Mothers Were Asked How They Found Out Their Babies Had Down Syndrome
Teaching His Sister to Read


By AMY DOCKSER MARCUS
Staff Reporter of THE WALL STREET JOURNAL
October 3, 2005; Page A1

CAMBRIDGE, Mass. -- Earlier this year, Brian Skotko, a student at Harvard
Medical School, published papers in two academic journals, based on a
survey of more than 1,000 mothers. The survey asked an unusual question:
How were they told that their child had Down syndrome?
One woman said that after her baby was born in 2000, "the doctor flat out
told my husband that this could have been prevented at an earlier stage."
Of 141 women who learned through prenatal testing, many said they felt
urged to terminate the pregnancies. One said that after learning her
amniocentesis results, the doctor told her "our child would never be able
to read, write or count change."
Mr. Skotko, whose sister has Down syndrome, saw his project swept up in a
complicated debate over the termination of fetuses diagnosed with
disabilities. It raised a provocative question: Can what a doctor says
influence how a woman chooses?
This issue is being increasingly debated as the proliferation of prenatal
tests is creating new ethical dilemmas. Doctors often must explain the
potential impact of a particular condition on a fetus at a time when
medical advances are changing what it means to live with many disabilities.
Researchers estimate there are more than 1,000 genetic tests available or
in development that could be used for fetuses -- including ones for
conditions that aren't life threatening, could be lessened by surgery, or
don't appear until adulthood. Down syndrome is at the forefront of
controversies surrounding the termination of fetuses with disabilities
because in recent years medical, social and educational changes have
dramatically improved the prospects for people with the condition.
At least one in 1,000 children born in the U.S. are estimated to have
Down syndrome, a genetic condition that causes a range of physical and
intellectual disabilities. The condition has most often been discovered
at birth, but more parents are finding out through prenatal tests. New,
less-invasive tests are increasing the likelihood that younger women will
be able to find out if they are having a child with Down syndrome. Until
now, the focus of testing has been on women 35 and over.
There are no national statistics on how many women continue pregnancies
after receiving a diagnosis of Down syndrome. Researchers at the
University of Connecticut Health Center examined birth-certificate data
and, in a paper published last year in the American Journal of Obstetrics
and Gynecology, estimated the number of Down syndrome live births in the
U.S. declined 7.8% from 1989 to 2001. They suggested that the drop was
due to the use of prenatal diagnosis and the termination of pregnancies.
A 1991 study of 14 hospitals in the Southeast found a more than 90%
termination rate for fetuses diagnosed with certain chromosomal
abnormalities including Down syndrome. A study last year reported that
more than 80% of pregnancies involving a fetus with Down syndrome at
Boston's Brigham and Women's Hospital were terminated in the 1980s and 1990s.
Lewis Holmes, an author of that study, says despite the high rate, he
doesn't believe "the system is tilted toward termination of pregnancy."
Dr. Holmes, director of genetic services at the Prenatal Diagnosis Center
at Massachusetts General Hospital, says most doctors make "an enormous
effort to make sure couples hear both sides." Deciding whether to
continue such a pregnancy is a "personal, private agony," he says.
As testing for genetic conditions becomes more widespread, more expectant
parents will face these situations. "Individuals who confront these
dilemmas should have the full range of choices available to them," says
Wendy Chavkin, a professor of obstetrics and gynecology at Columbia
University, who is head of Physicians for Reproductive Choice and Health,
a pro-abortion rights group.
   
