By Kevin Spurgaitis
It’s a cloudless, sun-drenched evening in June as Alison and Jeff Senior, together with their three-year-old, Kira, arrive for Kira’s junior kindergarten orientation at Cedar Creek Public School in Ayr, Ont. The classroom is festooned with finger paintings, paper cut-outs of flowers and butterflies, and a quilted wall hanging of Winnie-the-Pooh. Scattered about are children’s toys, whose clanking, jingling sounds interweave with exuberant cries.
“ Last year, Iceland announced it was on the verge of having no Down syndrome births. ”
Kira is round-faced and pigtailed, dressed head to toe in pink and blue. With a wide-eyed grin, she unhesitatingly approaches parents and “future Coyotes,” stretching out her arms and uttering words of greeting.
“We’re so terribly excited [about Kira starting kindergarten],” says Alison. “She is all about people.” Alison concedes, though, that her daughter’s transition to elementary school is “scary” for them because of the many unknowns. Says Jeff, “When it comes to people with disabilities, those with Down syndrome — like Kira — are probably the ones that people are most comfortable with. That’s because they tend to be viewed as happy and easygoing. And, sure, there’s a real advantage in that.” However, he adds, while they may be accepted, and even valued, “they’re still not seen as full participants in society.”
In many ways, Kira and other people with Down syndrome have far better prospects today than at any other point in history. The life expectancy of a baby born with the condition has increased fivefold since the early 20th century, thanks to medical advances and better social supports. So it’s something of a paradox that the number of Down syndrome births could soon start falling as a new generation of prenatal tests makes it easier to identify potential genetic anomalies. Far safer than the traditional invasive procedures that carry a slight risk of miscarriage, the new tests will allow more women to make decisions about their pregnancies as early as the first trimester.
The potential popularity of this new testing raises important questions, however. Disability advocates fear that the technology will make it easier to screen out Down syndrome altogether. And they wonder what a future without any more Down syndrome births might look like. Will existing supports for individuals currently living with the condition wane? Will additional genetic tests follow, leading to the termination of fetuses showing signs of other disabilities? And what are the ethical implications of becoming a medically idealized society?
Down syndrome was first described as a condition by English physician John Langdon Down in 1866. It’s characterized by extra copies of chromosome 21 — three instead of two. Approximately one in 750 live births — or 500 babies a year — are affected in Canada, according to the Public Health Agency of Canada.
People with Down syndrome have intellectual disabilities, usually mild but sometimes severe, and many children born with the condition experience thyroid, hearing or vision problems. They’re also at an increased risk for medical conditions such as heart disease, Alzheimer’s and leukemia. Today, a baby born with Down syndrome can be expected to live to nearly 60. Diagnosable prenatally since the late 1960s, Down syndrome has traditionally been detected with invasive procedures such as amniocentesis, which requires a sample of amniotic fluid to be taken from the uterus. The test carries a small risk of miscarriage. But a simple, cell-free test now looks at traces of fetal DNA in a mother’s bloodstream. First introduced in 2011, non-invasive prenatal testing (NIPT) is relatively pain-free and can be performed even earlier in a pregnancy than amniocentesis.
NIPT represents a significant innovation in prenatal testing, according to Vardit Ravitsky, an associate professor of bioethics at the University of Montreal. She’s one of about 30 researchers taking part in the PEGASUS project, which examines new screenings for conditions such as Down syndrome. The multimillion-dollar project has found that NIPT is highly accurate, with an almost 99 percent detection rate for Down syndrome.
Today, a handful of American companies offer the test to Canadians at an average cost of $500. When it was first introduced in the country, NIPT was only available as an out-of-pocket service. More recently, though, Ontario, British Columbia and the Yukon have begun funding NIPT for pregnant patients deemed a high risk for fetal chromosome conditions. They recommend that positive results from NIPT be confirmed through traditional procedures such as amniocentesis before any decisions about pregnancies are made.
Last year, headlines around the world announced that Iceland was on the verge of becoming the first country where no Down syndrome births occur. While screening tests are optional, up to 85 percent of pregnant women take them, and just as many who receive a positive result decide to terminate their pregnancy.
