By Jonathan Finer
Washington Post Staff Writer
Friday, April 29, 2005
BOSTON -- When the technician examining an ultrasound image of her belly abruptly got up and walked out of the room during a prenatal appointment six years ago, Beth Allard told her husband she knew something was wrong.
Minutes later, an obstetrician at the Boston hospital confirmed the first-time mother's fears, explaining that the pictures showed signs of Down syndrome.
Then, Allard recalled, the doctor began to describe what to expect.
"It could just be hanging off of you, drooling," the physician said, contorting her face into a saggy, expressionless imitation of what a child might look like with the constellation of physical and mental symptoms that characterize the syndrome, which occurs in about one in 1,000 newborns.
"We felt hopeless and incredibly scared," Allard, 42, said in an interview. "We didn't know what this was or what to do. They told us we had a few weeks to decide whether to keep the baby."
Such negative depictions of Down syndrome by health professionals who do prenatal screening are common, according to a survey of nearly 3,000 parents of children with the condition, published last month in the American Journal of Obstetrics and Gynecology. A majority reported that the obstetricians who gave them the diagnosis had focused on the hardships ahead and ignored "the positive potential of people with Down syndrome."
"In many cases the doctors were insensitive or just plain rude," said the author, Harvard medical student Brian G. Skotko, whose 24-year-old sister has Down syndrome.
Parents and advocates of people with Down syndrome hailed Skotko's research and hope it will lead doctors to provide more comprehensive information about what life with the condition can be like.
It has also attracted attention from religious conservatives and antiabortion activists and politicians. They believe that pressure from physicians is a major reason why an estimated 80 percent of women who learn they are carrying a fetus with Down syndrome terminate their pregnancies.
At a time of new interest in finding common ground on abortion, the issue has bridged some of the traditional fault lines that mark the debate. Sens. Sam Brownback (R-Kan.) and Edward M. Kennedy (D-Mass.) invited Skotko to Washington to help introduce a bill that would allocate $25 million to provide more complete information about conditions such as Down syndrome, including data on life expectancy and how to reach parents who are raising children with congenital syndromes or diseases.
Questions of abortion have long troubled many who work in the field. It is "the ghost at the banquet," said Allen Crocker, an associate professor at Harvard Medical School who directs the Down syndrome program at Children's Hospital in Boston.
Named for the English physician John Langdon Haydon Down, who first described it in 1866, the syndrome is a genetic condition caused by a single extra chromosome. It can lead to a range of developmental and physical disabilities, including mental retardation and gastrointestinal and heart problems. The frequency of this and other congenital disorders rises sharply in babies born to women older than 35.
While Down syndrome once relegated children to life in institutions, "mainstreaming" has led to new generations raised among the general population. That trend, along with better medical care, has seen the average life expectancy, which was nine years in 1929, rise dramatically, according to the National Institute of Child Health and Human Development. Today, while a majority of Down syndrome pregnancies result in miscarriage, those babies who survive often live into their fifties, according to the National Down Syndrome Society.
Advocacy groups credit the TV program "Life Goes On," which first aired in 1989 and whose main character, Corky, was played by an actor with Down syndrome, with helping to put a positive face on a condition found in nearly 400,000 Americans.
Meanwhile, the growth of prenatal screening has focused attention on how diagnoses are conveyed.
"One of the dangers of the expansion of prenatal genetic testing technologies is that expecting parents will experience pressures to terminate their pregnancies from medical professionals and insurers," Andrew J. Imparato, president of the American Association of People With Disabilities, warned in testimony to a congressional committee last November. "Doctors may want to avoid a complicated delivery, and insurers may want to avoid expenses associated with the child's disability."
Crocker, who helped guide Skotko's project, agrees there is a need for greater sensitivity.
"This is a crucial moment in the life of a young family and should be handled with the utmost tenderness and support," he said, but he worried that efforts to address the issue will get caught up in politics.
Noting that an early version of the Brownback-Kennedy bill included penalties of up to $100,000 for doctors who did not provide sufficient support and information to parents, Crocker said, "I got the sense that this was an attempt to address our societal dilemma. It made my hair stand up."
As a matter of policy, the National Down Syndrome Society and the National Down Syndrome Congress -- the nation's two largest Down advocacy groups -- take no position on the abortion question, and neither has endorsed the bill. In a joint statement, they drew attention to four "concerns about specific elements" of the measure, including requirements for statistical reporting that raised privacy concerns.
Several controversial provisions were stripped from the bill by senators who, on many other issues, find themselves on opposite ends of the political spectrum.
Katy French, an aide to Brownback, who opposes abortion rights, described the legislation as "a pro-life bill" and touted the collaboration with Kennedy as a "a great area of common ground that we haven't seen in the past." Laura Capps, communications director for Kennedy -- whose sister Eunice Kennedy Shriver founded the Special Olympics for disabled people, and whose late sister Rosemary had mental disabilities -- called the newfound common ground a "positive sign."
"Senator Kennedy is strongly pro-choice, but has also long been an advocate for the disabled and believes abortion should be rare," Capps said. "If this legislation helps women make better decisions, he's all for that."
Abortion opponents say the bill would reduce the number of pregnancies ended because of prenatal diagnoses. They argue that prenatal tests are prone to errors and point to waiting lists of people willing to adopt disabled children.
"Outside of the womb we take extra care of the handicapped, with special parking spaces and institutes. Inside the womb we kill them because of it. It's a very schizophrenic approach to things," said J.C. Willke, an obstetrician whose "Handbook on Abortion," first published in 1971, is sometimes referred to as the bible of the antiabortion movement.
"A compassionate approach by a physician certainly could make a difference in limiting the number of these babies that are killed," he said.
Some public health officials agree. California is one of two states to offer both prenatal screening and comprehensive informational counseling to all pregnant women, regardless of age. In recent years, 55 percent of Down syndrome diagnoses there have resulted in abortions, said George Cunningham, who heads the genetic disease branch of the California Department of Health Services. "I think that if it is properly funded, fewer aborted pregnancies might very well be the ultimate effect," he said of the Kennedy-Brownback bill.
Before deciding whether to proceed with the pregnancy, the Allards, of Franklin, Mass., a suburb south of Boston, consulted friends, family members and religious advisers. They chose to have the child.
Life with Ben, now an affable 5-year-old, has brought both joy and unique challenges, Beth Allard said. He greets visitors to his home with a warm hug, and his preschool teacher calls him the "mayor" because he has so many friends. But he is also prone to frequent illness, including near-chronic sinus infections. It took Allard time to get used to people staring occasionally because he looks different. Once a woman saw her with Ben and said, "I am so sorry." "It's tough sometimes, but you roll with it," Allard said as Ben ate breakfast with his brother, Max, 2, one recent weekday. "He is the biggest blessing, not only for my husband and I, but for our whole family."
The Allards attended the Kennedy-Brownback news conference in Washington last month and said they were surprised to see a large number of antiabortion activists.
Beth Allard said she is slightly uncomfortable with some of the conclusions drawn by abortion opponents from stories such as hers.
"I want this to be about these kids and what they can accomplish," she said. "I don't really have an opinion on what decision someone else should make."