editors note in american journal of medical genetics about down syndrome

Prévia do material em texto

INVITED COMMENT
Reaching Across the Disability Divide: The Case for
Collaboration With the Disability Community to
Construct a Robust Informed Consent Process Around
Prenatal Screening and Diagnosis
Patricia E. Bauer*
Received 12 April 2011; Accepted 22 April 2011
As a journalist and the mother of a young adult with Down
syndrome, I’ve devoted a lot of thought to trying to understand
what the world looks like when viewed through my daughter’s
beautiful blue eyes.
In the years immediately after Margaret’s birth, I was able to find
some medical descriptions of her condition in textbooks and
journals. Most people with Down syndrome have mild to moderate
intellectual impairment, I read, often accompanied by other phys-
ical abnormalities. They are more likely to have heart problems,
childhood leukemia, Alzheimer’s disease.
Even though these descriptions were medically accurate, I soon
realized they didn’t really tell me what I needed to know about the
adorable sprite who was bouncing around my kitchen with her little
brother. There was clearly a lot more to my daughter than those
descriptions could convey, and a lot more going on in her head than
I’d been told to expect.
During the year when Margaret was four, she pulled a five-pound
bag of sugar off the shelf, spread the contents on the floor and
pretended she was at the beach. She spotted a sign in a public place
and told me its meaning. ‘‘Mommy—EXIT! Go out now!’’ And she
very effectively told me off when I declined to give her the extra
cookie she wanted. ‘‘Mommy, you’re just a toad,’’ she said, stamp-
ing a tiny foot.
Who is this little person with a mind of her own, I wondered. It
was suddenly obvious to my husband and me that we had only
begun to scratch the surface of what it means to live with a diagnosis
of Down syndrome in America today.
And so I resolved to learn more. I went to parent meetings, talked
with educators, advocates and activists, cracked open history and
legal texts, read congressional testimony. What I found was a
thriving and robust community of people who were, like my
daughter, perky and charming and trying hard every day to be
the best they could be, surrounded by family members and sup-
porters equally enthusiastic about assisting them.
Editor’s Note
Because of the relevance of the Commentary by Madeo et al. in
this issue of the Journal, we invited Patricia E. Bauer to provide
her insights on the theme of the relationship of the genetic
counseling profession and the disability community. In addition
to Ms Bauer’s Comment, two other related articles are in this
issue and accompany these two commentaries: a piece by Robert
Resta and Correspondence from Dent et al. of the National
Society of Genetic Counselors responding to the Madeo et al.
paper. The combination of these four articles offers the reader a
full range of opinions on this topic.
John C. Carey
Editor-in-Chief
American Journal of Medical Genetics
Patricia E. Bauer is a journalist who has served as senior editor of the Los
Angeles Times Sunday Magazine; special assistant to the publisher of the
Washington Post; reporter and bureau chief at the Washington Post, and
pundit on public affairs television in Los Angeles. During the Carter years,
she worked in the White House press office as editor of the White House
News Summary.
Bauer is a former member of the medical Institutional Review Board (IRB)
at UCLA, where she participated in the ethical review of federally funded
medical research on human subjects. She has addressed national and
regional conferences on the rights of participants in research and people
with disabilities.
*Correspondence to:
Patricia E. Bauer, 502—20th Street, Santa Monica, CA 90402.
E-mail: patriciaebauer@mac.com
Published online 29 June 2011 in Wiley Online Library
(wileyonlinelibrary.com).
DOI 10.1002/ajmg.a.34116
How to Cite this Article:
Bauer PE. 2011. Reaching across the disability
divide: The case for collaboration with the
disability community to construct a robust
informed consent process around prenatal
screening and diagnosis.
Am J Med Genet Part A 155:1788–1790.
� 2011 Wiley-Liss, Inc. 1788
I found people with Down syndrome who excelled in sports,
music, and the arts, and families working in every way possible to
help them earn their places as contributing, valued members of
society. I found people with Down syndrome who had difficulty
reading or doing math, others who were aces at using computers
and cellphones, and a select few who had continuing roles on
network television shows. To my delight, I also found fast friends,
good times, and far more laughter than tears.