“We have basically eradicated, almost, Down syndrome from our society,” geneticist Kári Stefánsson told CBS News in August 2017. Of course, Iceland has a population of only 350,000. Between 4,000 and 5,000 babies are born there every year — only two or three with Down syndrome. By comparison, about 6,000 American children are born with the condition annually, and an estimated 67 percent of American women choose to have an abortion if their fetus is diagnosed with Down syndrome. Termination rates in much of Europe are similar to Iceland’s, while Canada lacks reliable data.
The possibility of eradicating Down syndrome worries Chris Kaposy, an associate professor of bioethics at Memorial University in St. John’s, N.L., and the author of the new book Choosing Down Syndrome: Ethics and New Prenatal Testing Technologies. Our society tends to view developmental disabilities as a medical problem, he says, but that misses the larger picture.
Kaposy, whose nine-year-old son has Down syndrome, describes the condition as “just an instance of normal human variation. Some people have three copies of the 21st chromosome; some people have two. The people with three are in a minority and they have certain health challenges, but that doesn’t mean that the condition itself ought to be pathologized.”
For Ryerson University professor emerita Catherine Frazee, a leading disability studies scholar and activist, the news from Iceland is troubling. “It is deeply distressing to me to hear such a bold affirmation of eugenic intent,” says Frazee, who was born with spinal muscular atrophy. “Selective termination on the basis of disability is a clear indication of the extent to which ableist ideologies infuse our culture. Ableism is a world view that presumes the centrality of non-disabled experience, and by extension presumes the inferiority of disabled experience. It is one of many forms of tribal supremacy to which human beings are prone.”
In the early days of Alison Senior’s pregnancy, she and her husband initially opted out of any prenatal testing. But Alison’s 11-week ultrasound showed soft markers for Down syndrome, and they agreed to the NIPT that was newly available in Ontario. They figured that a positive diagnosis would help them to better prepare themselves. The results came back “99 percent for Down syndrome,” Alison remembers. A genetic counsellor then recommended the more traditional amniotic fluid test, and it, too, came back positive.
Alison experienced what Jeff describes as a grieving process: “You have this idea that your child is going to be a certain way. And now you have this reality that maybe that’s not going to be the case.” As a special education teacher, Alison also felt guilty for harbouring doubts about the future, knowing fully what a “child with an exceptionality” looks like in the classroom. She was happy to instruct such students, she says. So why was it okay for other people to have a kid with Down syndrome, but not okay for her to do the same?
While the Seniors are pro-choice, ending the pregnancy was never an option for them. “It just never dawned on us,” says Jeff, who is an elementary school principal. Ultimately, they accepted the diagnosis and began to prepare for the birth, with Alison undergoing more ultrasounds and meeting with maternal fetal medicine specialists at Hamilton’s McMaster hospital.
Kira was born in Grand River Hospital in Kitchener, Ont., in September 2014 — a mere four days before her due date. There were no complications. Alison recalls feeling excitement touched with sadness “as the reality of her Down syndrome became more real.”
The silenced majority
Earlier this year, in a pair of op-eds in the Washington Post, writer and mother-of-two Ruth Marcus explained the views of the “silenced majority” of women who have — or would have — chosen to abort a fetus with Down syndrome. “I can say without hesitation that, tragic as it would have felt… I would have terminated [my] pregnancies had the testing come back positive,” she wrote. “That was not the child I wanted. That was not the choice I would have made. You can call me selfish, or worse, but I am in good company. The evidence is clear that most women confronted with the same unhappy alternative would make the same decision.”
A 2007 Dutch study explored the motivations of women who chose to terminate their pregnancies after a prenatal diagnosis of Down syndrome. Researchers found that more than 60 percent of respondents considered the burden of having a child with Down syndrome too heavy for themselves and their families. More than 80 percent believed that the child would never be able to function independently, and they wondered about care arrangements after their own death.
Only 11% indicated that their child put a strain on their marriage, and just four percent experienced regret about having a child with Down syndrome.
Canada has no legal restrictions on abortion, and pro-choice advocates believe this reproductive freedom must be maintained no matter the circumstances. Simply put, abortions for genetic reasons aren’t about “eugenics or discrimination against disabled people,” the Abortion Rights Coalition of Canada argues. In a recent position paper, the organization describes such abortions as a personal choice based on a woman’s “ability and preparedness” to raise a child with a disability. “Pregnant parents are the only ones in a position to evaluate what is in the best interest of themselves and their potential child. The most loving and responsible parents will consider all options and circumstances and make the wisest choice for themselves, and their family. Society cannot compel people to forfeit their own rights (or life) to save the life of another. Such a sacrifice must be entirely voluntary.”
