Explaining Down Syndrome, To My Daughter, And Myself

When Penny was first born, Down syndrome meant fear and sadness and worry. Now, it's just two words used to describe a biological reality that could never adequately define her as a person.
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This post is part of Parentlode. Read Lisa Belkin's introduction here.

A few months back, I mentioned to our daughter Penny that she would be meeting another little boy who had Down syndrome, just like her. She didn't say anything in response, but later on that day, when Penny was at school and William was getting ready for a nap, he said, "Mom, what down syn mean?"

"Down syndrome, sweetie. Not down syn."

"I know drum," he replied. "What down syn mean?"

I nodded slowly, realizing that he was envisioning making music, and grateful that he didn't have a concept of "sin" on hand. So I said, "Well, it's all one word, and it doesn't have anything to do with an instrument." I searched a mental map for words to explain a chromosomal anomaly to a two-year old. I began, "It means Penny has an extra part in her body," but I realized that sounded as though she might grow a third arm. Then I said, "It's something that makes Penny special."
He stuck out his lower lip. "I want to be special."

I hugged him tight.

I haven't used that explanation since. But I've thought a lot about William's question. And I've realized that as much as I understand what Down syndrome is, biologically, I don't know what it means in any broader sense. I know Down syndrome is the presence of an extra chromosome 21 in every cell of Penny's body. I know it can cause heart defects and learning delays and hearing loss and vision problems. I know people within our culture tend to glorify or vilify it with stereotypes ranging from pronouncements about how people with Down syndrome are all sweetness and light to those that imply people with Down syndrome shouldn't exist.

On Monday of this past week, Sequenom, a biotechnology company in San Diego, released a new prenatal test designed to detect Down syndrome in the tenth week of pregnancy. In contrast to other screening tests, this one is 98% effective at identifying Trisomy 21. And in contrast to chorionic villa sampling and amniocentesis, this test is non-invasive, posing no risk to the health of mother or child. It's hailed as a great advancement in prenatal testing because it is both accurate and non-invasive. But as much as this test might be able to tell parents that their developing baby has an extra chromosome, I'm not convinced that this piece of information tells them much of anything at all.

I've seen Penny's karyotype, the graphic representation of her chromosomal makeup, including those three stubby lines clustered together like three old men squatting side by side. I've visited the doctors--the developmental pediatrician, the gastroenterologist, the cardiologist, the endocrinologist, the otolaryngologist, the ophthalmologist, the neurologist, the geneticist, even, for one harrowing season of unnecessary concern, the oncologist. I know that it is probably because of Down syndrome that Penny wears glasses, although three generations of typically developing women in my family have worn glasses at an early age, so maybe it's just heredity. It is probably because of Down syndrome that she is short, and yet I was always the smallest person in my class at school and still only top five feet in heels. I know that there are days when she is the loveliest child I've ever met--when she runs to my side and says, "Hug!", when she asks, "How was your day, Mom?", when she sings to her little sister and brings her toys, when she asks to pray for someone who is sick. But I also know that she is no more sweet or loving than her brother, and that she tests my limits and disobeys and deceives me about her intentions in equal measure too.

George Estreich, author of The Shape of the Eye: Down Syndrome, Family, and the Stories We Inherit explores the etymology of the term Down syndrome, and his explanation gives voice to my own confusion:

A syndrome means, at root, a 'running together.' When you have a child, it all runs together: the heart defect, the eyes, the way her voice sounds, the name of the speech therapist, the worries over the future, the joys of discovery, the sliding sense--slow, quiet, enormous, an avalanche in the skull--that different is not as different as you thought. The genes produce the child, who lives a story, whose story is bound up with yours. So reducing a child to a heap of medical fragments is, for a parent, a complicated and dissonant act. It is a necessary fiction, a story one tells only in order to move on.

Maybe we've moved on.

William hasn't asked again, but if he does, I still won't have a definition to give him. Instead I have a story, a story that includes trips to the doctor and an Individualized Education Plan, a story that includes Penny's first loose tooth and skinned knees and birthday parties, a story that includes William erupting into tears if his big sister forgets to give him a hug before she heads to school.

When Penny was first born, Down syndrome meant fear and sadness and worry. Now, it's just two words used to describe a biological reality that could never adequately define her as a person. Down syndrome doesn't mean much to me these days, but Penny--impulsive, adorable, a big sister who loves to pump on the swing and read books and sing songs--Penny means the world.

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