Haunted by a Gene - The New York Times

Haunted by a Gene - The New York Times

Haunted by a Gene

For the first time, Nancy Wexler reveals that she has inherited the disease she has spent her life studying.

By Denise Grady

• March 10, 2020Updated 1:05 p.m. ET

Year after year for two decades, Nancy Wexler led medical teams into remote villages in Venezuela, where huge extended families lived in stilt houses on Lake Maracaibo and for generations, had suffered from a terrible hereditary disease that causes brain degeneration, disability and death.

Neighbors shunned the sick, fearing they were contagious.

“Doctors wouldn’t treat them,” Dr. Wexler said. “Priests wouldn’t touch them.”

She began to think of the villagers as her family, and started a clinic to care for them.

“They are so gracious, so kind, so loving,” she said.

Over time, Dr. Wexler coaxed elite scientists to collaborate rather than compete to find the cause of the disorder, Huntington’s disease, and she raised millions of dollars for research.

ue readHer work led to the discovery in 1993 of the gene that causes Huntington’s, to the identification of other genes that may have moderating effects and, at long last, to experimental treatments that have begun to show promise.

Now, at 74, Dr. Wexler is facing a painful and daunting task that she had long postponed. She has decided it’s time to acknowledge publicly that she has the disease she’s spent her life studying and that killed her mother, uncles and grandfather.

“There is such stigma, and such ostracization,” Dr. Wexler, a professor of neuropsychology at the College of Physicians and Surgeons at Columbia University, said in a lengthy interview. “I think it’s important to destigmatize Huntington’s and make it not as scary. Of course it is scary. Having a fatal disease is scary and I don’t want to trivialize that. But if I can say, I’m not stopping my life, I’m going to work, we’re still trying to find a cure, that would help. If I can do anything to take the onus off having this thing, I want to do it.”

Among her greatest concerns are the thousands of Venezuelans from the families full of the disease, whose willingness to donate blood and skin samples, and the brains of deceased relatives, made it possible to find the gene. But they live in an impoverished region, and, Dr. Wexler said, they are still outcasts. The clinic that she and her colleagues opened has been shut down by Venezuela’s government.