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The Down syndrome decision
 
Published: Tuesday, February 21, 2012
Publication: Time
By: Bonnie Rochman
Click here for the original article.
 
Pregnant with her third child at 40, Melanie Perkins McLaughlin, a documentary filmmaker from outside Boston, did what many women in her situation do: after much agonizing, she had her swollen belly pricked by a long needle so her doctor could draw a bit of her amniotic fluid and tell her whether her unborn baby had Down syndrome.

She had a good statistical reason to take the test: 1 in 100 pregnancies in her age group results in Down syndrome. A questionable ultrasound finding had upped her risk to 1 in 5, but that also meant a 4 in 5 chance things were just fine. She went ahead and had the test--and not long after came the call as she shopped at the grocery store telling her the results were positive. McLaughlin abandoned her cart in the dairy aisle and went straight home. She pulled the shades down and climbed into bed. As she sobbed, she could feel the baby whose future was now uncertain moving inside her.

McLaughlin's baby--if she decided to keep it--would come into the world as part of a small but considerable minority. One of every 691 babies born in the U.S. has Down syndrome, and 400,000 people in the country are living with the condition today. Those numbers would be higher if not for prenatal tests. Of parents who learn of a prenatal Down-syndrome diagnosis, small studies have found that 9 of 10 end the pregnancy. In the context of all pregnant women--most of whom don't have a prenatal clue--about 50% of Down-syndrome pregnancies are terminated.

But that figure is likely to climb, thanks to new breakthroughs in prenatal technology. One of the limitations of testing for Down syndrome is that it must be done relatively late in a pregnancy. Amniocentesis isn't typically performed until at least 15 weeks along. Chorionic villus sampling, in which a speck of placenta is removed for analysis, can occur a few weeks earlier. Both carry a scary, if small, risk of miscarriage.

But new blood tests for Down syndrome and other chromosomal disorders are in the pipeline, and some have already been rolled out, including one from Sequenom, a San Diego biotech company, that can be administered as early as 10 weeks--long before a woman is visibly pregnant. A recent study in the journal Genetics in Medicine found that the test, which analyzes fetal DNA that enters the mother's bloodstream via the umbilical cord, identifies 98.6% of Down-syndrome pregnancies. Study author and Brown University professor Jacob Canick hailed the results as a "major step for prenatal diagnosis." Whether or not you agree hinges largely on how you'd feel about raising a child with Down syndrome.

 

That job is less frustrating than it's ever been. While half of all babies born with Down syndrome have congenital heart defects, new surgical techniques have made repair relatively routine, extending their average life span from just 25 in 1983 to 60. Thanks to early educational intervention, more and more affected kids are attending mainstream schools. Teens with Down syndrome go to college; 20-somethings get married. "Now is the time to have kids with Down syndrome," says Amy Julia Becker, author of A Good and Perfect Gift, about life with her daughter Penny, 6, who has Down syndrome. "It is ironic that [earlier screening] is happening at a time when it's easier to have Down syndrome than ever before."

But the advances haven't come cheap. If prenatal screening continues to reduce the size of the Down population, will policymakers decide they simply can't afford expensive programs that fewer and fewer people will ever need? "It's a scalable issue," says Ruth Faden, director of the Berman Institute of Bioethics at Johns Hopkins University. "But it's ethically wrong to fail to attend to the needs of these children." As with so many other situations in which morals, medicine and emotion collide, there are no easy--or painless--answers.

Go or No-Go

For Mclaughlin, the decision to continue or terminate her pregnancy had a special urgency. Her 20-week test came just a month before the 24-week threshold after which, under Massachusetts law, abortion was permissible only to save a mother's life. So she and her husband took advantage of a local support program and met with two families, each with a 5-year-old with Down syndrome. "I wanted to know what I was up against," she says.

What they discovered left them with much to mull over. One child, Anna, chattered away and played hide-and-seek with McLaughlin's kids. Anna was delayed developmentally compared with Aiden, their own 5-year-old--she was smaller, and her vocabulary wasn't as extensive as that of a typical child her age--but she was personable and outgoing. The second child, Amanda, was more delayed: she couldn't speak. Yet both sets of parents told McLaughlin that they loved their kids just as they were; even if they could pluck the extra 21st chromosome that causes the syndrome from each and every cell, they wouldn't. "I figured they were saying that only because now that their children were here," she says, "they didn't have a choice."

