So what is Down Syndrome? Well, it is a genetic disorder caused by the presence of one extra chromosome in whole or in part of chromosome 21. In a typical human body there are 23 sets of two chromosomes each, so a person with Down Syndrome has three in the 21st set. Although this was not discovered until 1959 by Jérôme Lejeune it was John Langdon Down who was able to identify the syndrome in 1866.
Down Syndrome cannot be prevented and although it is passed down through the parents genetic material there is little known about the cause of the presence of the extra chromosome. But naturally, because of the extra copy of chromosome 21 there is an over expression in the involved genes and therefore the creation of extra product. For example, there can be an excess of collagen, which is often the cause of heart defects in babies born with Down Syndrome. Or there can be an excess in a genetic material called crystalline -for this reason, children often develop cataracts very early and yet another gene in excess can cause mental retardation. The list goes on.
Despite these setbacks people with Down Syndrome have the ability to lead fulfilling lives. We have many individuals in our community with Down Syndrome who contribute to society on a regular basis. They have their own set of gifts and talents. Many of them not only lead independent lives, but go to college and hold various occupations. This was not always the case however. Did you know that in 1929 the average life expectancy of a person with the Down Syndrome was only 9 years old? Today, many live to be close to 60.
There is hope but there is also much more to be done. The Canadian Down Syndrome Society continually seeks to provide information, resources and advocacy for individuals with Down Syndrome and their families. They can be found at www.cdss.ca
Did you know that the Edmonton Oiler’s Dressing Room Attendant, Joey Moss has Down Syndrome?
Did you know that there is a variation called Mosaic Down Syndrome in which only some of the body’s cells contain the extra chromosome 21?
Did you know that in 1989, 92% of pregnancies in the UK in which Down Syndrome was diagnosed by antenatal screening, were aborted....this statistic had not changed as of 2008.
Did you know that in Canada it is recognized as Down Syndrome, however in the UK it is known as Down’s Syndrome?