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Patient lives with deadly gene

The Baltimore Sun

The test, the counselor said, had come back positive.

Katharine Moser inhaled sharply. She thought she was as ready as anyone could be to face her genetic destiny. She had attended a genetic counseling session and visited a psychiatrist, as required by the clinic. She had undergone the recommended neurological exam. And yet, she realized in that moment, she had never expected to hear those words.

"What do I do now?" Moser asked.

"What do you want to do?" the counselor replied.

"Cry," she said quietly.

Her best friend, Colleen Elio, seated next to her, had already begun.

Moser was 23. It had taken her months to persuade the clinic at New York-Presbyterian Hospital/Columbia University Medical Center in Manhattan that she wanted, at such a young age, to find out whether she carried the gene for Huntington's disease.

Huntington's, the incurable brain disorder that possessed her grandfather's body and ravaged his mind for three decades, typically strikes in middle age. But most young adults who know the disease runs in their family have avoided the DNA test that can tell from birth whether they will get it, preferring the torture - and hope - of not knowing.

Moser is part of a vanguard of people at risk for Huntington's who are choosing to learn early what their future holds. Facing their genetic heritage, they say, will help them decide how to live their lives.

Yet even as new DNA tests are revealing predispositions to all kinds of conditions, including breast cancer, depression and dementia, little is known about what it is like to live with such knowledge.

"What runs in your own family, and would you want to know?" said Nancy Wexler, a neuropsychologist at Columbia and the president of the Hereditary Disease Foundation, which has pioneered Huntington's research. "Soon everyone is going to have an option like this. You make the decision to test, you have to live with the consequences."

On that drizzly spring morning two years ago, Moser was feeling her way, with perhaps the most definitive and disturbing verdict genetic testing has to offer. Anyone who carries the gene will inevitably develop Huntington's.

She fought her tears. She tried for humor.

"Don't let yourself get too thin," said the clinic's social worker.

"Not a problem," Moser responded, gesturing to her curvy frame.

Then came anger.

"Why me?" she remembers thinking, in a refrain she found hard to shake in the coming months. "I'm the good one. It's not like I'm sick because I have emphysema from smoking, or I did something dangerous."

The gene that will kill Moser sits on the short arm of everyone's fourth chromosome, where the letters of the genetic alphabet normally repeat C-A-G as many as 35 times in a row. In people who develop Huntington's, however, there are more than 35 repeats.

No one quite knows why this DNA hiccup causes cell death in the brain, leading Huntington's patients to jerk and twitch uncontrollably and rendering them progressively unable to walk, talk, think and swallow. However, the greater the number of repeats, the earlier symptoms tend to appear and the faster they progress.

Moser's "CAG number" was 45, the counselor said. She had more repeats than her grandfather, whose first symptoms - loss of short-term memory, mood swings and a constant ticking noise he made with his mouth - surfaced when he turned 50. But it was another year before Moser would realize that she could have less than 12 years until she showed symptoms.

In the tumultuous months that followed, Moser often found herself unable to remember what normal had once been. She forced herself to renounce the crush she had long nursed on a certain firefighter, sure that marriage was no longer an option for her. She threw herself into fundraising in the hopes that someone would find a cure. She never, she said, regretted being tested. She was the same, but she was also different. And there was nothing she could do.

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