Over the past 27 years, as Margaret has grown to adulthood, I
have mopped my eyes at school plays and applauded at high school
and college graduation ceremonies for young people with uncon-
ventional karyotypes. I have helped carry boxes as they moved into
their own apartments. Soon, I will dance at the wedding of a young
couple with Down syndrome.
And along the way, I’ve also learned a lot I’d rather not have to
know. I have learned that Margaret is a member of a historically
stigmatized group with a shared history of trauma. Throughout our
history, until just a few decades ago, people with disabilities like
Margaret’s were branded as ‘‘unfit,’’ ‘‘feeble-minded,’’ ‘‘defective,’’
and, of course, ‘‘retarded’’—a term that was removed from federal
law by an act of Congress last year. Under the direction of the experts
of the day, people like my daughter were routinely imprisoned in
institutions, forcibly sterilized, and denied access to basic education
and medical care.
Such abuses aren’t widely discussed nowadays. Americans don’t
study them in history class, but they inform our shared emotional
landscape. Whether we know it or not, all of us are affected in some
way by the half-remembered stories, horror movies set in asylums,
and jokes that turn on variations of the word ‘‘retard.’’ As a society,
our collective view of the disability experience has been shaped by
our common history of fear, distaste, revulsion, and pity.
For the disability community, much has changed for the better
over Margaret’s and my lifetimes. Landmark legislation, including
the Americans with Disabilities Act and the Individuals with
Disabilities Education Act, has been part of a civil rights revolution
and spurred the emergence of a newly empowered generation.
Young people with disabilities today have never known a time
when they lacked strong legal protections. Even though they still
sometimes struggle with social attitudes and lack of access to
services, they don’t view their lives as tragic or pitiable, and feel
that society’s negative myths, fears, and stigmas needlessly com-
plicate their lives. They are eager to take their rightful places in
society, proud that they have something to contribute.
But first they must get past the old stereotypes and open people’s
eyes to the possibilities—a task that is made immeasurably harder
by the confidential conversations about prenatal testing and diag-
nosis that are going on in the offices of genetic counselors and
physicians across the land.
More and more these days, we parents of people with genetic
anomalies are being called to account by the well-tested public for
our reproductive choices and our lives. Imagine yourself in our
shoes as the question hangs in the air at neighborhood gatherings, at
the park, at the supermarket. ‘‘Didn’t you have the test?’’ someone
asks, eyeing our child’s face with a raised eyebrow that seems to
betray surprise, curiosity, disapproval.
Wouldn’t it have been better, we hear the questioners asking, if
this person didn’t exist?If you had been a responsible parent, they
seem to say, wouldn’t you have exercised your legal right to abort
this child before birth, and thereby avoided the suffering and social
cost that must surely have accompanied it?
Moments like these remind me that there are huge gaps between
what the public thinks it knows about Down syndrome, and what
life is really like for these people and their families. For us and for
many other families, living in the company of a person with an extra
chromosome is a complex blessing, not a curse. It’s odd that this
would come as surprising news to some, but we are a happy family.
Some people might argue that the universal offer of screening
and testing, and widespread availability of abortion, make such
attitudes inevitable. I think the reality is far more complicated. The
tests are just tests: mechanistic collections of data that can’t reliably
predict what a person’s life will be like. The problem is the manner in
which professionals discuss the tests with prospective parents.
Depending on where you stand, the words ‘‘Down syndrome’’
can mean many things to many people. The term could be a
description of somebody you’ve spent time with, maybe a friend
or family member, somebody who laughs at your jokes and bright-
ens your day. It could be a description of a community of people,
citizens who have legal rights, personal challenges, abilities, and a
capacity for joy and friendship. Or it could be a clinical description
of a bunch of cells accompanied by a lengthy list of potential health
problems and frightening uncertainties.
Each of these meanings has a basis in fact. But it seems that only
one is being communicated during the conversations that surround
prenatal screening and diagnosis.
In the absence of culturally sensitive context, these conversations
are having the effect of legitimizing and amplifying negative atti-
tudes toward people with genetic differences.
What we’re hearing is that professionals are providing informa-
tion to prospective parents that sounds a lot like what I found in
medical texts a generation ago: scientific data presented in a
reductive and sterile fashion, lacking any mention of quality of
life, family or social relationships, or personal satisfaction.
I’m not suggesting that the data as presented is inaccurate, but it
does seem to me woefully incomplete. How can couples make
informed decisions that truly reflect their values when they haven’t
been given information about the lives of those they’ve historically
been taught to fear?
