On the Possibility of Curing Down Syndrome by Lisa Morguess

This post is the first of three parents’ perspectives, as a part of Down Syndrome Awareness Month. 

The recent breakthrough involving scientists figuring out how to silence or shut down the extra copy of the twenty-first chromosome that results in trisomy-21, or Down syndrome, has led to people expressing strong feelings on both sides of the question: should we try to cure Down syndrome?

As a parent of a child with Down syndrome, I have my own feelings about both potential “gene therapy” and drug therapies that may soon be on the market to possibly improve cognitive function of people with Down syndrome.  Would I do it for my child?

Instead of answering that question, I think it’s important to examine what is at the root of that question: would I change my child if I could?

I believe that we all have intrinsic value merely by virtue of being members of the human family, without qualification. We are all connected, and we all have strengths and limitations, gifts and frailties. And if we live long enough, the vast majority of us will become disabled at some point, through accident, illness, or aging.

What bothers me about the question of whether I would change the fact that my son has Down syndrome that it’s just another example of how we value people based on arbitrary standards, like intelligence and achievement and performance. Those who are smart, who make a lot of money, who contribute to society in material ways – those are the people we as a society hold in high regard. People who have lower intelligence, less than optimal abilities, who are dependent, are liabilities, and they are expendable. And since we consider ourselves a civilized society, we try to improve and fix them. It’s all cloaked in “wanting what’s best” for our kids. Wouldn’t you like to make your child’s life better? Wouldn’t you like to make your child’s life easier? Wouldn’t you like to remove or lessen some of the struggles and hurdles they will face? Wouldn’t any good, loving parent want those things for their child?

All of this assumes that “treating” Down syndrome – by way of gene therapy, drug therapy, physical therapy, speech therapy, or whatnot – actually does improve – well, to put it bluntly, people with Down syndrome. Whether it actually does remains an open question that really cannot be answered since it is impossible to take a child and subject him or her to the various therapies available and compare the “results” to the very same child not subjected to those therapies. There is such a range of manifestation of Down syndrome, and nobody who has their child in various therapies can truly claim that their child’s abilities are improved by therapy because they’ve not observed their child at the same age and stage without therapy; by the same token, those parents whose children undergo little or no interventive therapy can’t say for sure if their child might be different with therapy since they haven’t observed their child at the same age and stage with therapy. This has always fascinated and frustrated me – how many parents insist that therapy has made a huge difference for their child. How can they really know? What is true is that we parents of children with disabilities are very much subjected to judgment and societal expectations that we will take measures to improve our children, because it’s irresponsible not to do so – not to take advantage of all the technological advances that have been made.

If what we are talking about it quality of life, then we have to ask ourselves: do smart and able equal happy and successful?  Is an easier life a better life?  Is a life with fewer struggles a better life? These are philosophical questions to which there are no simple answers.

One of the things I heard most often in the weeks and months after Finn was born was “Didn’t you do the testing?” People seemed genuinely surprised that in this day and age when it’s common practice to find out everything you possibly can about your fetus before it’s born, that I had chosen not to. People seemed especially surprised given the fact that I was 40 when I got pregnant with Finn – didn’t I realize my risk factors? And the fact that I chose home birth – extremely low tech and low intervention by its very nature – many people for some reason seemed to think that where Finn was born had anything to do with the condition he was born with – as if there might have been a different outcome had he been born in a hospital. When I found myself pregnant again at the age of 44, I incited more surprise, and perhaps even disdain, when I again declined prenatal testing and planned for another home birth. It was reckless, irresponsible not to take advantage of everything modern technology has to offer.

