June 5, 2012
(USA TODAY) -- A little while ago, Kristen Powers was being a rowdy teen, singing and swaying to an upbeat Katy Perry song in the back seat of the family car headed to a long-awaited appointment.
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 neuro-degenerative illness that claimed her mother's life last year at age 45. It is often considered a death sentence because it can debilitate people in their mid-30s, the prime of life.
"We have good news for you," says Debbie Keelean-Fuller, genetic counselor at children's outpatient clinic at the University of North Carolina. "You tested negative."
The results, Keelean-Fuller said Thursday, mean neither Kristen nor her children will get the disease. In a nanosecond, a smile bursts onto her face, her eyes light up and her father 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.
"Oh, my God," Kristen says softly.
Children have a 50-50 chance of inheriting the rare disease from their parents. Kristen Powers told USA TODAY in April 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 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 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."
Kristen grew up surrounded by fear and uncertainty. 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 knew she also was at risk. She feels she has waited a lifetime to learn the truth about her genetic heritage. She says she slept well the night before getting her test results, although she woke several times to the sound of friends pinging her. When she got up Thursday, she put on her mother's locket. "It was spontaneous. I didn't plan it. I was remembering the smile she had on her face the day she gave it to me."
First relief, then anxiety
When someone first gets the good news, there is relief, Edmondson says, but the anxiety never vanishes because there is always another sibling or cousin who might be at risk of a disease.
Kristen's brother, Nate, 16, has also decided to test for Huntington's when he turns 18.
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 a young person might not test because a positive result would mean a parent would also have the disease but might not be displaying symptoms yet.
Many say they wouldn't want to know whether they have the disease, says 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, Evans says, "and about half of the audience will raise their hands."
Keelean-Fuller says one reason some 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 by the Supreme Court this month.
Knowing whether you have the Huntington's gene, Kristen says, means accepting responsibility for your life. She 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," Edmondson says. "There is an opportunity for tremendous personal growth."
Kristen will graduate from high school Saturday and will begin college at Stanford University in California in September.
A new identity?
Before leaving the hospital, her stepmom, Betsy Banks Saul, asks Kristen whether she'll fine-tune her identity since so much of it has been branded by being at genetic risk.
"I don't know," she says, taking a few seconds to think. "I guess so."
When asked whether she has started making plans for the future, she draws a blank again. Her head is still in the exam room. "All I can hear is, 'We have good news,' and the rest is a blur," she says.
Then Kristen gets in her dad's car and heads to school to tell her friends the good news and rejoice.
Copyright 2012 USA TODAY, a division of Gannett Co. Inc.