Ch. 4, Part 5: Down syndrome & intellectual disability

The first sections of Chapter 5 addressed the very basics of what Down syndrome is and why it is called what it is. The next sections will cover the common factors associated with Down syndrome, beginning with intellectual disability.

The common association most people have with hearing the term “Down syndrome” relates to faces, hearts, and minds of those with the condition. Because the effect on the mind is the one most focused on by clinicians and expectant parents considering whether to continue a pregnancy, that will be addressed in this section, with the physical aspects of the condition addressed in the following section.

“Idiocy,” “mental retardation,” “intellectual and developmental disability.” Those are the three formal classifications for the mental effect of Down syndrome: that those with the condition experience a range, generally, of mild to moderate intellectual disability, with severe being an outlier. But what does “intellectual disability” or “retardation” mean for the person living the life with the condition?

Most associate the term with a slowness of the mind’s functions as well as a limited capacity for the mind, putting certain concepts out of reach for those with intellectual disability, depending on the level of disability. Those with limited exposure to individuals with intellectual disability may cause a person to believe individuals with such a condition to amount to nothing more than “mere blobs,” as Dr. Owens described Baby Doe based on his limited observations of a single, distant relative.

And, indeed, “mere blobs” is how those with Down syndrome were treated for most of the 20^th Century. The routine advice new parents received was to have their child institutionalized, go home, and act as though the child never was born.

This was common practice well past the mid-point of the 20^th Century. Children would be born with Down syndrome, sent to institutions that at the time were little more than human warehouses, provided little stimulation, and live out their days with other similarly warehoused patients. It is unsurprising then that when medical professionals treated individuals with Down syndrome that had been so neglected the physicians would consider them “mere blobs.” Because individuals with Down syndrome were warehoused, segregated and out of the public’s sight, most medical professionals only were aware of such a rare genetic condition based on medical textbooks. Where were the images taken that appeared in the textbooks? At the institutions. This negative portrayal perpetuated throughout the medical culture a vision of individuals with Down syndrome being inert, slack-jawed, borderline catatonic people. The effects of institutionalization and lack of stimulation and education were instead attributed to their genetic condition, not their living conditions.

But then some families started to buck the trend of institutionalizing their newborns. More and more began to bring their children home and care for them. As the political commentator George Will flatly wrote about when his son Jon was born with Down syndrome,

The day after Jon was born, a doctor told Jon’s parents that the first question for them was whether they intended to take Jon home from the hospital. Nonplussed, they said they thought that is what parents do with newborns.

These children, raised in a loving family and treated like their siblings and other neighborhood children, did not exist as mere blobs. Instead, as these trailblazing parents continued to advocate for their children to be included in their public schools, in the workplace, and in their communities, they began to demonstrate capabilities that would shock and surprise others who did not know a person with Down syndrome could read, write, work at a job, have friendships, fall in love—some remain even astonished that they can walk.

My colleague Stephanie Meredith has presented on this somewhat miraculous transformation in what a life with Down syndrome has come to mean: going from “mere blobs” to individuals included in their community and thriving in it. She facetiously titles her presentation “That Ever-Changing 21^st Chromosome.” Facetious because what has changed to allow individuals with Down syndrome to be active members in our lives has nothing to do with the 21^st Chromosome, but rather has everything to do with how society has changed in accepting individuals with Down syndrome as having the same unalienable rights we all should enjoy.

All of this is not to say that the mental effects caused by the additional genetic material of the third 21^st Chromosome are entirely nurture-based which can be overcome simply by early intervention, inclusive education, and job supports. The effects and boundaries imposed by the mental deficit caused by intellectually disability are real and should not be sugar coated.

It was explained to us when Juliet was born that all of us are on a bell curve of capabilities and talents: whereas I may be in the higher percentile when it comes to abstract thought and writing ability (the reader can gauge where they would put me having read this far), I am wholly deficient in any athletic talent (my fraternal twin–quite the athlete–having kicked that out of me in the womb). Similarly, individuals with Down syndrome also have a range of talents and skills and deficiencies. There are children and adults with Down syndrome who are non-verbal; but some of these communicate through sign language or an assistive communicative device, made ever more affordable and easier with the advent of iPads and tablets and apps. On the opposite end of the bell curve, there are individuals like Karen Gaffney, a woman with Down syndrome who gives talks around the world, without notes, and has swum the English Channel as part of a relay team and the width of Lake Tahoe on her own. In 2013, the University of Portland awarded Ms. Gaffney an honorary doctorate of humane letters.

But, let’s be honest: Ms. Gaffney is as representative of those with Down syndrome as Michael Phelps is of all who have ever swam. The fact is that 99% of all individuals with Down syndrome will not receive a doctorate of any kind. That fact, however, also applies largely for the general population as well. Plus, through efforts like ThinkCollege, there are hundreds of post-secondary, university-based programs designed for individuals with intellectual disability. So, while it is very unlikely that any of us will have a post-graduate degree, it is increasingly likely that many, and then most, children will attend college-based classes, intellectual disability or not.

Still, it is this universal impact of the extra 21^st Chromosome—intellectual disability—from which the concerns arise when receiving a prenatal test result positive for Down syndrome. Immediately, the future expected by the parents for the child is foreclosed, regardless of what that vision of the future was. It is natural for parents to envision their child following a path similar to their own, only hoping that it is even better, more prosperous, healthier, and happier than their own. This is and should be the natural inclination of parents: to want a better life for their children than the one they have had. A test result of “Down syndrome” instantly creates a challenge to envisioning that natural hope for a better life.

It is similarly a challenge for most medical professionals counseling expectant couples to envision the same or better life for the expectant child. Consider that medical professionals are in that 90+ percentile of not just having graduated high school and college, but gone on to spend almost that much time in medical school, residency, and fellowships to reach their specialty in the medical profession. Their path is likely an impossibility for an individual with Down syndrome. So, when considering the future of a child foreclosed to the life they have chosen to live, it is a built-in challenge to counseling parents about what life can be like for their child with Down syndrome. Small wonder, then, that most parents receiving a prenatal test result opt-out of that future life when given the chance.