Is a Baby Active if It Has Down Syndrome
The Final Children of Down syndrome
Prenatal testing is irresolute who gets built-in and who doesn't. This is only the beginning.
Photographs past Julia Sellmann
Every few weeks or so, Grete Fält-Hansen gets a call from a stranger asking a question for the first time: What is it similar to heighten a child with Down syndrome?
Sometimes the caller is a pregnant adult female, deciding whether to have an abortion. Sometimes a hubby and wife are on the line, the two of them in agonizing disagreement. In one case, Fält-Hansen remembers, it was a couple who had waited for their prenatal screening to come back normal earlier announcing the pregnancy to friends and family. "We wanted to await," they'd told their loved ones, "because if it had Down syndrome, we would have had an abortion." They called Fält-Hansen after their daughter was born—with slanted eyes, a flattened nose, and, nearly unmistakable, the actress re-create of chromosome 21 that defines Down syndrome. They were afraid their friends and family would now remember they didn't love their girl—so heavy are the moral judgments that accompany wanting or non wanting to bring a child with a inability into the earth.
All of these people go in bear upon with Fält-Hansen, a 54-year-former schoolteacher, because she heads Landsforeningen Downs Syndrom, or the National Down Syndrome Association, in Denmark, and considering she herself has an 18-year-old son, Karl Emil, with Down syndrome. Karl Emil was diagnosed after he was built-in. She remembers how fragile he felt in her artillery and how she worried nearly his wellness, but mostly, she remembers, "I idea he was so cute." Ii years afterwards he was born, in 2004, Denmark became one of the first countries in the world to offer prenatal Downward syndrome screening to every meaning woman, regardless of age or other hazard factors. Well-nigh all expecting mothers cull to take the test; 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 Down syndrome are entitled to health intendance, education, even money for the special shoes that fit their wider, more flexible feet. If you lot ask Danes nearly the syndrome, they're likely to bring upwards Morten and Peter, two friends with Down syndrome who starred in popular Telly programs where they cracked jokes and dissected soccer games. Even so a gulf seems to separate the publicly expressed attitudes and individual decisions. Since universal screening was introduced, the number of children born with Down syndrome has fallen sharply. In 2019, only xviii were born in the entire country. (About 6,000 children with Down's syndrome are born in the U.Due south. each year.)
Fält-Hansen is in the strange position of leading an organization probable to have fewer and fewer new members. The goal of her conversations with expecting parents, she says, is non to sway them against abortion; she fully supports a woman'due south right to choose. These conversations are meant to fill in the texture of daily life missing both from the well-meaning cliché that "people with Down's syndrome are ever happy" and from the litany of possible symptoms provided past doctors upon diagnosis: intellectual disability, low muscle tone, heart defects, gastrointestinal defects, allowed disorders, arthritis, obesity, leukemia, dementia. She might explicate that, yes, Karl Emil can read. His notebooks are full of poesy written in his careful, sturdy handwriting. He needed physical and voice communication therapy when he was young. He loves music—his gold-rimmed glasses are modeled afterward his favorite Danish pop star'south. He gets cranky sometimes, like all teens do.
One phone call might stretch into several; some people even come to meet her son. In the end, some join the association with their kid. Others, she never hears from again.
These parents come to Fält-Hansen because they are faced with a choice—one made possible past applied science that peers at the Deoxyribonucleic acid of unborn children. Downward syndrome is oftentimes called the "canary in the coal mine" for selective reproduction. Information technology was i of the first genetic conditions to exist routinely screened for in utero, and it remains the nearly morally troubling considering 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 ever more testing to detect e'er more genetic atmospheric condition. Recent advances in genetics provoke anxieties near a futurity where parents cull what kind of kid to have, or not have. But that hypothetical hereafter is already hither. Information technology's been here for an entire generation.
Fält-Hansen says the calls she receives are about information, helping parents make a truly informed decision. Only they are also moments of seeking, of asking key questions nigh parenthood. Do you lot ever wonder, I asked her, about the families who stop up choosing an ballgame? Practice you feel like you failed to prove that your life—and your child's life—is worth choosing? She told me she doesn't think about information technology this way anymore. Merely in the beginning, she said, she did worry: "What if they don't like my son?"
