Parent to Parent by Mary Kiely: Does Down syndrome need a cure?
For those of us who have family members or friends with Down syndrome, the last couple of weeks have brought some quite dramatic news.
As reported in the journal Nature, researchers at the University of Massachusetts Medical School in Worcester recently demonstrated that it is possible — at least with human cells grown in petri dishes — to override or block the extra copy of chromosome 21 that accounts for the cognitive impairment and other challenges in individuals with Down syndrome. Though the work is still in its early stages, the hope is that it will eventually make possible treatments that address the central issue of Down syndrome, rather than simply its symptomatic manifestations.
When I tried to explain the research breakthrough to the youngest of our three children, 12-year-old Michael, his eyes filled with tears. At first I thought he was crying from happiness at the possibility of serious help for Christina, his 17-year-old sister with Down syndrome and autism, or for others like her. But then I realized Michael was worried instead. “Would that mean Christina would no longer be Christina?” he asked me plaintively.
Good question. Christina is a young woman who functions at the level of a much younger child but whose positive personal qualities also endear and have endeared her to many, many people. Why would we want to change her?
I tried to explain to Michael how I felt, conscious that the point of view he was representing is shared by many. I know a number of families who would probably reject an ameliorating treatment or “cure” for their child or young adult with Down syndrome should it become available, mostly because they feel their kids are fine just as they are. Some of these parents would likely say that we should be focusing our energies on getting society to accommodate and to welcome difference, rather than trying to make our loved ones with Down syndrome more like the norm.
There’s a lot of wisdom in that point of view. Certainly in the ecological realm we all have learned a lot in recent years about the value and the importance of biodiversity, and the concomitant perils of a race towards monoculture.
Sometimes we don’t realize just how important one piece of puzzle has been until we have lost it.
In the case of persons with Down syndrome, many people (myself included) have written about the very positive influence that those individuals with an extra chromosome have had on our lives. In our family, for example, Christina has had both a humbling and a clarifying effect. She has taught us to go deeper in our judgments about people, resisting the simple predictions and formulations that society would have us embrace.
She has taught us to steer by our own lights, caring a lot less about the casual opinions of others. She has taught us how foolish are some of the things many of us worry about. She has taught us to find laughter in surprising places.
A difficulty with leaning too much on what people with Down syndrome have done for us, though, is that we may fail to give adequate consideration to what the condition is actually like for them.
Would Christina choose to have Down syndrome? I very much doubt it. Sometimes when our family is gathered around the table joking about one thing or another, Christina will turn to one of us and say sadly, “What are you guys laughing about?” In those moments my heart seizes. I wonder what fences she feels herself to be standing just outside.
And some of the losses Christina doesn’t even know about yet. For example, I haven’t had the heart to tell her that her dream of being a mom is one that will not come to pass, given her current level of capability. Our oldest child, 19-year-old Bridget, says that if she has babies someday, she will share them with Christina. It’s a beautiful impulse, but adult life can get complicated. Time will tell.
When I was pregnant with Christina, my husband and I were told, on the basis of my triple screen prenatal blood testing, that she was at high risk of having Down syndrome. We decided to bring her into the world anyway, feeling we were not wise enough, could not ever be wise enough, to assign a value to her life. I have never regretted that decision. Christina has been and is deeply loved.
But I also have no doubt that I would treat her Down syndrome if I could.
I would free Christina from the burden of the many medical problems and conditions she suffers from, including serious vision impairment, thyroid disease, pancreatic insufficiency, sleep apnea and osteopenia. I would make her that much more capable of protecting herself from harm. I would enable her to participate more fully in a life of her own choosing.
Some have suggested, and it may well be true, that the personal qualities we so admire and treasure in our family members, friends, classmates and coworkers with Down syndrome may turn out to be inseparable from the cognitive impairment and other mental, physical and emotional challenges that make the lives of many of them so much more challenging than our own. In treating the core of Down syndrome, should that indeed prove possible, we may in fact end up saying good-bye to the kind of personal sweetness that makes my son weep.
That would be a loss for the world, no question. But it might also be a net gain for my daughter, and others like her.
I hope that in Christina’s lifetime, or in the generation just behind her, we will all get to find out.
Mary Cleary Kiely’s column appears on the first Tuesday of the month. She may be reached at firstname.lastname@example.org.