Down Syndrome 101

Here we are at Day One! I'm seriously not an expert in genetics or biology (though I've always found it interesting), but I think I can do a good enough job to explain it (do any of us really remember that stuff from Bio 101?). It's easy to get mired down in all the technical language, so I'll try not to go into immense detail so there's less verbage to have to explain - here it goes:

What is Down syndrome?

*We all have 23 pairs of chromosomes (genetic material) - we got 23 from our mom & 23 from our dad. That's 46 altogether and they make up every cell in our body and determine the unique arrangement of our cells. This arrangement determines our own unique look, how our body functions, and even our unique cognitive abilities.

*For those with Down syndrome, there is an extra chromosome (genetic material) on the 21st pair. Instead of 46 chromosomes, there are 47 altogether. Here's a karyotype of someone with Down syndrome that shows all 23 pairs of chromosomes lined up together (the 23rd being the one that determines gender):

Notice how all the pairs have two lines of chromosome material. For you and I, each numbered section of DNA would have only two chromosomes. But the karyotype above is from someone with Down syndrome - look at the 21st pair at the bottom: there are three. The presence of this 3rd chromosome on this pair is proof of Trisomy 21. Every newborn suspected to have DS has a karyotype done like this (even Grant!). When there is an extra chromosome on a different pair, it's a different type of syndrome - but as I mentioned before, over 95% of people with DS have Trisomy 21. It's the most common and the most survivable chromosomal disorder. When I talk about Down syndrome, I'm pretty much only referring to Trisomy 21 and I may use these terms interchangeably.

Why is it called Down syndrome?

It is named for an English physician, John Langdon Down, who was one of the first to publish an accurate description of a person with Down syndrome in the late 1800's. Others had recognized the characteristics, but he was the first to describe the condition as it's own separate entity.

More Stuff:

*Down syndrome is an all-or-nothing thing. A person doesn't have a 'mild form' or 'extreme degree' of DS; they either have it or they don't. The extra chromosome does present itself in way unique to the individual, but you either have that extra chromosome or you don't. In some, the physical characteristics are more obvious than others and mental abilities will vary. Also, there is no connection between the number of Down syndrome features person has (obvious or not) and their mental abilities.

*Down syndrome occurs in roughly 1 out of 800 pregnancies. It occurs across all ethnic and socio-economic groups.

*Maternal age does influence the chances of having a baby with DS (age 35 being that "magic" number that doctors used to throw around) - but - there is no magic spell that happens when you turn 35 and - poof - you'll all of sudden more likely. The chances exist during your twenties, increase a bit more during your thirties, and then there is quite a jump in the likelihood past 40. Though probability increases with the mother's age, the majority of babies with DS are born to mothers under 35 - I was 23 years old. (Basically, this isn't something that occurs only to 'older' women, though it may appear that way in the numbers because fewer total babies are born to women over 35 compared to the under 35 crowd - clear as mud?:)

*You may wonder then why there aren't more people you see walking around with DS if it doesn't occur as rarely as you thought...that's because well over 90% of parents that discover Down syndrome in-utero terminate the pregnancy (partly due to earlier testing and recommended testing now for all women regardless of age). More of my "thoughts" on that later.

*Lastly, the presence of that extra chromosome occurs at conception. You cannot cause Down syndrome - neither can you prevent it. Scientifically speaking, it's a random event. (We once spoke with a girl that was pregnant and also had a seizure disorder. She said she was worried about seizures during pregnancy because her doctor said it could cause Down syndrome...um, no.) Let me repeat it again...there is no way to cause Down syndrome - it is no one's "fault". It's just the way the chromosomes split and it happens the first second after sperm meets egg - the baby already has Down syndrome before the mother even knows she's pregnant. Along the same lines, Down syndrome is not something that can be cured or 'grown out of' - having that extra chromosome is something that cannot be changed - but the effects of that extra chromosome are what vary from person to person.

* * *

Though you can get some solace in knowing that neither mother nor father did anything 'wrong', being a person of faith is very helpful at times like this. Though I know scientifically it was completely random, I also know it wasn't a punishment from God (the God I believe in would not use children as punishment anyway). While the news was very shocking and devastating at first (to say the least), I know in my heart that this is how it was meant to be. Instead of continuing to wonder "why did this happen to us?" we learned very quickly that we were lucky - lucky to be entrusted with such a special spirit and that he was given to us as a blessing. We now take it as a huge compliment from God! Though the medical community would call it random - or a fluke maybe - I know God doesn't make mistakes. He sent us Grant for a reason. The science of it all may lend some answers, but the spiritual part of it lends the peace, understanding, and even appreciation of it all.


Bravo, we made it through Day 1! *Next up: Physical Features