Down Syndrome, Science, and Mystery

Mystery.  The unknown.  The misunderstood.  Science promises to unravel many mysteries.  What mysteries about my child with Down syndrome might science unravel?

Becca from The Bates Motel poses this topic in this blog hop (go hop around and read, just make sure you come back, you dig?).  While I must say I don’t think research will unravel any mystery about my individual child, I do want more research.  I want it badly.  Why?  Researching Down syndrome could shine new light on the entirety of our genetic existence.

Life’s mystery is very different from my child’s mystery.

Mystery #1

Mystery #1

I see how our lack of firm scientific understanding of Trisomy 21 lends an air of mystery to anyone with the diagnosis.  I fell into a deep obsessive researching period in trying to understand that mystery just a little bit better.  Just ask my husband.  It wasn’t pretty.

Still, I’m finding my thoughts shifting as time goes on and I am wary of attributing any mystery to my child simply by virtue of his Down syndrome.  I’ve heard too many stories of children being undertreated, overtreated, or simply dismissed by doctors due to being wholly defined by Down syndrome. That scares me. I don’t want anyone thinking my child is any more unknowable than the next.

If LP is mysterious, all of my children are mysterious.  I don’t know what genetic code lays in the cells of my other children and I don’t know how that code will inform their lives.  The way that a third copy of the 21st chromosome affects a person seems no different than any piece of DNA affects any person.  Wonderfully variable, utterly unpredictable, and highly individual.

More importantly, having 47 chromosomes is natural.  

I often refer to “the extra chromosome” as a cute/cheeky/casual way of talking about Down syndrome.  I’m really starting to question this practice.  Could calling it an extra chromosome imply that it is extraordinary to have it?  As in out of the ordinary.  As in not normal.  As in, maybe others will say… not natural?

Is it fair for me to inadvertently paint my child as somehow outside of the “normal” genetic experience, but continue to ask the world to see him as an equal?  Maybe it isn’t extra, but simply what is.

Mystery #2

Mystery #2

The thing is, all genetic existence is natural and normal.  It is easy to create a dichotomy between those who have genetic “abnormalities” and those who don’t.  Yet, even with my puny understanding of human genetics, the reality looks much more complex than “normal” versus “abnormal”.  There are people walking around with mosaic Down syndrome (when only some cells in your body have 47 chromosomes), completely unaware. There are many genetic “abnormalities” that are never detected, either because a person is simply a carrier, or because there is no obvious sign.  Then there is chimerism, when two genetically distinct cell lines coexist in one person.  Yeah, genetic marble rye.  Mothers carry their children’s fetal cells long after a pregnancy is over.  Heck, I even found this, suggesting we all have some aneuploidy (cells having fewer or more than 46 chromosomes) of chromosome 21 in our brains.  Basically, everyone’s brain may have a certain percentage of cells with Trisomy 21, and it is normal.  Trippy, huh?

Chromosomes do their juju dance, stuff gets left off, stuff gets stuck here, over there, duplicated and turned around.  That is part of what gives us genetic diversity.  Down syndrome is a simply product of how nature works.  Down syndrome may be in the minority, but it is natural.

I want Trisomy 21 research to confirm the vast, complex human experience by shining a light both sides of the genetic coin.

I do want research dollars spent on understanding why Trisomy 21 correlates to higher rates of certain medical diseases and illnesses, but I also want to know about the other side of that coin.  I want to know why there are risks and benefits.

Benefits?  Yes.  Higher chance of leukemia, but better prognosis after treatment.  Higher chance of  infantile seizures, but better response to treatment.  Lower incidences of certain solid tumor cancers.  The same mechanism that protects against some cancer is thought to make blindness due to diabetes less likely.  Fewer cavities.  Lower likelihood of cerebral palsy.  Less hardening of the arteries and less high blood pressure, regardless of body type.

This more accurate picture of genetic diversity and risk has some astonishing implications for me.  I am not trying to minimize the very scary risks like leukemia or Alzheimer’s disease.  The health risk column does seem to be bigger than the health benefit column.  However, what might it mean that living with more than 46 chromosomes confers some advantage as well as risk?

If we keep insisting that it is better to fall into the middle of the genetic bell curve, then we are closing our eyes to the complex variability of human genetics.  Do we want to monocrop the human genome?  Trisomy 21 is highly compatible with life.  Doesn’t it stand to reason that we might have something to learn from Trisomy 21 about the greater human condition? I can’t help but wonder if by studying Trisomy 21, science might learn more about the very nature of human plasticity, adaptability, strength.

It is not the middle, the average, the median, that makes us amazing.  It is our variation in its entirety that makes human beings so beautiful and mysterious.  I want to know more about that mystery.

Mystery #3

Mystery #3

25 Comments on “Down Syndrome, Science, and Mystery”

  1. Galit says:

    Wow — insightful and provocative as usual! And of course, cute tater pics.

