a virus. “It’s not,” Jill told him instantly. “We have Emery-Dreifuss.” She took her forty-five-year-old father to the Iowa Heart Center and insisted that a cardiologist see him. Nurses demanded a referral, but Jill was so persistent that they relented. The cardiologist put a monitor on her dad that tracked his heart’s electrical activity for a day, during which his pulse dropped into the twenties. He was either ready to win the Tour de France or about to drop dead. He was rushed into emergency surgery for a pacemaker. “She saved her dad’s life,” Jill’s mother, Mary, told me.

Still, the Iowa Heart Center could not confirm the family condition. In her reading, Jill came across an Italian research group searching for families with Emery-Dreifuss. They were hoping to locate a gene mutation that caused it.

Nineteen-year-old Jill put on her most imposing navy pantsuit, took her papers to a neurologist in Des Moines, and asked to be connected to the Italian study. “No, you don’t have that,” she recalled the neurologist saying sternly. She refused even to look at the papers. In fairness, Jill was a teenager self-diagnosing an extremely rare disease known to occur only in men. So in 1995 she wrote to the Italians, and included a picture of herself.

The response she got from the Istituto di Genetica Biochimica ed Evoluzionistica was clearly meant for a scientist. Please send DNA from the entire family, it read. “If you cannot prepare DNA, just send fresh blood.” Jill convinced a nurse friend to smuggle needles and test tubes to her house. Fortunately, Italy accepted blood by normal mail.

It would be years before Jill heard from the Italians again, but she had made up her mind. On her annual trip to the Mayo Clinic, against her mother’s protestations she took her own pen and wrote “Emery-Dreifuss” on her medical chart.

In 1999, she got an email from Italy. She let the moment sink in, and then clicked. She had a mutation on a gene known as LMNA, or the lamin gene, colloquially. Her father did too. So did two brothers and a sister. So did four other families in the study with Emery-Dreifuss. Jill had been right.

The lamin gene carries a recipe for constructing a tangle of proteins at the center of every cell that influences how other genes are switched on or off, like lights, changing how the body builds fat and muscle. Somewhere along the three billion Gs, Ts, As, and Cs in Jill’s genome, a single-letter typo just happened to be very poorly placed.

Jill was happy to have helped discover a new disease-causing mutation. And yet “it’s almost darkly comical,” she told me. “It comes down to a G that was changed to a C.”

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Jill’s father was sixty-three, in 2012, when his heart finally failed.

By then, Jill had transitioned to a motorized scooter, gotten married and had a son, and retired from her medical detective work.

Days after their father passed, her younger sister showed her a picture online of an extremely muscular Olympic sprinter who was conspicuously missing fat. “I took one look at it, and just . . . what?! We don’t have that. What are you talking about?” Jill said. Then she got curious.

Jill had actually wondered about fat for a long time. Like muscle, it was noticeably absent from her limbs. More than a decade earlier, when she was twenty-five, a lab director at Johns Hopkins heard about her and, wanting a real-life lamin mutant in the lab, offered her a summer internship perusing journals for any condition caused by a lamin mutation. She came across an incredibly rare disease called partial lipodystrophy, which causes fat on the limbs to disappear, leaving veins and muscles shrink-wrapped in skin. Again, Jill saw her family. Could she have not one, but two ridiculously rare genetic diseases? She pestered doctors at a medical conference with photos. They assured her she did not have lipodystrophy, and diagnosed her with something more common: intern syndrome. “Where you have a medical student introduced to a lot of new diseases,” Jill said, “and they keep thinking they have what