Down Syndrome, Science, and MysteryPosted: July 8, 2013
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.
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.
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.