If you had a 50-50 chance of inheriting a genetic disease, would you get tested to know? Or would you wait for fate to reveal itself years later?
Would your decision change if you knew the disease slowly takes away the ability to walk, talk, and even think?
What if there were no cure?
Kristen Powers posed those questions aloud and then let them hang in the air as she spoke to a dozen middle and high school students. The slender, 19-year-old Stanford University freshman was taking part in a program where undergraduates teach classes on topics of their choosing. Today’s class — “To Test or Not to Test? The Ethics Behind Genetically Inherited disease” — covers a subject that Kristen knows far too much about.
“How many of you know what Huntington’s disease is?” she asked, only to find herself met with a mostly blank faces.
The response wasn’t surprising considering that the disease is uncommon, affecting about 1 in 10,000 people of European ancestry. She pointed at one of the few raised hands. “It’s a disease where your brain cells die, and you start to lose control of your body, and then you die,” said a ninth-grade girl. Kristen paused and nodded. After all, the girl was more or less correct.
Huntington’s disease (HD) is a neurodegenerative genetic disorder that, as it progresses, affects the ability to think, move and feel. Most patients begin to show symptoms between the ages of 30 and 50 and typically succumb to the disease 10 to 25 years after the first symptoms appear.
Each child of a person with HD has a 50-50 chance of inheriting the gene, making this a devastating family disease.
“My mum passed away from Huntington’s in 2011, when she was 45,” Kristen continued, quickly capturing the attention of her audience. The implications were clear to all in the room.
The rapt audience listened as Kristen described herself as "information-needy," so when she turned 18, she decided to get tested for the gene.
“I knew I had to get tested because, if I had HD, I’d have to adjust my timeline for my life," Kristen said. "I’ve always wanted to travel, and I knew that that was something I’d have to do earlier if I tested positive.”
The 9th-grader who had defined HD was now on the edge of her seat, eyes wide open. She looked terrified that her flippant response was predictive of Kristen’s fate.
“So last year I got tested, and I’m happy to say that I tested negative.”
And just like that, the tension in the room lifted.
Life after Testing
Kristen’s negative test result means she will never develop the disease that claimed her mother’s life, and she has no chance of passing it on if she has children.
“It’s actually really weird knowing that I’m never going to get Huntington’s,” Kristen said in a recent interview, “because up until I tested I always assumed that I would die of HD, and it was scary but at least that was certain. As soon as I tested negative I feel like my whole life changed because, all of a sudden, I had no idea what I was going to die of anymore.”
She laughed and continued, “I remember being really surprised and thinking ‘Wow, this is what normal people feel like!’”
Still, Huntington’s Disease remains a prominent part of Kristen’s life. She has devoted herself to raising awareness of the disease and doing what she can to help find a cure. She's a student researcher in a Huntington's project at Stanford and volunteers for the Huntington's Disease Society of America. Perhaps most importantly, she's making a documentary about her genetic testing process.
She says documentaries like "An Inconvenient Truth" and "Food, Inc" inspired her as a "cool way to raise awareness." She started thinking about producing a documentary as she approached her 18th birthday and was considering getting tested. Already she's raised $30,000. She's hired a film crew and editor, and works with them in between attending classes and hanging out with her Stanford roommates.
“School comes first,” she said with a smile. “I’m still trying to pick a major and figure all of that out, very normal college kid stuff.”
Picking up the Camera – Before the Documentary
Kristen was 7, living in Massachusetts, when her parents divorced and she moved in with her mother. It wasn’t long before Kristen started to notice symptoms of her mother’s disease. “I remember her walking around like she was drunk, but that was before we knew what was wrong with her." Kristen now says she can see that her mother had been showing signs of HD for a long time.
Her mother, Nicola Powers, wasn’t diagnosed with Huntington’s until two years later. Within months, her mother’s disease progressed rapidly. Kristen and her younger brother moved in with their dad. Her mother went to live first with her own parents, but soon was placed in a nursing home.
It was during this time that Kristen first brought out her video camera.
“I used to sneak the camera into the nursing home and secretly videotape her,” Kristen said. “My grandma wasn’t a fan of it.”
Her goal was simply to have footage to remember her mother, even if she was so ill. “It was incredibly weird to film,” she recalled. “I wasn’t sure what my mum was thinking of me secretly recording her. She couldn’t speak to tell me if it was weird."
Now, the footage serves as more than remembrance, as much of it has ended up in the documentary. She believes the film, when completed, will help explain and show the effects of Huntington’s Disease.
“I’m incredibly glad I did it,” Kristen said. “Families with terminally ill members should not be afraid to record memories with their loved ones.”
A Family Still At Risk
It is unsurprising that Kristen has continued to dedicate so much of her life to Huntington’s. Her 17-year-old brother, Nate, also has a 50-50 chance of having the gene.
Nate, a junior in high school, becomes eligible for genetic testing in March.
Despite initial hesitations, Nate is now strongly leaning towards getting tested. He said the test results would influence how he approaches certain aspects of his life, such as future relationships.
“I wouldn’t have kids if I tested positive,” he said. “I just know that’s something I wouldn’t want to do because then I might pass [the gene] on.”
Kristen says she is supportive of whatever decision Nate makes about testing, and in the meantime is keeping busy with school and her documentary.
“I still remember the genetic counselor coming in, and sitting down and saying ‘We have good news for you today,’” she said, smiling. “I heard that, and my dad started crying and I couldn’t really process anything. It was just an ‘Oh my god!” sort of moment, and, for now, I’m just going to hope that my family has that moment again.”