The Problem With Down Syndrome: Part 2

I just want a healthy baby.  I think every single prospective parent must utter these words at some point, but it is worth questioning.

One "common sense", yet false, assumption is that Down syndrome itself is a state of poor health.  Then, it goes without saying that the ideal state of affairs would be to get rid of Down syndrome.  This is the logic I hear time and time again in news articles, comments, off hand remarks from strangers.

It makes sense, right?  Down syndrome comes from the presence of an extra chromosome.  That extra chromosome causes the body to malfunction, right?  Therefore, Down syndrome IS poor health.  So therefore, our goal should be to make sure no one is born with Down syndrome.  Wait.  Can we slow down?

Discussing medical risk solely in terms of Down syndrome reduces a complex individual into a one-dimensional picture painted with a single color called "extra chromosome".  Most parents who get a Down syndrome diagnosis find themselves sinking into a black hole of terrifying statistics.  I don't wish to minimize these, but it isn't the whole picture.

The third chromosome isn't an unsightly ink blotch of risk on an otherwise pristine piece of paper.  We all carry risk by virtue of living.   We all carry higher risks by belonging to certain definable groups.   Sickle cell anemia.  Tay Sachs.  Cystic Fibrosis.  Thalassemia.  Familial Mediterranean fever.  It took me ten minutes of an internet search to learn about this handful of medical conditions, all of which are more prevalent in certain genetically related groups.  I'd guess that there are many genetic bases for disease and illness, science just hasn't found the common thread yet.

Also, why have I never read a single media story mentioning that living with Ds isn't solely about medical risk?  What about better prognosis after leukemia and seizure disorders, less hardening of the arteries, diabetic blindness, fewer solid tumor cancers, fewer cavities, and lower likelihood of both cerebral palsy and high blood pressure?  Genes do not act in isolation, and I wish there were more balanced attention paid to the fact that Ds is not a disease unto itself, but a genetic existence.  Unusual, sure, but not a disease.

I also wonder what effect the diagnosis in and of itself has on rates of detection of health "problems".  When we got our diagnosis, we went through months of medical appointments to rule out statistically likely medical issues.  The results?  We have "discovered" some, but are choosing medical intervention for only hypothyroidism.  While the reasons we did all those tests were based on a real risk, I also wonder how much is confirmed simply by looking.  If I had subjected my other children to the same battery of medical screenings and tests, what would we have found?

Again, I'm don't want to minimize the real health concerns, and I think we need more understanding of what Down syndrome is, not less.  There are clearly differences relating to having three copies of a chromosome.  Still, the mainstream image of Down syndrome being a form of poor health in a way fundamentally different than a person with typical chromosomes doesn't feel right.

Lastly, I sense a real stigma permeating the discussion of medical risk and disease.  Now, I don't have a child with a significant medical issue.  (This of course, like for any human being, could change.)  However, when I read the comments in these articles talking about the new research, it almost feels as if the assumption is that an person gets leukemia, infantile spasms, Alzheimer's, etc., because of his inherently defective genetics.  To be sure, a significant risk factor could be Down syndrome, but the exact hows and whys that an individual develops a disease or condition is very hard to know.  There is no health condition that is unique to Down syndrome, after all.  My real concern: Doesn't this stigma contribute to discrimination against people with Down syndrome overall?

I just can't accept it as simple common sense that Down syndrome is unhealthy.  I just can't lay all of that on one chromosome.  Risk and statistics are very complicated, and tell us mostly about large groups of people.  It is harder with a single individual.  Just ask the mother who had a baby with Down syndrome after receiving 1 in 1000 odds after screening.  Clearly, she had a 100% chance of having that baby, but simply did not know every single factor that may have calculated into that equation of chance.

I'm saddened by the general public's quick leap into assuming that the ideal application for this new research is to "cure" or "prevent" Down syndrome itself, rather than treat a specific disease to enhance an individual's comfort and quality of life.  No one contemplates getting rid of an entire group of people in the name of better health, except, it seems, when it comes to genetic differences such as Down syndrome.  I know that the research is probably not intended as such, but why is the rest of the world so quick to go there?

My son with all 47 chromosomes is here to stay.  Let's slow down and try to understand what science has to offer, before we make any assumptions.  Down syndrome is part of genetic diversity.  It has been in existence for as long as humans have, and will continue to be.  Perhaps we should stop thinking that people with Down syndrome are surviving despite their 47 chromosomes, but with their 47 chromosomes.

Next up: Intellectual Disability*

* This, of course, assumes that I'll be able to keep my focus on this one topic of thought.  Wish me luck, as it is not a given.

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Edited to add: It has become apparent to me that I haven't addressed the topic of stigma against illness and disease enough.  I do not believe there is a hierarchy of human worth based on health status.  In fact, I believe that this tendency to define Down syndrome in and of itself as a unhealthy also contributes to sometimes poor medical care for those with complex medical needs.  I can't list the number of times I have heard parents express that doctors were less willing to intervene in serious medical situations because of their belief that "Down syndrome is just like that".  What I truly want is for each individual to be treated as a unique case.  Down syndrome must be accounted for when assessing medical needs, to be sure, but it can't be the entire picture.  ~jl

I'm Removing My Prenatal Testing Halo

I have had my moments of self-righteous judgement.  Shocking, I know.  I've strapped on my righteous halo in secret, just for comfort.

In the early weeks after discovering LP has Trisomy 21 (Down syndrome), I spent time pontificating on life and riding some emotional waves.  During that time, for a brief moment, despite all my reservations on prenatal testing, I wished we hadn't opted out.  For a brief moment, I thought we should have terminated.

