If My Baby Has Down Syndrome, Why Didn't I Have a Miscarriage
The Terminal Children of Downwardly Syndrome
Prenatal testing is changing who gets born and who doesn't. This is just the beginning.
Photographs past Julia Sellmann
Every few weeks or then, Grete Fält-Hansen gets a call from a stranger asking a question for the outset time: What is it similar to enhance a child with Downwardly syndrome?
Sometimes the caller is a significant woman, deciding whether to have an abortion. Sometimes a husband and wife are on the line, the two of them in agonizing disagreement. Once, Fält-Hansen remembers, information technology was a couple who had waited for their prenatal screening to come back normal before announcing the pregnancy to friends and family unit. "We wanted to wait," they'd told their loved ones, "considering if it had Down's syndrome, we would accept had an abortion." They chosen Fält-Hansen later on their girl was born—with slanted optics, a flattened olfactory organ, and, most unmistakable, the actress copy of chromosome 21 that defines Down syndrome. They were afraid their friends and family would now remember they didn't love their girl—then heavy are the moral judgments that accompany wanting or not wanting to bring a child with a disability into the world.
All of these people get in touch with Fält-Hansen, a 54-year-old schoolteacher, because she heads Landsforeningen Downs Syndrom, or the National Down Syndrome Clan, in Denmark, and because she herself has an eighteen-yr-old son, Karl Emil, with Downward syndrome. Karl Emil was diagnosed afterwards he was born. She remembers how fragile he felt in her arms and how she worried most his health, merely mostly, she remembers, "I thought he was so cute." Two years later on he was built-in, in 2004, Denmark became one of the first countries in the globe to offer prenatal Down syndrome screening to every pregnant adult female, regardless of age or other risk factors. Well-nigh all expecting mothers choose to have the examination; of those who get a Down syndrome diagnosis, more than 95 percent choose to abort.
Denmark is not on its surface particularly hostile to disability. People with Downward syndrome are entitled to health care, education, even coin for the special shoes that fit their wider, more flexible feet. If you inquire Danes well-nigh the syndrome, they're likely to bring up Morten and Peter, two friends with Down syndrome who starred in popular TV programs where they croaky jokes and dissected soccer games. Yet a gulf seems to carve up the publicly expressed attitudes and private decisions. Since universal screening was introduced, the number of children born with Down's syndrome has fallen sharply. In 2019, just eighteen were built-in in the unabridged country. (About six,000 children with Down syndrome are born in the U.South. each year.)
Fält-Hansen is in the strange position of leading an organization likely to take fewer and fewer new members. The goal of her conversations with expecting parents, she says, is not to sway them against abortion; she fully supports a woman'due south correct to choose. These conversations are meant to fill in the texture of daily life missing both from the well-significant cliché that "people with Down syndrome are e'er happy" and from the litany of possible symptoms provided by doctors upon diagnosis: intellectual disability, low muscle tone, eye defects, gastrointestinal defects, immune disorders, arthritis, obesity, leukemia, dementia. She might explain that, yep, Karl Emil tin read. His notebooks are full of poetry written in his careful, sturdy handwriting. He needed physical and speech therapy when he was immature. He loves music—his gold-rimmed glasses are modeled later his favorite Danish pop star's. He gets cranky sometimes, similar all teens do.
One phone telephone call might stretch into several; some people even come to meet her son. In the stop, some bring together the association with their kid. Others, she never hears from once again.
These parents come to Fält-Hansen because they are faced with a choice—one fabricated possible by technology that peers at the DNA of unborn children. Down syndrome is frequently called the "canary in the coal mine" for selective reproduction. Information technology was one of the starting time genetic conditions to be routinely screened for in utero, and it remains the most morally troubling because it is among the least severe. It is very much compatible with life—even a long, happy life.
The forces of scientific progress are now marching toward e'er more testing to find ever more than genetic conditions. Recent advances in genetics provoke anxieties about a future where parents choose what kind of kid to have, or non have. Just that hypothetical future is already here. It's been here for an entire generation.
Fält-Hansen says the calls she receives are virtually information, helping parents make a truly informed decision. But they are also moments of seeking, of asking primal questions virtually parenthood. Practise yous always wonder, I asked her, about the families who end up choosing an abortion? Practice you feel like yous failed to show that your life—and your child'south life—is worth choosing? She told me she doesn't remember about it this style anymore. But in the beginning, she said, she did worry: "What if they don't like my son?"
•••
In January, I took a train from Copenhagen southward to the small town of Vordingborg, where Grete, Karl Emil, and his thirty-year-old sister, Ann Katrine Kristensen, met me at the station. The three of them formed a phalanx of dark coats waving how-do-you-do. The weather was typical of January—cold, gray, blustery—but Karl Emil pulled me over to the ice-cream shop, where he wanted to tell me he knew the employees. His favorite ice-cream flavor, he said, was licorice. "That'due south very Danish!" I said. Grete and Ann Katrine translated. Then he zagged over to a men'due south clothing shop and struck upward a chat with the clerk, who had just seen Karl Emil interviewed on a Danish children'due south plan with his girlfriend, Chloe. "Yous didn't tell me you had a girlfriend," the clerk teased. Karl Emil laughed, mischievous and proud.