In 2014, notable atheist Richard Dawkins went as far as saying that it would be “immoral” to knowingly carry on with a Down syndrome pregnancy. “Abort it and try again,” he tweeted, in response to another social media user who had commented that it would be “a real ethical dilemma” if she learned that her baby would be born with the condition.
Later, defending his view, the British evolutionary scientist wrote that he would not apologize “for approaching moral philosophic questions in a logical way.”
Quality of life
Anthony Skelton, an associate professor of philosophy at the University of Western Ontario and the former associate director of the school’s Rotman Institute of Philosophy, takes a practical approach to the issue. He supports prenatal testing, not because of any moral obligation but as a “matter of prudence.” When it comes to distributing medical resources, “people have to make decisions about whom to treat, whom not to treat, and how aggressively and so on.” We base these choices “on what we think is the worth of a life, which may be a function of the quality of life that the person has in front of them.” Skelton says the quality-of-life measure doesn’t necessarily exclude people with Down syndrome. “The question really is about where in the spectrum of good and bad lives people with Down syndrome fall.”
It was just over a decade ago when then-minister of foreign affairs Peter MacKay announced that Canada would sign the United Nations Convention on the Rights of People with Disabilities (CRPD). The Canadian disability community was on hand for the March 2007 signing ceremony. It had worked for five years to see the CRPD come to fruition.
For people living with developmental disabilities today, there are earlier intervention therapies, more inclusive education practices and stronger legal protections in the workforce, as well as various programs for assisted independent living. “There is no question we’ve seen impressive strides in the recognition of equality and human rights of people with developmental disabilities,” says Michael Bach, executive vice-president of the Canadian Association for Community Living (CACL), which has been advocating for people with intellectual disabilities in society since 1958. “What’s more challenging, though, is the realization of these rights.” Despite ratifying the
Quality-of-life measure doesn’t necessarily exclude people with Down syndrome–University of Western Ontario
UN convention, “our governments have not actually recognized it in terms of public policy… That puts pressure on families, who are left to carry the burden of support on their own.”
Bach says that people believe the “broad rhetoric of inclusion.” But the numbers don’t always bear this out. Only 40 percent of students with developmental disabilities are fully integrated into regular classrooms, he says. People with developmental and cognitive disabilities are also three to four times more likely to die preventable deaths and four times more likely to be victims of violence, according to Bach.
If Down syndrome birth rates begin falling, this will only aggravate the inequalities, he says. “I have no question that there will be a downward pressure on public investment in services for people with disabilities.” The message for people with Down syndrome is that “their genotype doesn’t fit.”
As genetic science advances, some predict that it won’t be long before for-profit testing companies promise to screen for conditions other than Down syndrome. This prospect should give us pause, warns disability scholar Frazee. “Ethically, once we embark upon a course of action that implicitly endorses a certain threshold for valued human life — meeting certain benchmarks for cognition and physical function — there is no telling of where this aspiration for human perfection will end. To paraphrase [social and political theorist] Isaiah Berlin, to make such an omelette, there is surely no limit to the number of eggs that will be broken.”
She rejects viewpoints like Dawkins’ that consider the lives of those with disabilities less valuable and full of suffering. After all, she points out, “where happiness is the measure, people with Down syndrome, in particular, are arguably greater producers of happiness than people who do not have [the condition].”
Content with their lives
Nearly all people with Down syndrome are content with their lives, according to Harvard medical geneticist Brian Skotko, who co-directs the Down Syndrome Program at Massachusetts General Hospital. Skotko’s team surveyed people with Down syndrome, as well as their parents and siblings, in 2011. The findings are clear: 99 percent of people with Down syndrome reported that they were happy with their lives and loved their families, while 99 percent of their parents said that they loved their child, and 97 percent felt proud of them. Only 11 percent indicated that their child put a strain on their marriage, and just four percent experienced regret about having a child with Down syndrome. Siblings of people with Down syndrome similarly reported near-unanimous love and pride for their brother or sister with the condition.
