Trisomy 21 - Down Syndrome

When I started this series on the various trisomy genetic disorders, I knew this day would come. How does one even attempt to summarize Down Syndrome in a short blog post? I'll start with the disclaimer that none of my primers are intended to be all-inclusive. They're just a starting point to begin to familiarize the public at large with conditions that sometimes are quite rare and unknown. Down Syndrome doesn't really fit the unknown category, but it may fit the misunderstood category. People may think they know what Down Syndrome is, but have some serious misconceptions mixed in with their facts. My hope is this primer will make you want to learn more. Down Syndrome doesn't really fit the rare category either. Trisomy 21 is the most common single cause of birth defects, and occurs in approximately 5 of every 10,000 births. The condition is named for John Langdon Down, who described the condition in 1866. Dr. Jerome Lejeune linked Down Syndrome with an extra copy of Chromosome 21 in 1959.

Like all trisomy disorders, Down Syndrome occurs when there are three copies of one chromosome (Chromosome 21 in this case) or part of a chromosome. You can look at my general post on Trisomy to learn how this happens. It is an entirely random genetic mutation that cannot be prevented. Genetic counseling is advisable for people who have a family history of Down Syndrome, women above the age of 35, or parents who already have a child with Down Syndrome. Trisomy 21 can be diagnosed prenatally. Screening tests may indicate a higher risk for Down Syndrome and more conclusive diagnostic tests such as amniocentesis can confirm the diagnosis. These tests may carry risks of their own which should be considered carefully.

Each individual with Down Syndrome will be affected differently, but there are several common characteristics, including:

• decreased muscle tone
• single crease in palm of the hand
• cognitive delays
• impulsive behavior
• short attention span
• heart defects - atrial septal defect or ventricular septal defect
• eye problems - cataracts, corrective lenses
• gastrointestinal blockage - esophageal or duodenal atresia
• hearing problems
• narrow airway - sleep apnea

With improved medical treatment options, the average lifespan for individuals with Down Syndrome is nearly the same as normative peers. With early intervention and supportive family, individuals with Down Syndrome can graduate from high school, attend college, and maintain productive careers. Finally, I think I've shared this before, but I want to emphasize that each individual has something to contribute to society, and we have more in common than we may think. Please watch this short video by a young man with Down Syndrome and his parents. It is well worth your time.


Additional resources:

• PubMed Health - clinical description
• National Down Syndrome Society - especially this page
• National Down Syndrome Congress
• DownSyndrome.com
• Praying for Parker - especially this post

Y is for Yellow

My daughter knew her colors long before she could talk. "Bring me the yellow ball, Sweetie," and she would go get the yellow ball choosing among perhaps four or six other colors. It wasn't a big surprise to me, then, that when she did start adding words to her vocabulary (well after age 2) that among the first words added were colors, or her version of colors. For a long time she called orange "juice", but this post is not about orange, or juice. Yellow was among the first ten words that she could say. At the time I just thought she was so smart to know her colors already (and she is smart, don't get me wrong) but I had no idea that it was atypical for a child to add adjectives to their vocabulary before nouns. There is a reason that normal speech develops nouns first...

Yellow was clearly one of her favorite colors, too, so we often bought toys and trinkets that were yellow. A yellow ball, a yellow chair, a yellow helicopter, a yellow plane, a yellow plate. Yellow is also one of my husband's favorite colors, so there were already a good number of yellow objects in our home. Our four main rooms are various bright shades of yellow with white trim. If it were a submarine, you could break into a Beatles song here. It's a nice cheery, energizing color, and we all enjoy it.

The only problem was that my daughter started asking for things by saying "yellow" instead of using the names of the objects, since she didn't know those yet, or at least couldn't express them yet. This was a step up from the previous phase in which she would walk around imitating a fire engine siren. "Ah-uh-ah-uh-ah-uh-ah-uh..." meant "I want something." And because she might not indicate by pointing or gesturing what exactly she wanted it was a bit of a guessing game. Our theory is that she heard the sirens going by our house (we live on a fairly busy intersection) and she knew that we always paid attention to the sirens, so she figured that she would make that noise whenever she needed our attention. It worked, but it got old.

"Yellow" got old, too. Which "yellow" did she want? Was it the circle from the shape sorter (one of her favorite security objects) or the ball? The plate perhaps, or maybe the car? If we guessed more than a few objects wrong we were headed into tantrum territory, and there were probably twenty objects to choose from. I became an expert at the guessing game, using who knows what subtle cues and routines to figure out what "yellow" was wanted now. I also stopped adding yellow objects to the collection. Favorite color or no, this was becoming ridiculous.

This guessing game was one of the reasons I decided not to just listen to the doctor who was telling me not to worry, that she would start talking soon enough. "Some kids just talk later." Fine, but when you're seeing frustration because of the communication gap, that's a sign there's something wrong. Without really knowing what I was doing, but by pure grace getting at least pieces of it right I started spending a good chunk of each day trying to help my daughter add words - nouns especially - to her vocabulary. We spent a year in this mode until I went even further beyond the doctor's advice and sought a speech evaluation from our school district.

And so she taught me, early on, to listen to her more than I listened to any expert. She taught me that frustration can be a great motivator, and that there are subtleties to communication that most of the world takes for granted...when the system is challenged we value anew how truly miraculous it all is.

Yellow is still right up there with the child's favorite colors. When most girls her age prefer pink and purple she still often chooses yellow. It always brings back now fond memories of the early days when yellow really meant everything to her.

I am linking this post with Jenny Matlock's Alphabe-Thursday blogfest. Go here to see all of the other creative posts starting with the letter Y. And many thanks to Jenny for hosting.