October 19th, 2017

Why is it called Down syndrome?

John Langdon Down was the first person to notice that there were patients in an institution that had some similarities in their physical features, and other traits, and so investigated these similarities. He called these people ‘mongoloids’ and that term was used widely for about 100 years. In the 1970s the medical profession began using the name ‘Down syndrome’ as an acknowledgement of his research and discovery of many of the markers which may identify a person with the condition. Interestingly John’s son continued his father’s research and then went on to have a child with Down syndrome himself!

In most recent times, the term Trisomy 21 has emerged as a preferred name - it describes that there are 3 copies of chromosome 21 and leaves behind the negative perception that the word ‘Down’ can create.

Our family tends to use the more common Down syndrome as that’s what most people know it as. All of Emma’s therapists and doctors also use this term. Her paediatrician uses Trisomy 21 and that often causes confusion with medical students as they may not have come across it before... but we’re all here to learn and things won’t change unless someone starts the ball rolling. I’m a member of a number of support groups for parents and some use Down syndrome while others use T21 - it’s all the same to me and I don’t mind either! When Emma is old enough to ask questions, or realises herself that there is something different about her, then we will ask which term she would prefer us to use.

I came across some blogs when I was looking for some answers and my favourite is written by a Mum in the USA - her blog is called ‘Nothing Down About It’ and that’s precisely how I feel.