Ten years ago, our daughter Penny was born. She came into the world with a shock of black hair, piercing blue eyes, and, within hours, a diagnosis of Down syndrome.
We learned the biology quickly: Down syndrome is the popular name for trisomy 21, the presence of three copies of the 21st chromosome instead of the typical two. When she was only a few hours old, the doctors told us she would experience some health problems and cognitive delays. The range of those problems was unpredictable.
“Would you take away the Down syndrome if you could?” I asked myself, and my husband, regularly. At first, the answer seemed obvious. What mother wouldn’t make life easier for her child? What father wouldn’t want his daughter’s life free of obstacles and challenges? Then we started to get to know Penny—her thoughtfulness and humor, her love for books and cheeseburgers, her delight in climbing rocks and holding hands. We started to consider how changing her chromosomal makeup would change her, and as time went on, what had once been an obvious question became more complicated. Eventually, it seemed irrelevant.
Now Penny is 10, and I recently encountered that question once more, when I read about a new study in the journal Neuron explaining some of the structural distinctions in the brains of people with trisomy 21. Researchers took 15 postmortem brains of people with Down syndrome from across the life span—from fetus to toddler to adolescent to adult—and paired each one with a brain from a typically developing patient. Comparing each brain to its partner, they found that the brains of people with Down syndrome had an overall reduction in the “density of myelinated fibers.” Myelin is the white substance that coats axons, the spokes that connect neurons to one another. A reduction in myelin has been linked to a variety of neurological conditions, including multiple sclerosis and Guillain-Barre syndrome, among others.
And a few drugs related to myelin production are already in clinical trials, which means that what was once a parlor game—would you take away the Down syndrome?—may one day be a reality for parents like us. If and when drugs are developed that reverse myelin loss specifically in people with Down syndrome, we’ll join the many other parents of children with brain differences who face similar quandaries. There’s the ongoing debate within the autism community, for example, over whether autism is a brain disorder or a mark of “neurodiversity” that ought to be celebrated. There’s the back-and-forth of parents and educators over whether to medicate children with ADHD. And there’s the rise in use of anti-anxiety drugs and antidepressants among children.
In all of these areas, parents face a series of questions about our responsibility in caring for and shaping our children: Are we forming them into the people they want to be, or asking them to conform to a narrow social notion of who they ought to be?
In my first year as a mother, I threw myself into the technical and philosophical literature about disability, eventually encountering the phrase “social construction of disability.” I didn’t understand the concept at first. Disability seemed to me a simple marker of biology. But in books like Michael Berube’s Life as We Know It, a memoir by a father who is raising a son with Down syndrome, I started to see that disability was not as fixed as I had assumed. Without eyeglasses, for example, many more people in our population would be considered disabled—the common challenge of compromised vision has led to technology that enables people to see, even when their biology prevents them from doing so. Similarly, technology has enabled people with prosthetic limbs to walk and climb and run and dance. And for kids like Penny, who have trouble learning math concepts, the problems can be overcome with different teaching approaches. Much of what typical people call disability could just as easily be called difference that society is unwilling to accommodate.
Many individuals with intellectual disabilities once fell so far outside the mainstream of society that they literally lived apart from everyone else. As recently as the 1970s, babies with Down syndrome were routinely sent to institutions shortly after birth. Now they receive “early intervention” through therapy and support at home. Similarly, the Individuals with Disabilities Education Act (IDEA) of 1975 mandated inclusion in public schools for almost all individuals with disabilities, many of whom had been excluded before. Though plenty of progress is still needed, social changes have alleviated much of the suffering and exclusion experienced by people with intellectual disabilities like Down syndrome.
Still, some of the suffering experienced by people with disabilities does not fit so easily into a social-construction model. To give a mundane example: When Penny was 5 months old, we discovered she had hearing loss as a result of fluid in her ears. She was unable to hear and therefore unable to learn how to communicate; she was also in pain from the pressure of all that fluid in her head. We intervened with ear tubes.
But isolated incidents aside, does her intellectual disability cause her to suffer? And if it does, would neurological enhancement help alleviate her suffering? Or does it stem not from the impairment itself, but from the fact that people have excluded her for not thinking the same way they do? What’s more, intervening with the brain skirts close to intervening with the self. Would we change Penny’s personality if we offered her medication to change her brain?
When I spoke with Tarik Haydar, an associate professor of neurobiology at Boston University and one of the co-authors of the Neuron study, about his research, he acknowledged my concerns. “I just want to provide an option,” he said. “I want to develop something that provides families and people with Down syndrome with the ability to make a decision about whether they want to improve cognition for more independence.” I can’t say I’m opposed to having the choice. I just hope it comes alongside a recognition of the many options already available to enhance the lives of people with intellectual disabilities.
Last week, Penny came home from school with a new chapter book. We sat on the couch and took turns reading pages out loud from Fish in a Tree, by Lynda Mullaly Hunt. The story centers around a sixth-grade girl named Ally who has struggled all her life to learn how to read, and has to fend off the taunts of her classmates. It turns out Ally has dyslexia. Under the watchful eye of a new teacher, and through an alliance with some new friends who are also outside the social norm, she begins to recognize not only the way in which her brain doesn’t work, but also the gifts she has to offer due to her unusual way of seeing the world. In the midst of this recognition, her teacher says, “If you judge a fish on its ability to climb a tree, it will spend its whole life thinking that it’s stupid.”
Ally’s story, and Penny’s story, don’t negate the significance of these new neurological findings, or the fact that drug interventions for cognition will come as good news for some people with Down syndrome. I am not certain that Penny needs medical interventions to improve her cognition, but I know she needs a social context that welcomes her. I also don’t know if any drugs for cognition will become available in Penny’s adolescence, and I don’t know whether we would offer them to her. I do know that in the meantime, as the parents of a daughter who sees the world differently, we will continue to challenge ourselves to expand our definition of who belongs.