•••
In January, I took a train from Copenhagen s to the small town of Vordingborg, where Grete, Karl Emil, and his thirty-year-quondam sis, Ann Katrine Kristensen, met me at the station. The three of them formed a phalanx of dark coats waving hello. The weather was typical of January—cold, gray, blustery—but Karl Emil pulled me over to the ice-foam shop, where he wanted to tell me he knew the employees. His favorite water ice-cream flavor, he said, was licorice. "That's very Danish!" I said. Grete and Ann Katrine translated. Then he zagged over to a men'due south clothing store and struck upwardly a conversation with the clerk, who had just seen Karl Emil interviewed on a Danish children's plan with his girlfriend, Chloe. "You didn't tell me you had a girlfriend," the clerk teased. Karl Emil laughed, mischievous and proud.
We sat downwardly at a café, and Grete gave her phone to Karl Emil to busy himself with while we spoke in English. He took selfies; his mother, sis, and I began to talk about Down syndrome and the land's prenatal-screening program. At 1 point, Grete was reminded of a documentary that had sparked an outcry in Denmark. She reclaimed her phone to expect upwards the title: Død Over Downs ("Decease to Down syndrome"). When Karl Emil read over her shoulder, his face crumpled. He curled into the corner and refused to wait at united states of america. He had understood, obviously, and the distress was patently on his face up.
Grete looked up at me: "He reacts because he tin can read."
"He must be aware of the argue?" I asked, which felt perverse to fifty-fifty say. Then he'south aware there are people who don't want people like him to exist born? Yes, she said; her family has always been open up with him. As a child, he was proud of having Down's syndrome. It was ane of the things that fabricated him uniquely Karl Emil. But equally a teenager, he became annoyed and embarrassed. He could tell he was different. "He actually asked me, at some point, if it was because of Down syndrome that he sometimes didn't understand things," Grete said. "I only told him honestly: Yes." As he's gotten older, she said, he's fabricated his peace with it. This arc felt familiar. It's the arc of growing upwardly, in which our self-assuredness as young children gets upended in the storms of adolescence, only somewhen, hopefully, we come to accept who we are.
The decisions parents make afterwards prenatal testing are private and individual ones. Just when the decisions so overwhelmingly swing 1 mode—to arrest—it does seem to reflect something more: an entire society'southward judgment about the lives of people with Down syndrome. That's what I saw reflected in Karl Emil's confront.
Kingdom of denmark is unusual for the universality of its screening program and the comprehensiveness of its data, but the pattern of high ballgame rates after a Down syndrome diagnosis holds truthful beyond Western Europe and, to a somewhat bottom extent, in the United States. In wealthy countries, it seems to be at once the best and the worst fourth dimension for Down's syndrome. Better health care has more than doubled life expectancy. Better admission to education means most children with Down syndrome volition learn to read and write. Few people speak publicly about wanting to "eliminate" Down syndrome. Still individual choices are adding up to something very close to that.
In the 1980s, as prenatal screening for Down syndrome became common, the anthropologist Rayna Rapp described the parents on the frontier of reproductive technology as "moral pioneers." Of a sudden, a new ability was thrust into the easily of ordinary people—the ability to decide what kind of life is worth bringing into the earth.
The medical field has besides been grappling with its ability to offering this ability. "If no ane with Down syndrome had ever existed or ever would exist—is that a terrible thing? I don't know," says Laura Hercher, a genetic counselor and the manager of student enquiry at Sarah Lawrence College. If you take the health complications linked to Down's syndrome, such equally increased likelihood of early-onset Alzheimer'southward, leukemia, and center defects, she told me, "I don't remember anyone would argue that those are good things."
But she went on. "If our world didn't have people with special needs and these vulnerabilities," she asked, "would we exist missing a part of our humanity?"
•••
Sixty-one years ago, the start known prenatal exam for a genetic disorder in the earth took place in Copenhagen. The patient was a 27-year-old woman who was a carrier for hemophilia, a rare and severe bleeding disorder that is passed from mothers to sons. She had already given nascency to one infant boy, who lived for just v hours. The obstetrician who delivered the baby, Fritz Fuchs, told her to come back if she ever became pregnant again. And in 1959, according to the published case study, she did come up back, saying she couldn't become through with her pregnancy if she was conveying another son.
Fuchs had been thinking virtually what to exercise. Forth with a cytologist named Povl Riis, he'd been experimenting with using fetal cells floating in the xanthous amniotic fluid that fills the womb to determine a babe's sex. A boy would have a 50 percent risk of inheriting hemophilia; a girl would accept almost no risk. But first 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 woman gave birth to a daughter a few months later. If the baby had been a boy, though, she was prepared to have an abortion—which was legal under Danish law at the time on "eugenic grounds" for fetuses at adventure for severe mental or concrete illness, according to Riis and Fuchs's newspaper describing the instance. They best-selling the possible danger of sticking a needle in the abdomen of a pregnant woman, but wrote that it was justified "because the method seems to be useful in preventive eugenics."