We sat downwards at a café, and Grete gave her phone to Karl Emil to decorated himself with while we spoke in English language. He took selfies; his female parent, sister, and I began to talk about Down syndrome and the state'southward prenatal-screening program. At one point, Grete was reminded of a documentary that had sparked an outcry in Kingdom of denmark. She reclaimed her phone to look up the title: Død Over Downs ("Death to Down syndrome"). When Karl Emil read over her shoulder, his confront crumpled. He curled into the corner and refused to look at united states of america. He had understood, evidently, and the distress was plain on his confront.
Grete looked up at me: "He reacts because he can read."
"He must be enlightened of the argue?" I asked, which felt perverse to even say. So he's enlightened there are people who don't want people like him to exist built-in? Yes, she said; her family has always been open with him. As a kid, he was proud of having Down's syndrome. It was one of the things that made him uniquely Karl Emil. But equally a teenager, he became bellyaching and embarrassed. He could tell he was different. "He actually asked me, at some betoken, if it was considering of Downwardly syndrome that he sometimes didn't sympathize things," Grete said. "I simply told him honestly: Yes." As he's gotten older, she said, he's made his peace with it. This arc felt familiar. It's the arc of growing up, in which our cocky-assuredness as young children gets upended in the storms of adolescence, but somewhen, hopefully, we come to accept who nosotros are.
The decisions parents make subsequently prenatal testing are private and individual ones. Just when the decisions so overwhelmingly swing 1 fashion—to abort—it does seem to reflect something more: an entire society's judgment about the lives of people with Downwardly syndrome. That's what I saw reflected in Karl Emil's face up.
Kingdom of denmark is unusual for the universality of its screening programme and the comprehensiveness of its information, but the pattern of high abortion rates after a Down's syndrome diagnosis holds true across Western Europe and, to a somewhat bottom extent, in the United States. In wealthy countries, information technology seems to be at once the best and the worst time for Down syndrome. Better health intendance has more than doubled life expectancy. Better access to education means most children with Down syndrome will learn to read and write. Few people speak publicly most wanting to "eliminate" Down syndrome. Yet private choices are calculation up to something very close to that.
In the 1980s, every bit prenatal screening for Down syndrome became common, the anthropologist Rayna Rapp described the parents on the frontier of reproductive technology equally "moral pioneers." Suddenly, a new power was thrust into the hands of ordinary people—the power to decide what kind of life is worth bringing into the world.
The medical field has also been grappling with its power to offering this power. "If no one with Down syndrome had ever existed or always would exist—is that a terrible matter? I don't know," says Laura Hercher, a genetic advisor and the director of student research at Sarah Lawrence College. If you accept the health complications linked to Down's syndrome, such as increased likelihood of early-onset Alzheimer's, leukemia, and eye defects, she told me, "I don't think anyone would contend that those are good things."
Only she went on. "If our world didn't take people with special needs and these vulnerabilities," she asked, "would we be missing a part of our humanity?"
•••
Sixty-ane years ago, the first known prenatal test for a genetic disorder in the earth took identify in Copenhagen. The patient was a 27-year-old adult female who was a carrier for hemophilia, a rare and severe bleeding disorder that is passed from mothers to sons. She had already given birth to one infant boy, who lived for merely five hours. The obstetrician who delivered the baby, Fritz Fuchs, told her to come up back if she ever became pregnant again. And in 1959, according to the published case study, she did come dorsum, maxim she couldn't get through with her pregnancy if she was carrying another son.
Fuchs had been thinking nearly what to do. Along with a cytologist named Povl Riis, he'd been experimenting with using fetal cells floating in the yellowish amniotic fluid that fills the womb to make up one's mind a infant's sex activity. A boy would take a 50 percent take a chance of inheriting hemophilia; a girl would have almost no take a chance. But commencement they needed some amniotic fluid. Fuchs eased a long needle into the woman's abdomen; Riis studied the cells under a microscope. It was a girl.
The adult female gave birth to a daughter a few months after. If the baby had been a boy, though, she was prepared to have an abortion—which was legal under Danish police force at the time on "eugenic grounds" for fetuses at adventure for astringent mental or concrete disease, co-ordinate to Riis and Fuchs's newspaper describing the case. They acknowledged the possible danger of sticking a needle in the abdomen of a significant adult female, but wrote that it was justified "because the method seems to be useful in preventive eugenics."
That word, eugenics, today evokes images that are specific and heinous: forced sterilization of the "feebleminded" in early-20th-century America, which in turn inspired the racial hygiene of the Nazis, who gassed or otherwise killed tens of thousands of people with disabilities, many of them children. Simply eugenics was one time a mainstream scientific pursuit, and eugenicists believed that they were bettering humanity. Denmark, too, drew inspiration from the U.S., and it passed a sterilization law in 1929. Over the next 21 years, 5,940 people were sterilized in Kingdom of denmark, the majority considering they were "mentally retarded." Those who resisted sterilization were threatened with institutionalization.
