World Down Syndrome Day is less than a week away! It’s amazing to me to see how this day of celebration has grown and evolved over the past few years. And heartwarming to see that people can actually celebrate it, instead of being ashamed of it. When we started on this journey 10 years ago this week, I knew very little about Down syndrome. I knew a couple front-service clerks at Publix with Ds, but had no idea what their lives were like. Since that time, I’ve learned so much, and keep learning new things all the time.
One of the first things I learned was that Down syndrome can happen to anyone. Rich or poor; black, white or yellow; educated or not; faith-oriented or not…Down syndrome is all-inclusive in its selection process.
Another basic fact is that there is not just one type of Down syndrome. There are actually three! Trisomy 21 is the most common, when prior to, or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. Trisomy 21 accounts for 95% of cases of Ds. Translocation Ds occurs when the total number of chromosomes in the cells remains 46; but an additional full or partial copy of chromosome 21 attaches to another chromosome. The presence of the extra full or partial chromosome 21 causes the characteristics of Down syndrome. Translocation occurs in about 4% of people with Ds. Mosaic Ds is the final type, accounting for just 1% of people with Ds. This occurs when there are some cells with 47 chromosomes, and some with the “typical” 46. It can be important to know which type the individual has, and so Caleb was tested at birth with a “Karyotype” - a test to “identify and evaluate the size, shape, and number of chromosomes in a sample of body cells”, and was determined to have Trisomy 21.
Whatever type it is, Down syndrome affects individuals globally – increased chance of having associated conditions (heart, intestinal, hearing, optical, etc.) Parents are encouraged to use a pediatrician well-versed in Down syndrome, in order to know what to look for, and be able to refer to specialists as needed. Cognitive function is considered below average on standard IQ tests. But those of us who know people with Ds know that they have many other gifts that tests don’t show! Physical skill development is usually affected (motor-planning), and so babies and children are encouraged to see therapist to work on skill progression. When he was little, Caleb saw four different therapists, named below.
- Physical Therapist-working to help him with gross motor development. Beginning with lifting his head, to rolling over, sitting up, crawling…and finally (3 year later!) WALKING! Climbing, jumping, and running are also skills that PTs can help with.
- Occupational Therapist-working to help with fine motor skills. Pushing, pulling, holding utensils, eating, writing, tying shoes, typing, hand strength development, even sign language, etc. are all under the OT umbrella.
- Speech Therapist-this is typically the “biggie” for our kids. Speech is hard. It requires lots of motor planning, and some knowledge of what words mean. Kids with Ds typically have smaller mouths, and can have larger tongues, making it harder all the way around to produce good, clear speech.
- Infant/Toddler Development Specialist (ITDS)-this person oversaw all of the above for Caleb, as well as social/emotional development. How was he interacting with peers? Was he showing emotion? Could he read cues for engaging with people?
How common is Ds? Some statistics quote 1/700 live births are individuals with Down syndrome, others say that is overstated, based on new prenatal testing. Regarding of the exact numbers, Down syndrome is the most common chromosomal condition. According to studies by Dr. Brian Skotko et al, there were approximately 206,000 people with the condition in the States in 2010. Prenatal testing has proven to be more accurate and can be done much earlier in the pregnancy than previous, which has led to, unfortunately, more terminations. Getting valid, up-to-date information about a life with Down syndrome to doctors and staff is critical.
Why is it called “Down syndrome”? The name happened as a result of a physician, Dr. John Langdon Down, who was actually the first person to realize that there was a group of people who had similar features and characteristics. Features such as: a smaller head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and sloping underchin were among those included in his descriptions. In the mid-1800’s, he had worked in an institution where a number of these individuals resided. As his papers were published, and noticed, the medical world began to use the term “Down” syndrome to describe these folks, and the name stuck. As an aside, I love the article Mark Leach has written in recent years, bemoaning the fact that his name was Down, and not Amazing ☺
What’s the life expectancy of someone with Ds? When I was in college (way back in the 1980’s), people with Down syndrome were not expected to live much past their mid-20’s. This was prior to advancements in medical treatment, especially in the treatment of heart conditions that up to 50% of people with Ds can have (or more). Thankfully, medicine has progressed, and now, individuals are living into their 50s, 60s, and even older. I posted just last month the oldest man on record with Down syndrome celebrated his 77th birthday!
These facts are just the tip of the iceberg, as far as information about Down syndrome. There are many terrific resources online to refer to. Both NDSS and NDSC have pages dedicated to information about the condition. Local support groups often have educational sessions, and staff on-hand to help with questions. Facebook also has a number of great groups with topics related to Down syndrome. I hope you might have learned something new today. Please celebrate with us on March 21st the fact that people with Down syndrome are, indeed, AMAZING. We don’t need a doctor to figure that out for us.