The positive results would come as no surprise to Janet Charchuk, an Alberton, P.E.I., resident who has Down syndrome. Charchuk won a gold medal in snowshoeing at the 2017 Special Olympics World Winter Games in Austria and has raised awareness about Down syndrome at the United Nations. “My life is pretty good,” says the 35-year-old, who has also lobbied for supportive living apartments in her town. “I’m healthy and active in my community. I have a job where I volunteer working with kids. . . . I have friends and a boyfriend.”
As Charchuk puts it, “I’ve always been me, and people like me for who I am. . . . I’ve always felt accepted myself, but I know of others with different abilities who have told me stories about not being allowed to go to their community schools, or even being in an institution. But that’s getting better now with more education and awareness.”
“ Ultimately, I want her to be that person who will stand her ground and who will always make people accept her for who she is. ”
99% of people with Down syndrome reported they we’re happy with their lives and loved their families.
Prenatal tests are here to stay
Ethical concerns notwithstanding, even disability advocates like Bach concede that new prenatal tests are here to stay. But the CACL is pushing for a disability-positive approach to genetic testing and counselling. “The train’s left the station,” he says. “We’re not going to be able to restrict the development of these technologies. What we need to do is cultivate a set of values in which their application doesn’t reproduce, entrench and exacerbate discrimination on the basis of disability.”
South of the border, Down syndrome has emerged in recent years as a new front in America’s abortion wars. Pro-life lawmakers in North Dakota, Louisiana, Indiana and Ohio have moved to prohibit abortion in cases of Down syndrome, and similar bills are currently being floated in several other states. Critics say the laws unfairly restrict a woman’s right to choose. Indeed, a federal appeals court struck down the Indiana legislation as unconstitutional, and a district judge blocked the Ohio law last March before it could take effect.
Bioethicist Chris Kaposy has weighed in on the abortion debate, denouncing pro-life campaigners for their “propagandistic use” of children with Down syndrome. Instead, he argues that the pro-choice and disability-positive agendas are far from mutually exclusive. “People with Down syndrome tend to lead flourishing lives,” he told the Guardian in May. “Their families typically thrive. Perhaps more parents would choose children with this condition if they knew these facts.” Rather than restricting abortions, he concluded, society should empower families “to make choices in favour of parenting children with disabilities like Down syndrome.”
Ravitsky would also like to see greater “genetic literacy” and better guidance for parents dealing with any prenatal diagnosis. Doctors, she observes, may be overly focused on the health complications of conditions like Down syndrome, in part due to a fear of liability, as well as a lack of time, resources and specialized training. Ideally, she says, “you get all of the information and all of the support, and you make what to me is a truly informed decision” about whether to proceed with the pregnancy — one that takes into account “not just the medical aspects, but the experiential aspects of raising a child with that condition.”
So full of life
Inside the Seniors’ house, a wooden sign reads, “Bless our home with love and laughter.” After cavorting with her soon-to-be classmates earlier in the evening, Kira sits comfortably on the living room sofa, eating grapes and watching Beauty and the Beast on her tablet for the umpteenth time. All at once, she stands up and clambers sideways on the cushions. She loses her balance a moment later, careening forward against the arm of the sofa and erupting into giggles.
Alison admires her daughter’s high spirits. “She is so full of life,” Alison says. “She’s a ‘Here I am’ type of girl. ‘This is what you got.’ And it’s all good.” To help with Kira’s developmental disability, Alison and Jeff regularly take her to see a music therapist, two occupational therapists and two speech therapists, the costs of which are only partly covered by provincial and workplace benefits. Although she understands spoken language, Kira struggles to articulate some h’s and g’s.
“Despite her limitations of speech, she can make herself understood,” Jeff says. “She’ll grab your hand and lead you somewhere. She’ll tell you that you’re ‘not getting it, Dad.’ She’ll try a bunch of times but will find some other way to communicate with you. She perseveres.” “[Kira] has a spark, and I pray that never dies,” says Alison. “Ultimately, I want her to be that person who will stand her ground and who will always make people accept her for who she is.”
Kevin Spurgaitis is a Toronto-based writer This article of his was Reprinted with permission from The United Church Observer from its September 2018 issue.