Eugenics in Denmark never became as systematic and fierce every bit it did in Germany, but the policies came out of like underlying goals: improving the wellness of a nation by preventing the birth of those deemed to be burdens on society. The term eugenics somewhen vicious out of favor, simply in the 1970s, when Denmark began offer prenatal testing for Down syndrome to mothers over the age of 35, it was discussed in the context of saving money—as in, the testing cost was less than that of institutionalizing a kid with a disability for life. The stated purpose was "to preclude nascence of children with astringent, lifelong inability."
That language as well has long since changed; in 1994, the stated purpose of the testing became "to offer women a choice." Activists like Fält-Hansen take also pushed back against the subtle and not-so-subtle ways that the medical system encourages women to choose ballgame. Some Danish parents told me that doctors automatically causeless they would want to schedule an abortion, as if there was actually no other option. This is no longer the instance, says Puk Sandager, a fetal-medicine specialist at Aarhus University Hospital. Ten years ago, doctors—especially older doctors—were more likely to expect parents to terminate, she told me. "And now nosotros practise non expect anything." The National Down's syndrome Association has also worked with doctors to modify the linguistic communication they utilise with patients—"probability" instead of "risk," "chromosome aberration" instead of "chromosome fault." And, of course, hospitals at present connect expecting parents with people like Fält-Hansen to have those conversations about what it'south like to raise a child with Down syndrome.
Perhaps all of this has had some issue, though information technology's hard to say. The number of babies born to parents who chose to continue a pregnancy subsequently a prenatal diagnosis of Downwardly syndrome in Denmark has ranged from nil to 13 a twelvemonth since universal screening was introduced. In 2019, there were seven. (Eleven other babies were born to parents who either declined the examination or got a false negative, making the total number of babies built-in with Down syndrome last twelvemonth 18.)
Why so few? "Looking at it from the outside, a country like Denmark, if you desire to heighten a kid with Down's syndrome, this is a good surroundings," says Stina Lou, an anthropologist who has studied how parents brand decisions later a prenatal diagnosis of a fetal anomaly. Since 2011, she has embedded in the fetal-medicine unit of measurement at Aarhus University Hospital, 1 of the largest hospitals in Denmark, where she has shadowed Sandager and other doctors.
Under the 2004 guidelines, all pregnant women in Denmark are offered a combined screening in the first trimester, which includes blood tests and an ultrasound. These data points, along with maternal age, are used to calculate the odds of Down syndrome. The high-probability patients are offered a more invasive diagnostic test using DNA either from the fetal cells floating in the amniotic fluid (amniocentesis) or from placental tissue (chorionic villus sampling). Both require sticking a needle or catheter into the womb and come with a modest take a chance of miscarriage. More recently, hospitals have started offering noninvasive prenatal testing, which uses fragments of fetal Dna floating in the mother's claret. That option has non become popular in Denmark, though, probably because the invasive tests can option up a suite of genetic disorders in addition to Downward syndrome. More diseases ruled out, more peace of mind.
Merely Lou was interested in the times when the tests did non provide peace of mind, when they in fact provided the opposite. In a study of 21 women who chose abortion afterward a prenatal diagnosis of Down syndrome, she found that they had tended to base their decisions on worst-case scenarios. An extra copy of chromosome 21 tin crusade a variety of symptoms, the severity of which is not known until nativity or even later. Most people with Down's syndrome learn to read and write. Others are nonverbal. Some practice not have heart defects. Others spend months or fifty-fifty years in and out of the hospital to set a eye valve. Most accept good for you digestive systems. Others lack the nerve endings needed to anticipate bowel movements, necessitating more than surgeries, possibly even a stoma bag or diapers. The women who chose abortion feared the worst possible outcomes. Some even grieved the possibility of aborting a child who might take had a mild form of Down syndrome. Just in the cease, Lou told me, "the dubiety but becomes too much."
This emphasis on uncertainty came up when I spoke with David Wasserman, a bioethicist at the U.S. National Institutes of Health who, forth with his collaborator Adrienne Asch, has written some of the most pointed critiques of selective abortion. (Asch died in 2013.) They argued that prenatal testing has the upshot of reducing an unborn child to a unmarried attribute—Down's syndrome, for example—and making parents judge the kid'southward life on that solitary. Wasserman told me he didn't think that most parents who brand these decisions are seeking perfection. Rather, he said, "there'south profound adventure disfavor."
Information technology's hard to know for sure whether the people in Lou's report decided to arrest for the reasons they gave or if these were retrospective justifications. But when Lou subsequently interviewed parents who had made the unusual choice to go along a pregnancy after a Down syndrome diagnosis, she constitute them more willing to encompass uncertainty.