Only, I didn’t see it that way. It’s not that I was choosing the bliss of ignorance, necessarily, but how I chose to approach my pregnancy with Scarlett (Finn’s younger sister) had very much to do with my feelings about Finn – about his birth, his diagnosis and how that was delivered to us, and his very personhood. Was I truly okay with it? I did not feel that knowing Scarlett’s chromosomal makeup before she was born would benefit her or me – I was only concerned that she was physically healthy enough to be born safely at home. My midwife supported my choice not to have any prenatal screenings beyond a 20-week ultrasound, but I think even she worried about the odds of my baby having a genetic anomaly based on my advanced age and the fact that I’d already had a baby with Down syndrome. After Scarlett slipped out into the world, and I pulled her up and held her in my arms, I remember my midwife taking one of Scarlett’s tiny hands and spreading her fingers out, examining her palm and showing it to me. “See?” she said, showing me the typical double crease, in contrast to Finn’s telltale single crease that indicated Down syndrome.

“I don’t care, I don’t care,” I said. “I just care that I have my baby here.” I didn’t want those first few precious moments to be spent worrying or feeling relieved about her chromosomal makeup. I wanted to just know her as my baby – not my healthy baby, or my defective baby – just my baby.  Exactly how my first moments and hours with Finn were spent.

Back to the question of whether I would undertake gene therapy or drug therapy for Finn.  In all honesty, I think it’s still going to be quite a while before either of those therapies are so readily available to the general public that I will even be faced with a decision about that. In the meantime, I want to spend my time and energy as Finn’s mom advocating not for him to change in order to fit into the world better, but for the world to be more accepting and accommodating of Finn and of diversity. I want to instill in Finn a strong sense of himself – a belief in himself just as he is. And if and when the time comes for a decision to be made about gene therapy or drug therapy, I would like to think that Finn himself would be very much a part of that decision process.

Lisa is the mom to seven kids, ranging in age from teen to toddler. She lives in Southern California and writes about parenting, Down syndrome, and life at Life As I Know It (http://lisamorguess.com).

About Amy Julia Becker

Amy Julia Becker writes and speaks about family, faith, disability, and culture. A graduate of Princeton University and Princeton Theological Seminary, she is the author of Penelope Ayers: A Memoir, A Good and Perfect Gift (Bethany House), and Why I Am Both Spiritual and Religious (Patheos Press).

Comments

  1. There is a difference between improving “people” and improving their functioning. As parents, we seek to improve our children as people when we guide them morally. We should do this equally with our children regardless of disability. Therapies, treatments, and cures just seek to improve their functioning. As long as these are not imposed on anyone, increasing people’s options seems to me to be a good thing, like many other advances in medical care. For example, my glasses don’t improve me as a person, they just improve my eyesight. http://matir-asurim.blogspot.com/2013/09/what-is-disability.html

    • I appreciate your point, and I’m curious–if improving your eyesight meant intervention in utero to “silence” a part of your genetic code, would you want that? The advantage (and disadvantage too–hence lasik surgery!) to glasses is that you can take them on and off. The research proposal for mitigating the effects of DS, if I understand it correctly, would happen early on (before a sense of the child’s quality of life could be determined) and would be permanent.

      • There are multiple research proposals out there. From what I understand, the prenatal treatment proposal is just one avenue of current research, and is distinct the “silencing” treatments, which are more in line with stem cell therapies. I.e. silencing the extra copy in stem cells, then using them to generate new tissues, e.g. a larger cerebellum.

        If vision research was at the level of DS research, you bet I would be very cautious! Even now, I wouldn’t go for Lasik unless I had a really good reason, which I don’t. But there are those who do, and for them, Lasik is awesome! We don’t really know how the research will turn out in the next decade, and I really don’t want to stifle it. I think it is wonderful that researchers are exploring things besides earlier and earlier detection for the purpose of termination. I also think that some people who might otherwise choose an abortion might be willing to try experimental techniques instead. Ten years down the road, we would have a better idea of the impact on these children’s lives.

        Bottom line, I like that researchers are looking for ways to improve the lives of people with T21 instead of just terminating them. If nothing else, that is progress.

