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We still don't know what 'normal' really is Add to ...

In 1991, when my wife Janet was pregnant with our second child, we were told by her obstetrician that we might want to consider an amniocentesis -- just to make sure.

"Just to make sure of what?" we asked. "We had a sonogram, and we imagine that any serious problems would have shown up there."

An amniocentesis would take genetic material from the fetus itself, the doctor explained, thus affording us a crystal-clear indication of any anomalies that might lead us to terminate the pregnancy.

Janet and I discussed the possibility that day, but we didn't discuss it for long. Janet pointed out that we wouldn't get the results until 16 to 18 weeks into the pregnancy and, though we both supported abortion rights, we did not want to wait until the second trimester before deciding to terminate -- unless the fetus was very severely damaged. And something very severe, such as anencephaly, would have been spotted on the sonogram.

I added (because I'd just learned it from reading the brochure) that amniocentesis induces miscarriage in one of every 200 attempts. Curiously, at age 36, those were the same odds against Janet's having a child with Down syndrome.

"And what if we had a child with Down syndrome?" she asked. "Well, then," I said, uttering one of the more prescient and consequential sentences of my life, "we'd just love the baby all the more."

I guess it was a sweet thing to say, though in retrospect it was incredibly naive. Jamie Bérubé was born that September. He has Down syndrome. We love him dearly, and he delights us daily -- not merely by being cute, but by being clever and sly and witty and charming and a good kid to his brother Nick.

But I didn't know anything about Down syndrome in 1991. I thought that people who had it were kind of flabby and passive and had a life expectancy in the 20s. I knew just enough -- about disability and about my own heart -- to make what I think was the right decision about prenatal screening.

I would make the same decision today, even more emphatically, but I would bring to that decision a deeper skepticism, born of both experience and study, about whether prenatal screening tells us everything we think we need to know.

Since 1991, people with Down syndrome have made -- as the cliché has it -- great strides. So has biomedicine. It is now possible, as I suggested in the book about Jamie I published in 1996, to do a definitive genetic analysis of a developing fetus as early as eight weeks. And it's possible to do so without sticking a great big fat needle into the uterus, as one does in amniocentesis.

Prospective parents who encounter the medical apparatus of prenatal screening today, then, are facing a world utterly unlike the one Janet and I inhabited 16 years ago: On the one hand, they can see happy and healthy children with Down syndrome all around them, being integrated into public life as never before; one the other hand, they can choose to screen for "genetic anomalies" (of which Down syndrome is by far the most prevalent) without fear of miscarriage and without the moral murk of a second-trimester abortion.

Many opponents of abortion rights, of course, do not understand why the moral murk should be any murkier in week 18 than in week eight. For them, life ("defects" or not) begins at conception and childbirth is mandatory. Yet even some opponents of abortion rights, together with most supporters, see moral shades of grey at every point in a pregnancy. They believe that some fetuses are more developed than others, and some fetuses are more disabled than others. Recognition of moral complexity in childbearing, in fact, can make for some strange alliances.

For example, as Rayna Rapp points out in Testing Women, Testing the Fetus, the ultra-orthodox Hasidim in New York are strenuous promoters of prenatal genetic screening because Tay-Sachs disease -- a genetic disability so excruciatingly debilitating that it sometimes seems as if it were invented by bioethicists as an extreme limit case -- occurs disproportionately often in Ashkenazi Jews.

Surely, one would think, the eradication of Tay-Sachs would be an unqualified good for the species as a whole, not to mention the stricken parents who have to watch their child succumb to the disease. Surely it makes sense to screen for such things.

But does it make as much sense to screen for Down syndrome? Or for genetic markers that might indicate deafness, or cystic fibrosis, or Parkinson's Disease, or Huntington's, or Alzheimer's? Why should we try to detect relatively mild disabilities in utero -- or degenerative diseases that may not appear for another 50 years?

The debate about prenatal screening has managed, remarkably, to obscure two critical things: We have no idea what we mean when we talk about "screening," and we have no idea what we mean when we think about "unqualified good for the species as a whole." And yet as the technology of prenatal screening improves with each year, we tell ourselves we're getting somewhere. How can that be?

Perhaps it's that we live in a world where an ounce of prevention is rightly considered to be better than a lifetime of symptomatic treatment -- but where the logic of "prevention" is wrongly mapped onto pregnancy and childbirth, so that it perversely seems (to some people) as if it's always better to prevent some lives than to live them.

Or perhaps it's that we don't stop to consider all the things we can't see when we "screen" pregnancies. Things such as cerebral palsy or some forms of autism or schizophrenia or, my favourite term, "pervasive developmental delay" -- a formal way of saying "we have no idea what's going on in there." Some advocates of across-the-board prenatal screening seem to be especially confused about what the technology can and can't do.

