As a scientist, Nancy Wexler always thought she would want to know. Since watching her mother die in 1978 of Huntington's disease, the 41-year-old Columbia University neuropsychologist has wondered if she too will develop the untreatable and fatal brain disorder. She was all too aware that a child with a Huntington's parent has a 50% chance of contracting the inherited disease, usually between the ages of 35 and 45. Now the answer is hers for the asking, thanks to a complex chromosomal test Wexler herself helped devise.
Last month that test was given for the first time to two young adults at the Johns Hopkins Hospital in Baltimore. Both tested positive, and must now live with the grim certainty of developing the disease, which causes progressive dementia and loss of body control. And suddenly Nancy Wexler is no longer sure she wants to know her fate. "Before the test, you can always say, 'Well, it can't happen to me,' " says Wexler, who is president of the Hereditary Disease Foundation. "After the test, if it's positive, you can't say that anymore."
Wexler is not alone in her dilemma. More than 100,000 Americans with a family history of Huntington's live with the knowledge that they may have inherited the defective gene. Like Wexler, many have decided not to have children, and are likely to be ambivalent about taking the test once it is no longer experimental. Recognizing how devastating a positive test result could be, Johns Hopkins, Columbia University and Massachusetts General Hospital are conducting a three-year study to determine the emotional impact of early diagnosis. "We're trying to find out what type of psychological care these people will need," says Jason Brandt, a Johns Hopkins neuropsychologist. "Will their families break up? Will they be unable to concentrate on their jobs?"
Small-scale studies have shown that people who know they are at risk have a high rate of depression and behavior disorders, and that 25% of those who are diagnosed with early symptoms of the disease attempt suicide. Says Brandt: "We'll stop doing the test if we see we're doing more harm than good."
Huntington's strikes about one in every 20,000 people eventually killing so many cells at the center of the brain that a gaping hole is created. But the first symptoms, such as irritability and depression, are often subtle. "We just thought it was an extreme mid-life crisis," says Wexler, recalling the onset of her mother's illness. "We blamed it all on Betty Friedan." Next come the neurological and motor effects that are often mistaken for drunkenness: slowed thought processes, slurred speech, impaired memory and problem-solving abilities. In the later stages of the disease, the patient is seized by uncontrollable jerking movements.