That discussion, eugenics, today evokes images that are specific and heinous: forced sterilization of the "feebleminded" in early-20th-century America, which in plough 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 once a mainstream scientific pursuit, and eugenicists believed that they were bettering humanity. Denmark, also, drew inspiration from the U.Southward., and it passed a sterilization police force in 1929. Over the side by side 21 years, five,940 people were sterilized in Denmark, the bulk considering they were "mentally retarded." Those who resisted sterilization were threatened with institutionalization.
Eugenics in Denmark never became as systematic and vehement every bit information technology did in Germany, only the policies came out of similar underlying goals: improving the health of a nation by preventing the birth of those deemed to be burdens on social club. The term eugenics eventually fell out of favor, but in the 1970s, when Kingdom of denmark began offering 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 toll was less than that of institutionalizing a child with a disability for life. The stated purpose was "to forestall birth of children with astringent, lifelong disability."
That language too has long since changed; in 1994, the stated purpose of the testing became "to offer women a choice." Activists similar Fält-Hansen have likewise pushed back against the subtle and not-so-subtle ways that the medical organisation encourages women to choose abortion. Some Danish parents told me that doctors automatically assumed they would want to schedule an abortion, equally if there was really no other pick. This is no longer the case, says Puk Sandager, a fetal-medicine specialist at Aarhus Academy Hospital. Ten years ago, doctors—especially older doctors—were more likely to await parents to end, she told me. "And at present we do not expect anything." The National Down's syndrome Clan has also worked with doctors to alter the language they use with patients—"probability" instead of "risk," "chromosome aberration" instead of "chromosome error." And, of course, hospitals at present connect expecting parents with people like Fält-Hansen to take those conversations about what it's similar to raise a child with Down syndrome.
Peradventure all of this has had some effect, though information technology's hard to say. The number of babies born to parents who chose to keep a pregnancy afterwards a prenatal diagnosis of Down syndrome in Denmark has ranged from zero to 13 a yr since universal screening was introduced. In 2019, there were seven. (Xi other babies were born to parents who either declined the exam or got a false negative, making the total number of babies born with Down syndrome concluding yr eighteen.)
Why so few? "Looking at it from the outside, a country like Denmark, if yous want to enhance a child with Down syndrome, this is a good environs," says Stina Lou, an anthropologist who has studied how parents make decisions subsequently a prenatal diagnosis of a fetal anomaly. Since 2011, she has embedded in the fetal-medicine unit at Aarhus University Hospital, one of the largest hospitals in Denmark, where she has shadowed Sandager and other doctors.
Under the 2004 guidelines, all significant women in Denmark are offered a combined screening in the first trimester, which includes claret 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 up with a modest take a chance of miscarriage. More recently, hospitals take started offering noninvasive prenatal testing, which uses fragments of fetal Deoxyribonucleic acid floating in the female parent's claret. That option has not become popular in Denmark, though, probably because the invasive tests can selection up a suite of genetic disorders in addition to Down syndrome. More diseases ruled out, more than peace of mind.
But Lou was interested in the times when the tests did non provide peace of listen, when they in fact provided the opposite. In a written report of 21 women who chose abortion after a prenatal diagnosis of Down syndrome, she found that they had tended to base their decisions on worst-case scenarios. An actress re-create of chromosome 21 tin cause a variety of symptoms, the severity of which is not known until nativity or fifty-fifty later. Nearly people with Down syndrome learn to read and write. Others are nonverbal. Some do not have heart defects. Others spend months or even years in and out of the infirmary to fix a heart valve. Most accept good for you digestive systems. Others lack the nervus endings needed to conceptualize bowel movements, necessitating more surgeries, possibly even a stoma bag or diapers. The women who chose ballgame feared the worst possible outcomes. Some even grieved the possibility of aborting a child who might have had a mild form of Down syndrome. But in the end, Lou told me, "the uncertainty just becomes besides much."
This accent on incertitude came up when I spoke with David Wasserman, a bioethicist at the U.Due south. National Institutes of Health who, along with his collaborator Adrienne Asch, has written some of the nearly pointed critiques of selective abortion. (Asch died in 2013.) They argued that prenatal testing has the outcome of reducing an unborn child to a single aspect—Down syndrome, for case—and making parents judge the kid'south 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's profound chance aversion."
It's hard to know for sure whether the people in Lou's study decided to abort for the reasons they gave or if these were retrospective justifications. Only when Lou subsequently interviewed parents who had made the unusual selection to proceed a pregnancy after a Down's syndrome diagnosis, she found them more willing to embrace uncertainty.
