When Everett was a few hours old, the hospital pediatrician said he had some soft markers for Down syndrome and wanted to test him. The waiting period was some of the hardest days I’ve lived through. After the diagnosis, I had so many questions. I read, I learned, and there is so much that I didn’t know that I am guessing you don’t either. Here are the “big hitters,” if you will, that I think everyone should know.
What is Down Syndrome?
Down Syndrome is a genetic disorder where a person has 3 copies of chromosome 21 instead of two. There are three different kinds of Down syndrome, depending on how and where the third copy is located. Trisomy 21 is the most common (95%) and means that every cell in the 21st chromosome is copied. Translocation (3%) is where the third copy (full or partial) is attached to a different chromosome. Mosaic (2%) is where some cells of the 21st chromosome have three copies and some have two. The type of Down syndrome a person has does not indicate anything about their life. There is no spectrum, one of these is not mild and another severe.
Why is it called Down syndrome?
This is important. The naming of this genetic disorder sets such a negative tone but that’s not why it’s named that! John Langdon Down was a British physician who studied individuals with common characteristics at an asylum in London. In 1866, he was the first to describe the commonalities between people there in what is now a syndrome named after him. It was not until 1959 that the chromosomal abnormality was discovered but the name Down stuck.
The first thing I am often asked (if the person feels comfortable enough to ask) is if one of us has Down syndrome in our family. Only 1% of all Down syndrome cases are actually hereditary! Anyone can have a child with Down syndrome. Odds do increase as the mother ages, but more babies with Down syndrome are actually born to mothers younger than 35. My own odds at 31 were 1 out of 819. The overall average in the US is 1 out of 700 births.
Everyone with Down syndrome is just like everyone with 46 chromosomes. We all have different abilities and we all have things we struggle with. Yes, Everett will have to work harder to reach milestones, but he can still reach them! I will never run a 6-minute mile, does that mean I am worth less as a person than someone who can? Hell no! Someone with Down syndrome may have delayed speech, delayed mobility, a heart defect, and other health issues, but so could any baby with 46 chromosomes.
This one absolutely breaks my heart but I desperately need you to know this. Entire first world countries think they are doing the world a service by terminating pregnancies with Down syndrome. How would you feel if entire nations thought your child wasn’t worthy of life because they were different?? What if your NIPT results could indicate your baby will be left handed and they will struggle to fit in a right-handed world? Is that grounds to terminate the pregnancy because the majority think right-handed is better? Because you’ll have to hunt harder for a baseball glove? What if Iceland thought anyone with red hair shouldn’t live? Blue eyes? Shorter than 5’5”; taller than 6 feet? I mean come on; Iceland, Denmark, the UK, France, and the US are using fear to convince families their children aren’t worth it. Everett has brought so much joy to our life. Yes, he has 47 chromosomes, but he’s a person first!
This goes along with the previous two points. Did you know that people with Down syndrome had a life expectancy of 10 years old in the 1960s? Today it’s over 60. Do you know why? Because today, babies born with Down syndrome are not taken from their families and institutionalized because of “their poor quality of life.” It took until 1984 for a bill (Baby Doe Rules) to be passed that declared it abuse to not give life-saving surgery to a baby born with congenital birth defects.
We’ve come a long way in the last 60 years but did you hear about Baby Zion this past October? He was born with Down syndrome and a congenital heart defect in June 2021. After 5 open heart surgeries, it was determined he needed a heart transplant. He was denied and passed away at 16 weeks old. One doctor said “it would be a waste of heart.” Can you imagine being told your child doesn’t deserve to live?
There are two main things I want you to take away from this post. The first is that Down syndrome is nothing scary. People with Down syndrome are not that different and are most certainly worthy of life. The second is that I want to encourage you to ask questions. We were brought up not to stare at those that are different so we look away. But what if we learned about them? Ask me about my son’s Down syndrome. Ask me how things are going. What “early intervention” looks like. Ask the person who looks different than you how their day is going. We are all created in God’s image. He made everyone to be exactly as they are. How much more valuable and worthy of life can a person be if they are already that in God’s eyes?