Parents of children with Down syndrome accept described to me the initial process of mourning the child they thought they would accept: the kid whom they were going to walk down the aisle, who was going to graduate from college, who was going to become president. None of this is guaranteed with any kid, of course, but while most parents go through a tiresome realignment of expectations over the years, prenatal testing was a rapid collapse into disappointment—all those dreams, however unrealistic, evaporating at once. And and so the doctors present you with a long list of medical weather condition associated with Downwards syndrome. Think nearly information technology this way, Karl Emil'south sister, Ann Katrine, said: "If you handed whatever expecting parent a whole list of everything their child could peradventure encounter during their unabridged life bridge—illnesses and stuff like that—then anyone would be scared."
"Nobody would have a babe," Grete said.
•••
A peculiar effect of Kingdom of denmark's universal-screening program and high abortion rate for Down syndrome is that a off-white number of babies born with Downward syndrome are built-in to parents who essentially got a false negative. Their first-trimester screening results said their odds were very low—then depression that they needed no invasive follow-up testing. They only went on with what they thought was an ordinary pregnancy. In other words, like the couple Grete once counseled, these are parents who might have called to abort, had they known.
The day later I met Grete, I attended a coming together of the local Copenhagen Down's syndrome grouping. The woman who invited me, Louise Aarsø, had a then-five-yr-old daughter with Down syndrome, Elea. Aarsø and her husband had made the unusual option to opt out of screening. Though they support the right to abortion, they knew they would want to have the baby either way. At the meeting, two of the seven other families told me their prenatal screening had suggested extremely low odds. At nativity, they were surprised. A few others said they had chosen to continue the pregnancy despite a high probability for Down's syndrome. Ulla Hartmann, whose son Ditlev was 18, noted that he was born earlier the national screening plan began. "We're very thankful nosotros didn't know, considering we had two twin boys when I got pregnant with Ditlev and I really don't retrieve nosotros would have been, 'Okay, permit'southward take this challenge when nosotros take these monkeys upward in the curtains,' " she told me. "Simply you grow with the claiming."
Daniel Christensen was one of the parents who had been told the odds of Downwards syndrome were very low, something like ane in ane,500. He and his wife didn't take to make a choice, and when he thinks back on it, he said, "what scares me the most is actually how picayune we knew virtually Down syndrome." What would the basis of their option have been? Their son Baronial is 4 now, with a twin sister, who Christensen half-jokingly said was "virtually normal." The other parents laughed. "Nobody's normal," he said.
Then the woman to my right spoke; she asked me not to use her name. She wore a dark-green blouse, and her blond hair was pulled into a ponytail. When nosotros all turned to her, I noticed that she had begun to tear up. "Now I'm moved from all the stories; I'thou a little …" She paused to take hold of her jiff. "My reply is not that beautiful." The Down's syndrome odds for her son, she said, were ane in 969.
"You think the verbal number?" I asked.
"Yeah, I do. I went dorsum to the papers." The probability was low enough that she didn't recollect most it after he was born. "On the i hand I saw the issues. And on the other hand he was perfect." It took four months for him to go diagnosed with Down's syndrome. He is 6 now, and he cannot speak. It frustrates him, she said. He fights with his brother and sister. He bites because he cannot express himself. "This has just been so many times, and you never feel safe." Her experience is not representative of all children with Down syndrome; lack of impulse control is common, but violence is not. Her point, though, was that the image of a happy-become-lucky child then often featured in the media is not always representative either. She wouldn't have called this life: "We would accept asked for an ballgame if we knew."
Some other parent chimed in, and the conversation hopscotched to a related topic and then another until it had moved on entirely. At the end of the meeting, every bit others stood and gathered their coats, I turned to the adult female over again because I was nevertheless shocked that she was willing to say what she'd said. Her admission seemed to violate an unspoken code of motherhood.
Of course, she said, "it'south shameful if I say these things." She loves her child, because how can a mother not? "Simply you dear a person that hits you, bites y'all? If you accept a husband that bites you, y'all can say goodbye … but if y'all have a child that hits you, you can't exercise anything. You can't just say, 'I don't want to be in a human relationship.' Considering it's your child." To accept a child is to brainstorm a human relationship that yous cannot sever. Information technology is supposed to be unconditional, which is maybe what almost troubles united states of america about selective abortion—information technology's an access that the relationship can in fact be provisional.
•••
Parenting is a plunge into the unknown and the uncontrollable. Information technology is beautiful in this mode, only also daunting.
In the cold, scientific realm of biology, reproduction begins with a random genetic shuffling—an act of fate, if you were to be less cold, more than poetic. The 23 pairs of chromosomes in our cells line upward and so that the Dna we inherited from our mother and father can be remixed and divided into sets of 23 single chromosomes. Each egg or sperm gets one such set up. In women, this chromosomal division begins, remarkably, when they themselves are fetuses in their mother'due south womb. The chromosomes freeze in place for 20, 30, even 40-plus years as the fetus becomes a babe, a girl, a woman. The bicycle finishes only when the egg is fertilized. During the intervening years, the proteins holding chromosomes together can degrade, resulting in eggs with likewise many or too few chromosomes. This is the biological mechanism behind most cases of Downward syndrome—95 percent of people born with an actress re-create of chromosome 21 inherited it from their female parent. And this is why the syndrome is often, though non ever, linked to the age of the female parent.