Parents of children with Down's syndrome have described to me the initial procedure of mourning the child they thought they would have: the kid whom they were going to walk downward the alley, who was going to graduate from college, who was going to become president. None of this is guaranteed with whatsoever kid, of grade, simply while most parents go through a slow realignment of expectations over the years, prenatal testing was a rapid plummet into thwarting—all those dreams, however unrealistic, evaporating at once. And so the doctors present yous with a long list of medical conditions associated with Down syndrome. Call up about it this way, Karl Emil's sis, Ann Katrine, said: "If y'all handed whatsoever expecting parent a whole list of everything their child could perchance see during their entire life bridge—illnesses and stuff like that—so anyone would be scared."
"Nobody would have a baby," Grete said.
•••
A peculiar result of Denmark'due south universal-screening program and loftier abortion charge per unit for Down syndrome is that a fair number of babies built-in with Down syndrome are built-in to parents who essentially got a fake negative. Their beginning-trimester screening results said their odds were very low—so depression that they needed no invasive follow-up testing. They just 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 chosen to arrest, had they known.
The 24-hour interval subsequently I met Grete, I attended a meeting of the local Copenhagen Down syndrome group. The woman who invited me, Louise Aarsø, had a then-5-year-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, 2 of the vii other families told me their prenatal screening had suggested extremely low odds. At nascency, they were surprised. A few others said they had chosen to keep the pregnancy despite a high probability for Down syndrome. Ulla Hartmann, whose son Ditlev was 18, noted that he was born before the national screening plan began. "We're very thankful we didn't know, because we had two twin boys when I got significant with Ditlev and I really don't think nosotros would have been, 'Okay, allow'south take this challenge when we have these monkeys up in the curtains,' " she told me. "But you grow with the challenge."
Daniel Christensen was i of the parents who had been told the odds of Down's syndrome were very low, something similar i in ane,500. He and his wife didn't have to make a option, and when he thinks dorsum on information technology, he said, "what scares me the nigh is actually how fiddling nosotros knew near Downwardly syndrome." What would the basis of their option accept been? Their son August is 4 now, with a twin sister, who Christensen half-jokingly said was "almost normal." The other parents laughed. "Nobody's normal," he said.
And then the woman to my right spoke; she asked me not to use her name. She wore a green blouse, and her blond hair was pulled into a ponytail. When we all turned to her, I noticed that she had begun to tear upward. "Now I'm moved from all the stories; I'chiliad a little …" She paused to catch her breath. "My answer is non that cute." The Down's syndrome odds for her son, she said, were ane in 969.
"You remember the exact number?" I asked.
"Yeah, I exercise. I went back to the papers." The probability was low enough that she didn't remember nigh it after he was built-in. "On the one hand I saw the problems. And on the other hand he was perfect." It took four months for him to become diagnosed with Down syndrome. He is 6 now, and he cannot speak. Information technology frustrates him, she said. He fights with his brother and sis. He bites because he cannot express himself. "This has just been so many times, and you never feel rubber." Her experience is not representative of all children with Down syndrome; lack of impulse control is common, only violence is not. Her bespeak, though, was that the image of a happy-become-lucky child so often featured in the media is not always representative either. She wouldn't have called this life: "We would have asked for an abortion if we knew."
Some other parent chimed in, and the conversation hopscotched to a related topic so some other until it had moved on entirely. At the end of the meeting, as others stood and gathered their coats, I turned to the adult female again because I was even so shocked that she was willing to say what she'd said. Her access seemed to violate an unspoken lawmaking of maternity.
Of class, she said, "it's shameful if I say these things." She loves her child, because how can a mother not? "But you love a person that hits yous, bites you? If you lot have a husband that bites you, y'all can say cheerio … just if you have a child that hits you, y'all tin can't do anything. You tin't just say, 'I don't want to be in a human relationship.' Because it's your child." To have a child is to begin a relationship that y'all cannot sever. It is supposed to exist unconditional, which is perhaps what almost troubles u.s. almost selective abortion—it's an admission that the relationship tin can in fact be conditional.
•••
Parenting is a plunge into the unknown and the uncontrollable. It is beautiful in this fashion, merely also daunting.
