October Marks Down Syndrome Awareness Month

By CooperGenomics — October 13, 2014

1 min read

Life as a teenager can get pretty crazy. For Evan Parker, the last year has been crazier than most: a stroke in October, followed by brain surgery in January, and just two weeks ago, being crowned homecoming king at his high school! Despite not having being on the homecoming court, his friends and classmates voted for him overwhelmingly, and the other students were even preparing to give up the crown if Evan didn’t win.

Evan was born with trisomy 21, also known as Down syndrome, which is a genetic condition caused by having an extra copy of chromosome 21. There are currently around 400,000 Americans with Down syndrome, making it one of the most common genetic conditions. Individuals with the condition often have some common physical traits such as short stature, upward slanting eyes, a single crease in the palm, and low muscle tone. Affected individuals also typically have mild to moderate intellectual and developmental delays, as well as health complications including heart defects, leukemia, and thyroid conditions.

Down syndrome is typically not an inherited condition. Most of the time, it is due to a sporadic, or random, event that leads to either the mother or father passing on an extra copy of chromosome 21 in their egg or sperm. This typically happens more often in the mother and the chance that this could occur increases as a woman gets older.

Women with greater risk for having a child with Down syndrome are able to test for the condition during pregnancy via screening and diagnostic tests. Screening tests, which are routinely performed, look for markers that might increase or decrease risk for Down syndrome and other genetic conditions in the pregnancy. If the screening shows high risk, then a diagnostic test is offered to confirm whether or not Down syndrome is present in the fetus. These diagnostic tests are performed via amniocentesis or chorionic villus sampling; these procedures are very similar but they occur at different times in the pregnancy. Couples can use the information obtained from these tests to assist in their reproductive decision-making.

Despite the challenges that he has faced, Evan is a positive, caring young man, always making everyone around him smile. He is just one example of the full and meaningful lives that people with Down syndrome can lead. To learn more about Down syndrome and how you can show your support during the month of October for Down Syndrome Awareness Month, visit the National Down Syndrome Society.