In the interviews I've conducted, and in interviews Lou and researchers beyond the U.S. take conducted, the choice of what to do later a prenatal test fell disproportionately on mothers. There were fathers who agonized over the choice too, merely mothers usually bore most of the burden. In that location is a feminist explanation (my body, my option) and a less feminist one (family unit is still primarily the domain of women), just information technology'southward truthful either mode. And in making these decisions, many of the women seemed to anticipate the judgment they would face up.
Lou told me she had wanted to interview women who chose ballgame later on a Down's syndrome diagnosis because they're a silent bulk. They are rarely interviewed in the media, and rarely willing to be interviewed. Danes are quite open nigh abortion—astonishingly and then to my American ears—but abortions for a fetal anomaly, and particularly Down's syndrome, are unlike. They still carry a stigma. "I call back it'due south because nosotros every bit a social club like to retrieve of ourselves as inclusive," Lou said. "We are a rich society, and we think it's important that unlike types of people should be here." And for some of the women who end upwards choosing abortion, "their own self-understanding is a fiddling shaken, because they have to accept they aren't the kind of person like they thought," she said. They were not the blazon of person who would choose to have a child with a disability.
For the women in Lou's report, catastrophe a pregnancy after a prenatal diagnosis was very different from catastrophe an unwanted pregnancy. These were almost all wanted pregnancies, in some cases very much wanted pregnancies following long struggles with infertility. The determination to abort was not taken lightly. I Danish woman I'll telephone call "L" told me how terrible it was to feel her baby inside her once she'd made the conclusion to terminate. In the infirmary bed, she began sobbing and so hard, the staff had difficulty sedating her. The depth of her emotions surprised her, because she was so sure of her decision. The abortion was two years agone, and she doesn't think virtually it much anymore. Just recounting it on the phone, she began crying again.
She was disappointed to detect and so little in the media about the experiences of women like her. "It felt right for me, and I have no regrets at all," she told me, but it as well feels like "yous're doing something wrong." L is a filmmaker, and she wanted to make a documentary well-nigh choosing ballgame after a Down syndrome diagnosis. She even idea she would share her own story. But she hadn't been able to find a couple willing to exist in this documentary, and she wasn't ready to put herself out there solitary.
When Rayna Rapp, the anthropologist who coined the term moral pioneers, interviewed parents undergoing prenatal testing in New York in the 1980s and '90s, she noticed a sure preoccupation amongst certain women. Her subjects represented a reasonably diverse slice of the urban center, but middle-form white women particularly seemed fixated on the idea of "selfishness." The women she interviewed were among the first in their families to forgo homemaking for paid piece of work; they had non just jobs but careers that were central to their identity. With birth command, they were having fewer children and having them later. They had more reproductive autonomy than women had ever had in man history. (Rapp herself came to this research after having an abortion because of Down syndrome when she became significant every bit a 36-yr-one-time professor.) "Medical engineering transforms their 'choices' on an individual level, allowing them, like their male person partners, to imagine voluntary limits to their commitments to their children," Rapp wrote in her book Testing Women, Testing the Fetus.
But exercising those "voluntary limits" on motherhood—choosing non to take a child with a inability out of fear for how it might impact one'southward career, for example—becomes judged every bit "selfishness." Medical technology can offering women a choice, merely it does non instantly transform the society around them. It does non dismantle the expectation that women are the primary caregivers or erase the ideal of a skillful female parent as one who places no limits on her devotion to her children.
The centrality of choice to feminism also brings it into uncomfortable conflict with the disability-rights movement. Anti-ballgame-rights activists in the U.S. have seized on this to introduce bills banning selective abortion for Downward syndrome in several states. Feminist inability scholars take attempted to resolve the conflict by arguing that the choice is not a real choice at all. "The decision to abort a fetus with a disability fifty-fifty because it 'just seems too difficult' must be respected," Marsha Saxton, the managing director of research at the World Plant on Disability, wrote in 1998. But Saxton calls it a choice fabricated "under duress," arguing that a woman faced with this decision is still constrained today—past popular misconceptions that make life with a disability out to be worse than it really is and by a lodge that is hostile to people with disabilities.
And when fewer people with disabilities are born, it becomes harder for the ones who are born to alive a good life, argues Rosemarie Garland-Thomson, a bioethicist and professor emerita at Emory University. Fewer people with disabilities means fewer services, fewer therapies, fewer resource. Just she also recognizes how this logic pins the entire weight of an inclusive order on individual women.
was introduced in 2004, the number of children in the country built-in with the syndrome has fallen sharply. In 2019, it was but eighteen. (Julia Sellmann)
No wonder, then, that "pick" can feel like a brunt. In one pocket-size report of women in the U.S. who chose ballgame subsequently a diagnosis of a fetal anomaly, two-thirds said they'd hoped—or even prayed—for a miscarriage instead. It'south not that they wanted their husbands, their doctors, or their lawmakers to tell them what to do, but they recognized that choice comes with responsibleness and invites judgment. "I take guilt for not being the kind of person who could parent this particular blazon of special demand," said one adult female in the report. "Guilt, guilt, guilt."