In the cold, scientific realm of biology, reproduction begins with a random genetic shuffling—an act of fate, if you lot were to be less common cold, more than poetic. The 23 pairs of chromosomes in our cells line up so that the DNA we inherited from our mother and father tin can exist remixed and divided into sets of 23 single chromosomes. Each egg or sperm gets one such prepare. In women, this chromosomal division begins, remarkably, when they themselves are fetuses in their female parent'due south womb. The chromosomes freeze in identify for xx, 30, fifty-fifty xl-plus years equally the fetus becomes a infant, a girl, a woman. The bicycle finishes just when the egg is fertilized. During the intervening years, the proteins holding chromosomes together can degrade, resulting in eggs with also many or too few chromosomes. This is the biological mechanism behind almost cases of Down syndrome—95 pct of people born with an extra re-create of chromosome 21 inherited information technology from their female parent. And this is why the syndrome is often, though not always, linked to the age of the mother.
In the interviews I've conducted, and in interviews Lou and researchers across the U.S. accept conducted, the selection of what to do after a prenatal test fell unduly on mothers. At that place were fathers who aching over the selection too, but mothers normally diameter most of the burden. There is a feminist caption (my trunk, my pick) and a less feminist 1 (family unit is still primarily the domain of women), merely it'southward true either way. And in making these decisions, many of the women seemed to conceptualize the judgment they would face up.
Lou told me she had wanted to interview women who chose ballgame afterwards a Down syndrome diagnosis because they're a silent majority. They are rarely interviewed in the media, and rarely willing to be interviewed. Danes are quite open up well-nigh abortion—astonishingly then to my American ears—but abortions for a fetal anomaly, and particularly Down syndrome, are different. They notwithstanding deport a stigma. "I remember it's because we as a social club similar to think of ourselves as inclusive," Lou said. "We are a rich lodge, and nosotros retrieve it'southward of import that different types of people should be here." And for some of the women who terminate up choosing abortion, "their ain self-understanding is a lilliputian shaken, because they have to accept they aren't the kind of person similar they thought," she said. They were not the type of person who would cull to have a child with a disability.
For the women in Lou's written report, ending a pregnancy later on 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 decision to abort was not taken lightly. One Danish adult female I'll call "L" told me how terrible it was to experience her babe inside her in one case she'd made the determination to terminate. In the infirmary bed, she began sobbing so hard, the staff had difficulty sedating her. The depth of her emotions surprised her, because she was so sure of her conclusion. The abortion was two years agone, and she doesn't think about it much anymore. But recounting it on the phone, she began crying again.
She was disappointed to discover and then footling 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 also feels like "you're doing something incorrect." L is a filmmaker, and she wanted to make a documentary virtually choosing abortion after a Down syndrome diagnosis. She even thought she would share her own story. Only she hadn't been able to notice a couple willing to exist in this documentary, and she wasn't ready to put herself out at that place alone.
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 certain preoccupation among certain women. Her subjects represented a reasonably various slice of the city, but center-class white women peculiarly seemed fixated on the thought of "selfishness." The women she interviewed were among the kickoff in their families to forgo homemaking for paid work; they had not just jobs but careers that were cardinal to their identity. With birth control, they were having fewer children and having them later on. They had more reproductive autonomy than women had e'er had in man history. (Rapp herself came to this research subsequently having an abortion because of Downwards syndrome when she became pregnant as a 36-year-quondam professor.) "Medical engineering science transforms their 'choices' on an individual level, allowing them, similar 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 have a kid with a disability out of fear for how it might impact i's career, for instance—becomes judged every bit "selfishness." Medical technology can offer women a choice, just it does not instantly transform the society around them. It does non dismantle the expectation that women are the master caregivers or erase the ideal of a adept mother as one who places no limits on her devotion to her children.
The axis of choice to feminism as well brings it into uncomfortable conflict with the disability-rights movement. Anti-abortion-rights activists in the U.Southward. have seized on this to innovate bills banning selective abortion for Down syndrome in several states. Feminist disability scholars accept 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 even because it 'merely seems too hard' must be respected," Marsha Saxton, the director of research at the World Constitute on Disability, wrote in 1998. But Saxton calls information technology a choice fabricated "under duress," arguing that a woman faced with this decision is still constrained today—by pop misconceptions that make life with a disability out to be worse than it really is and by a club 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 live 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 resources. But she besides recognizes how this logic pins the entire weight of an inclusive society on individual women.
was introduced in 2004, the number of children in the country born with the syndrome has fallen sharply. In 2019, it was just eighteen. (Julia Sellmann)
No wonder, then, that "choice" tin can feel like a burden. In one small study of women in the U.Due south. who chose abortion after a diagnosis of a fetal anomaly, ii-thirds said they'd hoped—or even prayed—for a miscarriage instead. It's not that they wanted their husbands, their doctors, or their lawmakers to tell them what to do, but they recognized that option comes with responsibility and invites judgment. "I accept guilt for not existence the kind of person who could parent this particular type of special demand," said 1 woman in the written report. "Guilt, guilt, guilt."