  2. BTW your son is gorgeous! :-)

  3. Lisa Morguess says:

    The problem I have is that it encourages the view that people with Ds are defective. It seems to promote the belief that people are better the better they can perform, the more they can achieve. I don’t see this as progress at all – just a different twist on the problematic way in which we value people. I’m all for research that addresses health and medical issues associated with Ds, but silencing the extra chromosome altogether? No. I don’t see that as progress.

    • I don’t think that the availability of Lasik (or glasses, for that matter) means that society believes that people are better the better they can see. It just means that people who wish to see better, can. I respect and value people with T21 enough to want them to have more options, too. Many parents are selective about which therapies to offer their children, based on individual circumstances. Those people who would benefit from the new treatments should be able to do so.

      The chromosome silencing would not “silence the extra chromosome altogether”, only in targeted ways to address particular issues. But even if it did, I suspect the people who would use it in that way would otherwise abort, which would definitely silence the extra chromosome altogether…. is that better? If you manage to outlaw abortion, you would see more children given up and institutionalized, like in Eastern Europe. Is that better?

      • Lisa Morguess says:

        I think it’s a lot of speculation to assume that those people would otherwise have abortions. (And for the record, I don’t think outlawing abortion is the answer, either.)

        In any case, on some level I feel like this whole discussion that’s taking place in the Ds community about this new research and the possibility of “silencing” the extra chromosome is pointless, or at least very premature. It will be years and years and years – if ever! – before such “gene therapy” is actually feasible, and even if/when it ever does get to that point, it will likely be so astronomically expensive that nobody will be able to afford it anyway, and I doubt insurance companies will pay for it.

        So really, it’s merely a hypothetical/philosophical question: Would you change your child if you could? Would you eliminate his or her Down syndrome if you could? It’s silly to treat it as a practical question, as if the treatment is available and people can actually get in line for it.

        • I agree! I think that as more treatments are introduced, people will see how it affects real children, and then those kinds of questions can be answered. To what extent would the underlying personality be affected with different treatments? We actually see that today with various medications for depression and other mental disorders. Some medications cause some people more trouble than they are worth. In other cases they are great. It is hard to tell in advance.

  4. Vicki Vila says:

    I am so happy that this discussion is taking place in such a prominent forum and I’m so grateful to Lisa for expressing her views. For me, there are so many aspects to “cognitive research” and I think, well, I hope, there is much more to it than just a focus on “improving” children with Ds. I am not liking the sound of “silencing” the 21st chromosome, but other areas of cognitive research intrigue me. My main concerns do not have anything to do with the kind of intelligence that produces academic or measurable achievement. Rather, I am deeply concerned about my son’s memory.

    Some of my most precious things in life are not things, but memories. Some of my most treasured experiences are deep discussions about things I have read or seen in my travels. I want my son to be able to experience these things — all through his life. I want him to be able to remember his best friend’s birthday and buy that friend a present without having to be reminded by another person. While I cannot predict the future, I can see right now that our son struggles to remember things and to figure out how to tell us stories about his day, and it frustrates him, it makes him sad. If there were therapies that might help him conquer some of these challenges, I would be open to it. Intelligence is not just about achievement. It is a also about personal happiness.

    • Vicki, one of the things I write about in A Good and Perfect Gift is starting to realize that “Down syndrome” as a whole is not bad or evil, but there are aspects of it that cause separation–separation from self, from society–and I think those things are bad, or at least they are things I want to help Penny overcome. But there are other things that used to seem bad to me (like low IQ) that I eventually realized had more to do with me than with Penny. As I wrote in my journal after she was born, “Can she live a full life without being able to solve 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 than me? I’m pretty sure I can’t.”

  5. Olivia Sanchez says:

    Thanks for the research but after having a child with Down Syndrome, I wouldn’t opt to have changed ANYTHING! He is a gift and I rather have him with Down Syndrome then having him fit into what society thinks is the norm. He’s happy and knows that he has Down Syndrome and not ashamed. Long as he’s happy and learning, and loving life why should I try and change that.


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