The introduction of a choice reshapes the terrain on which we all stand. To opt out of testing is to become someone who chose to opt out. To test and stop a pregnancy because of Down's syndrome is to become someone who chose not to have a child with a inability. To exam and continue the pregnancy after a Down syndrome diagnosis is to become someone who chose to take a child with a disability. Each pick puts you lot backside one demarcating line or another. There is no neutral basis, except perhaps in hoping that the test comes back negative and you never accept to cull what'south adjacent.
What kind of choice is this, if what you hope is to not have to choose at all?
•••
Downwardly syndrome is unlikely to e'er disappear from the globe completely. Equally women wait longer to have children, the incidence of pregnancies with an extra copy of chromosome 21 is going up. Prenatal testing can also in rare cases exist incorrect, and some parents will choose not to arrest or non to test at all. Others will non have access to abortion.
In the United states of america—which has no national health-intendance system, no regime mandate to offering prenatal screening—the all-time estimate for the termination rate after a diagnosis of Down syndrome is 67 percent. But that number conceals stark differences within the country. Ane study found higher rates of termination in the West and Northeast and amid mothers who are highly educated. "On the Upper Eastward Side of Manhattan, it's going to be completely unlike than in Alabama," said Laura Hercher, the genetic counselor.
These differences worry Hercher. If merely the wealthy tin can afford to routinely screen out certain genetic conditions, and so those conditions can go proxies of form. They can get, in other words, other people's problems. Hercher worries about an empathy gap in a world where the well-off feel insulated from sickness and disability.
For those with the money, the possibilities of genetic option are expanding. The leading border is preimplantation genetic testing (PGT) of embryos created through in vitro fertilization, which altogether can cost tens of thousands of dollars. Labs at present offer testing for a menu of genetic conditions—most of them rare and severe conditions such every bit Tay-Sachs disease, cystic fibrosis, and phenylketonuria—allowing parents to select healthy embryos for implantation in the womb. Scientists accept besides started trying to sympathise more than common weather condition that are influenced by hundreds or even thousands of genes: diabetes, heart affliction, loftier cholesterol, cancer, and—much more controversially—mental affliction and autism. In late 2018, Genomic Prediction, a company in New Jersey, began offer to screen embryos for risk of hundreds of conditions, including schizophrenia and intellectual inability, though it has since quietly backtracked on the latter. The i exam customers proceed request for, the company's chief scientific officer told me, is for autism. The science isn't there however, but the demand is.
The politics of prenatal testing for Down syndrome and abortion are currently yoked together by necessity: The only intervention offered for a prenatal test that finds Down syndrome is an abortion. Just modern reproduction is opening up more ways for parents to cull what kind of child to have. PGT is one example. Sperm banks, besides, at present offering detailed donor profiles delineating centre colour, hair colour, educational activity; they besides screen donors for genetic disorders. Several parents have sued sperm banks after discovering that their donor may have undesirable genes, in cases where their children developed conditions such as autism or a degenerative nerve affliction. In September, the Georgia Supreme Court ruled that one such instance, in which a sperm donor had hidden his history of mental affliction, could move forward. The "deceptive trade practices" of a sperm depository financial institution that misrepresented its donor-screening process, the court ruled, could "essentially amount to ordinary consumer fraud."
Garland-Thomson calls this commercialization of reproduction "velvet eugenics"—velvet for the soft, subtle way it encourages the eradication of inability. Like the Velvet Revolution from which she takes the term, information technology'southward accomplished without overt violence. But it also takes on another connotation as man reproduction becomes more and more subject to consumer choice: velvet, every bit in quality, high-caliber, premium-tier. Wouldn't you want but the all-time for your baby—ane you're already spending tens of thousands of dollars on IVF to conceive? "It turns people into products," Garland-Thomson says.
•••
None of this suggests that testing should be entirely abandoned. Most parents choosing genetic testing are seeking to spare their children real physical suffering. Tay-Sachs disease, for example, is caused past mutations in the HEXA cistron, which causes the destruction of neurons in the encephalon and spinal string. At about three to 6 months former, babies begin losing motor skills, so their vision and hearing. They develop seizures and paralysis. Most do non live past childhood. In that location is no cure.
In the world of genetic testing, Tay-Sachs is a success story. It has been about eliminated through a combination of prenatal testing of fetuses; preimplantation testing of embryos; and, in the Ashkenazi Jewish population, where the mutation is specially prevalent, carrier screening to discourage marriages between people who might together pass on the mutation. The flip side of this success is that having a baby with the disease is no longer simple misfortune considering nothing could have been done. It tin exist seen instead as a failure of personal responsibleness.
