Down Syndrome Associated with One Extra Chromosome

Down Syndrome is a condition that affects approximately 1 in every 800 births. The difference between a non-Downs baby and a Downs baby is the presence of all or a portion of an extra 21st chromosome. This condition was named after a British doctor named John Langdon Down, who made this discovery back in 1866. Having a cousin who has Down Syndrome, growing up with a girl with Downs who attended my church, and having taken care of a Down Syndrome child in my daycare for years, has given me a lot of insight into these special people.

Tests can be done during pregnancy, such as chronic villus sampling or an amniocentesis, to determine if the fetus has Down Syndrome. Also, at some point in pregnancy, an alpha feto protein test is offered for women of a certain age, to determine the presence of Down Syndrome. I had my first four children in my twenties, and my “caboose baby” at age 35. It was amazing how everything had changed because I had hit this magic number of 35. I was never offered this test with my other children because of the age factor. As a woman’s age increases, so does her chance of giving birth to a baby with Down Syndrome.

Even though I was 35 at the time of my last pregnancy, I declined the testing. I knew that I loved this baby, with or without Downs, and that she was going to be a part of my life regardless. Each woman’s choice to test or not is her own personal decision, and one that should be given careful thought because of the increased likelihood with each passing year over age 35 (Please note my source for this article has five pages. This information is found on page five.) . At the age of 30, a woman has a 1 in 900 chance of having a child with Downs, where as at the age of 35, those statistics change dramatically to a 1 in 350 chance. By the time a woman reaches age 40, the chances become 1 in 100 . It is thought that older parents have increased mutagenic exposures on their reproductive cells, which could attribute to the increased likelihood of Downs.

Down Syndrome kids (and adults) may have some impaired cognitive ability and physical growth, and a characteristic set of facial features that include an abnormally small chin (microgenia), very round face, and almond shaped eyes with an epicanthic fold. Down Syndrome kids may also have poor muscle tone, known as hypotonia. Several increased health risks come into play with Downs as well. These include a risk for congenital heart defects, gastroesophageal reflux disease (GERD), sleep apnea, obesity, and thyroid dysfunction. As I know from my cousin, who is now in his 40’s, he has ongoing health issues that require hospitalization from time to time.

Many children with Down Syndrome are able to attend special classes at regular schools, and many early intervention services are offered for children with Downs. Children over the age of three are guaranteed educational services under the Individuals With Disabilities Education Act (IDEA). Of the people I know personally with Downs, I find them to be very capable of learning, loving, and being productive members of society. Though no parent wishes for anything to be amiss with their child, the ones I know who have Downs kids actually feel blessed to have this beautiful child in their lives, as they have brought their families so much love and joy through the years.

People also view

Leave a Reply

Your email address will not be published. Required fields are marked *