Copyright © Françoise Herrmann
Translators, please
update your termbases!
In 2006, March 21 was
declared the International Trisomy 21 Syndrome Day (also known as Down’s
Syndrome Day). This date was chosen because it contains the scientific
explanation of this condition affecting about 1 in 1000 live births worldwide [WHO].
Indeed Trisomy 21 Syndrome arises as an extra 3rd chromosome in what is normally a
pair of chromosomes in position No. 21. For people affected with Trisomy 21, this extra
chromosome at position 21 is present in every single cell, and it thus causes a
whole array of symptoms and conditions which are well described and all part of
the Trisomy 21 Syndrome.
Indeed Trisomy 21 Syndrome arises as an extra 3rd chromosome in what is normally a
pair of chromosomes in position No. 21. For people affected with Trisomy 21, this extra
chromosome at position 21 is present in every single cell, and it thus causes a
whole array of symptoms and conditions which are well described and all part of
the Trisomy 21 Syndrome.
Since the breakthrough
discovery of Trisomy 21 (the genetic cause of Down’s Syndrome) in 1959, other trisomies
have been identified such as Trisomy 18 (Edward's Syndrome) and Trisomy 13
(Patua’s Syndrome), which may be detected via ultrasound and other tests during
pregnancy.
The eponymic term
“Down’s Syndrome”, a term bearing the
name of the 19th century British physician John Langdon Down who
first described this condition, should probably be completely replaced by the
new Trisomy 21 explanatory designation. This is because however empathetic Sir Langdon Down’s
description of Trisomy 21, it was exclusively based on observation and racial feature
characterization, which appears both truly offensive in the 21st century,
and completely erroneous.
Down’s description termed Observations on the ethnic characteristics of idiots [Down, 1866] purported that various conditions could be characterized according to ethnic feature, and in particular that people affected with Trisomy 21 could be classified as “idiots with Mongolian features”, hence the term “mongolism” or “mongloid” that is also applied to people born with Trisomy 21.
Down’s description termed Observations on the ethnic characteristics of idiots [Down, 1866] purported that various conditions could be characterized according to ethnic feature, and in particular that people affected with Trisomy 21 could be classified as “idiots with Mongolian features”, hence the term “mongolism” or “mongloid” that is also applied to people born with Trisomy 21.
Hard to believe… In any
event this is one huge indicator of how much very respectful misunderstanding
has surrounded people with Trisomy 21. A situation that is acknowledged by the NIH, for example, noting that 50 years after the discovery of Trisomy 21, the term "mongolism" is still widely and inappropriately used [NIH].
If you would like to continue to tip the
scales towards access and equality for all in celebration of this extra
chromosome day, visit http://www.worlddownsyndromeday.org/wdsd-2014
Or, you could just think 2 and add a third something
to whatever.. .
Being born with Trisomy 21 is
after all having something extra that no one else has.
References
Down, J.L. (1866). Observations on an ethnic classification of
idiots. London Hospital Reports, 2:259-262. http://www.neonatology.org/classics/down.html
WDSD – World Down Syndrome Day
http://www.worlddownsyndromeday.org/wdsd-2014
NIH- National Institutes of Health
http://www.ncbi.nlm.nih.gov/pubmed/19636252
WHO - World Health Organization
http://www.who.int/genomics/public/geneticdiseases/en/index1.html
NIH- National Institutes of Health
http://www.ncbi.nlm.nih.gov/pubmed/19636252
WHO - World Health Organization
http://www.who.int/genomics/public/geneticdiseases/en/index1.html
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