01.10.10

A Future Without Down Syndrome?

With improved testing just a few years away, the number of secular, educated families affected by Down syndrome could plummet. Dana Goldstein talks to parents who hope that doesn’t happen.

“There was a time when I thought about Down syndrome nearly all the time,” blogger Maya Kukes wrote five years ago. “There wasn’t a day that I didn’t wake up, roll over and think, ‘My baby has Down syndrome.’ And yes, I was sad about it. I’ll go ahead and say that I was full-on depressed about it.”

Today, Kukes is more likely to brag about her son’s triumphs than fret about his limitations. Leo’s speech therapist reports that he’s developing “a sophisticated sense of humor.” He can sight-read half a dozen words. He’s protective of his 2-year old sister, Ellie, and loves to run. But when I call the 36-year-old editor at work to discuss the latest research on the genetic disorder that affects her son, she asks me to hold on for a second while she shuts her office door. A few minutes later, Kukes is choking back tears after I ask her if she ever gets the sense that other parents in her cohort—upper middle class, urban, highly educated—are wondering how, with all the genetic technology now available during pregnancy, she ended up with a child with Down syndrome?

“When he was born, I did think it was the end of the world. But now I think he’s the best thing that ever happened to me. And I know it sounds cliché.”

“I would have wondered that, before, if I met someone like me,” she says. “I was never close to anyone who had any sort of handicap.” Kukes did get genetic screening, a blood test and ultrasound that showed her fetus was at a slightly heightened risk of Down syndrome. But doctors told her the more conclusive amniocentesis test carried a risk of miscarriage higher than the risk that her baby would be born disabled, so she opted out.

As emerging technology is expected within several years to allow pregnant women, for the first time, to test safely and conclusively for the disorder as early as the first trimester, a sense of responsibility—of having to provide a model of special-needs parenting—is growing among some college-educated parents dealing with Down syndrome.

Considering that several studies suggest as many as 90 percent of couples who receive a definitive prenatal diagnosis of Down syndrome choose to terminate their pregnancy, it’s possible—even probable—that this particular moment represents a demographic crossroads for Down syndrome, and that the number of secular, college-educated families affected by the condition is about to drop off steeply. Many parents raising children with the condition fervently hope that does not happen.

“I worry there won’t be a lot of kids with Down syndrome, and Leo will not have a large peer group,” Kukes says.

The new genetic technology—a blood test that will isolate fetal from maternal DNA, checking for the telltale 47th chromosome that marks the condition—could reverse an upward trend in the incidence of Down syndrome across the population. About 400,000 Americans now live with Down syndrome. According to a study published last month in the journal Pediatrics, between 1979 and 2003, the number of babies born with the condition increased from nine to about 12 per 10,000 births. The biggest reason for the shift was women waiting longer to have children; increased maternal age is the biggest known risk factor for the disorder.

In part because older parents tend to be well-educated and affluent, a vocal community of Down syndrome advocates arose. The result was increased visibility of people with Down syndrome in popular culture—think of movies like The Other Sister and TV shows like Life Goes On—as well as more funding for Down syndrome research and educational mainstreaming of disabled children. Medical advances also helped people with Down syndrome live longer, more productive lives, in large part through treating the heart problems that plague so many babies born with the condition.

Now advocates worry that more aggressive genetic testing could halt that progress, in part by relegating Down syndrome to groups already more likely to have children with the disorder, either because they are opposed to abortion or because they cannot afford the full range of prenatal care: Hispanics, the very religious, and the poor. Harold Pollack, a public-health expert at the University of Chicago, stresses that this hasn’t happened—at least not yet—in the United States. But a 2006 study in France found that Down syndrome was becoming more prevalent among certain disadvantaged socioeconomic groups that were less likely, for cultural reasons, to access prenatal testing.

“There’s a strong correlation between disability and poverty to begin with,” says Andrew Imparato, president of the American Association of People with Disabilities. “The concern we have is that once the children are born, will they have the supports they need for education and health and a positive life outcome? In low-income communities, the supports are not the same.”

Rachel Adams, a professor of English and American studies at Columbia University, is one of the special-needs parents whose ranks may dwindle in coming decades. She was studying the history of disability in popular culture for years before she gave birth to her son Henry, now 2. Still, learning her newborn had Down syndrome was “the biggest shock of my life,” she says. “A tremendous shock.”

Adams describes herself as a pro-choice feminist, a woman who wouldn’t want to deny any other woman the choice of whether to carry a pregnancy to term. But she’s also committed to giving expectant parents a more hopeful view of what it’s like to be a mother of a child with Down syndrome. This spring, she and a friend will be giving talks to genetic counselors about how they can more sensitively deliver the news that a fetus has Down syndrome, without steering couples toward termination.

Adams sees a contradiction in our society’s increasingly friendly bearing toward disabled people and its obsession with developing ever more revealing genetic tests. “Now that I have Henry, I go from such optimism to such extreme worry,” she says. “There are ethicists who ask, ‘At what cost to humanity is the elimination of whole categories of people?’ You’re living with these contradictions—wanting women to have complete reproductive freedom but wishing the choices they had were conveyed to them in a different way.”

Kukes says she doesn’t want other parents to pity her.

“I feel like a lot of times when I’m out with Leo, it’s my responsibility not to put a happy face on Down syndrome, but to show people that he’s not the end of the world,” she says. “When he was born, I did think it was the end of the world. But now I think he’s the best thing that ever happened to me. And I know it sounds cliché.”

Dana Goldstein is an associate editor and writer at The Daily Beast. Her work on politics, women’s issues, and education has appeared in The American Prospect, Slate, BusinessWeek, The New Republic, and The Nation.