World Down Syndrome Day

Taking a moment to appreciate my two uncles who have Down syndrome.

I happen to have two uncles that have Down syndrome. In fact, it’s through my uncles that my two sides of the family met and know each other. They play an important role in how my mom and dad met. And perhaps, if it weren’t for my uncles, I wouldn’t be here.

I’ve thought a lot over the last few years about the impact that my two uncles have had on my life. When I think back to my childhood, many of my happiest memories were of going back to visit our family here in Omaha (We lived in Indiana at the time). We would stay at my grandparent’s lake house and my Uncle Norman would be there with us. We’d always visit with my other uncle with Down syndrome, Tom, usually for dinner or for family gatherings such as our incredibly Fourth of July get togethers.

Norman is sometimes hard to understand due to his speech impediments, but that doesn’t keep him from talking with anyone who is willing to listen. He loves talking with anyone and everyone. He’s super friendly, and you may even get an unexpected hug from him if you stop to chat with him.

Usually you can guess what he’s wanting to talk about 90% of the time. WWE wrestling. There’s not a bigger fan in this world of WWE wresting than my Uncle Norman. Knowing the names, moves, and catch phrases of popular wrestlers is probably a good idea if you’re wanting to talk for any length of time with him.

Growing up and visiting Norman every summer was definitely a highlight of my childhood. He’d play me in pool, willing to put up with me not using a pool cue when I was a kid. He played me in checkers and in the board games Sorry and Trouble. We loved throwing the frisbee with each other near the lake. He was always willing to play with me. Still is.

My Uncle Tom is soft spoken and is about the most gentle man you’ve ever met. He’s cautious and kind. He is a man who loves his family. He also loves Batman, Scooby-Doo, and photos – especially of his family. He’s always very proud to call me his nephew. I remember going out to eat with him as a kid and him telling anyone who’d listen that I was his nephew, giving a great big grin as he said it. That made me proud, too. Still does.

I’m not sure exactly how having two uncles with Down syndrome affects how a kid processes life. But I know that it affected how I saw other people and expanded my worldview. It helped me notice other people with neurological differences, and see them as special individuals. Needless to say, I’m very thankful for my uncles and the impact they’ve had on my life.

I know that my uncles have definitely affected how I’ve processed the fact that Micah has Kabuki syndrome. Perhaps knowing and growing up with my uncles has helped prepare me in certain ways as I try to decipher what is Kabuki syndrome and what is simply Micah’s personality as Micah grows older.

Here are my uncles meeting Micah for the first time:

My Uncle Norman meets Micah for the first time.

My Uncle Tom meets Micah for the first time. I love how this picture is so similar to the one of him holding me.

***

Most people are aware of Down syndrome, they may be able to recognize someone who has  the condition, but many do not actually know what it is exactly. So I thought I’d give some details and facts about Down syndrome with the help the National Down Syndrome Society‘s website.

The Basics

In every cell in the human body there is a nucleus, where genetic material is stored in genes.  Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes.  Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. 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. 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 – although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.

How Common is Down Syndrome?

One in every 691 babies in the United States is born with Down syndrome, making Down syndrome the most common genetic condition. Approximately 400,000 Americans have Down syndrome and about 6,000 babies with Down syndrome are born in the United States each year.

What Causes Down Syndrome?

The cause of the extra full or partial chromosome is still unknown. Maternal age is the only factor that has been linked to an increased chance of having a baby with Down syndrome resulting from nondisjunction or mosaicism.  However, due to higher birth rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age.

There is no definitive scientific research that indicates that Down syndrome is caused by environmental factors or the parents’ activities before or during pregnancy.

The additional partial or full copy of the 21st chromosome which causes Down syndrome can originate from either the father or the mother. Approximately 5% of the cases have been traced to the father.

How Likely is it to have a Child with Down Syndrome?

Down syndrome occurs in people of all races and economic levels, though older women have an increased chance of having a child with Down syndrome. A 35 year old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40. At age 45 the incidence becomes approximately 1 in 30. The age of the mother does not seem to be linked to the risk of translocation.

Since many couples are postponing parenting until later in life, the incidence of Down syndrome conceptions is expected to increase. Therefore, genetic counseling for parents is becoming increasingly important. Still, many physicians are not fully informed about advising their patients about the incidences of Down syndrome, advancements in diagnosis, and the protocols for care and treatment of babies born with Down syndrome.

The Impact of Down Syndrome on Society?

Individuals with Down syndrome are becoming increasingly integrated into society and community organizations, such as school, health care systems, work forces, and social and recreational activities. Individuals with Down syndrome possess varying degrees of cognitive delays, from very mild to severe. Most people with Down syndrome have cognitive delays that are mild to moderate.

Due to advances in medical technology, individuals with Down syndrome are living longer than ever before. In 1910, children with Down syndrome were expected to survive to age nine. With the discovery of antibiotics, the average survival age increased to 19 or 20. Now, with recent advancements in clinical treatment, most particularly corrective heart surgeries, as many as 80% of adults with Down syndrome reach age 60, and many live even longer. More and more Americans are interacting with individuals with Down syndrome, increasing the need for widespread public education and acceptance.

See more at: http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome