Down Syndrome? Down’s syndrome? Is Mongoloidism still used? Trisomy 21? Which is it? Well, this part of the Book attempts to answer why the condition my daughter is called “Down syndrome”.
The genetic basis for Down syndrome, while somewhat helpful, does little else to describe what the condition is that we now call “Down syndrome.” Perhaps its name itself could shed light on the condition. After all, for most other conditions associated with health, the name is descriptive for what it is, e.g. “whooping cough,” “congestive heart failure,” “irritable bowel syndrome,” and more suggest by the very name what the condition is.
Prior to the publication of Dr. Down’s paper in 1862 (quoted at the beginning of this chapter), there had not been a description of the condition we now know as Down syndrome. That was the significance of Dr. Down’s paper: it described a new aspect of the human condition held commonly by a group of people with similar characteristics. Based on his paper, those with an extra 21st Chromosome came to be referred to as “Mongoloid Idiots.” This terminology was based on Dr. Down’s hypothesis that the condition was an evolutionary regression, a step back, like those of the people of Mongolia (in Dr. Down’s estimation).
Individuals with a triplicate of the 21st Chromosome continued to be referred to as “Mongoloids” well after Dr. Lejeune’s discovery of the genetic basis for the condition (who is also quoted at the start of this chapter). A mother in Maryland as recently as 2004 received a pamphlet from her birthing hospital after delivering her daughter with Down syndrome that was titled,
“Your child is a Mongoloid, now what?”
Dr. Lejeune’s discovery, though, disproved Dr. Down’s hypothesis. Those with Down syndrome were not the result of an evolutionary regression. (As an aside, the people of Mongolia are not either). Rather, children born with what would be described as Down syndrome instead had a triplicate of the 21st Chromosome. Yet, despite this definitive genetic explanation for the condition, it is not commonly referred to as “Trisomy 21.”
Instead, in 1965, the World Health Organization considered whether to rename Mongoloid Idiocy, having received feedback by families that they found that term objectionable (somewhat shocking that WHO had to be told that—is it not self-evident that calling a parent’s child a “Mongoloid Idiot” would be objectionable?). The committee debated whether to honor the first physician to describe the condition, or simply to call it by its genetic basis of Trisomy 21, or honor the physician who discovered the genetic basis by naming it “Lejeune syndrome.” Ultimately, like Columbus erroneously calling American Natives “Indians,” because Dr. Down described it first, his name was chosen, hence “Down syndrome.”
In the United States, the condition is called “Down syndrome” with that spelling: upper case “D,” lower case “s”. There has been a movement for some time in the medical academy to move away from labeling health conditions after the physician(s) who first described them. Nevertheless, that movement has not caught up to Down syndrome. And, in most British Commonwealth states, e.g. England, Australia, etc., the condition is referred to as “Down’s syndrome,” that possessive “s” further emphasizing Dr. Down’s “ownership” of the name.
Even before becoming a parent to a child with Down syndrome, I thought the name for the condition described the effect of the syndrome. Since children with Down syndrome were considered slow learners and not as physically athletic as other children, I thought “Down” meant that their intelligence and physicality was lower than other children’s. I doubt I’m alone in not knowing that “Down syndrome” was called that because the guy who wrote a paper around the time of the Civil War happened to have the last name of “Down.”
After Juliet joined us and I learned the origin for her condition, I wondered how differently I would have reacted to the diagnosis, how her teachers and possible future employers would respond when learning she was joining their class or workforce, if Dr. John Langdon Down had instead had a different surname.
At my first base in the Air Force, an Academy grad joined our legal team. His name was “Jim Winner.” I joked that his closing argument for every court-martial should start, “I’m Captain Jim Winner. I come from a long line of Winners.” I expect some of the pre-judgments made about people with Down syndrome’s capabilities and potential would be vastly different if people were informed that my daughter and others like her had “Winner syndrome.”
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