Down syndrome or Trisomy 21?

In this blog and all of my writings about Down syndrome, I have referred to the condition as ‘Down syndrome’, but the more accurate term is Trisomy 21…3 copies (Tri-)…of chromosome (-somy)…21.

In the online community a lot of parents have refused to use the term ‘Down syndrome’ and have adopted Trisomy 21 or T21 for short when discussing their child’s condition.
The main reason is due to the negative stereotypes that exist around Down syndrome as well as the dull and lifeless imagery of the word ‘down’ that a lot of people don’t want to associate with their children.
I’ve never been too fussed either way and have used ‘Down syndrome’ for two reasons. First, it’s the term everyone knows. When I write I don’t particularly want to preach to the choir. It’s no great achievement convincing other parents that our kids are pretty cool—we know that already.  I try to reach people who know very little about Down syndrome and may have never met anyone with the condition. I want to show people how much Down syndrome has changed so they may be more understanding and willing to accept Wade–and others with the condition–into the schools they attend or the workplaces they share or any other paths they may cross in the future. It’s a bit hard to change people’s hearts and minds about a condition they’ve never heard of or if they think I am talking about a completely different condition all together.
Second, the negative imagery about the word ‘down’ has never bothered me. Negative stereotyping doesn’t exist because we chose the word ‘down’. It exists because of the lack of understanding and opportunities for people with Down syndrome and I figured that a linguistic rebranding was not going to change that. I couldn’t imagine people suddenly rushing to employ someone because they have Trisomy 21 instead of Down syndrome.
But I think I’ve changed my mind.  Before I tell you why, a little background first:
IMG_2404 (1)-1
Down syndrome is named for the British physician who first described the condition in the literature—John Langdon Down.
Down was the Medical Superintendent at The Royal Earlswood Asylum for Idiots from 1858 (back then terms such as ‘idiot’, ‘imbecile’ and ‘moron’ were legitimate medical terms for people with intellectual disabilities and used as such).
Down worked with the residents of the facility extensively and noted the different types of conditions that seemed to be present in the patients. At the time, ethnology and phrenology were popular whereby different characteristics of the skull were correlated to the different potential intelligence of a person. This practice was becoming discredited and declining but had been used to try and differentiate different races from each other as some believed at the time, people from different races were not necessarily of the same species (!!! – outraged emphasis my own).  Different races had been classified into Mongolians, Aztecs, Caucasians, Malayans and Ethiopians presumably along some notion of intelligence and ability.
Down was interested in this idea as he believed he could see evidence of the different racial classifications in the different conditions at the Asylum. He published his findings in a paper titled Observations on an Ethnic Classification of Idiots in 1862. His work was not widely accepted and eventually abandoned but his description of the Mongolian type remained—this group would eventually be known as having Down syndrome.
One modern criticism of Down today is that he was a racist because of this work. The article however, makes this great point—that Down believed if the characteristics of one race could appear in a person of another race via ‘disease or degeneration’, then racial characteristics were evidence of the ‘unity of the species’ not a separation of it.
From this basis in ethnology, Down was able to describe a collection of common characteristics observable in a group of people he worked with. He coined  the term ‘Mongoloid Idiot’ or ‘Mongolism’ and this term was used from the turn of the century until around 1961. Two years earlier, in 1959, Lejeune, Gautier and Turpin discovered that the cause of the condition known as Mongolism at that point, was in fact a third copy of the 21st chromosome…Trisomy 21.  In 1961, a group of geneticists (along with people representing actual Mongolians…from Mongolia…) campaigned to change the name to Trisomy 21 Anomaly (among other suggestions), however it was decided to name it Down’s syndrome until the exact science behind the condition could be confirmed…but the name has remained ever since (although the ‘s has since been dropped).
The article then goes on to describe how Langdon Down developed programs and exercises to teach people with Down syndrome functional life skills and campaign for better resources to support low income families raising a child with a disability as well as being a big supporter of the suffragette movement. It’s a great read.
I find it fascinating to look at the changes in society’s attitude to Down syndrome over time. Nothing has changed genetically in all this time. Down syndrome still continues to be an extra copy of the 21st chromosome but the outcomes and ways of seeing the condition have changed dramatically.
 Once we learn more about something, the words we use to describe things should change to reflect that.  Just as it is no longer acceptable to call residential medical facilities ‘asylums for idiots’ or people with intellectual or developmental delay ‘retarded’, I don’t think it is completely correct to continue calling Down syndrome a ‘syndrome’.
The Merriam-Webster  online medical dictionary defines a syndrome as: ‘a group of signs and symptoms that occur together and characterize a particular abnormality’
So while that definition is correct to a certain point, the term ‘syndrome’ suggests that it is the group of commonly seen characteristics that binds the group together. But in reality–while there is a very very long list of ‘potential’ characteristics or health conditions that may come with Down syndrome–every one with the condition is unique. Some people display a lot of from the list and some very little. But what they DO all have in common is the extra chromosome.
It is the trisomy of the 21st chromosome that is the common link between all the members of the group. The list of signs and symptoms is a list of maybes that will tell you nothing about the potential of the person and will be inaccurate for a lot of people.
By defining the condition as a syndrome, we are suggesting that the future is set. That this list of commonly seen characteristics is ‘what to expect’ when a baby is diagnosed.
Of course, it is not logical to ignore the list all together. It’s true that you can tell a person has Down syndrome by their physical features. It’s true that people with Down syndrome have some level of developmental delay and a greater chance of some health conditions. It’s useful to have the list on hand as a guide, but that’s all the list tells you. It won’t tell you to what degree those delays or conditions will present. It won’t explain why some people have many, many co-morbidities and some have very few. It won’t tell you what a person’s life will be like.
IMG_2284-1
It’s an exercise in semantics to a certain degree but words have meanings.
And the meanings carry weight.
And that weight can weigh heavily if it’s not sitting right.
The term Trisomy 21 suggests that Wade has an extra chromosome. The End.
The term Down syndrome suggests that Wade has certain characteristics that define his condition. Which he may have or may not have. Which may present themselves more obviously sometimes or less obviously at other times. Which may affect his quality of life…or not.
As I said, I’m not offended by the term Down syndrome. It has no negative connotations for me per se but maybe if I started saying Trisomy 21 instead, I could start a new story for him instead of continuing the old stereotype.
If I say, ‘He has Down syndrome’, people think to themselves…oh I know what that is…I’ve seen it before. I already know what to expect and what I think about that.
But if I say, ‘He has Trisomy 21’, then that encourages questions. It means people’s minds are open to the answers I might give because in their mind, they haven’t seen it before. They have no preconceived ideas.
It makes sense in theory I guess. In reality, the conversation would probably go something like this…
‘He has Trisomy 21.’
‘What’s that?’
‘An extra copy of the 21st chromosome.’
‘What?’
‘It’s also known as Down syndrome.’
‘Well, why didn’t you just say that then??!!’
….
Oh well. It’s just a thought.
1. Ward OC. John Langdon Down: The Man and the Message. Down Syndrome Research and Practice. 1999;6(1);19-24.
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