Christy's song: The uncertainties of non-invasive prenatal testing

Life on the planet, human and otherwise, seems often under siege. Poaching of African rhinos and elephants for their ivory, for example, is happening at a rate that portends extinction of their species, advocates warn. 

On the human front, with the advent of non-invasive prenatal testing, some conditions are under similar threat. For example, statistics show that a staggering 90 percent of fetuses diagnosed with Down syndrome through genetic testing are aborted. 

And for what? Once characterized by life spent in an institution followed by an early death, a Down Syndrome diagnosis today is viewed in a different light, with many who are diagnosed leading full lives – going to school, holding jobs, and living independently. 

Down Syndrome is among many conditions screened for through non-invasive prenatal testing, which has become a routine practice for many expecting mothers in recent years. While such testing may help parents identify potential medical concerns in a pregnancy, some parents are selecting to abort their fetuses altogether.

Moreover, the questionable accuracy of the tests for chromosomal abnormalities – along with a widespread misunderstanding of their results by doctors as well as patients – is leading to abortion of healthy fetuses wrongly thought to have abnormalities, according to a report by the New England Center for Investigative Reporting published in the Boston Globe Dec. 14.

The screens are marketed to doctors as up to 99 percent accurate, according to the the report, while studies show them to report false findings of abnormalities  as much as 50 precent of the time, according to the Globe. Three labs reportedly told non-pregnant women that their "fetal" results showed that there were no abnormalities. 

"Our two stars"

 Like other extended families, mine has plenty of variety, genetic and otherwise. Two of our members – both thirty-somethings --would strike you as truly different.

These would be our Academy Award-winning movie star niece on the one hand, and her cousin, who has been diagnosed with a genetic disorder called Smith Magenis Syndrome (SMS) on the other.  The condition can be uncovered through non-invasive prenatal testing.

Her diagnosis has been a challenge on all fronts – physical, emotional, and especially behavioral, and it would be hard to overstate what this niece and her family have gone through over the years as a result. 

Some of the other cousins dub these "our two stars." Each carries the family banner superbly and we wouldn’t be remotely who we are without either.They each bring a different take on similar gifts. It’s impossible to describe, really, the joy of watching our movie star niece at work, seemingly born for the big screen, going toe to toe for laughs with Jimmy Kimmel and Conan O'Brien, working the press. I am usually moved to tears whenever I have the chance to hear her sing. Not kidding.

I’m also transformed when I hear her cousin sing, the living room her stage, the big family her adoring public. She doesn’t make it look easy. You kind of will her to find an approximate melody, to remember some lyrics, and then to hang in there to the end, but you’re never sure she will. When she does, it’s stunning. Her voice raspy, her hands raw and clenched, she’ll gather herself, stumble a bit, and finally recover as she locks in on her dad’s face, trusting him to see her to the finish. If her song is rare perfection, her humor is smart and liberally dispensed – generally a take-down of the haughty and the proud. Late night talk show hosts would run for the hills. 

In a TMZ world, it’s safe to assume that many parents – given the choice prenatally – would rather raise a movie star than a severely disabled child. Who, after all, would volunteer themselves for a life of meeting the unrelenting, often excruciating, needs of a very dependent other?  Who would blame you if you took a pass?

Mary Kate McCauley, the mother of Christy, our niece diagnosed with SMS, is a board member of Parents and Researchers Interested in Smith Magenis Syndrome (PRISMS), and works with many similar families. She explains that while an occasional parent flat out can’t cope, many find themselves more than equal to the task of raising a child labeled disabled. There’s help available, and her fellow parents tend to be “weary but committed,” she said. Like her, many of them hold religious beliefs that make abortion “not even an option” but even given the choice, she says she’d be likely to do things the same way again.  

Which doesn’t make it any easier. People tend to back away from her daughter in public, and trouble-shooting happens on the fly. And while, as she explains, “You don’t see a time when you’ll be free of this,” there’s also the fear of the future. “What will happen to her when we’re not here?” 

With Christy, she explains, “You don’t know what’s coming…but then again, nobody knows what’s coming, really.”    

There are also beautiful surprises, she says. “Closer to the heart, there’s a strength you gain.  There’s a commitment other family members hold. There’s an eye-opening empathy you gain toward people who are not as fortunate.  There’s a tenderness.” 

“God is abundant,” she believes, and her faith supports her sense of there being a rightness of things as they are. “Christy is happy with who she is, and she’s spared a lot of the worries [her siblings] have to go through.” McCauley sees her daughter as having a distinct, positive presence in the world, as she prompts those she meets to stretch their ideas of human worth and often to find a new patience, flexibility, compassion and resourcefulness. “There are graces to be gained by being around Christy,” her mother says.  

Who defines a "bad" result?

The point is: despite its inaccuracies and misinterpretations, non-invasive prenatal screening is quickly becoming the rule, not the exception. Even the mother who would reject abortion in any circumstance has to recoil at the prospect of challenging her doctor over a recommended test when she'll be needing his or her care to give birth. 

But it has to be worth the effort, and not just to protect an otherwise healthy baby from an inaccurate test result considered to be "bad."  

Because who is to say in advance what a "bad" life is?  To know what condition will require too much "sacrifice" from a parent or will result in too little "quality" of life for a child?

Who can predict whether a child’s song will be worth hearing?   

Each person’s contributions to the whole are immeasurable, mysterious, and unpredictable – as people like our Christy – shamers of the would-be wise – remind us every day.