Growing up, I knew my cousin Mike was different. He was 16 years to the day older than me, but his speech consisted of mostly “yah” and “no.” Occasionally, he would say a few other words, but for the most part, verbal communication was not his strong suit.
Mike was obsessed with his toy blocks. When the letters wore off, his mom, my great-aunt, bought him a new set, but he would not use them. So I painted new letters on the old ones. If he saw one side of a block, he could tell you what letter belonged on every other side of that block, from memory. This was Mike’s strength: He was great at remembering things.
Mike has Trisomy 21, Down Syndrome. This means he has an extra copy of his 21st chromosome — he has three (tri) instead of the typical two. People with Down syndrome typically have mild to moderate cognitive delays, and an increased risk for certain medical conditions. But they can be vibrant, functioning members of society and have much to offer their communities. This month, during Down Syndrome Awareness Month, people with Down syndrome and their families are celebrating their abilities.
A different life, but a full life
Mike’s condition did not prevent him from working in a store sweeping, or from playing Mario Bros. with me for hours when I was 10. His great memory led him to beat me on every level, because he knew all the Easter eggs (hidden sequences) in the game. Down syndrome did cause him to have some associated physical characteristics, such as short stature, an upward slant to his eyes, and a long forehead. His speech was greatly affected, as was his understanding of some things, such as why a birthday cake had both of our names on it (we share a birthday).
When Mike was born in 1968, the available resources for education and healthcare were much different than they are today. In 1983 the life expectancy of a person with Down syndrome was 25; today it is close to 60. When Mike was born, his mother was urged to send him to a group home immediately. My great-aunt refused, and raised him herself, as he was still her son.
Mike’s parents are now both deceased, so he lives in a group home in upstate New York, but he is one of the lucky few his age who grew up at home with his biological parents, sister and brothers. Some of his housemates have never met their biological families.
A child born with Down syndrome today can expect to lead a fulfilling life. With access to early intervention therapies, these children have a better chance of achieving developmental milestones. Physical therapy, speech and language therapy, and occupational therapy can help children develop gross motor skills, learn to communicate, and learn to care for themselves independently.
Get the facts
Important information about Down syndrome (Source: National Down Syndrome Society):
- Out of every 691 babies born in the United States, one will have Down syndrome. This makes Down syndrome the most commonly occurring chromosomal condition.
- Down syndrome is not associated with a particular racial or ethnic group. It occurs in families of all economic levels.
- Common physical traits associated with Down syndrome include low muscle tone (“floppiness”), small stature, an upward slant to the eye, and a single deep crease across the palm. However, each person with Down syndrome is unique. These traits may appear only to a lesser degree or not at all.
- People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer’s disease, childhood leukemia, and thyroid conditions. Many of these conditions are now treatable, so most people with Down syndrome lead healthy lives.
- The risk of Down syndrome increases in older mothers. But because more children are typically born to younger women, 80 percent of children with Down syndrome have mothers younger than 35 years old.
Down syndrome is caused by an anomaly of chromosome 21. There are three forms of Down syndrome. (Source: Noah’s Dad blog)
- Nondisjunction is when a full copy of chromosome 21 is present. This is commonly referred to as Trisomy 21. This accounts for 95 percent of cases. Nondisjunction is a random occurrence.
- Translocation occurs when an extra piece of genetic material is attached to one of the 21st chromosomes. This accounts for 4 percent of cases. It can sometimes be a genetic condition.
- Mosaicism occurs in about 1 percent of cases. This means that some cells of the affected person’s body contain the extra chromosome, but not all. This occurs either when the extra chromosome is copied after the first cellular split following conception, or if the original fertilized egg started out as Trisomy 21, but after cellular division, the additional chromosome stopped being copied at some point in the development process. Mosaicism is a random occurrence.
How to learn more
Rick Smith, who blogs at Noah’s Dad, shares his perspective as the parent of a child with Down syndrome. Rick’s son, Noah, was diagnosed at birth. Before then, Rick didn’t know much about Down syndrome. On his blog, he shares resources for parents and aims to show that living with Down syndrome is okay, and that children with Down syndrome are blessings.
If you want to adopt a child with Down syndrome or other special needs, Reece’s Rainbow can provide assistance.
A local resource for families is Family Connection. With offices in Columbia and five other cities across South Carolina, Family Connection facilitates peer support for parents and siblings of children with special needs, including Down syndrome.
What Mike taught me
Even though Mike was different, and even though he has many intellectual and physical challenges, he taught everyone in my family the important lesson that all lives are precious. He was a fixture at family gatherings, playing with his blocks. When my grandfather took me to visit, I looked forward to playing Nintendo with Mike. I will always cherish those memories, and I regret that due to geographical distance, I am unable to visit him currently. I know that he is happy where he is and living his life among people who care about him.
Knowing all that I do about Down syndrome, I still had a nuchal fold screening during both of my pregnancies to determine probability of genetic anomalies such as Trisomy 21. I would have carried the pregnancy to term either way, but I still wanted to know in advance if I needed to be prepared for any medical issues. Although my great-aunt had no way to know Mike had Down syndrome before he was born, as medical technology had not yet reached this level, I know that she would have chosen life for him, too.
Photo, bottom right: Andreas-photography / Foter / CC BY-NC , Featured Image Photo credit: ~Rich Johnson~ / Foter / CC BY-NC-SA
Do you have a friend or family member with Down syndrome? Tell us about your experience in the comments.
