The Tribune

By YAN SMITH

Down syndrome (DS) is a disorder that has been around for ages. Frankly, before I became knowledgeable of the origin of the name Down syndrome, I detested it. To me, it evoked sadness. It was as if the individuals with DS should be pitied. When I was made privy of how this name originated, I felt humbled at first, then appreciative.

Let’s go back in history to a time where science was making new discoveries almost daily. Down syndrome, as it is now called, has for centuries been alluded to in art, literature and science. It was first discovered by British physician Dr John Langdon Down, who the condition was ultimately named after. In 1866, Dr Down identified a specific group of patients whose characteristics were very similar. There was no previous information provided on this special group, and for the next 20 years the term “Mongolism” was used to describe people with those characteristics.

People with Down syndrome were in the past also referred to as “Mongolian imbeciles” or just “idiots”. These individuals were often institutionalised and cast out of society. In addition, many of them never lived beyond their teen years. The term Down syndrome didn’t become the accepted term until the early 1970s, according to the National Association for Down Syndrome.

More was discovered about the condition when a French geneticist, Professor Jérôme Lejeune, discovered that individuals with DS have an extra chromosome. Shortly after this, chromosome studies were developed to confirm the diagnosis. In 1965, at the request of the People’s Republic of Mongolia, the World Health Organisation (WHO) adopted the term Down’s syndrome as the universally accepted term. The apostrophe ‘s’ in “Down’s” was officially dropped in the early 1980’s.

Fast forward to today. The diagnosis, treatment and life expectancy of individuals with DS has increased and more information has surfaced about this condition. According to the Centres for Disease Control (CDC), the life expectancy of people with DS in the 60s on average. In 2007, studies showed that the average person with DS lived to be almost 50 years old. Even more spectacularly, expecting mothers are now able to find out if their unborn baby is at high risk of being born with DS within the first trimester of their pregnancy. This is a huge improvement, because although it may be a life-altering occurrence, these pre-natal screenings allow expecting mothers to do their part to prepare for what’s to come.

Facts about Down syndrome

Down syndrome is a congenital disorder where a baby is born with an extra chromosome – chromosome 21. We were each born with 46 chromosomes in each cell – 23 from our mothers and 23 from our fathers. However, individuals with DS have 47 chromosomes in each cell. This extra chromosome impacts how a person looks and their cognitive development. Common physical traits of individuals with DS include: poor muscle tone, flattened facial profile and nose, small head, ears and mouth, upward slanting eyes, webbed toes and fingers.

From the time of its early discovery to now, a lot has been done to increase the chances of functional living for these individuals. From a more personal perspective, these individuals are extremely loving, helpful and affectionate. Like any other child with a developmental delay, all they need is a bit more care and attention. Therefore, despite what the name may connote, there are more than enough reasons to hold our heads up when it comes to Down syndrome.

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