For that brief moment, I felt a lifetime of guilt.

If my love had been more true, pure, strong, I would have never thought those things, right?  How could I think that awful thought while my baby lay in bed beside me?  I was ashamed to call myself a mother.

Then,  the pendulum swung the other way, and I felt a bit righteous.  I was raw and scared.  I needed to reaffirm my good (or at least not failed) motherhood.  I needed to reaffirm my love for my baby because I was terrified that he sensed my moment of doubt.  The world was telling me my baby wasn't worth it, and for a moment, I had let myself believe that lie.  To make sure everyone knew I'd come around, I strapped on my we-never-tested-because-we-would-never-terminate-halo and plunged ahead.

Let me tell you now, that was utter nonsense.  I apologize.  Deeply.  I have removed my halo.

I want to say some things to the women out there facing the difficult choices that line the road to motherhood.  Yes, to women.  In our still very patriarchal society, women bear an inordinate amount of shame and judgement for their reproductive choices.  So yes, I am talking to you, sisters.

To the mother who participated in prenatal testing, I stand by your choice to seek information.  Maybe you just needed to know, to prepare.  Maybe your doctor simply stated it was a matter of course.  Maybe you even opted to get an amniocentesis or CVS test.  I stand by you, because I refuse to judge the reasons behind your to need a  for a more certain picture of the baby you carried in your body.

To the mother who lost her baby after choosing CVS or amniocentesis, I stand by the best decision you could have made at the time.  I can't know how it feels, but I can imagine how it must cut you to hear another person glibly talk about those tests without knowing the loss you've experienced.  I refuse to judge the reasons you decided to do those tests.

To the mother who never considered termination, I stand by your conviction and certainty.  I don't know why termination was never an option for you.  Maybe infertility.  Maybe your faith.  Maybe because you simply couldn't or wouldn't.  I refuse to minimize you in any way; unwavering conviction is a powerful thing.

To the mother who did consider termination after getting prenatal test results, I stand by your private, personal journey.  Maybe you were scared.  Maybe you had no support.  Maybe you simply questioned the road ahead.  I refuse to judge the inner workings of your choices.

To the mother who terminated her pregnancy after getting prenatal test results, I stand by you simply as another woman and a mother.  It pains me to think of my own baby being aborted, but he wasn't, and I will not impose my feelings on you.  I have not walked in your shoes.  I don't know what you were told about your baby, nor do I know your baby's prognosis.  I don't know the circumstances of your life.  I refuse to judge you and I will not shame you.

To myself, the one who declined all testing, said she would never terminate and regretted my decision in a sad moment in time, I forgive you.  I reaffirm my belief to go on with pregnancy without the information given through prenatal testing.  I know now that neither my prenatal testing choices nor my doubts afterwards are indicators of my strength as a mother.

To my sisters, we may not always agree, but I refuse to judge you.  Let's all remove our halos.  We have all struggled and we are all imperfect beings.   We can stand together.

Potential, Disability, and Human Worth

So what is potential?  Is it a bottle that we fill, predestined to be a certain size at birth?  Is it a balloon that stretches and deflates according to our circumstances?  What, specifically, are we discussing here?  Potential for what?  Happiness?  Wealth?  Influence?  Raw ability?  What kind of ability?

I hear a lot of talk about potential.  I want my baby to develop to his full potential.  One of the reasons I was anxious about LP’s sleep apnea and his thyroid was that both conditions, left untreated, carry the very real possibility of causing permanent brain damage.  I’ll be honest here and admit that one of the hardest parts about hearing the words Down syndrome was the idea of my child having an intellectual disability.  So the idea of him having somehow more intellectual disability due to untreated health conditions freaked me out.  The future, his potential, loomed out in front of me, constricting, because I worried that he was losing something he could have had.  Lost potential.

I was wrong.

We live in an ableist world that defines potential against arbitrary values that change over time and context.  A person in a wheelchair is only disabled because the majority of the world uses two legs to get around.  A person who is intellectually disabled is only disabled because the majority of our society values certain cognitive skills and learning styles over others.  A person who is blind is only disabled because the majority of society relies heavily on their sight.  What modern day societies view as important is how we create our society.  Our roads, schools, buildings, are all created with this in mind.

Judging another human’s potential through the lens of their disability is not only a futile exercise, but it creates a hierarchy of worth.

It is dangerous.

This is why new prenatal tests are a vehicle for eugenics, under the guise of medical care.  This is why Ethan Saylor’s death was so tragically uncontroversial.  He was judged as already so limited in his potential due to his genetic makeup that his death was worth less scrutiny than another’s.  This is why parents fight to get their children included in the public school system; children with disabilities are seen as having less potential, less worth, just less.  Adults struggle against an employment system that believes their work is worth less than that of their non-disabled counterparts.

If most of us had one arm and were not neurologically wired to do math, the world would have developed to favor those characteristics.  Disability and a person’s potential are defined by the world’s ability to interact meaningfully with them, and not the other way around.  Potential is simply a mirror, reflecting the world’s biases, but having nothing to do with an individual himself.

So let’s stop drawing lines.  We are all disabled, we are all abled.  We are all different, we are all typical.  Let’s include each life into the web our collective potential, simply because we value human life.  No one is born with a smaller bottle or balloon.  Potential is potential, simply by living, no matter how we are born or how our life’s events unfold.  We are all infinite by our very existence.