The introduction of a choice reshapes the terrain on which we all stand up. To opt out of testing is to become someone who chose to opt out. To exam and end a pregnancy considering of Down syndrome is to go someone who chose not to take a child with a disability. To test and keep the pregnancy after a Down's syndrome diagnosis is to become someone who chose to accept a child with a inability. Each selection puts y'all backside ane demarcating line or another. There is no neutral ground, except perhaps in hoping that the test comes dorsum negative and you never accept to choose what'south next.
What kind of choice is this, if what you hope is to not have to choose at all?
•••
Downwards syndrome is unlikely to ever disappear from the world completely. Equally women wait longer to have children, the incidence of pregnancies with an actress re-create of chromosome 21 is going up. Prenatal testing can also in rare cases exist wrong, and some parents volition choose non to abort or not to examination at all. Others will not have admission to abortion.
In the Usa—which has no national health-care system, no government mandate to offer prenatal screening—the best estimate for the termination rate later a diagnosis of Downward syndrome is 67 percentage. But that number conceals stark differences within the land. One written report found higher rates of termination in the West and Northeast and among mothers who are highly educated. "On the Upper Due east Side of Manhattan, it's going to be completely different than in Alabama," said Laura Hercher, the genetic counselor.
These differences worry Hercher. If only the wealthy tin can afford to routinely screen out certain genetic weather, then those conditions can become proxies of class. They can become, in other words, other people's bug. Hercher worries about an empathy gap in a world where the well-off feel insulated from sickness and inability.
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 tin cost tens of thousands of dollars. Labs now offer testing for a menu of genetic conditions—most of them rare and severe weather such equally Tay-Sachs disease, cystic fibrosis, and phenylketonuria—allowing parents to select healthy embryos for implantation in the womb. Scientists have likewise started trying to understand more mutual conditions that are influenced by hundreds or even thousands of genes: diabetes, heart disease, loftier cholesterol, cancer, and—much more controversially—mental illness and autism. In late 2018, Genomic Prediction, a visitor in New Bailiwick of jersey, began offering to screen embryos for risk of hundreds of conditions, including schizophrenia and intellectual inability, though it has since quietly backtracked on the latter. The one test customers keep request for, the company's chief scientific officer told me, is for autism. The science isn't there all the same, merely the demand is.
The politics of prenatal testing for Down syndrome and ballgame are currently yoked together by necessity: The only intervention offered for a prenatal test that finds Down syndrome is an abortion. But mod reproduction is opening up more means for parents to choose what kind of child to take. PGT is one example. Sperm banks, too, now offering detailed donor profiles delineating centre color, hair color, educational activity; they also screen donors for genetic disorders. Several parents have sued sperm banks later discovering that their donor may have undesirable genes, in cases where their children developed conditions such as autism or a degenerative nervus illness. In September, the Georgia Supreme Court ruled that ane such case, in which a sperm donor had subconscious his history of mental illness, could move forward. The "deceptive trade practices" of a sperm bank that misrepresented its donor-screening process, the courtroom ruled, could "essentially amount to ordinary consumer fraud."
Garland-Thomson calls this commercialization of reproduction "velvet eugenics"—velvet for the soft, subtle manner it encourages the eradication of disability. Like the Velvet Revolution from which she takes the term, information technology'south accomplished without overt violence. But information technology also takes on another connotation as human reproduction becomes more and more subject to consumer choice: velvet, as in quality, high-quotient, premium-tier. Wouldn't you want merely the best for your baby—i you lot'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 exist entirely abandoned. Most parents choosing genetic testing are seeking to spare their children real physical suffering. Tay-Sachs disease, for example, is acquired by mutations in the HEXA gene, which causes the destruction of neurons in the encephalon and spinal cord. At about iii to vi months former, babies begin losing motor skills, then their vision and hearing. They develop seizures and paralysis. Nearly do not live past childhood. There is no cure.
In the world of genetic testing, Tay-Sachs is a success story. It has been nearly eliminated through a combination of prenatal testing of fetuses; preimplantation testing of embryos; and, in the Ashkenazi Jewish population, where the mutation is especially prevalent, carrier screening to discourage marriages betwixt 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 because cipher could accept been done. It tin can exist seen instead as a failure of personal responsibility.
Fertility doctors have spoken to me passionately about expanding access to IVF for parents who are fertile but who might use embryo screening to foreclose passing on serious diseases. In a world where IVF becomes less expensive and less hard on a adult female's trunk, this might very well become the responsible matter to practice. And if you're already going through all this to screen for one disease, why not avail yourself of the whole carte du jour of tests? The hypothetical that Karl Emil's sister imagined, in which a child'due south every run a risk is laid out, feels closer than ever. How do yous choose betwixt one embryo with a slightly elevated chance of schizophrenia and some other with a moderate hazard of breast cancer?
