Genetic testing: Does Kristen Powers have mom's fatal gene?

CHAPEL HILL, N.C.�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 nor her children will get Huntington's. In a nanosecond, a smile bursts onto Kristen's face, her eyes light up and her father folds her in his arms.

Genetic testing and disease: Would you want to know?

This behind-the-scenes look at a young woman�s decision to test for Huntington�s disease, an incurable hereditary disease, is the second in a series.

Part 1: Kristen's story

"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 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. 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 also at risk. She feels she's waited a lifetime to learn the truth about her genetic heritage. Nate has also decided to test for Huntington's when he turns 18.

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 whether they have the disease, 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."

Accepting responsibility

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," says Edmondson. "There is an opportunity for tremendous personal growth."

Kristen graduates from high school on Saturdayand will begin college at Stanford University in California in September.

Before leaving the hospital, her step-mom asks Kristen if she thinks she'll finetune her 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. When asked whether she has started making plans for the future, she draws a blank again. Her head is still back 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 the Huntington's-free teen heads to school to tell her friends the good news and rejoice.