Who gets to decide if a disability is bad? This is one of the fundamental questions raised by a recent STAT feature on the genetic testing of embryos, which also looks at how that decision is reached. Andrew Joseph follows two women who knowingly pursue a pregnancy with an embryo that has a mutation that would put their child at a higher risk for certain cancers. It was the only viable embryo the couple had, so if they wanted a baby they didn’t have much of a choice.
Their doctor said he was comfortable enabling their pregnancy, but would have declined if the mutation was one that causes Down syndrome. Joseph’s story looks at the “ethical morass” the genetic testing of embryos is creating for health practitioners and patients, and notes that sometimes patients actually want embryos with specific “genetic anomalies.”
Most frequently, experts say, this happens in the cases of patients who are deaf or have dwarfism and want to have children with the same traits. Such instances highlight the delicacy of rendering judgments about what’s acceptable in reproductive medicine and what’s not.
Joseph explains that some communities of people with disabilities “bristle at their DNA being described as having ‘genetic anomalies,’ and at the perception that their qualities are disabilities to be avoided.” However, health professionals in his story repeatedly cite Down syndrome as a dealbreaker, something to be avoided at all costs.
I wondered why this was, so I did some research and found an effort by people with Down syndrome and their families to normalize the condition. An ABC News segment from last year highlighted a Facebook post in which a girl with Down syndrome tells people it’s “not scary.” Just last month, Ohio lawmakers introduced a bill which attempted to make it illegal to abort fetuses with the Down syndrome gene mutation. This week, according to the BBC, an 11-year-old boy with Down syndrome in the U.K. got a modeling job that his mother hopes will “encourage equal representation of disabilities in the media.” And FOX Business profiled a 21-year-old entrepreneur with Down syndrome in Ohio, who asserted, “Down syndrome never holds me back. I love inspiring people.”
There are great, nuanced longer features too. Dan Hurley wrote for The New York Times Magazine in 2011 about Alberto Costa, a neuroscientist whose daughter’s Down syndrome inspired him to redirect his professional energies toward drug treatments for the condition. He and his colleagues highlight how “amazingly plastic” and flexible the brain is, insisting that drugs — specifically for depression and Alzheimer’s — may help promote brain-cell growth for those with Down syndrome, improving their memories and cognitive functioning.
Costa fears that the medical community will prioritize eliminating Down syndrome over finding treatments to improve the lives of those who already have it. His daughter serves as a poignant example of how Down syndrome doesn’t lead to an empty life: she does algebra problems in lieu of bedtime stories, she’s learned Portuguese, has a favorite TV show, cracks jokes, and believes her dad is the “greatest scientist.” While her father acknowledges that “vigorous education and support” can vastly improve the lives of people with Down syndrome, the ultimate goal — helping people with Down syndrome “achieve autonomy” and independence — requires something more.
Amy Julia Becker wrote for The Atlantic last year about her own experience as the mother of a child with Down syndrome, especially in light of advancements in treatment like those Costa is working on. She grapples not just with the ethics of genetic testing of embryos, but with the treatment itself. By “treating” the cognitive aspects of Down syndrome, as opposed to just the physical ones, are we seeking to change people with Down syndrome? And are we doing it to improve their lives, or to make them less inconvenient for ours? Becker ultimately makes the case that it is society that needs to adapt to appreciate and include people with Down syndrome.
Another case for adapting environments to be better for people with Down syndrome is made by the Antonelli family in a 2016 Washington Post feature by Sally Jenkins. The Antontellis are athletes with three sons, and their middle child was born with Down syndrome. They speak candidly about how they struggled with the diagnosis before deciding to channel their children’s athleticism and raise their son with the belief that he is capable of doing just about everything, even if it takes a little longer or is a little harder. His mother fights to find him teachers and trainers who won’t isolate him away from mainstream kids, and his success and ability to thrive make the case for inclusion not just as a moral imperative but a health one. As Jenkins notes:
In 1983, life expectancy for people with Down syndrome was just 25. As of 1997, it was 50. Today it’s 60. One reason is a better understanding of medical complications that go with the disorder. But another is the shift away from institutionalization and low-bar care, toward meaningful education and higher expectations.
This recalls the thesis of David Dobbs’ recent Pacific Standard piece on mental illness: isolation is bad for people’s health. Community and acceptance are extending the life spans of people with Down syndrome.
Still, even as parents of kids with Down syndrome speak out about the positives of their experiences, some feel strongly that prospective parents should have the right to abort if they don’t feel up to the challenge. In a Good Housekeeping feature by Asher Fogle, one mother argues that prohibiting abortion is “just as bad as cutting all government programs for them,” acknowledging that although she has the resources to take care of her daughter, “not every parent does.” The Disability Insurance Trust Fund provided by Social Security is getting smaller and smaller, and many states are slashing services for children with special needs.
Another factor complicating the genetic testing of embryos is that as advanced as the science is, it still has the possibility of inaccuracies. Sometimes some cells from an embryo will have a typical number of chromosomes, but a few will have an “abnormal” number. As Joseph writes:
Experts are finding that in some cases, those embryos develop into healthy children, perhaps because the abnormal cells die off or are partitioned into the placenta. The issue has led to concerns that some embryos that could mature into healthy children are being discarded, limiting options for prospective parents. And it’s an example of how, as the ethics committee wrote, “genetic testing of embryos can produce results that are indeterminate, inaccurate, or both.”