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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 parenttoparent@gazettenet.com.

"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." Shouldn't this be obvious? When people talk about those with Down's, it's always about what *they think - what they've learned from them, how they wouldn't care if their child wasn't perfect. I always think yeah, that's great - but it's not about you, is it? It's about what life is like for those with Down's; their wants and needs, not yours. They don't exist for the pleasure or enlightenment of others. "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." With very few exceptions, people with Down's will always be dependent on others to some degree; the quality of their lives will depend greatly on those who surround them. Parents are often in denial about this - we'd like to believe we'll always be around to guide and protect are children but that's probably not going to happen. Why would anyone choose to have someone they love be so vulnerable if they could change it? My daughter with Down's is in her 40's and this is a reality I am facing and trying to prepare for.

Mary, we have a lot in common; my eleven year old daughter is named Christina and she has Down syndrome and possibly autism as well. We are still seeking our third psychological evaluation to determine if the loss of speech and cognitive abilities she experienced in elementary school was due to autism. No one seems to understand why she can't speak anymore and has never learned to read more than a few words in seven years of school. I agree that she would not choose to have Down syndrome if she could, she is isolated from the family not by our choice, but her lack of language makes some activities impossible for her to participate in, and we feel terribly guilty. Then she gets frustrated and throws something (I don't blame her) and goes off again to watch a movie alone. My heart breaks too. She has no friends, despite our best efforts, and though she has made us better people, teaching us the same lessons you mentioned; clarifying priorities, learning to look at the soul not the exterior, we see her despondent at times as she struggles against obstacles she can't understand. That's why I hate Down syndrome but love Christina.

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