Or perhaps it's that we don't yet know how to distinguish disability from disease, ordinary fleshly frailty from relentless predatory illness.

That distinction was driven home to me last year when I taught the first graduate seminar in disability studies at Penn State University. My class was reading essays on the overlap between disability activism and gay/lesbian activism -- an overlap concentrated on, but not exclusive to, the history of AIDS.

One of my students objected to the conflation of AIDS with disability in general. He understood, he said, why disability activists have resisted the idea that disability is something that can be "cured" or "prevented" with technological advances and medical interventions, just as gay and lesbian activists have resisted the idea that homosexuality is a curable disease.

He understood why people with congenital disabilities would recoil from a prenatal screening initiative whose assumptions seem to be that the world would be a better place if they had never been born.

But, he said, if a cure for AIDS were found tomorrow, would he be happy? If HIV could be wiped from the face of the Earth, would he support its eradication? Yes, yes he would. Without hesitation, without a second's misgiving.

The class took a collective breath. For weeks, we'd been reading the work of disability activists who argue, justifiably enough, that contemporary biomedicine frames everything in terms of the miracle cure -- the scientific breakthrough that will allow the lame to walk and the blind to see. We'd read their scathing accounts of eugenics, the early pseudoscience of making better babies.

But in all that reading, we'd never come across a disability activist who calls for the creation of a Smallpox Restoration Society or a Polio Preservation League. The elimination of smallpox and polio (and tuberculosis and cholera and bubonic plague) seems to most people to be an unqualified good for the species. Even in the work of disability activists who would never give a moment's thought to providing all deaf people with cochlear implants, there is a common sense that there are some human conditions we are better off without.

But -- and this is the critical point -- deafness isn't one of them. Tay-Sachs is. Down syndrome, I submit, is not. So although it makes sense to screen for Tay-Sachs, it may not make sense to screen for far milder conditions. For that matter, there are innumerable contexts in which deafness is not a disability at all. In places where everyone is fluent in sign language, it's is just another name for a linguistic minority.

It's true that most people -- between 80 and 90 per cent -- who screen for Down syndrome will terminate the pregnancy if the results are "positive." I wish this weren't so, but I don't believe I should try to realize that wish by outlawing either abortion or prenatal screening. I believe I should try, instead, to persuade others that the possible eradication of Down syndrome just isn't something our species has achieved, or should achieve, any consensus about.

I didn't think it was worth it to screen for Down syndrome when Janet was pregnant in 1991. And back then I didn't have any idea that our "disabled" child would go on to learn elementary French or the characteristics of 40 different species of sharks. I didn't dream that he'd be such a capable swimmer and basketball player, or such an enthusiastic fan of Harry Potter.

Now that I know what Jamie is like, I've come to the conclusion that our fear of mental retardation is out of all proportion to the phenomenon itself, and that millions of "developmentally delayed" people can live happy and fulfilling lives -- far happier and more fulfilling than most of us "normal" and "gifted" folk have been able to imagine.

Occasionally, I run into parents of children with Down syndrome who are quite certain that no one should ever be able to make prenatal decisions with which they themselves would disagree. In the United States, for instance, conservative pundit George Will has recently written that the legalization of abortion, combined with prenatal screening, has led society on "search-and-destroy missions" meant to rid the world of people like his son Jon. "Without this combination of diagnostic advances and moral regression, there would be more people like Jon, and the world would be a sweeter place."

Perhaps. And perhaps the world would be a sweeter place if we acknowledged that prospective parents who choose not to bring pregnancies to term are actually making difficult moral decisions rather than engaging in "moral regression." That way, we could try to persuade people not to abort fetuses with Down syndrome -- or any other disability -- rather than coercing them into mandatory childbirth regardless of the circumstances.

But the world is not a sweet place, and it has only recently -- fitfully at that -- attempted to provide meaningful accommodation for people with disabilities. Some of them, admittedly, require substantial assistance; others, like Jamie, are easier to accommodate socially than, say, a selfish, intemperate "normal" person. Some require nothing more than closed captioning; others require "job coaches" -- if they manage to find work at all.

Indeed, as a society and as a species, we still don't seem to know what "normal" really is. We could think of the norm as (a) what's left over when we get rid of all the abnormalities, or (b) nothing more than the statistical mean in a fully inclusive society that incorporates every single one of us into public life to the greatest extent possible.

I prefer (b) myself, and I think you should too; but I worry that uncritical advocates of prenatal screening are thinking in terms of (a). Which leaves us with a bitter paradox -- that even though we haven't begun to explore the ways in which we could include people with disabilities in our society, we devote precious time and resources to developing better ways of spotting them before they are born.

Michael Bérubé is a professor at Penn State University and the author of Life As We Know It: A Father, A Family, and an Exceptional Child.

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