Fertility doctors have spoken to me passionately almost expanding admission to IVF for parents who are fertile but who might use embryo screening to prevent passing on serious diseases. In a globe where IVF becomes less expensive and less hard on a woman'southward body, this might very well become the responsible thing to do. And if you're already going through all this to screen for one disease, why not avail yourself of the whole carte of tests? The hypothetical that Karl Emil'due south sister imagined, in which a kid's every risk is laid out, feels closer than ever. How exercise you choose betwixt one embryo with a slightly elevated risk of schizophrenia and another with a moderate risk of chest cancer?
Non surprisingly, those advocating for preimplantation genetic testing prefer to keep the conversation focused on monogenic diseases, where single cistron mutations have severe wellness furnishings. Talk of minimizing the adventure of weather like diabetes and mental illness—which are also heavily influenced by environment—quickly turns to designer babies. "Why do we want to become there?" says David Sable, a former IVF doctor who is now a venture capitalist specializing in life sciences. "Offset with the about scientifically straightforward, the monogenic diseases—cystic fibrosis, sickle cell anemia, hemophilia—where you could define very specifically what the benefit is."
What about Down syndrome, so, I asked, which tin be much less severe than those diseases but is routinely screened for anyhow? His answer surprised me, because that he has spent much of his career working with labs that count chromosomes: "The concept of counting chromosomes every bit a definitive indicator of the truth—I think we're going to await back on that and say, 'Oh my God, we were so misguided.' " Consider the sex chromosomes, he said. "Nosotros've locked ourselves into this male-female binary that nosotros enforced with Twenty and XY." But it's not nearly and then neat. Babies born XX can have male person reproductive organs; those born XY can have female reproductive organs. And others can exist born with an unusual number of sex chromosomes like X, XXY, XYY, XXYY, XXXX, the effects of which range widely in severity. Some might never know there'south anything unusual in their chromosomes at all.
When Rayna Rapp was researching prenatal testing dorsum in the '80s and '90s, she came across multiple sets of parents who chose to abort a fetus with a sex-chromosome anomaly out of fear that it could lead to homosexuality—never mind that there is no known link. They also worried that a male child who didn't conform to XY wouldn't be masculine enough. Reading about their anxieties xxx years after, I could sense how much the ground had moved under our anxiety. Of course, some parents might nonetheless take the same fears, but today the boundaries of "normal" for gender and sexuality encompass much more than than the narrow band of iii decades ago. A child who is neither XX nor XY tin fit into today's world much more than hands than in a rigidly gender-binary i.
Both sex-chromosome anomalies and Down's syndrome were early on targets of prenatal testing—not because they are the virtually unsafe conditions but because they were the easiest to exam for. It'southward just counting chromosomes. As scientific discipline moves by this relatively rudimentary technique, Sable mused, "the term Down syndrome is probably going to go abroad at some point, because we may find that having that tertiary 21 chromosome maybe does non bear a predictable level of suffering or altered function." Indeed, most pregnancies with a 3rd copy of chromosome 21 finish equally miscarriages. Only about twenty percent survive to birth, and the people who are built-in accept a wide range of intellectual disabilities and physical ailments. How can an actress chromosome 21 be incompatible with life in some cases and in other cases result in a boy, like one I met, who can read and write and perform wicked juggling tricks with his diabolo? Clearly, something more than than just an actress chromosome is going on.
As genetic testing has become more widespread, information technology has revealed just how many other genetic anomalies many of united states live with—not only extra or missing chromosomes, merely whole chunks of chromosome getting deleted, chunks duplicated, chunks stuck onto a unlike chromosome birthday, mutations that should be deadly simply that prove up in the healthy adult in front of yous. Every person carries a set of mutations unique to them. This is why new and rare genetic diseases are so difficult to diagnose—if you compare a person's Dna with a reference genome, you come up upwardly with hundreds of thousands of differences, most of them utterly irrelevant to the illness. What, then, is normal? Genetic testing, every bit a medical service, is used to enforce the boundaries of "normal" by screening out the anomalous, just seeing all the anomalies that are compatible with life might really expand our understanding of normal. "It'southward expanded mine," Sable told me.
Sable offered this up as a general observation. He didn't think he was qualified to speculate on what this meant for the future of Downwards syndrome screening, simply I found this conversation nearly genetics unexpectedly resonant with something parents had told me. David Perry, a writer in Minnesota whose thirteen-year-old son has Down syndrome, said he disliked how people with Down syndrome are portrayed as angelic and beautiful; he found it flattening and dehumanizing. He pointed instead to the way the neurodiversity motion has worked to bring autism and ADHD into the realm of normal neurological variation. "We need more kinds of normal," some other father, Johannes Dybkjær Andersson, a musician and artistic director in Copenhagen, said. "That'south a adept affair, when people show upward in our lives"—as his daughter, Sally, did six years ago—"and they are merely normal in a totally unlike way." Her encephalon processes the earth differently than his does. She is unfiltered and open. Many parents have told me how this quality can be awkward or disruptive at times, but it can also break the stifling bounds of social propriety.
