Seeing past Down syndrome hardships
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 recently 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 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 anti-abortion activists and politicians. They think pressure from physicians is a major reason an estimated 80% 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 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 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 over 35.
Although 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, although a majority of Down syndrome pregnancies result in miscarriage, those babies who survive often live into their 50s, 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 Chris Burke, 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,” said Andrew Imparato, president of the American Assn. of People With Disabilities, in testimony to a congressional committee in 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.
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.”
