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“The uncertainty was killing me”: A student’s tale of genetic testing for Huntington’s disease

happyImagine you had a 50 percent chance of being diagnosed with a disease that progressively breaks down the nerve cells of your brain, and that as early as your 30s or 40s you could begin exhibiting a range of symptoms of including involuntary movements, emotional problems and cognitive impairment. Such was the fate of Stanford student Kristen Powers.

Powers was three years old when her mother began experiencing symptoms of an incurable neurodegenerative disorder called Huntington’s disease, which claimed her mother's life in 2011 at the age of 45. By the time she was 11, Powers became fully aware that she and her brother, Nate, had a 50/50 chance of someday developing the disease. Not long after, she learned that a genetic test could tell her if she carried the gene mutation that causes Huntington’s. The only problem was, she had to be 18 in order to take the test.

"The uncertainty was killing me," said Powers, who was recently named one of the “15 incredibly impressive students at Stanford” by Business Insider. "I was constantly thinking about this 'What if?' scenario and it was very consuming in terms of my thoughts and conversations with my best friend. It was getting very tiresome."

But rather than letting frustration and anxiety dominate her life, Powers channeled her energy into producing a documentary film, titled Twitch, about her experience growing up with her mother's illness and the potential of carrying the Huntington’s gene.

"My film helped prepare me a lot because it gave me a sense of control in a process that was, very much, out of my control," she said. "I could distract myself constructively and positively. My film was also a very important process for preparing for the results."

Distraction came in the form of learning the documentary film business before she was barely old enough to drive a car. Powers had to pitch the idea of potential investors, raise money, hire a film crew, learn about film rights and copyright laws, work with attorneys to draft contracts, and make sure the production didn't go broke.

To fund the film, she launched a crowdfunding campaign on Indiegogo. "I had decided that if the fundraising campaign was a failure I would take it as sign that I shouldn't make the film," she said.

But in the end she raised $18,025, 80 percent more than the goal amount. "I was so surprised. I had never raised more than $300. Within the first night we hit $1,000 and we hit our goal amount on the one-year anniversary of my mom's passing," said Powers.

On May 18, 2012, the long-awaited day finally arrived. Accompanied by her family and best friend, Powers took the test that, in her mind, would dictate major life decisions such as if she would have children. When the test results came back two weeks later, she learned the good news: She tested negative.

“You totally blank out when you get news that is traumatic, either in a good way or a bad way, when it’s that important to you," she said. "One of the first thoughts I had was, 'I’m a normal person who could die of anything,' which was true before hand, but I must have assumed I had Huntington’s disease."

Going into the test, Powers felt well-prepared for the outcome no matter what. Still, genetic counselors had warned her that regardless of the results, it would take a year for her to adjust. She believed them, but she didn't fully understand what they meant until she took a design thinking class during her freshman year at Stanford. She realized that up until that point, she had been making two lists when it came to planning her life: the "If I have Huntington’s disease list" and the "If I don't have Huntington’s disease" list. Now she could make one list. "It was really freeing," she said.

Twitch debuted at Stanford last February and since then has had 20 screenings around the world. Powers is currently studying abroad in South Africa, where she plans to also screen the documentary. She's planning more screenings this spring and summer before releasing the film to video on demand.

"The response to the film has been really receptive," said Powers. "In the Huntington's disease community, genetic testing can be very difficult to talk about. I hope that the film erases some the unfamiliarity with the process of being tested for Huntington's disease. On a broader scale, I hope it will start conversations about the idea of universal genetic testing and the ethical dilemmas that come with it."

Previously: Drug found effective in two mouse models of Huntington's disease and Film to document Stanford student's decision to be genetically tested for Huntington’s disease
Photo courtesy of Kristen Powers

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