Every day, we see genes at work. When we look into someone’s eyes, we know that they’ve inherited that chocolatey brown or vibrant blue from their parents, and when we marvel at how tall our mate is, there’s a genetic link somewhere in their family. Despite the similarities to our biological family members, and the fact that we share genetic material, we are all different. Sometimes, the things that make us different from everyone else are caused by a genetic anomaly.
Genes are the basic units of heredity. They consist of DNA, which is part of a larger structure called a chromosome. Humans have 23 pairs of chromosomes. For reasons unknown to us, an error occurs at the cell division stage when a child is conceived. If the chromosomes do not split into equal halves, the new cells can have an extra chromosome (47 total) or have a missing chromosome (45 total), resulting in a genetic condition.
Down Syndrome is the most common of the 6000 genetic disorders found worldwide, and it is probably the most recognized. Named after Dr. John Langdon Down, the first physician to identify the condition in 1862, Down Syndrome occurs when an extra chromosome 21 is present in the DNA structure and can occur in people from all races, cultures, and social backgrounds.
Each year, March 21 marks World Down Syndrome Day, a time to celebrate and embrace the differences of people with Down syndrome. We are all unique individuals, with differing looks, health needs, and intellectual abilities, the same can be applied to a person with Down syndrome. On World Down syndrome Day, people all around the world celebrate the lives and achievements of people with Down syndrome. March 21st provides an opportunity to raise awareness about the rights and inclusion of people with Down syndrome in Australia and around the world.
In Australia, 1 in every 1100 babies is born with Down syndrome. As Down syndrome is a genetic condition, there is a screening test available for expectant parents who are interested in discovering if their unborn child may have the condition. The Prenatal Peace genetic test from EasyDNA Australia is non-invasive, requiring no amniocentesis or chorionic villus sampling. The test also screens for 17 other genetic conditions and provides accurate results in a timely manner.
A standard blood draw is all that is required to undertake the DNA test, but it should be mentioned that this does not replace a diagnostic test. If you are in any way concerned that your unborn baby might have a genetic condition such as Down syndrome, then a screening test can provide much-needed peace of mind for parents to be.
Did you know that people with Down syndrome often lead very fulfilling lives? They attend schools, have a wide range of talents, have jobs and relationships, are emotional like anyone else, and participate in many regular social activities. People with Down syndrome and their families have shared personal stories about their lives, which can be read on the Down Syndrome Australia website.
You can be active in raising awareness of Down syndrome, by participating in the Lots of Socks campaign. Nominate a day in your workplace or school to wear your loudest, brightest, most crazy socks. Ask for a gold coin donation and proceeds can go to your local Down syndrome association. (Call 1300 881 935 to find the closest association in your state or territory) Other awareness and fundraising ideas include a ‘Morning Tea for Trisomy 21’ or choose one of the many events listed here.
Down syndrome awareness is something that everyone can get behind this March, so put your best (crazy-socked) foot forward!
It’s time to celebrate individuality and Down syndrome is no exception.