Paul
and Karen Sweeney, dressed in their finest, kissed in the parking lot and
marched resolutely to psychologist Kimberly Quaid's
office at the Johns Hopkins Hospital. A lot of lives were on the line.
The
psychologist greeted the young Virginia couple, and Karen began pacing the
room. Paul sat stiffly, breathing deeply, staring straight ahead.
"Are
you sure you want to know?"
Quaid
asked the pro forma question one last time, doing everything by the book. Maybe
they wouldn't want to know, despite months of testing and counseling,
particularly about suicide and whether Karen could cope with bad news.
She
reacted sharply to Quaid's question. She'd spent most
of her life wondering and worrying. She never had enjoyed a childhood; never
known her mother, except as a twitching, flailing, helpless and mute victim
strapped into a hospital bed before she mercifully died 10 years later. Karen's
mother had gotten sick at 33, while pregnant with her. Now Karen, 28, was
running out of time. Her emotions welled up, choking her.
"Yes!
Please!" she screamed. "Tell us. Please."
The
news is good, Quaid quietly told them: You beat it.
The
test showed that there was a 95 percent probability that Karen didn't carry the
gene for Huntington's disease, a rare and always fatal hereditary brain
disorder.
She
and Paul had a future after all. And, in that instant, so did their children:
Melissa, Jesse, Brenndan and Shawn. Not to mention
their children someday.
All
suddenly, wonderfully, free.
The
deadly gene that had murdered her grandfather and her mother and had already
begun the slow killing of her 40-year-old brother had spared Karen and her new
family line.
Two
years ago, predictive testing for the Huntington's gene began at Hopkins and at
Massachusetts General Hospital in Boston, institutions with long histories of
caring for Huntington's patients.
New
centers are operating at Columbia Presbyterian Medical Center in New York and
at the Universities of Michigan and Minnesota.
The
new test has produced agonizing dilemmas for the pioneering testers, quandaries
that will become increasingly common in coming years as discoveries are made of
specific genetic defects that predispose people to future physical and mental
illnesses.
The
idea of a test that can tell a healthy person today that in 20 years he may die
of a stroke, cancer or heart attack, or have his happiness suffocated by a
major depressive illness, is altogether new to
society.
Do
people really want that information? Dare society keep it from them? Huntington's
disease carries with it a suicide rate 4 to 7 times the national average. Yet
the historic DNA test for the lethal gene means the future is already here. It
has abruptly shoved medical science to the edge of an ethical abyss.
"We
know we're all going to die, yes," says Kimberly Quaid.
"But most of us don't know how or when.
"Many
people who come to us don't want to know for themselves; they want to be able
to tell their children whether they need to worry. Others, though, say they
have an overwhelming need to end the agony of not knowing.
"Right
now, those of us in this field are becoming the gypsy fortunetellers of
technology. What I see in my job is merely the tip of the iceberg, but it's
very distressing. Frankly, I don't think we're ready for this."
Karen
Sweeney says she vividly remembers the scene last November, when she received
the test results on which she had bet her life. Karen recalls the unbelievable
high, the hugging, the tears in Kim Quaid's eyes.
But
Quaid doubts that Karen really remembers. At the
moment of truth, people always freeze, regardless of the news. So far, the
Hopkins team has told 8 people they will get Huntington's disease, 28 people
that they won't, and 7 people that the test has failed and the results are
inconclusive.
No
matter the news, the brain seizes up in self-defense, denying, refusing to
compute. People may act normally; they may sob in grief, sob in relief or sob
in the frustration of no answer. But they're not really processing what's
happening to them.
That's
why researchers insist on the buddy system. There must be an
"advocate" present at the disclosure sessions, when healthy young
people find out whether they're going to die from a legacy so horrifying that
many doctors consider it the worst thing that can happen to a human being.
"Escapees"
is another term the researchers use. Karen Sweeney is an escapee. All those who
come to Hopkins for presymptomatic testing for
Huntington's want to be told that they're escapees.
But
not everyone is. And many others, who could learn, don't want to find out. Some
people want to know but don't want other people to know, including their
spouses and children.
"Every
family poses new problems," says Jason Brandt, the cheerful young
psychologist who heads the Hopkins testing program.
"We
thought we were real smart cookies. We thought we had anticipated every
possible snafu when we started this. Then the first five patients in the door
had us hollering for help."
Quaid
says she longed for an ethics hot line, somebody she could call who could tell
her what to do.
What
would you do with identical twins, one of whom wanted the test and the other
didn't? The Hopkins team was bewildered. Identical twins share the same genes.
If one carries the fatal flaw, the other is doomed as well.
"We
decided they should work it out," says Brandt, "and if push came to
shove, we wouldn't test them. But before they could make a decision, one of
them started to show symptoms of the disease. That settled that."
What
would you do with a doctor (not at Hopkins) who wanted a leukemia victim tested
for the Huntington's gene before he considered giving her a lifesaving
bone-marrow Huntington's transplant? The phone call made Quaid
shudder. She icily deflected the doctor.