Stephanie Meredith, the director of the National Center for Prenatal and Postnatal Resource at the University of Kentucky, told me of the time her 20-year-one-time son saw his sister collide with another actor on the basketball courtroom. She hit the basis and so difficult that an audible crack went through the gym. Before Meredith could react, her son had already leapt from the bleachers and picked his sister up. "He wasn't worried about the rules; he wasn't worried well-nigh decorum. It was only responding and taking care of her," Meredith told me. She had recently been asked a unproblematic but probing question: What was she most proud of nigh her son that was not an achievement or a milestone? The incident on the basketball court was one that came to heed. "It doesn't have to do with accomplishment," she said. "Information technology has to do with caring about another human being."
That question had stayed with Meredith—and it stayed with me—because of how subtly nonetheless powerfully it reframes what parents should value in their children: not grades or basketball trophies or college-acceptance letters or any of the things parents usually brag about. Past doing so, it opens the door to a world less obsessed with accomplishment. Meredith pointed out that Down's syndrome is defined and diagnosed by a medical arrangement fabricated up of people who have to be highly successful to get there, who likely base of operations part of their identity on their intelligence. This is the organisation giving parents the tools to decide what kind of children to have. Might it exist biased on the question of whose lives have value?
•••
When Mary Wasserman gave birth to her son, Michael, in 1961, kids with Down's syndrome in America were yet routinely sent to land institutions. She remembers the doctor announcing, "It's a mongoloid idiot"—the term used before chromosome counting became mutual—and telling her "it" should go to the state institution right away. Wasserman had volunteered for a week at such an establishment in loftier school, and she would never forget the sights, the sounds, the smells. The children were soiled, uncared for, unnurtured. In defiance of her doctor, she took Michael home.
The early on years were not easy for Wasserman, who was a divorced female parent for much of Michael'south childhood. She worked to support them both. In that location weren't actually any formal day cares and so, and the women who ran informal ones out of their homes didn't want Michael. "The other mothers were not comfy," one of them told her after his kickoff calendar week. Others rejected him outright. She hired private babysitters, simply Michael didn't have playmates. It wasn't until he was 8, when a school for kids with disabilities opened nearby, that Michael went to school for the first time.
Michael is 59 now. The life of a child built-in with Downwards syndrome today is very different. Land institutions closed down after exposés of the unsanitary and fell conditions that Wasserman had glimpsed as a high-school educatee. After children with disabilities become habitation from the hospital today, they accept access to a bevy of speech, physical, and occupational therapies from the regime—unremarkably at no cost to families. Public schools are required to provide equal admission to education for kids with disabilities. In 1990, the Americans With Disabilities Human action prohibited discrimination in employment, public transportation, day cares, and other businesses. Inclusion has fabricated people with disabilities a visible and normal role of society; instead of being hidden away in institutions, they live among everyone else. Thank you to the activism of parents like Wasserman, all of these changes have taken place in her son's lifetime.
Does she wish Michael had had the opportunities that kids accept now? "Well," she says, "I think maybe in some ways information technology was easier for us." Of course the therapies would have helped Michael. But there's more pressure on kids and parents today. She wasn't shuttling Michael to appointments or fighting with the school to get him included in general classes or helping him apply to the college programs that have at present proliferated for students with intellectual disabilities. "It was less stressful for us than it is today," she says. Raising a child with a disability has become a lot more intensive—not different raising any child.
I can't count how many times, in the course of reporting this story, people remarked to me, "You know, people with Down syndrome piece of work and become to college now!" This is an important cosmetic to the low expectations that persist and a poignant reminder of how a transforming gild has transformed the lives of people with Down syndrome. But it also does not capture the total range of experiences, especially for people whose disabilities are more serious and those whose families practice not have money and connections. Jobs and college are achievements worth celebrating—similar whatsoever kid'south milestones—but I've wondered why we and then often demand to point to achievements for evidence that the lives of people with Down's syndrome are meaningful.
When I had asked Grete Fält-Hansen what it was similar to open up upwards her life to parents trying to decide what to do after a prenatal diagnosis of Down syndrome, I suppose I was asking her what it was similar to open her life to the judgment of those parents—and also of me, a announcer, who was here request the same questions. As she told me, she had worried at starting time that people might not like her son. Merely she understands now how different each family unit's circumstances can be and how difficult the choice can exist. "I feel sorry about thinking about meaning women and the fathers, that they are met with this option. It'southward almost impossible," she said. "Therefore, I don't gauge them."
Karl Emil had grown bored while nosotros talked in English. He tugged on Grete's hair and smiled sheepishly to remind us that he was still there, that the stakes of our chat were very real and very human.
This article appears in the December 2020 impress edition. Information technology was first published online on November eighteen, 2020.
Source: https://www.theatlantic.com/magazine/archive/2020/12/the-last-children-of-down-syndrome/616928/
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