Johns Hopkins Gazette: May 6, 1996

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

     "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

     "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

     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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