Not surprisingly, those advocating for preimplantation genetic testing adopt to keep the conversation focused on monogenic diseases, where single gene mutations have severe health effects. Talk of minimizing the risk of conditions like diabetes and mental illness—which are also heavily influenced past environment—chop-chop 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. "Beginning with the most scientifically straightforward, the monogenic diseases—cystic fibrosis, sickle prison cell anemia, hemophilia—where yous could define very specifically what the benefit is."
What about Down's syndrome, then, I asked, which tin be much less severe than those diseases but is routinely screened for anyway? His answer surprised me, considering that he has spent much of his career working with labs that count chromosomes: "The concept of counting chromosomes equally a definitive indicator of the truth—I recall we're going to look back on that and say, 'Oh my God, we were and so misguided.' " Consider the sexual activity chromosomes, he said. "We've locked ourselves into this male-female binary that we enforced with XX and XY." Just it'south not nearly so neat. Babies born Twenty can have male reproductive organs; those born XY can have female reproductive organs. And others can be born with an unusual number of sexual practice chromosomes similar 10, XXY, XYY, XXYY, XXXX, the furnishings of which range widely in severity. Some might never know there's annihilation unusual in their chromosomes at all.
When Rayna Rapp was researching prenatal testing back in the '80s and '90s, she came across multiple sets of parents who chose to arrest a fetus with a sex-chromosome bibelot out of fear that it could atomic number 82 to homosexuality—never mind that there is no known link. They besides worried that a male child who didn't conform to XY wouldn't exist masculine enough. Reading about their anxieties thirty years later, I could sense how much the ground had moved under our feet. Of course, some parents might still take the same fears, but today the boundaries of "normal" for gender and sexuality encompass much more than the narrow band of three decades ago. A child who is neither XX nor XY can fit into today's world much more easily than in a rigidly gender-binary i.
Both sex-chromosome anomalies and Down syndrome were early targets of prenatal testing—non considering they are the virtually unsafe conditions but because they were the easiest to test for. It's merely counting chromosomes. Equally science moves past this relatively rudimentary technique, Sable mused, "the term Down syndrome is probably going to become away at some point, because we may detect that having that 3rd 21 chromosome possibly does not bear a predictable level of suffering or contradistinct part." Indeed, most pregnancies with a tertiary copy of chromosome 21 finish as miscarriages. Only about xx percent survive to birth, and the people who are born take a wide range of intellectual disabilities and physical ailments. How tin an extra chromosome 21 be incompatible with life in some cases and in other cases issue in a boy, like one I met, who tin can read and write and perform wicked juggling tricks with his diabolo? Clearly, something more than just an extra chromosome is going on.
As genetic testing has become more widespread, it has revealed merely how many other genetic anomalies many of us live with—not only extra or missing chromosomes, but whole chunks of chromosome getting deleted, chunks duplicated, chunks stuck onto a dissimilar chromosome altogether, mutations that should be mortiferous but that bear witness up in the healthy adult in front of y'all. Every person carries a set up of mutations unique to them. This is why new and rare genetic diseases are so hard to diagnose—if you lot compare a person's Dna with a reference genome, you come upwardly with hundreds of thousands of differences, most of them utterly irrelevant to the disease. What, then, is normal? Genetic testing, every bit a medical service, is used to enforce the boundaries of "normal" by screening out the dissonant, but seeing all the anomalies that are compatible with life might really expand our understanding of normal. "It'due south expanded mine," Sable told me.
Sable offered this up as a general ascertainment. He didn't retrieve he was qualified to speculate on what this meant for the futurity of Down syndrome screening, but I found this chat nearly genetics unexpectedly resonant with something parents had told me. David Perry, a writer in Minnesota whose 13-year-erstwhile son has Down's syndrome, said he disliked how people with Down syndrome are portrayed as angelic and cute; he institute it flattening and dehumanizing. He pointed instead to the way the neurodiversity movement has worked to bring autism and ADHD into the realm of normal neurological variation. "We need more kinds of normal," another begetter, Johannes Dybkjær Andersson, a musician and artistic manager in Copenhagen, said. "That'southward a good thing, when people prove upwardly in our lives"—every bit his daughter, Sally, did 6 years ago—"and they are just normal in a totally different way." Her encephalon processes the world differently than his does. She is unfiltered and open up. Many parents take told me how this quality can exist awkward or confusing at times, but it tin can likewise intermission the stifling bounds of social propriety.