McLaughlin and her husband decided to go ahead all the same. Meeting Anna had convinced them that they might well have a baby who was just as smart and engaging. "I wanted this baby," she says. "I didn't think I could terminate."

That baby, a girl named Gracie, was born on Dec. 26, 2007, and McLaughlin needed eight hours after her C-section to muster the nerve to visit her in the neonatal intensive-care unit. "I was so afraid of what she was going to look like. Finally, I went down in the middle of the night. She looked huge and healthy, and she was beautiful, just like my other babies."

 

Now 4, Gracie is thriving. She didn't learn to walk until she was 3, and her speech is slow in coming. But McLaughlin and her husband began teaching her sign language when she was 6 months old, both to stimulate her mind and to give her another way to communicate. By age 2, Gracie had accumulated 100 signs, prompting her grandmother to ask, "Are you sure she has Down syndrome?" She does, of course, but to her parents that's fine. "She's not going to do quantum physics, but I don't do quantum physics," says McLaughlin. "Gracie has shown me that I am not in control of everything. I have a bumper sticker that says GRACE HAPPENS."

Other parents of children with Down syndrome tell similar stories. Becker's daughter Penny knows all her letters and is learning to read in a mainstream kindergarten class. She has green eyes behind pink glasses and loves pizza and playing freeze dance. "Can she live a full life without ever solving a quadratic equation? Without reading Dostoyevsky?" Becker asks. "I'm pretty sure she can. Can I live a full life without learning to cherish and welcome those in this world who are different from me? I'm pretty sure I can't."

If you believe the numbers, an overwhelming majority of Down-syndrome families feel this way. Brian Skotko, a doctor in the Down-syndrome program at Children's Hospital Boston who also chairs the clinical advisory board for the National Down Syndrome Society, recently co-published three surveys--one of people with Down syndrome, one of their parents and one of their siblings--in the American Journal of Medical Genetics. Of the more than 2,000 parents who responded, 99% said they loved their child with Down syndrome. Just 4% said they regretted having their child. Among siblings age 12 and older, only 4% said they'd trade their brother or sister with Down syndrome for another; 88% said they felt they were better people because of their sibling. The third study analyzed responses from 284 people with Down syndrome: 99% said they were happy with their lives.

The shortcomings of self-reported studies like these are obvious, and they're the same ones McLaughlin suspected when she met the parents of Anna and Amanda: when the die is cast and your life's arc is set, you're not likely to admit that you're miserable, especially to a scientist with a clipboard. Still, Skotko's findings are so overwhelmingly positive that even if 40% of the respondents were flat-out lying, the majority are still happy.

But the trend lines don't reflect that positive data. Even before the new screening test came along, Down-syndrome births had fallen over the course of 20 years: by 11% from 1989 to 2006. And this was happening in a period when the growing population of older mothers should have pushed the rates up 42%, according to a 2011 article in the journal Prenatal Diagnosis. In absolute terms, that translates to 65,492 Down-syndrome births when 122,519 might have been expected.

If Marcy Graham's inbox is any indication, that trajectory will continue. Graham is a spokeswoman for Sequenom, the company that developed one of the new tests, and she is flooded with inquiries from worried women who may have been reluctant to risk a miscarriage with more-invasive techniques. "I have been getting e-mails for months from people all over the world," she says. "There is so much anxiety around the thought of having a child anyway, and there's something about having this needle put in their stomach that's terrifying."

 

The Moral Muddle

The reality of raising a child with a disability, of course, is much more complex than the happy numbers in Skotko's study or the sobering ones in Prenatal Diagnosis suggest. Although most babies with Down syndrome have what are considered mild to moderate intellectual disabilities, there is no national registry for people with Down syndrome, so there are no reliable statistics for how many affected people fall into the "high functioning" category. It's hard to argue that parenting a nonverbal, severely impaired child is not tougher than caring for a mildly impaired child who sings her ABCs and can wipe her own bottom. But it's impossible to know from prenatal testing how severely a person will be affected, and many women aren't willing to take that chance.