I worry that professionals within the prenatal testing world, often
without even being aware of it, are shading their messages in such a
way as to transform the right to terminate into something that feels
more like an obligation to terminate. Again, I don’t think physicians
and genetic counselors are sending this message deliberately. But
regardless of intent, the effect is the same.
These subliminal messages support a climate in which disability
discrimination can flourish unchallenged. People with what are
seen as ‘‘preventable’’ disabilities are coming to be regarded by
many not as good neighbors and potential friends or coworkers, but
inconveniences to be avoided. Errors. Potential burdens. Objects of
pity.
It’s obviously not acceptable for a counselor or a physician to
urge a course of action on a prospective parent, whether it be
continuation of a pregnancy, termination, or giving a child up for
adoption. But over the years, the nondirectiveness cherished by
genetic counselors seems to have become reason not to share
BAUER 1789
information that might portray people with Down syndrome in
something other than a negative light.
I’ve heard genetic counselors say they hesitate to tell patients that
many people with Down syndrome are beloved by their families
because such information wouldn’t be supportive of their patient. It
might make the patient feel bad if they decide to terminate.
From my vantage point, such logic is pernicious. Are we really
saying that discriminatory old biases and stereotypes should be left
unexamined so patients can be spared discomfort during their
counseling sessions? What is the purpose of the counseling process,
if not to provide patients with up-to-date, accurate, and balanced
information? Can we truly call it ‘‘informed consent’’ if we are
deciding up front that certain kinds of information—information
that acknowledges respect for a historically vulnerable and stigma-
tized population—shouldn’t be shared?
Over the past 40 years, as educational and political advances have
been improving outcomes for Americans with disabilities, the
prenatal testing industry has exploded into a billion-dollar business
that annually offers millions of people insight into their odds of
carrying a fetus with a genetic difference. Yet, ironically, the voices
of people with disabilities are only beginning to be heard within this
industry, and have not yet been heard in a comprehensive way.
As a result, it seems, an entire generation of young parents is
being subjected to an impoverished consent process in connection
with prenatal screening and testing, one that lacks acknowledge-
ment of the value and dignity and possibilities of people living with
the conditions that are being diagnosed and discussed behind
closed doors.
The public health consequences of this omission extend far
beyond the counseling room to affect the collective future of
everyone in our society who may have a disability now or could
become disabled in the future—which to me sounds like just about
everybody. What is said in those rooms matters, not just to the
patients who may be present, but to all of us. It’s important that we
work together to get it right.
What’s to be done? First, it’s imperative that genetic counselors,
physicians, and all professionals who work with prospective parents
reach out and partner with the disability community to strengthen
the informed consent process connected with prenatal screening
and diagnosis.
Current, complete, and unbiased informational packets about
a range of genetic disabilities should be assembled and distributed
in consultation with advocates, parent support groups, and
other representatives of the disability community. Training
should be developed, also in consultation with the disability
community, in how to counsel patients in ways that promote
respect both for the patients and for the people who live with
unexpected diagnoses.
And most of all, I would urge that genetic counselors,
physicians, and others in the field consider developing genuine
friendships—not caretaker relationships—with people on my side
of the disability divide. With luck, you’ll get a glimpse of some of
the fascinating people I have come to love: People whose lives
are complex and messy, to be sure, but rich and satisfying, too.
Now an adult, Margaret continues to do a lot of things that no
genetic counselor would have predicted. With a lot of effort and
support, she graduated from high school and completed a 2-year
college program.
She’s living in her community with a roommate, and managing a
busy schedule that includes working in a preschool, exercising at a
gym, volunteering in a homeless shelter, participating in drama
classes, and keeping up with a broad and active group of friends (in
person as well as via the Internet). She and her boyfriend are regulars
on the local ballroom dance circuit, where they enjoy demonstrat-
ing the fine points of the Big Band Swing. Ask her how her day has
gone and she’ll generally say, ‘‘Awesome.’’
Not long ago, I overheard Margaret when she thought no one was
listening. ‘‘I love my life!’’ she shoutedto the wind. What are the
odds of a person with Down syndrome saying that, you ask?
Probably greater than you think.
1790 AMERICAN JOURNAL OF MEDICAL GENETICS PART A