   
A practicing Roman Catholic, Mr. Skotko says he personally opposes the
termination of any pregnancy, except when the mother's life is in danger.
But he doesn't advocate overturning Roe v. Wade, the Supreme Court
decision which guaranteed the legal right to abortion. "We have decided
as a society that termination is permitted until 24 weeks of pregnancy,"
he says. "I respect the law."
His survey was funded by Children's Hospital Boston and a
student-research fund at Harvard Medical School. Mr. Skotko says he
receives no funding or support from antiabortion groups. He is in a joint
program at Harvard, attending its medical school and its John F. Kennedy
School of Government.
Mr. Skotko grew up with a sibling who has Down syndrome. He helped teach
his sister to read and ride a bike. Today, kids with Down syndrome attend
public school, often sitting in regular classrooms part of the day and
joining the same sports teams as classmates.
Life expectancy for people with Down syndrome has greatly increased in
recent years, partly due to better care at home and earlier intervention
for health problems. In 1983, people with Down syndrome lived, on
average, to the age of 25. Today, they live an average of 56 years,
according to the National Down Syndrome Society, a nonprofit group based
in Manhattan. The group estimates there are more than 350,000 people in
the U.S. who have Down syndrome, a number it has used for about a decade.
Many Challenges
Despite strides, people with Down syndrome still face many challenges,
especially as they age. There is a shortage of independent-living
facilities and job opportunities. Adults are at increased risk for a
variety of medical problems, such as diabetes.
This spring, after Mr. Skotko's articles were published -- in the
American Journal of Obstetrics and Gynecology and in Pediatrics, another
academic journal -- he started fielding calls from doctors,
disability-rights groups and others. Some of his findings were posted on
antiabortion Web sites.
In March, he got a call from the office of Sen. Sam Brownback, a Kansas
Republican, asking him to speak at a news conference after the
introduction of the Prenatally Diagnosed Condition Awareness Act. That
bill would provide $25 million in federal funding to ensure women whose
fetuses are diagnosed with Down syndrome and other conditions receive
up-to-date information.
The bill grew out of hearings that Sen. Brownback, who opposes abortion,
held last year on the implications of prenatal testing on Down syndrome.
Sen. Edward Kennedy, a Massachusetts Democrat who is pro-abortion rights,
introduced the bill in the Senate with him. Sen. Kennedy had a sister who
had an intellectual disability and another Kennedy sister founded the
Special Olympics.
Mr. Skotko kept working on his speech on the flight to Washington,
struggling, he says, to focus on his research, not his personal opinions.
He worried that politicians with strong views on either side of the
abortion debate "might warp the opinions of the mothers in my survey." He
hadn't asked the mothers if they were for or against abortion rights.
At the news conference, Mr. Skotko sat in the front row as politicians
spoke first. After discussing his survey, he introduced Beth Allard, the
mother of a child with Down syndrome who had flown with him from Boston.
Mrs. Allard told the audience about the day she received the results of
her prenatal test. "It was as if we were handed a death sentence," she
said. Instead of offering referrals or support, she said doctors told her
and her husband the child would be "constantly hanging off of you,
drooling, unable to speak, read or write." They were warned that if they
had other children, "he will just become more of a burden," Mrs. Allard
said. She felt "like I'd done something wrong."
The couple decided to continue the pregnancy. They say their son,
Benjamin, now 6, is doing well. Mrs. Allard has since had another child,
who doesn't have Down syndrome.
Mr. Skotko's mentor, Allen Crocker -- a 79-year-old doctor who has worked
with people who have Down syndrome for decades -- says he is troubled by
how often such pregnancies are terminated. Yet when Mr. Skotko went to
Washington to speak, Dr. Crocker was concerned.
The idea of legislation to help doctors give patients information "seems
like neutral ground," Dr. Crocker says, "but it is not." The director of
the Down syndrome clinic at Children's Hospital Boston worries that
political pressure could encourage efforts to identify physicians who
discuss termination and those who don't. He says it is crucial that
conversations between doctors and expectant parents remain private. "The
stakes are huge," he says.
In April, Mr. Skotko got a call from the producer of a Michigan-based
Christian radio program, "The Bob Dutko Show." The producer had seen an
article about the survey on an antiabortion Web site and invited Mr.
Skotko on the program. The next day, during a 20-minute break between
classes, he called in.
Mr. Skotko says he tried to keep his answers focused on what the mothers
said. When asked whether doctors have a "predisposition to abortion"
after a diagnosis of Down syndrome, Mr. Skotko replied that "is not being
answered by my study." When the host said "it's a huge insult" to people
with disabilities when women choose to terminate a pregnancy after
learning the fetus has Down syndrome, Mr. Skotko didn't respond. Instead,
he concluded by saying: "I hope everyone takes an opportunity to meet
someone with Down syndrome."
His sister Kristin, 25, lives with her parents in a suburb of Cleveland.
In her room hang medals she has won in swimming, bowling, basketball and
other Special Olympics competitions. On a recent day, she had just
returned from one of her three part-time jobs, cleaning at a recreation
center. "I get bored at home," she said. She talked about how her life is
different from that of her two siblings. "I can't drive," she said. "I
can't move out." But she added, "I'm not different than other people."
Mr. Skotko got the idea for his survey after he co-authored a book about
the achievements of people with Down syndrome. It included a page on his
sister, and the time she won a dance contest. While researching the book,
he received hundreds of letters from mothers citing their children's
accomplishments. Many also recounted the painful way they learned of the
diagnosis.
The survey became a family project. Mr. Skotko first sent the 11-page
questionnaire to his mother for feedback. His parents, grandmother,
Kristin, and their sister, Allison, 22, stuffed 3,000 envelopes at the
kitchen table. Surveys went out to members of five Down syndrome
parent-support groups across the country.
Of 1,126 responses, close to 1,000 were from women like Mr. Skotko's
mother -- who didn't have prenatal testing and learned at delivery that
their child had Down syndrome. Many said they weren't given adequate or
current information on the condition. Others said they felt anxious and
guilty about their child's birth.
Among the smaller group who found out through prenatal testing, many said
they underwent the tests convinced they would continue the pregnancy no
matter what, or were undecided about what action they would take.
A 'Constructive' Message
In his article on prenatal diagnosis, Mr. Skotko noted limitations of his
survey, including the sample size and the fact that women were recalling
emotional events that happened years ago. But he wrote that the mothers
offered a "constructive" message, suggesting ways to improve the process.
They asked that doctors not begin by saying things like, "Unfortunately,
I have some bad news." They said parents should hear about the range of
possibilities for children with Down syndrome, including success stories.
They appreciated doctors who gave them contacts for local support groups.
One morning, Mr. Skotko and Dr. Crocker went to the Museum of Fine Arts
in Boston. In the basement, a picture of Mary and the Christ child had
been taken out of storage and propped against a wall. An art historian
wrote a 1982 paper suggesting the child in the painting appeared to have
similar features to that of a child with Down syndrome.
When the museum purchased the picture in the 1930s, it was thought to be
by 15th-century Italian painter Andrea Mantegna. Now historians believe
it was painted by a lesser artist, imitating him.
The two men worked from a checklist used by doctors when they make a
diagnosis of Down syndrome. The child appeared to have some of the
features, such as a protruding tongue, a gap between his first and second
toes, and short, broad hands. But other traits were impossible to
determine. "This person doesn't shout Down syndrome at you, but there are
features that are very suggestive," said Dr. Crocker.
Frederick Ilchman, assistant curator of paintings at the museum, listened
as they debated. He thinks the features that make the baby look like
someone with Down syndrome were unintentional.
Mr. Skotko was reluctant to give up on the possibility that the artist
was "someone like me, living in the 15th century, who had a brother or a
sister with Down syndrome," he said, and chose to use the child as a model.
He looked at the painting one more time. "I lean towards being a
believer," he said.
Write to Amy Dockser Marcus at amy.marcus@wsj.com1