We are walking hand in hand, her small palm nestled snugly into my own, its weight a comfort I have come to take for granted. When she was born, I spent hours gazing at that palm, my eyes tracing the path of the crease that ran from one side to the other, the crease I could not find on my own upturned hand, the crease that served as one more “marker” for the doctors.
But I am not thinking about her simian crease, or about her diagnosis, or about those early years of wondering how she would change us and whether we could withstand it. I am simply feeling grateful for the early scent of spring, and the lingering glow of the sun, and that familiar warmth.
I ask, “So how was school today?”
I wait, having learned that sometimes another sentence will come, if only I give her the time. Sure enough, she says, “I worked on my research project.”
“What are you researching?” I ask. I try to sound casual, as if I am not greedy to hear more. This fourth-grade year is the first one when she has been willing, or able, to give me details about her day consistently.
“Down syndrome,” she says. “My big question that I wrote on my piece of paper is, ‘Why is Down syndrome scary?’”
“Huh,” I say, with a lump in my throat.
“I haven’t answered the question yet. I know you were scared when I’s born. But I don’t know why.”
The fear that once swept over me like surf pounding a beach is hard to even conjure in my imagination anymore. Fear for her health, fears about how other people would treat us, fears about whether she would ever grow up and become her own person — all of these have receded, leaving me instead with this earnest, green-eyed daughter, the unexpected treasure after the storm.
I say, “How do you think Down syndrome has affected you?”
“It has taken a long time to learn handstands,” she says with a shrug.
I hold back a smile.
“How about in school?” I ask. “Is there anything challenging in school?”
“Well, telling time. But I’ll work hard and I’ll learn it.”
The sun has slipped below the tree line. Homework and the rest of the family beckon. We step inside and join her dad and two younger siblings. But her question lingers — Why is Down syndrome scary?
Is it because the extra genetic material in every cell of her being has caused harm or suffering? Is it because she deviates from a norm of human development, and society cannot accept her? Or is her bewilderment the answer to the question, the indication that fear itself is a puzzling response to this condition that affects hundreds of thousands of adults and children around the globe?
Ethicists, theologians, and medical doctors have all answered some version of those questions over the years. Some see Down syndrome as a biological problem, a birth defect in need of fixing. Others see Down syndrome as a naturally occurring condition with its own possibilities and limitations.
These two perspectives may soon have practical implications: New research on the brains of people with Down syndrome is raising the possibility of treatment for some of its cognitive effects. The question becomes: As a parent, should I pursue treatments for my daughter, or do I embrace her just as she is?
How treatments for Down syndrome would work
Down syndrome occurs at conception as the result of a third copy of the 21st chromosome instead of the typical pair. It affects memory and speech and learning. Most children with Down syndrome have some degree of hearing loss. Most need eyeglasses. Penny wears braces on her ankles and glasses on her button nose. She has tubes in her ears.
We have availed ourselves of all the resources offered through government programs: early intervention during her infant and toddler years, speech therapy, occupational therapy and physical therapy in school now. We believe these medical and therapeutic supports have enhanced the child she is. We don’t believe they have changed her personality, her essence.
And yet when — just a few days after that walk hand in hand — I read about possibilities for drugs that might improve cognition for people with Down syndrome, I bristled. Recent years have seen an increase in research on the neurology of people with Down syndrome, and this particular study demonstrated that the brains of people with Down syndrome — from fetuses to adults — have less myelin, the white substance that coats axons, the spokes of our brains that connect neuron to neuron.
Without myelin, the messages from one part of our brains do not travel smoothly to another. From the prenatal brain through adolescence, myelin in the brains of people with Down syndrome is reduced when compared with the general population. Studies like this one suggest the possibility of specific and targeted interventions to treat some of the cognitive disabilities associated with Down syndrome. Though they haven’t been developed yet, it’s only a matter of time before they will be.
Penny stands about 4 feet high, petite for a child her age. Her light brown hair cups her round cheeks. Her green eyes sparkle, as if points of light radiate from within them. Her body’s soft curves rightly suggest kindness and warmth. She smiles often, and almost as frequently erupts in laughter. She wrote a poem in second grade about how she feels on the playground. She described the swings and the slide and wrote “happy” as her concluding line. Then she paused, crossed that final word out, and wrote “joyful” instead. Joyful.
And perhaps it is because of this self-declared joy that my husband and I both hesitate to consider any intervention in Penny’s brain. The brain seems integrally linked to the self, to the source of who we are, and if there is anything we have learned in the past decade it is that Penny is her own self, her own lovely, endearing, funny, sweet, joyful, familiar self.
How parents are reacting to the possibility of Down syndrome treatments
Parents of children with Down syndrome aren’t the first ones to grapple with the link between cognition and identity. For children with ADHD or anxiety or depression, parents and doctors have to weigh the costs and benefits of pharmacological intervention. For parents of children with autism spectrum disorder, a debate persists over the benefits of celebrating “neurodiversity” and treating the neurological differences between kids with autism and typical kids.
Arthur Caplan, a professor of bioethics at NYU, summed up the dilemma nicely in a phone interview when he said, “Cognition is linked to our sense of personal identity in a way that isn’t true about our freckles. … In Western society, mental states are definitive of who we are.”
Some parents of children with Down syndrome have embraced the possibility of medication for cognition, as evidenced by those who signed their kids up for a recently discontinued Roche clinical trial studying the effects of basmisanil, a selective GABA-A receptor inhibiter, which was intended to improve working memory. A smaller cohort of women with a prenatal diagnosis of Down syndrome are currently taking Prozac as part of a phase one clinical trial in hopes that the medication will increase the number of neurons that develop and lead to increased cognitive functioning after their babies are born.
