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Tuesday, October 01, 2019

Down Syndrome or Trisomy 21

Today, Oct 1, is the start of National Down Syndrome Awareness Month.

For 10 years I participated (and later hosted) the annual 31 for 21 blog challenge. I didn't do it last year and I doubt I will put up 31 posts this month.

I do miss doing it, but over the years interest and participation waned; and most people now just use FB, Twitter, and/or Instagram to post a daily picture or fact about Down syndrome.

After 10 years of 31 for 21 and 13 years of blogging in general I'm not sure what more I can blog about anyway. What more about Down syndrome can I write about? How much more awareness and acceptance can I preach about? And aren't I just preaching to the choir anyway?

I did read an article in a local magazine that was timely enough for me to put up at least this post for the start of National Down Syndrome Awareness Month.

This paragraph got me thinking about a few things:

This describes the latter two of Trisomy 18 and Trisomy 13 being caused by extra chromosomes but it doesn't mention anything about what Down syndrome is. It also seems to separate Down syndrome as one thing and T18 and T13 as a different type of condition when they are all essentially very similar and they are all caused by having a third copy of their respective numbered chromosome. So it's not just the 'latter two" that stem from an extra chromosome.

It also got me thinking about the language used to describe each condition. Down syndrome is also Trisomy 21 but very rarely referred to as such. Trisomy 18 and 13 are also called Edwards and Patau syndromes but seem to be more frequently referred to by their trisomy diagnosis. I wonder why that is. Is it because Down syndrome is more widely known because it's more common?

I noticed even national (and international) organizations all use Down syndrome. I don't know of all the organizations for T18 and T13, but did find the Trisomy 18 Foundation (and most of the search results for other websites more often than not use T18/13 instead of Edwards/Patau syndrome).

I got curious and started digging a little more.

Down syndrome is named after Dr John Langdon Down who, in 1876, described a similar set of characteristics that people had, but it was Dr Jerome LeJeune who discovered, in 1958, that people with those characteristics all had a third copy of chromosome 21.

Patau syndrome was first observed by Thomas Bartholin in 1657 (!!) but the third copy of the 13th chromosome was discovered by Dr Klaus Patau in 1960. I wonder if it ever called Bartholin syndrome and later changed to Patau syndrome? Or even though it was observed by Bartholin was there never any specific medical diagnosis name given to it until Dr Patau discovered the third copy of that chromosome?

All I could find out about Edwards syndrome is it was first described by John H. Edwards in 1960.

Language can and does change throughout the years. Dr Down used the term "Mongolism" to describe what we now know is Trisomy 21. It wasn't until the early 1970s that Down syndrome was more widely accepted - even though 12 years before that Dr LeJeune discovered the extra chromosome! So why start calling is Down syndrome at all by the 1970s; why not call it LeJeune syndrome, or, as with Trisomy 18 and 13, refer to it as the trisomy that it is?

I also wonder if years from now the term Down syndrome does fade away and it simply becomes more commonly known as Trisomy 21 will there not be as many preconceived notions/ideas? Will people think of something else when they hear "Trisomy 21" than when they hear "Down syndrome"?

Lots of random thoughts from that one little paragraph!

1 comment:

Adelaide Dupont said...

Here is what I think, Michelle.

18 and 13 were really found after the Human Genome Project when it became accessible to talk about chromosomes and genes in everyday conversation.

John Langdon Down is such a personality and a shadow still.

Also people participate on Tumblr.