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Geneticist Dr. Nancy Wexler Leads the Fight Against One of the World's Most Dreaded Hereditary Diseases

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Geneticist Dr. Nancy Wexler Leads the Fight Against One of the World's Most Dreaded Hereditary Diseases One on 1 Profile: Geneticist Dr. Nancy Wexler Leads the Fight Against one of the World's Most Dreaded Hereditary Diseases By Budd Mishkin Monday, April 4, 2016 at 07:25 PM EDT Dr. Nancy Wexler is a leader in researching one of the world's most dreaded illnesses, Huntington's disease. Her work has global, as well as personal implications — the disease runs in her family, and she’s at great risk of becoming one of its victims. Geneticist Nancy Wexler's efforts to end Huntington's disease have included an almost annual trip to a small remote Venezuelan village where Huntington's is common — and plenty of painful family history. When her mother was diagnosed with the fatal disease in 1968, Wexler's father, Dr. Milton Wexler formed the Hereditary Disease Foundation In all, Huntington's killed Wexler's maternal grandfather, her mother and her mother's three brothers. "I can inherit from my dad, his optimism and his DNA," Dr. Wexler said. "I can inherit from my mom a 50/50 chance of dying of Huntington's. So which option do you think I’m rooting for? So my sister and I each have a 1-in-2 chance of inheriting her lethal disease." Huntington's is perhaps best known as the disease that killed the iconic folk singer Woody Guthrie. The genetic disorder slowly destroys an area of the brain regulating movement and cognition, causing a long and painful physical and mental deterioration. Diagnosis is a death sentence. There is a simple blood test that can determine if you are at risk. But the woman whose work resulted in a test for Huntington's has opted not to take it. "We were going to take the test, you know, why not?" Wexler said. "We were the family that invented it so how could we not take it? And then I started getting nightmares, my sister started getting nightmares, my dad started getting nightmares because you know living with ambiguity is not that bad." As President of the Hereditary Disease Foundation, Wexler reads grant reports, talks to scientists and affected families, and fundraises for research, some of which is conducted at the New York Genome Center in lower Manhattan. "Most of my friends feel the clock ticking," Wexler said. "So if I can get up in the morning and even a little tiny bit make a difference in their lives or my life or my family’s life then that motivates me." After graduating from Radcliffe, Wexler earned a PHD in clinical psychology from the University of Michigan in 1974. There was never much doubt that she would commit her life to working on a cure for Huntington's. It brought her to a place far from the California of her youth and her New York home, a remote part of Lake Maracaibo in Venezuela, where many families are suffering from the disease. Wexler's research teams have visited there since 1979. "The people of Venezuela, I've never met anybody like them really," she said. "Because, they're so graceful and so beautiful. Beautiful of heart and soul and they just keep you motivated." "A mom who had 14 kids, ten of the kids had died of Huntington's and they were participants. And I said to her why do you do this? And she said well, 'Nancy I think you're going to bring us the cure. I do it for my kids.'" In Venezuela, she is known as "Angel Catira." The blonde angel. She says she never has any trouble pulling herself away from the comforts of New York for the poverty and pain of Lake Maracaibo. "It’s harder to come back from there than to leave to go there," Wexler said. "Because you know that the people you’re saying goodbye to are not going to be alive." The research in Venezuela has included more than 18,000 individuals and more than 4,000 blood samples. In 1983, a marker or general location for the gene causing Huntington's was found. Ten years later, researchers found the specific gene. That resulted in a simple blood test that can determine if you have Huntington's or not. But Wexler advises others not to take the test. "They think they are going to find out they don't have it," Wexler said. "Fifty-fifty. Many of them have committed suicide. If their job has found out they are definitely going to get Huntington's, very often they are fired." Wexler's trips to Venezuela have been well-documented over the decades, from the 1980's into the 2000s. "There are almost a thousand people down here carrying this time bomb." She says she ponders her own health every day, and gives herself tasks to determine if she might be developing the disease. "I used to walk on sidewalk, straight line, couldn't do that I would think now I got Huntington's," she said. Nancy Wexler grew up in Los Angeles. Her father was a prominent psychoanalyst whose mantra was "boredom is against your religion." There were trips to art museums, and plenty of music at home. The thinking in 1968 was that women couldn't get Huntington's Disease. But something was wrong with Wexler's mother. "You could see her gait was getting terrible," Wexler said. "She was walking across the street and a policeman screamed at her, 'Aren’t you ashamed of yourself for being drunk so early in the morning. What’s the matter with you?' She saw my dad that night and she was diagnosed with Huntington's." Wexler's sister, Alice chronicled the family's travails in "Mapping Fate: A Memoir of Family, Risk and Genetic Research." "As we all know Huntington's disease can wreak havoc on families and their friends," Alice said. "But in our case it strengthened the bond between Nancy and me." Wexler's partner is Dr. Herbert Pardes, the former President and CEO of New York Presbyterian Hospital. Wexler is 70. She does not have children, a reality affected by Huntington's. "I did decide until there was a test I would not have kids, didn't think it was fair to inflict it on them. If I wasn't around to take care of them and then they got sick." Wexler says once the test was established, she tried to have kids to no avail. She found her surrogate family in a small village in Venezuela. For them and for all of her family members killed by Huntington's, she carries on. "If I find that I'm fine that’s great, I’m still going to devote to curing Huntington’s. If I find that I’m not fine, I’m still going to devote my life to doing that." .
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