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March 30, 2020

She's studied Huntington's disease all her life. Now, she's opening up about her own battle with the disease.

Daily Briefing

    Nancy Wexler has spent her life studying Huntington's disease—the disease that killed her mother, her uncles, and her grandfather. Now, Wexler for the first time has revealed that she, too, has the disease, Denise Grady reports for the New York Times.

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    A family history

    Huntington's disease has always been a major part of Wexler's life, Grady reports. Wexler's mother, Leonore Wexler, was a geneticist working to find a cure for the disease, which had killed her three brothers and her father. At age 53, Leonore was diagnosed with the disease, as well.

    Each child of a Huntington's patient has a 50% chance of having the dominant gene that causes the disease, Grady reports. The disease itself is rare, affecting roughly 30,000 people in the United States with another 200,000 at risk of developing the disease, according to Grady.

    After Leonore was diagnosed with Huntington's, her ex-husband and Wexler's father, Milton Wexler, who was a psychotherapist, established the Hereditary Disease Foundation in the hopes of finding a cure or treatment for the condition. Wexler, who had received a doctorate in psychology, also chose to dedicate her career to researching the disease.

    Wexler helped care for her mother for the decade following Leonore's diagnosis. "As she became increasingly ill, I dressed her, carried her, helped her brush her teeth and go to the bathroom, fed her, and, mostly, held her and kissed her," Wexler wrote in a 1991 essay. "Her eyes still haunt me with their sadness and fear."

    Leonore Wexler died in 1978 on Mother's Day. Both Wexler and her sister, Alice, knew they had a 50% chance of inheriting and developing the disease.

    Wexler heads to Venezuela

    In 1979, Wexler gathered a team and headed to Venezuela to study a large family affected by the disease that was first described by Americo Negrette, a Venezuelan doctor, in 1955. Researchers believe the family has the highest rate of Huntington's disease in the world.

    Wexler believed that, to find the genetic mutation causing the disease, researchers would need DNA samples from as many of those family members as they could get—but members of the family had long been ostracized by their community, which feared the disease was transmissible. "Doctors wouldn't treat them," Wexler told Grady. "Priests wouldn't touch them."

    Wexler told the family that she and they were similar, and that her family also had the disease. "I fell in love with them," she said.

    Wexler returned to Venezuela multiple times over the course of 20 years, ultimately collecting 4,000 blood samples and tracing Huntington's disease through an extended family that spanned 10 generations and included more than 18,000 people.

    Anne Young, former chief of neurology at Massachusetts General Hospital who made 22 trips to Venezuela with Wexler, told Grady that the trips were "a real testament to how an individual can take a team and get absolutely water out of a brick."

    Young added that Wexler "was just totally charismatic, and when you walked into the room she would hug you and look you in the eye and listen to everything you said. She never thought about herself. She was always thinking about what she could learn from the other person. People became totally devoted to her. Everybody felt like they'd take a bullet for her."

    Four years after Wexler's first trip to Venezuela, Wexler's team in 1983 found a stretch of DNA that served as a marker for the disease and, ten years later, Wexler and her team found the gene associated with the disease—a landmark finding that allowed for the development of a test that could detect whether at-risk patients would develop Huntington's.

    Scientists say that discovery would have never happened had it not been for Wexler, Grady reports.

    A 'ticking' clock

    Despite years of research and knowing their risk, neither Wexler nor her sister were tested for the genetic mutation, Grady writes. Wexler told Grady, "I don't think I could have lived with that knowledge. I think I assumed I wouldn't get it, because I was fine."

    Wexler said it was easier to live not knowing whether she'd develop Huntington's. "Denial is important."

    As Wexler got older, people became concerned about her and Alice's risk of developing Huntington's. "Everybody watched me like a hawk," Wexler said.

    NIH Director Francis Collins, who has worked with Wexler on Huntington's researcher, told Grady, "We knew the clock was ticking for her and Alice." He said, "It was a matter of watching [Wexler] all the time and wondering if she's escaped the curse or is it going to fall on her, too."

    Eventually, Wexler began exhibiting symptoms of the disease and she started noticing them when she saw herself in the mirror or on video. "Every time I saw myself on video, I looked a little bit worse," she said.

    While Wexler preferred not to speak about her condition, her sister encouraged her to publicly acknowledge having the disease, and Wexler eventually announced her diagnosis.

    "I think that one thing her coming out about it will show is that getting a diagnosis of Huntington's disease is not a death sentence," Alice Wexler told Grady. "It's something people can live with for a long time, if they have the right medical care and social services. She has been living her life in a productive way, and still will."

    Wexler said she hopes that her announcement will help destigmatize the disease. "I think it's important to destigmatize Huntington's and make it not as scary," she said. "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."

    Wexler is still working, reviewing grant applications, fundraising for Huntington's research, and going to scientific conferences. "Enjoy life while you can," she told Grady. "Find what gives you some pleasure and go for it. Don't get kidnapped by this" (Grady, New York Times, 3/10).

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