What
would you do with the pitiful people-10 so far-who came to Hopkins to be tested
and already were showing signs of Huntington's?
"They
were coming in, ostensibly, to be told that in 10 or 20 years, they will get
the disease," Quaid says. "They were not
prepared to be told: 'I'm sorry, you already have it.' "
These
are just a few of the issues that the Hopkins team confronts every day. About
25,000 Americans suffer from Huntington's disease, but another 150,000 people
live in its shadow, knowing they have a 50-50 chance of getting it.
Huntington's, best known as the disease that killed folksinger Woody Guthrie,
has been called history's first example of genetically caused insanity. It lies
dormant until you reach middle age. Then it strikes, slowly drives you mad and
kills you.
The
disease is genetic, without doubt. By the time a parent develops it, he or she
may already have had children. On average, half of them will die of
Huntington's, as well. A sick parent is condemned, but the children don't know
if they are too. They oversee the lingering deaths of their parents. They
realize what may be in store.
So
for them, the wait is excruciating, the ambiguity torturous, the
anguish almost unimaginable. "There's not one waking hour that you don't
think about it," says Karen Sweeney. "It influences everything you
do."
Should
such people get married and have kids? Most of them do and take a chance,
knowing that if the gene blazes into action, they've ensured that those they
love the most may face the same fate. If they forgo marriage and parenthood and
the gene never shows up, they've sacrificed in vain.
The
first signs of Huntington's disease are diabolically subtle. A
twitch. Fidgeting. Clumsiness.
A sudden fall. Absent-mindedness.
Irritability. Depression.
Normal
people rarely worry about such things, but when someone at risk for
Huntington's drops a dish, forgets a name or trips on the sidewalk, the effect
is chilling.
Is
it starting?
Eventually,
if someone has the gene, his body starts to work as if by remote control. It
starts to move. He can't stop it or control it. The brain has begun to die. The
victim develops the distinctive frenzy of aimless twitching, lurching and
jerking. As uncontrolled writhing (choreic movements)
gradually increases, the patient must be confined to a bed or wheelchair.
Facial expressions may become distorted and grotesque: The eyes roll, the
tongue darts in and out, the eyebrows glide up and down. At worst, the entire
body becomes a horror of grotesque, involuntary movements. Speech is slurred at
first, then indistinct, then finally stops altogether as the victim stiffens
like a board and loses the ability to swallow.
Mental
functions similarly deteriorate, and eventually the ability to reason
disappears. Huntington's can take 20 terrible years to reach full cry. No
treatment can slow the inexorable course, let alone halt it. Every afflicted
person and his family must engage in herculean battles against the inevitable,
struggling day after day to maintain hope and keep fighting.
Usually,
victims must be institutionalized. Infection generally ends the story.
Families, grieving, say they are amazed to see their loved ones finally
stilled. The devilish dancing finally has ceased. Ironically, victims look as
they once did, before the long suffering began.
For
25 years, genetic engineers hoped to find a marker for this obscene disease,
some signpost in the complement of 46 human chromosomes that would predict
whether someone carried the gene. Then future victims could make plans for
their care. They could do something active, not merely wait in horror. Escapees
would be freed. Affected fetuses could be detected in the womb, and parents
could decide whether to bring them into the world. The heartbreaking killer
might even be wiped out in a generation. It was a possibility; something
society could debate.
In
1983, Harvard researcher James Gusella found such a
marker and electrified science. Nancy Wexler, a Columbia University
psychologist who may herself carry the gene, had worked with huge families of
rural Venezuelans- 9,000 of them, as of last spring-who have the highest rate
of Huntington's in the world. By examining the blood of victims and looking for
genetic patterns that escapees didn't have, Gusella
was able to isolate the marker.
He
didn't find the gene. But he pinpointed other genes close to it on its
chromosome. And suddenly all of science knew where to look for the Huntington's
gene: It's out somewhere on the far tip of Chromosome 4. The race to nail it
down continues in laboratories every day. "I'm sure they'll find it
soon," says Brandt. "Then they can tear it apart and figure out
what's wrong. Then they can fix it."
Since
the breakthrough, 16 more Huntington's markers have been found, fine-tuning the
predictive test to virtually 100 percent-in the right families.
Hopkins
needs blood from both affected and unaffected relatives to do the test.
Sometimes there's not enough material available. Sometimes those who want to be
tested are afraid to approach relatives about this ugly family secret.
Sometimes the markers, the snapshots themselves, are confusing.
But
in many families, scientists now can identify future victims early, before they
have children. No longer do people have to suffer 30 or 40 years before the real
nightmare begins.
The
testing procedure, however, is long and involved, requiring months of
counseling and psychological testing to evaluate inner strengths, family and
religious supports, marital relationships, employment situations. (Hopkins
advises those who come for testing to buy disability coverage before they do.)