Christine Hawkins, mother to 7-year-old Olivia, decided to add Prozac to the mix of Olivia’s supplements and therapeutic interventions when she was 6 years old. In Hawkins’s words, “It’s not that I don’t accept my daughter, but she’s an only child. What happens when I die? … I want whoever needs to watch over when I’m not here anymore to need the least support possible.”
Other parents approach the issue with some degree of ambivalence. Ellison Yahner, mother of 4-year-old Felix, says she has not tried any medication to increase her son’s cognition because neither her pediatrician nor the major national Down syndrome organizations have supported or endorsed these steps.
Hallie Levine, mother of Johanna, an 8-year-old with Down syndrome, described her daughter as vivacious and outgoing, and with behavioral challenges because she has trouble expressing herself in words. Levine has declined clinical trials due to concerns about side effects, but she said, “We have maxed out on therapeutic options for [Jojo]. If a drug would increase her cognitive function, and, by extension her expressive language, I would take it.”
George Estreich, father to Laura, a 10th-grader with Down syndrome, wrote to me via email, “The difference between having a good life and a really hard one comes down to systems and goodwill: that is, systems that accommodate (if not always welcome) children with disabilities, and people who genuinely care within those systems. … My short take on a pill to improve cognition: I’m not against it, but I have lots of questions about the assumptions in play and the possible consequences of its implementation.”
These parents represent a spectrum — from those who question the need for medical intervention to improve cognition to those who have pursued clinical trials and off-label uses of medications. They nevertheless share a common refrain of love and hope and delight in their children. The identity of these children as beloved members of a family is not in question.
Is this just another way of discriminating against people with Down syndrome?
In the wider world, however, this same identity is called into question routinely. The high rate of termination of pregnancies with a prenatal diagnosis of Down syndrome and theongoing struggle to ensure doctors present accurate and unbiased informationabout Down syndrome to parents demonstrate some of the systemic cultural prejudices against individuals with Down syndrome.
I often assume that researchers and clinicians who are studying Down syndrome approach it with their own set of prejudicial standards. But when I spoke with researchers and doctors who are treating patients with Down syndrome, a different picture emerged. Dr. Brian Skotko, co-director of the Down Syndrome Program at Mass General Hospital, explained how researchers hope to develop drugs for improving working memory and short-term memory, and even warding off the Alzheimer’s disease that currently affects a large portion of the adult population with Down syndrome.
Michael Harpold, chief scientific officer for LuMind, a research foundation for Down syndrome, told me his advocacy for drugs that will improve cognition for people with Down syndrome is inspired by the teenagers and adults who have asked for them: “Their hopes and dreams are the same as my own kids’. This is a social justice issue.”
When I emailed with Jenna Strauss, a 39-year-old woman with Down syndrome, and asked if she would be interested in taking medication to improve cognition, she said yes. Strauss lives on her own in Margate, Florida, and she says this type of medication, “could help with my memory and other cognitive functions.”
Harpold wrote in a follow-up email that he hoped drugs might eventually “improve memory systems which at a practical level would lead to more associations — greater connections in knowledge; better attention and task juggling, better school progress, faster at processing and initiating activities; and, more flexibility, greater ability and willingness to try new strategies.”
I also spoke with Dr. Nancy Peirson, a naturopathic physician with a son with mosaic Down syndrome. Peirson said she would rather approach the underlying root causes of problems like a lack of myelin in the brain of children and adults with Down syndrome than prescribe medication to treat those problems.
Peirson mentioned thyroid hormone, iron, and choline as potential deficiencies in a person with Down syndrome that could be addressed and increase myelination instead of looking for pharmaceutical solutions. She echoed other parents and doctors when she said, “We aren’t trying to fix, change, or cure our children. We love them for who they are. We just want them healthy.” In all cases, these doctors and researchers were looking for ways to increase independence, communication skills, and safety. They were not looking to change the individuals they serve.
When I first heard about these studies related to cognition, I thought they played into the social bias that devalues individuals with Down syndrome. Once I understood the science better, I began to see that researchers hope to achieve incremental gains that could enhance individuals with Down syndrome in a manner comparable to wearing glasses or hearing aids. I’ve changed my mind about the value of this research, but I haven’t changed my mind in any way about the value of my daughter — or any person with cognitive disabilities — as she is.
No matter what, society should embrace people with intellectual disabilities
The starting point, for parents and for society at large, should be acceptance for people with intellectual disabilities. As Lulu Miller reported on a recent episode of Invisibilia, for a variety of human conditions — in this case, mental illness — acceptance forms the foundation for a happy and peaceful life. From that common place we can have meaningful conversations, do important research, and offer medication for cognitive improvement as a way of helping people rather than changing them to fit a narrow societal norm.
Learning how to accommodate people with disabilities, which may well include medication for cognition, is a crucial act in expanding our definition of humanity and of recognizing the common good that comes from policies and practices of love and inclusion rather than conformity and exclusion.
I used to worry that I would compare Penny to myself and find her lacking. Now I either find our points of commonality — her love of reading, her hesitance in large groups, her difficulty expressing negative emotions — or I see the ways I want to learn from her.
I see her contented hard work — trying for two years to muster the courage and strength to do the monkey bars, practicing one song on the piano 10 times over without banging the keys from frustration (as I used to do), practicing math problems day in and day out without protest. I see her willingness to forgive. I see the pleasure she receives from a cheeseburger, or a moment side by side on the couch, or an invitation to dance with her dad. I no longer want Penny to be like me. In so many ways, I want to be like her.
My mind returns to the familiar prospect of walking hand in hand with my daughter to the bus stop, to church, to ballet class, beside the river that runs through our small town. I envision the crease in Penny’s palm that marks her as different from me. I scroll through her challenges and all the people and activities she loves. I come back to that initial fog of fear that once threatened to blind me, and I think of the light that burned the fear away.