Tuesday, December 2, 2008

And now a Public Service Announcement (PSA)

My post from yesterday has prompted some comments and email asking specific questions about Down Syndrome. So here's the skinny:

Down Syndrome is a genetic defect. What this means is that it just happens. It does not have anything to do with what a person may or may not have done while pregnant. Down Syndrome occurs while the chromosomes are dividing and instead of duplicating the 21st chromosome triplicates thus the name Trisomy 21. This happens approximately 2 hours after conception. There are three types of Down Syndrome but Trisomy 21 is the most common - again it simply happens. There is nothing wrong with the father or mother's chromosomes - it is a fluke - a sticky gene. After Alex's birth we underwent extensive genetic studies and what they found was - it just happened - it was a fluke. There was nothing in either of our genetics that would have made me more pre-disposed to have a baby with Down Syndrome - again, it just happened. They told us to go out and have a dozen more kids and it would probably never happen again (two more was enough for me :-))

I was not an "advanced age mother" in fact I was under 30 (I bet you thought I was going to screw up and reveal my age didn't you - NOPE). More babies with Down Syndrome are born to mother's under 30 but that is because the number of women having babies in that age range is greater than those having babies over 30. BUT, statistically, the older a woman is the more likely she is to have a baby with Down Syndrome. 40 is really the big turning point. It has something to do with aging eggs and all that hormonal stuff (although there is one theory that as we get older our bodies ability to recognize a problem and miscarry becomes less accurate).

As for the 21st chromosome - although it is not a life threatening chromosome the 21st chromosome controls develoment - all types of development from how smart a person is to how tall they will be to how big their ears or eyes or feet or head may be. So when the 21st chromosome is triplicated it alters the development of the person - all development - and as with all members of the human race there are varying degrees of impairment. Alex's degree of mental impairment is mild to moderate depending on the task. His self-help skills are close to age appropriate but his speech delivery is low. His other skill areas are somewhere in-between. They call this scatter skills since he is sort of all over the place - this is very common in Down Syndrome.

So there you go. All you wanted to know about Down Syndrome and more :-) And I don't mind the questions. It doesn't offend me at all so if there is anything else you may want to know bring it on.



Amy said...

Such details from a non-detailed person! Love ya.

Amy said...

I meant that in a good way in case there was in doubt. Seriously.

Wendy said...

That was the best explanation I've ever heard...Amy do you know Angie well?! Non-detailed....Hmmmmm...I think Angie's been pulling your leg...Or she's trying to hide her detail orientation behind her age again! :-)