October is Down syndrome awareness month. How about some facts?
Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.
There are three types of Down syndrome: trisomy 21 accounts for 95% of the cases, translocation accounts for about 4%, and mosaicism accounts for about 1%. Gabe has trisomy 21.
Down syndrome is the most commonly occurring chromosomal condition. Approximately one in every 700 babies in the United States is born with Down syndrome.
Down syndrome occurs in people of all races and economic levels.
The incidence of births of children with Down syndrome increases with the age of the mother. But due to higher fertility rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age. I was 27 when I had Gabe. The only sign of his DS was his heart defect. I am glad I knew about his diagnoses prior to giving birth because it allowed me to work through the emotions so I was ready to fully love and care for him when he was born. Many spontaneous miscarriages are thought to be from chromosomal conditions. My body proved I could carry to term, so I had a 1 in 100 chance of having another child with a chromosomal condition. I had some prenatal testing when I was pregnant with Alyssa and results came back that she had a 1 in 14,000 chance of having a chromosomal condition. I wasn't really fearful of DS, more so of the medical complications, so the prenatal testing, along with a fetal Echo, was nice reassurance of a healthy baby. Prenatal testing is of course a personal choice, but was the right one for me for both pregnancies.
People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defect, respiratory and hearing problems, Alzheimer's disease, childhood leukemia and thyroid conditions. Gabe had the heart defect, has some reactive airway issues with illness, and we are watching his borderline thyroid levels closely. There is a lot of medical information to discover in that 21st chromosome.
A few of the common physical traits of Down syndrome are: low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm. Gabe has all of these features. Low muscle tone causes his sleep apnea, need for foot orthotics, slightly awkward gait, eye focus/shakiness, speech articulation, chewing and swallowing speed, fine motor delay, and endurance in general.
Life expectancy for people with Down syndrome has increased from 25 in 1983 to over 60 years old today.
All people with Down syndrome experience cognitive delays, but the effect is usually mild to moderate and is not indicative of the many strengths and talents that each individual possesses. Gabe has always caught on very well to reading. Math requires more manipulatives and takes alot more time. Following multi step directions can be hard for him. However, he also memorizes the roads we take to get to places and questions my driving ability if I take a different exit to get somewhere he is familiar with. He memorizes a schedule, peoples full names, pets names, favorite colors, etc. Routine and schedules help him tremendously. He also has a greater sense of emotion than many other children his age. He notices if someone is upset or sad and gets very concerned.
Quality educational programs, a stimulating home environment, good health care and positive support enable people with Down syndrome to lead fulfilling and productive lives. Thank you all for being part of Gabe's team.
*Facts obtained from the National Down Syndrome Society





