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So what exactly is Down syndrome?

Lisa Belkin wrote about Down syndrome yesterday on her blog for the New York Times: "Should Down Syndrome Be Cured?" I submitted this comment:The language used from the title of this post through many of the comments implies that Down syndrome is a disease, a sickness that is currently incurable. But the reality is that Down syndrome is the presence of an extra chromosome in every cell of a human body. The presence of that chromosome can cause any number of medical conditions, but the extra chromosome in and of itself is not a disease. It is a genetic difference. So talk about curing Down syndrome is a misnomer that underscores how ignorant we are as a culture when it comes to people with Down syndrome. I write as someone who was, not too long ago, quite ignorant. But I, like Britt and Kerri, was given an early gift through the birth of my daughter four years ago. And I, like Britt and Kerri, discovered a few hours after she was born that she has Down syndrome. When our daughter was a few months old, I wrote in my journal, It is hard to believe that she won't be able to solve problems or read literature. And yet it is easy to believe that she will rush to a friend, or even a stranger, in need. Easy to believe she will bring joy and light and life. Can she live a full life without ever solving a quadratic equation? Without reading Dostoyevsky? I'm pretty sure she can. Can I live a full life without learning to cherish and welcome those in this world who are different from me? I'm pretty sure I can't. The odd thing is that our daughter, who turned 4 two weeks ago, has a "normal" IQ. Not "normal-for-kids-with-Down-syndrome." Just normal. She speaks in full sentences. She can count to 30. She can write her name. She can tell me her feelings. She stands in front of the mirror and dances and makes up songs. For all the research that is being done about changing cognition through medical intervention, some attention should be paid to the cognitive potential of children with Down syndrome as they are. One learning expert suggests that children with Down syndrome have been socially conditioned to do so. Studies have shown that "babies with Down syndrome seem to learn more efficiently than children with Down syndrome" (From Teaching Reading to Children with Down Syndrome by Patricia Logan Oelwein). Low muscle tone as babies leads to low success at the tasks babies try to accomplish, which leads to lower parental/ therapist/ other expectations, which leads to less trying. So would I take away her extra chromosome? Not for a second. It is intrinsic to who she is as a human being. But there are things that, due to Down syndrome, separate her from experiencing the fullness of life. So she has glasses, for instance, and just had surgery to put tubes in her ears. She has braces around her ankles to give her more support as she walks. Our daughter doesn't have any apparent learning disabilities at the moment. If that changes, would I want medical intervention? I'm not sure. I'll need some way of answering the question of whether those learning disabilities prevent her from living a full life.

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