When Emily’s test results arrived in the spring of 2007, Stettner had to deliver the news over the phone. Sarah was in the hospital that day with digestion problems.

Susannah admits she felt ambivalent about her sister’s test result. “I felt like I should be really happy for her, but it was hard because that is when I said, ‘Okay, I definitely think I have it now,’” she says. She asked to be tested shortly thereafter, but both Sarah and Stettner agreed that it would be best for the sake of sibling harmony if Susannah waited a bit longer. “We both thought, ‘Let’s let Emily enjoy this for a little while,’” says Stettner. “If Susannah tests positive, all of the sudden all of the attention will be focused on Susannah, and the happiness from Emily’s result will be overshadowed.”

Six months later, Susannah again said she was ready. There was some hesitation about her age: Generally, minors aren’t given genetic tests out of concern that they don’t have the emotional maturity to cope with the results. But Stettner had worked with the Gilberts long enough to know that Susannah was special. She was a thoughtful young woman who explored her ideas through writing and photography. She understood the disease. She understood the odds. And most of all, she wasn’t fazed by what the test might mean.

“To a lot of kids my age, cancer is this big scary thing. (To them,) people get cancer and die,” Susannah says. “To me, it’s part of my life. It’s part of how I grew up. I just want to know so I can process (it), make plans and get on with my life.”

-:-

TWO WEEKS PASSED, and Susannah returned to the counseling room in the cancer center. Stettner sat down at the table and exchanged brief pleasantries with Susannah and her parents. But this time, there was no long discussion about statistics. Stettner turned immediately to her results.

Susannah was positive.

Susannah’s face reddened, and water welled in her eyes. She stared at the table, afraid to look at her parents and lose what composure she was managing to hold on to. Stettner waited, letting the emotion roll over her. Susannah exhaled deeply, then looked up, ready to listen again.

There was more talk about Lynch Syndrome and how good it was to know early. Then the Gilberts drove home. In the car, Susannah slept, while Sarah stared ahead in silent reflection, moving through waves of successive emotion. She felt sadness and guilt, but also hope that Susannah’s cancers would be caught much sooner than her own had. And she realized that she was no longer alone.

Possessing a genetic mutation can be a lonely burden, especially for a rare condition like Lynch Syndrome, which affects only a fraction of 1 percent of the U.S. population. When Sarah had been diagnosed, she had set out to contact others with the disease, hoping to form a support group in her area. She soon realized that there weren’t any others to be found. She once wrote a poem expressing her envy of breast cancer survivors, with their immense support network and pink ribbons. There were no ribbons for Lynch Syndrome.

But Sarah has found comfort in her family, who have accepted her struggles with light-hearted grace. They helped Sarah find the humor in her condition, joking that she should have a zipper installed on her abdomen to give doctors easy access. Now she could provide that support for her daughter.

“It would be a happier thing if I was an island. But, on the other hand, what a bonding,” says Sarah. “And maybe I can help Susi just by being a survivor and being there for her—a little camaraderie.”

As they neared Appleton, Sarah called Emily, who had stayed home to cook one of Susannah’s favorite dinners, lasagna. Emily had been on tenterhooks all afternoon, and the news was deflating. “I felt sort of guilty that she had it, and I didn’t,” says Emily. That night, the family watched a movie. Nobody talked about the test. Two months later, the sisters still hadn’t talked about it directly.

Talking about it, in fact, turns out to be the worst part, Susannah says. At least for now. “One of the hardest things has been telling my friends, because teenagers don’t do this sort of thing well. They either blow it off or start looking at you like you’re terminally ill,” says Susannah. Adults aren’t much better. Susannah doesn’t like hearing about her “strength.” Nor does she like saccharine assurances about the phenomenal leaps and bounds medicine will make in upcoming years.

For now, Susannah’s day-to-day life is very much the same. During the day, she studies under the guidance of her mom. She babysits the neighbor kids for extra cash and spends it hanging out with friends. She is learning how to drive. The banality of it all “kind of bugs me in some ways,” she says. “There’s nothing I can do right now. I just know.”

But there are other signs that the tiny mistake in Susannah’s DNA has begun to creep into her consciousness, defining more than just her biological function. “I think it’s going to be one of those things that’s always just at the back of my mind whenever I’m making decisions,” she says. “The doctors have said that if I want to have kids, I need to have them young, like before I’m 30 preferably, because that’s when mom got her first cancer. It’s kind of weird to have to think about that now, and to (know that) if I want to get married I need to find somebody who I know can handle going through this with me. In some ways, I’m thinking farther ahead than I should have to.”

This fall, Susannah starts her junior year in high school. Although she’s determined to take life as it comes, she knows bigger challenges are ahead. Right now, she’s thinking about college. “The other day,” she says, “I said to myself, ‘I should find one near a nice hospital.’”

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Tags: DNA, Genetic counseling, Genetic testing, Genetics
Posted in Fall 2008, Featured, Health | 1 Comment »