On Medicine: When You Know What You Know Part 2: Patients learn how to go on with their lives after being diagnosed with Huntington's Disease. Mike Field -------------------- Staff Writer Inevitably, when families afflicted with Huntington's disease meet, conversation eventually turns to the hope of a cure. "What people really care about is the research," said Claire Levy, social worker with the Maryland chapter of the Huntington's Support Group. Levy conducts monthly support group meetings, answers the Huntington's disease hotline, helps write the organization's newsletter and assists those afflicted with the fatal neurological disease as well as the friends and family members who must cope with the disease's relentless progression. Hope is always an important factor in coping with illness, especially in diseases like Huntington's, where the research is promising but the reality still grim. "A patient's response to diagnosis often has to do with the parent's experience," said Mary Louise Franz, a social worker and clinical investigator in the Hopkins Huntington's Disease Research Project. Often, it is Franz who must help patients cope with the disease. "If your mom died horribly in a state hospital without pharmacological treatment, you will tend to have a different reaction than if the family loved and cared for the person until the end," she said. "Family history has a lot to do with people's reaction to the disease, and their willingness to be tested." Huntington's disease, or HD, is an inherited autosomal dominant trait, which means each son or daughter of an affected person has a 50 percent chance of developing the disease. Those without a biological family history of Huntington's are not at risk and are, therefore, ineligible for the testing program, which is funded by research grants and is thus able to offer its services without fees. Just the decision to initiate the testing process can sometimes lead to a diagnosis. Jason Brandt, director of the Hopkins presymptomatic testing program for HD (The Gazette, 4/29/96) estimates that nearly a fifth of all participants are already manifesting symptoms of the disease by the time they come in. These individuals are evaluated clinically and given a diagnosis based on a neurological examination. "For many of the people who come in who are already clinically affected the diagnosis is often a relief," Brandt said. "To have someone finally provide an explanation for their irritability, their cognitive difficulties or their involuntary movements in some way removes the responsibility. 'OK,' they can say, so that's what it is, it's the disease.'" The neurological examination is followed by a psychiatric interview and extensive psychological testing. Then, education and counseling begin. Finally, the actual DNA analysis is performed and the results disclosed. During each of the sessions, participants are required to bring a not-at-risk partner-- generally a spouse or close friend--who lends support and guidance and provides a vital unbiased link between patient and caregivers. "The counseling phase is absolutely critical," Brandt said. "Because we've been able to include intensive, focused counseling sessions we've found that people have generally coped well when they've received bad news. We have not seen much in the way of psychological morbidity. Of course, we wonder about long-term reactions, but we've been at this long enough now that we're beginning to see some of the diagnosed patients begin to get sick." One aim of the study is to try to predict which individuals will have a hard time with positive test results (indicating they have the disease) and which individuals, in Brandt's words, "will sail right through." As yet, no definite patterns have emerged, but, said Brandt, "we have some hints. We think older people cope less well than younger people; people married but without children have more difficulty than those with kids; people with a history of alcoholism or substance abuse do worse than those without. Again, these are just hints, but they give us an idea of things to look for." One surprising outcome of the study has been the relatively low percentage of eligible individuals who decide to get tested. "I'd say it's about 20 percent," Brandt said. "Even though preliminary surveys found that about 80 percent of at-risk people said they wanted the test, only a small fraction of them have actually come forward. This would indicate to me that the demand for genetic tests involving untreatable diseases may not be as great as some people--and some drug manufacturers--think." And what of the asymptomatic people who test positive and must confront their own mortality? Do they, as many of us have perhaps imagined, chuck it all and go live in a shack on the beach to paint landscapes? "It's a romantic notion that people have, but in my experience, it just doesn't happen," Brandt said. "The guy who has a civil service job he hates still goes into work every day after he tests positive. Sick or not, for many people life must go on. Genetic testing cannot change the future, but at least it can remove the uncertainty."
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