Sydney turned nine a few weeks ago, so now she's bugging her dad to get her ears pierced. Michael Shaw, her father, doesn't see that happening until she's older, but Sydney has a way of overcoming his objections. Little girls have that effect on dads.
Sydney attends the local elementary school in LaSalle, a Winnipeg suburb, she goes to birthday parties, tells jokes, and is a lot like every other kid. But Sydney is different. She has Down syndrome.
Had Michael known that Down syndrome was present before she was born, he and Leslie, Sydney's mother, would have terminated the pregnancy.
"I know there would be no Sydney, and that tears me apart now," he said. "She's a wonderful, joyous child."
Michael and Leslie, both university professors, wanted a perfect child who was bright and athletic.
"We got Sydney," he said. "She has enriched my life to a degree I didn't think was possible. She changed my whole focus on life, on what has value and what doesn't have value, and what we consider valuable. We don't all get to be Wayne Gretzky, and there's nothing wrong with that."
When Michael accepted his daughter's special needs, he learned how to be a father.
But he worries that one day children like Sydney will be airbrushed out of our society because of their perceived imperfections. That's why he's on the board of the Canadian Down Syndrome Society (CDSS), an advocacy group concerned about the coming of broader prenatal testing in Canada and the implications for the future of Down syndrome children.
Until last year, only women 35 and older were routinely tested to determine if their fetuses had the extra chromosome that causes Down syndrome. As a result, many couples like Michael and Leslie got the diagnosis only at birth. (In a twist of fate, prenatal screening did show the condition was present in Sydney, but the doctor did not pass on the information. She thought the positive test result was incorrect because Leslie's age did not put her in a high-risk category for Down syndrome.)
In February 2007, the Society of Obstetricians and Gynaecologists of Canada (SOGC) issued new guidelines recommending that every woman, regardless of age, be offered noninvasive prenatal genetic screening.
There are some 35,000 people in Canada with Down syndrome. It is the most common genetic disorder, occurring once in every 800 births.
About 80 to 90 per cent of Canadian women who are given a Down syndrome diagnosis choose to have an abortion. If the Down syndrome population continues to dwindle, there will be fewer people like Sydney -- and less funding for the services and support they require.
The CDSS says some doctors stress only the grim statistics and daunting challenges of raising a Down syndrome child in their discussions with couples facing a Down syndrome diagnosis.
"We would like to see information given to women in a fair and balanced and value-neutral way," said Krista Flint, executive director of the Down syndrome society. "We don't think that's the case currently -- we know that's not the case. Families involved with (the society) tell us regularly that that hasn't been their experience. The central message they receive is 'Don't have this baby, it could ruin your life.'
"There's certainly a social construct around the existence of disability that says people with disabilities are less valuable than those without disabilities." Ms. Flint feels that even the language inherent in the process of prenatal testing is to some degree biased.
"Screening means in and of itself to keep out that which is not wanted. I have yet to hear a family who have a child with Down syndrome describe their child as something they didn't want."
She stressed that the society is not involved with pro-life/pro-choice debates. But she suggested that the way women are provided with information about prenatal genetic testing tends to lead to termination.
"The obligation of the medical community, as well as organizations like ours, is to ensure that women have the opportunity to hear not just about the challenges of a life with Down syndrome but also about the richly rewarding lives that are possible for citizens with disabilities. And I don't think that happens."
Dr. Phil Wyatt, a member of the committee that drafted the guidelines for obstetricians and gynecologists, said the goal was to avoid a paternalistic attitude in providing "the best possible information upon which patients can make the best decisions for themselves.
"Many of these issues are complicated and complex and rather than taking the old-style approach -- 'We'll tell you what's good for you' -- we wanted to summarize the information on a scientific basis and make it available."
The SOGC's intent is to make sure people are "given unbiased information in the proper context about what conditions can be detected through prenatal screening, the impact both positive and negative they may have on women's lives, and to provide some assistance in helping them reach decisions that are best for them."
But what women are actually being told by their doctors is open to debate.
"I don't think any of us would disagree that there can be a wide variation in what various individual physicians say to various patients," said Dr. Wyatt.
Many women are waiting until their mid-30s or later to have their children, and prenatal testing becomes more significant for older mothers. When the mother is 25, the risk of a significant chromosome abnormality -- the most common being Down syndrome -- is one in 476 pregnancies. At age 35, the risk is one in 204.
Prenatal testing can also detect heart defects and cleft palate, which are not chromosomal abnormalities but are present in two to three per cent of pregnancies regardless of the mother's age. Knowing that a baby will be born with a heart problem means a cardiac team can be ready in the delivery room, for example.
The children born to Sydney's classmates may never know someone with Down syndrome. Yet as Michael points out, there has been no public discourse on prenatal testing, no debate in Parliament or in the legislatures across the country.
"We often talk about embracing diversity in Canada, but we mean cultural diversity. People of different abilities should be part of the Canadian fabric. True diversity in the broadest sense, that's missing."
The way Michael figures it, Sydney is not that different from the other kids in her class, or from her six-year-old sister Allison, who has no disabilities.
"The things that separate her from her peers are much less than the things that bring her together with her peers. She does all of the things a nine-year-old girl should be doing, and has the same wishes and desires."
Look, he says, the only difference between Sydney and the other girls in her class is a single chromosome. And a single chromosome is the difference between a boy and a girl.
"But we don't tell parents, 'Oh, we've identified your fetus as a female. She's more likely to be predisposed to breast cancer, she's more likely to be sexually assaulted and she's more likely to have a lower paying job.'
"Yet when the single chromosome is for Down syndrome the medical profession chooses to give a litany of what can go wrong when there's so much that can go right."
Those born with Down syndrome suffer from mild to moderate mental retardation and are at high risk for a variety of health problems, including congenital heart defects. But parents like Michael are undaunted.
"For the first time, we now see Down syndrome folks living into their 60s, holding jobs and outliving their parents. They're contributing to society. I often tell people my greatest goal for Sydney is that she be a taxpayer. And that's in the realm of possibility."