About
a third of those who apply to the program drop out after a few counseling
sessions.
"The
process gives us a unique chance to do research," says Quaid,
"to assess the impact of this clinical test before some Dr. Bagodonuts starts using it without any knowledge of what
may happen.
"We
don't advocate that anyone take this test. If someone decides they need the
information, we will help them in any way we can.
"But
the social, financial and psychological burdens of this disease are staggering.
Family breakups and divorce are common. One frightened woman who called me was
an adoptee. She had tracked down her biological parents. She found her natural
father. He was in a nursing home with the terminal stages of Huntington's
disease."
Despite
polls showing that most Huntington's families wanted to take the test,
relatively few have actually applied at the research centers. Living with a
50-50 chance, after all, holds a certain measure of hope. "Regardless of
the results," Quaid says, "this test can
completely change someone's self-concept. A lot of people don't get the family
support that they expect. "One husband told me he probably wouldn't be
able to handle it if his wife tested positive. He might leave her and would
have to live with the knowledge that he was a coward. When I asked another man
what he would do if his test were positive, he said: 'Well, I wouldn't cheat on
my wife.' "
Nancy
Wexler, at Columbia Presbyterian, declines to say if she has taken the test.
She offers it reluctantly.
"It's
not a good test if you can't offer people treatment," she says. She has
been struck by those who come in for testing and already are showing signs of
the disease.
"It
really indicates how ambivalent people are," she says.
"These
people say they want to have this information. But they don't really want it,
or they would deliver it to themselves. They don't need a fancy DNA test. If
they just looked at their fingers and toes, they'd say: 'Well, that's it, all
right.' "
Denial,
she notes, is a crucial coping strategy for human beings. How else can those
living under a threat like Huntington's be expected to get through the day? All
of us have health fears that we deny all the time.
"But
we're cracking people's healthiest defense by making them attend to the fact
that they will actually get this disease," Wexler says. "We're
opening deep wounds.
"We
spend all our time trying to get them to cope, to come to grips with the fact
that it could be really bad news, so they're prepared for the worst. Then, if
the news really is terrible, we instantly have to do a
complete turnaround!
"We
quickly must tell them: 'Well, you know, the disease isn't really all that bad.
It takes a long time to progress, and research is going on like crazy. Surely
there'll be a cure. Now don't get depressed, and please don't go out and kill
yourself.' "
No
one who has taken the test has tried so far, the centers report.
"Jumping
out the window is just the most dramatic aspect of it," Wexler says.
"People can jump out the window inside. Those might be harder to
identify."
Brandt,
a fellow psychologist, views the patients differently. "I don't think
those who test positive for the gene are dying inside. They are amazingly courageous
and resilient people. "These patients who come for testing are unique, I
think. They're highly motivated: They want to know. They're also highly
educated: Three years of college is the norm. "Once they learn they carry
the gene, they get on with their lives. They don't come in for regular therapy.
They've found out what they needed to know. They don't dwell on it."
Nor
do the escapees show predictable patterns. "Among those who have tested
clear so far," Brandt says, "one got engaged, another had a baby, a third left her husband. So we're seeing different
things."
The
Hopkins program ferociously protects its clients' identities. Yet Quaid worries that such information one day might be used
to discriminate against those who carry the gene. Employers might demand
screening. Insurers might deny coverage. Then only the wealthy could take the
test and learn their futures.
Nancy
Wexler believes that perhaps now is not the time to volunteer for such a
landmark test.
"That
may be the best outcome after all," she says. Quaid,
though, feels that many people really want to know. "I think the potential
of this test to do enormous good is there. Half the
people will turn out negative. For them it's just an enormous, enormous
benefit."
Karen
Sweeney obviously concurs. "I can't tell anyone to take the test,"
she says. "But I think we faced death-looked it square in the eye-and are
better people for it. "I believe many others can
find that inner strength, if they try. I know I couldn't have continued to live
my life the way it was before.
"My
family has a future, because of these scientists. Their work may help my
brother as well. I feel tremendous guilt that I was spared and he wasn't."
And
despite the emotional roller-coaster Kimberly Quaid
has ridden the last two years, she will keep administering the test.
"I
can only hope," she says, "that in the future-and I mean the
immediate future-we as a society will show compassion to those who through no
fault of their own are doomed to suffer."
|
Author(s): |
Peter Gorner, Chicago Tribune |
|
Dateline: |
BALTIMORE |
|
Section: |
TEMPO |
|
Publication title: |
Chicago Tribune
(pre-1997 Fulltext). Chicago, Ill.: Aug
4, 1988. pg. 1 |
|
Source type: |
Newspaper |
|
ISSN: |
10856706 |
|
ProQuest document ID: |
24815435 |
|
Text Word Count |
2917 |
|
Document URL: |
http://proquest.umi.com/pqdweb?did=24815435&sid=6&Fmt=3&clie
ntId=8493&RQT=309&VName=PQD |
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