I wouldn’t cure Down syndrome because then my sister would be different

J&J 1217Reactions to my post on if there was “cure” for Down syndrome, would you do it have come from near and far. Here’s a summary, concluding with an honest, heartfelt response from very near to me. 

From “never” to “of course”

I had written on new developments using a gene-editing technology called CRISPR that eliminated the extra 21st chromosome that is the cause of Down syndrome in cells taken from Down syndrome mouse models. While the actual application to live humans may never come about, theoretically, the development suggested that someday parents and individuals with Down syndrome would have an option of simply taking an injection to eliminate the extra 21st Chromosome. I asked what choice people would make.

Being that this blog is on the world wide web, I received responses from across my home country of the United States as well as around the globe. They spanned the spectrum, from “Never” to “Of course we would do it,” and had as many different justifications. To summarize, here’s a representational range:

  • Some said they would never seek to eliminate their child having Down syndrome. Many holding this position did so out of their spirituality: that that is how God made their child and therefore intended their child to be.
  • Others took a middle-ground position where they wouldn’t want to fundamentally alter their children’s genetic make-up, but they would readily sign up for treatments to alleviate the delays and physical ailments their children have that are associated with Down syndrome, e.g. curing their child’s heart condition or improving their child’s ability to communicate.
  •  And, still others said not just “of course,” but then suggested those who did not treat their children were in turn harming them, by allowing them to remain with a disability.

These positions, and their justifications, equally play out in the current application of prenatal testing. While it is not a “cure,” prenatal testing does allow parents to know earlier than ever and decide whether to continue or to terminate their pregnancy. Those in the first group above often choose to continue their pregnancy for the same reason; those in the second have more of a struggle over their decision, wondering to what extent the extra chromosome will have a disabling impact on their child; and, for those in the final group, often those holding that view will similarly condemn those who continue their pregnancy knowing their child has Down syndrome for imposing harm on their child.

Of all the responses, however, the one that was most surprising was the one that come from closest to home to me.

Yet, a different response

My son, James, often sees me typing away at my computer, working, writing one of these blog post, or (as likely as not) scrolling through Facebook and websites of interest. After I posted asking the question about the CRISPR injection, we went outside to rake leaves and talked about what I had been writing about. I explained that there was this new technology that maybe, someday, a shot could be given that would make the extra 21st chromosome go away (James, though only 11, is well aware of the genetic basis for Down syndrome).

We continued raking, but after a few more swipes of the rake, James had a scrunched up look on his face. Clearly, he was thinking about what I had said. He asked, “Daddy, would that mean Juliet’s face would look different if she had the shot?” I said there’s no way of knowing right now what effect it would have, but, it very well could change her facial appearance since that is associated with having Down syndrome.

James stopped raking and said, “Well, Daddy, I wouldn’t want Juliet to have the shot.”

I asked why? He replied, “Because then she would be different than how she is now. And, I don’t want her to be different.”

A different “different”

I hesitate to share this moment with James. I am not relaying it a la President Carter memorably retelling what his young daughter Amy thought about nuclear weapons. Nor am I wanting some Precious Moments, “out-of-the-mouths-of-babes” reaction.

Rather, I’m sharing it because I think it is a relevant perspective that very few have who offer their opinions about the relative value of a life with Down syndrome.

Those opinions I’m referring to come from academics, bioethicists, economists, obstetricians, geneticists, and laboratory CEOs. These learned individuals make arguments for why Down syndrome is a burden, to be avoided, to be prevented. How the “moral thing” following a positive prenatal test would be to abort. And on and on. Readers of this blog are well familiar with these statements.

Rarely, however, do any of these individuals, who look upon a fellow human being and cast judgments on them, have an actual relationship with someone with Down syndrome.

James, on the other hand, has possibly the most pure experience of knowing a person with Down syndrome.

Unlike even Juliet’s mother and I, James has never known a world without a loved one with Down syndrome. Both Juliet’s mom and I were past our third decade of life before Juliet was born and prior to that, our experience with someone with Down syndrome was like most people: incredibly limited and overlaid with the largely prejudicial view society holds of those with disabilities.

James, however, being the younger brother, entered this world always having someone who he loved who also happened to have Down syndrome. Juliet has only and always been how she is in James’ experience in this world.

No doubt this explains James’s different use of the word “different” in regards to Juliet. For almost all of us, it is those with Down syndrome who look “different” and who we consider “different” in some way from us. But not so, for James. To change how Juliet looks, to change her speech, her mental abilities, her physical coordination, to James, that is what would be “different.”

No wonder, then, that if given the option to make his sister Juliet different than who she is, James is against it.

Comments

  1. Ann K Cwalina says:

    How accurate is a high risk for Down result when it is done in light of a hard marker such as complete AV canal defect?

    • If the result is from a cell free DNA screen AKA NIPT like MaterniT21, you can use this online PPV calculator. I am not aware of any published calculations based on ultrasound markers combined with screen results.

  2. Beautiful!

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