October is Down Syndrome Awareness Month!

Down Syndrome was first characterized in 1866 and since then there have been a multitude of advances! October is now Down Syndrome Awareness month and this year there is so much to talk about!

For starters let’s start with what Down Syndrome is.

In 1959, scientists discovered that Down Syndrome was a chromosomal condition. Every person has two sets of chromosomes 1-22, for the 23rd pair females have two X chromosome and males an X and Y chromosome. Most people have forty-six total chromosomes, however in those with Down Syndrome there is full or partial extra chromosome. The extra chromosome comes from three copies of chromosome 21, therefore Down Syndrome is often called Trisomy 21.

How common is it?

Down Syndrome is the most common chromosomal condition that occurs in about 1 in 800 newborns which means about 5,300 babies are born with Down Syndrome in the U.S. each year. About 200,000 people in the U.S. have Down Syndrome. Most cases are sporadic, new events. Only 1% of all cases are caused by a hereditary component, meaning mom or dad has a chromosomal abnormality making it more likely to have children with Trisomy 21.

Each person that has Down Syndrome is unique and some people have few or all the usual symptoms. These common symptoms include: low muscle tone, small stature, a single deep crease in the palm, an upward slant to the eyes, and intellectual disability. About half of patients are born with a heart defect.

Did you know that Down Syndrome patients can also experience a blockage in the intestines, gastroesophageal reflux, an intolerance of wheat proteins such as gluten, and an underactive thyroid gland? Down Syndromes patients are also at risk for childhood leukemia, hearing and respiratory problems, and Alzheimer’s disease.

Despite this, Down Syndrome patients are living long, healthy lives! People with Down Syndrome attend school, play sports, go to work, vote, and make decisions about their lives! They contribute to our society in so many positive ways.

I had the privilege to attend the Buddy Walk this past weekend in Columbia, SC. It was an amazing experience that let me interact first hand with the Down Syndrome community. Down Syndrome awareness has grown substantially in the past decade. Although, there is always room for growth and improvement, Trisomy 21 has made headlines quite a few times this past year.

Please enjoy these videos sharing the stories of people with Down Syndrome. I am happy to be able to include businesses that support the Down Syndrome community on the field, in the workplace, and in everyday life!

Bitty & Beau’s Coffee | Wilmington, NC

A coffee shop that is staffed and ran by employees with intellectual and developmental disabilities.

Visit their online site and store here: https://www.bittyandbeauscoffee.com

Children’s Hospital of Boston | Boston, MA

A patient of the Down Syndrome clinic is now an employee!

Family Connection of South Carolina Buddy Walk | Columbia, SC

Check out there Facebook page to see some awesome photos from this past weekend’s local event!

https://www.facebook.com/FamilyConnectionofSouthCarolina/

Locate and reach out to your local Special Olympics program to see if you can help or join in the fun!

http://www.specialolympics.org/program_locator.aspx

Courtney Whitmore is a genetic counseling graduate student at the University of South Carolina Genetic Counseling Program.

Find a genetic counselor at Palmetto Health USC Genetic Counseling or feel free to contact us at 803-545-5775 or genetics@uscmed.sc.edu. We look forward to serving you!