  2. Jenny says:

    Excellent post! Loved the line, “Maybe it isn’t extra, but simply what is”

  3. bateminx says:

    A very different view on this topic! Thank you for sharing and for joining the hop! There’s just so much to be discovered about our kids, and while I hope that the bulk of initial research dollars and efforts go to finding more effective treatments ts for the negative medical mysteries about them (first and foremost for me being a treatment for early-onset Alzheimer’s which will hopefully lead to an Alzheimer’s cure for everyone), there are so many *positive* sides to learn about. For example, why are people with D’s likely to be so much more empathic, compassionate, non-judgemental and happy with their lives than the general population? Can this be used somehow to treat depression or social disorders in the general population somehow? Not to say our kids should be used as guinea pigs, but if awareness can be raised, value seen by everyone, and positive outcomes derives all-around, then I’m all for it. Sorry for rambling and for any typos – using my phone and can’t see what I’ve already written… :-)

    • jisun says:

      No, not rambling at all! Yes, I feel like the focus on the “problems” might inadvertently underscore the view that Ds is an illness or a disease, instead of just a genetic existence. But, I’m wary to attribute any behavioral traits like empathy or compassion to genetics, because those are such learned behaviors, and it gets so close to the “happy stereotype”. I do think, however, that it would be a really fascinating social psychology study to look at if there are trends in parenting and family dynamics and Down syndrome that maybe contribute to the sense of empathy/compassion. I do think that there could be some generalizations about how families choose to see the diagnosis, how they choose to raise their kids to see it, that would be very interesting.

      Well, now I’m rambling. Your guinea pig comment made me chuckle. :)

      • Becca says:

        Ah, not stereotypes at all! I’m not saying they’re happy all the time, because I know that is definitely not the case. But more compassionate as a whole than others? Yes. And the info about how 95% of people with Ds being happy with their lives? That was a resulting find of a recent research study. I dislike stereotypes, and tend to be very cautious when treading around ideas that could be construed as such. Btw, as I’m sure you’ll find out one day, “stubborn” is also *not* a stereotype… LOL

        • jisun says:

          While I love Skotko’s research and quote it all the time, I do think there is a big difference between observing a self-reported perception of happiness with one’s life and extrapolating that having different chromosomes results in an inherent tendency towards any emotion or learned behavior. I have met young kids, older kids, and adults, and I’m not sure that I could make an assertion about some being more compassionate (and how one defines more compassionate can differ, there’s that). Human beings are so complicated, and a person’s genetics are only one small piece.

          I hear that groups of people can have tendencies, and I think we can find ways of talking about this, but I think it is important to be careful about where we attribute those tendencies. Good discussion for sure.

    • Lyn says:

      I don’t see that a generalisation on the state of mind of people with Down Syndrome is accurate. I think you will find that depression is a reality for many adults with Down Syndrome. I must say my 13 year old can be as judgemental as anyone else.

      • Becca says:

        Oh, good lord, this is NOT where I was going, Lyn. I’m not making a generalization about the state of mind of people with Down syndrome. Give it a rest, okay?

      • jisun says:

        You know, I think this underscores the difficulty of discussing a perceived commonality without giving the impression of making broader generalizations. Thank you for your comment, Lyn. I daresay that most 13 year olds are quite judgmental! ;)

        Becca, I have had more interesting conversations (and debates) coming from this post than I’ve had in a while. I think the blog hop worked. :)

  4. I am so glad I met you. You are one of my Mom Mentors. xoxo

  5. Down Wit Dat says:

    I love the fetal cells story, have since I saw it the first time. It’s wonderful in a way, to know that my children are very much a part of me.
    Lovely as always.

  6. Leigh Ann Arnold says:

    Love this as usual. You are so right it truly is what is and not a “wrong” thing. What are the genetics that make any of us who we are. We are all valuable and none of us fit in a box. We have 4 ” mysteries” over here and man are they all different! I love that about them! I had to chuckle when I went to the link on cavities, our first beautiful mystery, who happens to be going through highschool with flying colors is missing 5 permanent teeth ( yes the cost of this may kill us :) ) and no one even realizes this about her! We all are just so unique. Love this post!

    • jisun says:

      Oh, no about the teeth! I cost my parents a fortune in dental work as a child and it didn’t even work because they gave up. I love them for trying. ;)

      Thank you for the kind words!

  7. Troy says:

    You put words on my feelings lately. Beautifully said.

  8. downssideup says:

    Great post. Have you met DSRF, your thoughts seemed to be so in tune.
    H x

  9. Extranjera says:

    This is something that I struggle with – talking about research when it comes to Trisomy 21. I find that also in these discussions it is the rhetoric and general thinking behind the research that needs to be constantly checked. While there is a medical layer to this, there is also something greater that affects perceptions of people with T21 in society far beyond any ‘medical’ applications of research.
    Tough one.
    Great post!

  10. Lisa says:

    I struggle a lot, too, when it comes to discussions about research for Down syndrome. I already feel like so many of the interventions we tend to lean towards are geared at “fixing” or “improving” our children with Ds. Yes, I’d like the medical/health issues associated with Ds addressed with continuing research, but when we get into treatments for cognition, count me out.

    As for the stereotypes, generalizations, whatever you want to call them . . . so far with Finn, I’ve found them to be bullshit. More compassionate, more empathetic than the average Joe? Absolutely not. Besides, “compassionate” and “empathetic” are so subjective – how can anyone even quantify things like that? Is Finn stubborn? Yes. But so are all of my other kids. Having so many kids is like a science experiment in action – my own little microcosm of humanity. And I can tell you that at least presently, Finn’s not overly happy. He’s mostly frustrated, I think, as he seems to be becoming more aware of his own limitations, and the limitations I inflict on him.

    Interesting discussion.

    • jisun says:

      “He’s mostly frustrated, I think, as he seems to be becoming more aware of his own limitations, and the limitations I inflict on him.”

      Darn parents and growing up. See, I wonder how many things get attributed to Ds, when they might just be part of growing up in general with a disability. I’ll have to remember to come back to this post in a few years and see what I say. :)

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