It's true too that even in the best circumstances, mothers who learn after delivery that their babies have Down syndrome describe being overwhelmed with sorrow and disbelief on what they'd presumed would be a joyous day. Theresa Howard, a New Jersey ad copywriter who found out after her daughter Lydia was born in 2006 that she had Down syndrome, admits that she cried every day for nine months. "You go through this mourning process. What is the world going to be like for her? What will she be able to do?" says Howard. "I worried about the what-ifs. Will she have a boyfriend? Will people make fun of her? I stopped crying when she was able to sit up on her own."

Faden, the bioethicist, concedes that there's no case to be made that having a significant disability is a good thing. "If there were a magic pill to cure Down syndrome, would we say you can't take it because society will benefit from having people with Down syndrome around us?" she asks. "That would seem unthinkable."

Complicating things further, the Sequenom test is not the only one that is making a woman's womb more transparent than it's ever been. No longer will parents have to wait for a second-trimester ultrasound to learn the sex of their child; early blood tests can now reveal that and much more. A single new genetic test can screen for nearly 600 mutations. If it's O.K. to eliminate people with Down syndrome, is it also O.K. to end a pregnancy in which the fetus has a terminal diagnosis like Tay-Sachs disease? How about a cleft palate, which can be surgically corrected? And what about deciding the fate of a baby who has a breast-cancer gene? Selective abortion of female fetuses in China and India is chillingly commonplace. And putting aside the existential debate over abortion, what does it mean for a society to weed out children with Down syndrome or any of the other less than perfect among us?

 

"I don't think it's all search and destroy," Canick says in defense of the Sequenom test. "That is an awful way of looking at this." He does have a point. Testing can be helpful for women who choose to continue their pregnancies but find it useful to prepare emotionally and medically. Connecting with a community group of parents raising babies with Down syndrome is easier to do in the months leading up to birth than in the mad scramble of the postnatal period.

But termination after a positive test often seems the default expectation, says Howard, who declined testing because Lydia had been conceived via in vitro fertilization, and she didn't want to risk a miscarriage. "There was encouragement to get the testing with the understanding that I would terminate," Howard recalls. Even McLaughlin admits that she sometimes questions what she'd have done if she'd taken the Sequenom test and learned about Gracie's diagnosis earlier than she did. "Will more people terminate because it's earlier in the pregnancy and why not just try again?" she asks. "I don't know what I would have done if I had found out at 10 weeks."

That's what scares so many parents and professionals. If more terminations lead to a reduction of services for babies with Down syndrome, the gains of the past could be lost, with things returning to the way they were 40 years ago, when children with Down syndrome were rarely mainstreamed into schools and were often institutionalized. That would be bad under any circumstances, but it would be particularly cruel if it happened now, just at the point that the achievements--and the acceptance--of people with Down syndrome have been soaring. Ryan Langston, a blond cutie-pie with Down syndrome, has been featured in advertisements for Target and Nordstrom. Actress Lauren Potter, who also has Down syndrome, plays a cheerleader on the hit TV show Glee. "There is a disconnect between hospitals, administrators and doctors' understanding of what has changed for children with Down syndrome over the years," says Howard.

McLaughlin, for her part, has made significant strides since the day she gave birth to Gracie but couldn't look at her. She now serves as a peer mentor for the Massachusetts Down Syndrome Congress's Parent's First Call program--the same place she turned after Gracie's prenatal diagnosis. In that role, McLaughlin is trained to remain "very neutral," says Maureen Gallagher, executive director of the congress. "We respect people's right to choose."

So McLaughlin tells the people who come to see her the truth--the good and the bad, the joyous and the challenging.

Any parent raising any child will have the same range of experiences, albeit in different ways. It's that very possibility of ordinariness, though, that may best capture the new world of the Down-syndrome child.

Brought to you by The Early Childhood Initiative Foundation and United Way Center for Excellence in Early Education


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