National Séguin/Lejeune/Gautier Syndrome Day
Breaking my silence to address a notification that just came through in my news feed that today is “National Down Syndrome Day.” Words matter, as they construct our internal cognitive domain, & I feel the need to address the description of trisomy 21 syndrome (resulting from full or partial duplication of human chromosome 21) as “Down Syndrome.”
The British physician John Langton Hayden Down was not the first to describe this syndrome; in 1862, his “contribution” was to describe it as “mongolism,” suggesting that it represented “racial regression” to what Johann Friedrich Blumenbach had described as the “Mongolian Race” (a xenophobic human construct with no basis in nature), based on superficial resemblance of facial characteristics, presuming that the developmental issues of the syndrome paralleled those of a presumably primitive “Mongolian race.”
One xenophobic interpretation of Down’s “contribution” was that this represented heritable expressions of ancestral European women raped in the Mongolian invasion of Europe c. 1220-1240 A.D.
(In 1965, The World Health Organization deprecated the term “mongolism” in response to a request by a delegation from the Mongolian People's Republic).
Prior to this, the syndrome was often conflated with “cretinism,” impaired physical & mental development resulting from intrauterine thyroid deficiency. Édouard Séguin had earlier (1844) differentiated it from “cretinism” and offered a detailed description of the syndrome. Jérôme Lejeune and Marthe Gautier are credited for describing its origin in a duplication of chromosome 21 (c. 1959), resulting in 3 copies in affected individuals.
I’d suggest that recognizing John Langton Hayden Down’s “contribution” in describing this as “Down Syndrome” celebrates offensive xenophobia (is there such a thing as “inoffensive xenophobia”?) (for my homeopathic readers, perhaps I could use a remedy listed in the rubric Mind- Injustice, cannot support; but is the obverse, ability to support injustice, to be considered consistent with health?) and suggest that we might more appropriately refer to this as trisomy 21 syndrome, Séguin syndrome, or Lejeune/Gautier syndrome, recognizing the legitimate contributions of these individuals.
Nevertheless, today (& all days) we might regard those among us with Séguin/Lejeune/Gautier syndrome with compassion; Reggie Jackson, played by actor Daniel Laurie on the PBS series Call the Midwife (season 6 on) is as good an emissary as one might find, tho the circumstances of his fictitious idealized life are exceptional and far more blessed than most living with this condition.