Just a little while ago, Kristen Powers was being a rowdy teenager, singing loudly and swaying to an upbeat Katy Perry song in the back seat of her family’s car on the way to a long-awaited appointment.
But now, her face and eyes are still, void of any expression. She is sitting in a hospital examination room, bracing herself to come to terms with the most important news of her young life. After turning 18, she decided to get tested for Huntington’s disease, an incurable neurodegenerative illness that claimed her mother’s life last year at age 45. It is considered a death sentence by many because it can begin debilitating people in their mid-30s, the prime of life.
“We have good news for you today,” says Debbie Keelean-Fuller, genetic counselor at children’s outpatient clinic at University of North Carolina.
“You tested negative.”
The results, Keelean-Fuller adds, mean neither Kristen —profiled in USA TODAY a month ago — nor her children will get Huntington’s. In a nanosecond, a smile bursts onto Kristen’s face, her eyes light up and her father, who is sitting behind her, folds her in his arms.
“These are the same tears (of joy) I cried the day you were born,” Ed Powers says to his firstborn child.
Kristen’s stepmother, Betsy Banks Saul, and best friend, Daniel Woldorff, quickly join in the group hug.
“Oh. My. God.” Kristen says softly with both hands pressing the sides of her face.
Children have a 50-50 chance of inheriting the rare disease from their parents. Kristen Powers told USA TODAY in April she had decided to get genetic testing for two reasons: for herself — “I always craved getting information” — and for the larger Huntington’s disease community.
She said before she got her test results that she would want to be honest about her diagnosis with future partners, and would not have children for fear of passing on the gene. She also said she wants to raise awareness about an illness many families try to hide.
One way she’s doing that is by making a documentary. She has raised more than $18,000 on crowd-funding website Indiegogo to hire a video crew to document her experiences with genetic testing; she is calling the documentary Twitch, after one of the disease’s first uncontrollable symptoms. (Her crew, with her in the exam room, also breathed a sigh of relief.)
“She is going to empower an entire generation at risk of developing Huntington’s disease,” says Mary Edmondson, a psychiatrist at Duke University‘s specialty Huntington’s disease clinic. “The more you can do to empower people, the more they can master the skills required to deal with the disease.”
Edmondson knows the hardships and also the resilience in strong Huntington’s families. Her father died of Huntington’s in 1995, and like Kristen, she decided to be tested. Her results were also negative.
Being at risk causes considerable anxiety, Edmondson says.
“At times it is very intense, with emotions too hot to handle,” she says. “If you allowed yourself to feel them wholly, you’d be overwhelmed.”
Behind the decision to test, she says, is a daunting reality.
“There comes a time when you realize it’s not a question of IF you’ll know; someday everyone at risk learns if they carry the gene. It’s only a matter of when, and who’s in the room with you when you get the news. At that moment, there’s nothing left to do but embrace the fear.”
Kristen says she grew up surrounded by fear and uncertainty. Her parents divorced, and her mother had custody for several years. But when Nicola Powers’ disease progressed and she could no longer care for Kristen and her younger brother, Nate, their father gained custody. Kristen was 9. She recalls her mother stumbling, and walking “like a drunk person at times. That’s before we knew what was wrong with her. It was really scary.”
By the time she was 11, Kristen says, she understood that she was at risk as well. She feels she’s waited a lifetime to learn the truth about her genetic heritage.
Waiting for the news
Last Wednesday night — the night before she would learn her test results — she slept on and off, waking several times, including once to the sound of a friend pinging her. But when she woke up at 6 a.m., she says she felt refreshed.
She got up and decided to wear her mother’s silver heart-shaped locket around her neck.
“It was totally spontaneous,” she says. “I didn’t plan it. I really don’t have many of her things. We lost them all when she was forced to moved into a nursing home. I asked her once if I could have the locket. I remember her smile when she gave it to me.”
Kristen couldn’t break into a full smile Thursday until she gave Nate, 16, the good news. He was sitting in the waiting room, wanting to give her some space. She sends someone off for him. The instant he approaches the exam room, she is waiting at the door and blurts out, “Nate, I tested negative.”
Although he is younger, he towers over her and scoops her up in a hug: “Awesome.”
When someone first gets the news, for a while, there is relief, Edmondson says. But the anxiety never totally vanishes because there is always another sibling or cousin who might be at risk of a disease that can cause mental and emotional problems and affect judgment.
After Kristen tells Nate, her father chimes in with words that are honest but still hard to hear. “Nate, you know Kristen’s results have no effect on yours.”
Keelean-Fuller is watching for Nate’s reaction.
He nods: “I know.”
Nate went to one of Kristen’s earlier appointments with Keelean-Fuller, where the dynamics of family genetics had been discussed.
“I felt it was important to say, because I know how easy it is for me to head off into that kind of thinking,” says Ed Powers. “And Nate and I have discussed this before and will keep discussing it.”
Nate knows that it is now his turn to wait. He decided in the past several months that when he turns 18 he will get tested too.
“I don’t want it hanging over me, and there’s the anxiety,” he says.
Not everyone wants to know
Genetic testing isn’t for everyone, though, and is not conclusive at diagnosing every disease.
“Some people don’t test for Huntington’s because other family members don’t want to know,” says Kristen, adding that one reason a young person might not test is because a positive result would mean a parent would also have the disease. The parent just might not be displaying symptoms yet.
Many people say they wouldn’t want to know, according to James Evans, a medical geneticist and director at the University of North Carolina’s Bryson Program for Human Genetics.
“After I give talks, I ask audiences if they’d want to be tested” for various conditions, he says, “and about half of the audience will raise their hands.”
Keelean-Fuller says one reason some people don’t want to test is insurance-related. Though the federal health care law prevents insurance companies from discriminating against people because of pre-existing conditions, the entire law — or parts of it — could be ruled unconstitutional when the Supreme Court issues a ruling later this month.
“Also, it can be hard for people to get disability insurance, long-term care insurance and life insurance with some conditions,” she says. “Those are very important concerns to families.”
Whatever his own concerns, Ed Powers did not want to hold his daughter back from learning the truth. She builds a good argument, he says, and has ever since entering the fifth grade, when she inspired administrators to start a student council at the elementary school. After he got full custody, she had to change schools. The new school was more than 50 years older than her other school and “not to her liking.”
“She wanted to go back to the other school,” he says . “We talked and I suggested to her, why don’t you draw up a list of things you can do to make this school better and give it to school administrators.”
Kristen came back to her dad with a two-page proposal, which they took to the school.
“She started to learn then about being able to bring about good change,” he says. “They put her in charge of the student council for starters.”
Knowing whether you have the Huntington’s gene, she says, means accepting responsibility for your life. Kristen was prepared to become the face of the disease. She still plans to push for a cure.
“People with positive tests and negative tests go through a year of adjustment,” says Edmondson. “There is an opportunity for tremendous personal growth.”
Kristen graduates from high school on June 9, and will begin college at Stanford University in California in September. She is graduating from high school with honors and leaves behind an activist legacy: She founded the Green Tiger Club, a nationally recognized eco-friendly group dedicated to protecting the environment.
Before leaving the hospital, her step-mom asks Kristen if she thinks she’ll forge a new identity now, since so much of hers has been branded by being at genetic risk.
“I don’t know,” she says, taking a few seconds to think. “I guess so.”
Then she beams again.
Source: USA TODAY