Stephanie Meredith, the director of the National Center for Prenatal and Postnatal Resources at the University of Kentucky, told me of the time her 20-twelvemonth-old son saw his sister collide with another player on the basketball court. She hitting the footing then hard that an audible crack went through the gym. Earlier Meredith could react, her son had already leapt from the bleachers and picked his sis upward. "He wasn't worried virtually the rules; he wasn't worried about decorum. Information technology was merely responding and taking care of her," Meredith told me. She had recently been asked a simple simply probing question: What was she most proud of nigh her son that was non an achievement or a milestone? The incident on the basketball courtroom was one that came to mind. "Information technology doesn't have to do with accomplishment," she said. "It has to do with caring about some other human existence."
That question had stayed with Meredith—and it stayed with me—because of how subtly yet powerfully information technology reframes what parents should value in their children: not grades or basketball trophies or college-credence messages or whatsoever of the things parents ordinarily brag about. By doing then, it opens the door to a world less obsessed with accomplishment. Meredith pointed out that Down syndrome is defined and diagnosed by a medical system made up of people who have to be highly successful to get in that location, who likely base function of their identity on their intelligence. This is the organization giving parents the tools to decide what kind of children to have. Might it exist biased on the question of whose lives accept value?
•••
When Mary Wasserman gave birth to her son, Michael, in 1961, kids with Down syndrome in America were still routinely sent to land institutions. She remembers the doctor announcing, "Information technology'southward a mongoloid idiot"—the term used before chromosome counting became common—and telling her "it" should go to the state institution right abroad. Wasserman had volunteered for a calendar week at such an institution in high 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 years were not piece of cake for Wasserman, who was a divorced female parent for much of Michael's childhood. She worked to support them both. There weren't really any formal 24-hour interval cares so, and the women who ran breezy ones out of their homes didn't desire Michael. "The other mothers were non comfortable," 1 of them told her after his showtime week. Others rejected him outright. She hired individual babysitters, but Michael didn't have playmates. Information technology wasn't until he was 8, when a school for kids with disabilities opened nearby, that Michael went to school for the first fourth dimension.
Michael is 59 at present. The life of a child born with Down syndrome today is very different. Land institutions airtight downwards after exposés of the unsanitary and cruel conditions that Wasserman had glimpsed every bit a loftier-school educatee. After children with disabilities go home from the hospital today, they take access to a bevy of speech, physical, and occupational therapies from the government—commonly at no toll to families. Public schools are required to provide equal access to education for kids with disabilities. In 1990, the Americans With Disabilities Human activity prohibited discrimination in employment, public transportation, day cares, and other businesses. Inclusion has made people with disabilities a visible and normal part of club; instead of being subconscious abroad in institutions, they alive among everyone else. Thanks to the activism of parents like Wasserman, all of these changes accept taken place in her son's lifetime.
Does she wish Michael had had the opportunities that kids accept now? "Well," she says, "I call back mayhap in some ways it 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 utilize to the college programs that accept now proliferated for students with intellectual disabilities. "It was less stressful for us than it is today," she says. Raising a child with a inability has become a lot more intensive—not unlike raising whatever kid.
I can't count how many times, in the course of reporting this story, people remarked to me, "You know, people with Downwardly syndrome work and go to higher now!" This is an of import corrective to the low expectations that persist and a poignant reminder of how a transforming society has transformed the lives of people with Down syndrome. Only it also does not capture the full range of experiences, specially for people whose disabilities are more serious and those whose families exercise not have money and connections. Jobs and college are achievements worth celebrating—like whatsoever kid's milestones—but I've wondered why we so often need 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 like to open upwardly her life to parents trying to make up one's mind what to do after a prenatal diagnosis of Down syndrome, I suppose I was asking her what it was like to open upwards her life to the judgment of those parents—and also of me, a journalist, who was hither asking the same questions. Equally she told me, she had worried at first that people might not like her son. But she understands at present how different each family unit's circumstances tin can be and how hard the selection can exist. "I feel sad about thinking about significant women and the fathers, that they are met with this option. It'south virtually impossible," she said. "Therefore, I don't judge them."
Karl Emil had grown bored while we talked in English. He tugged on Grete'southward pilus and smiled sheepishly to remind us that he was still there, that the stakes of our chat were very real and very man.
This article appears in the December 2020 print edition. It was showtime published online on November 18, 2020.
Is a Baby Active if It Has Down Syndrome
Source: https://www.theatlantic.com/magazine/archive/2020/12/the-last-children-of-down-syndrome/616928/
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