Thursday, October 8, 2009

UPDATE: Down Syndrome Awareness -- Editorial by a Mom of Identical Twins with Down Syndrome

The latest statistic I've heard is that Down syndrome occurs once in every 733 births... though identical twins with DS is a bit less common. Still, that's down from the 1 in 800 stat that I've seen quoted most often, that hadn't changed for years until recently. I think that number is dropping lately though because the early diagnosis of Down syndrome via in-utero testing results in the termination of more pregnancies... More fetuses with Down syndrome are being aborted. I've heard that 92% of all fetuses prenatally diagnosed with Down syndrome are terminated.

I don't necessarily think this is a good thing. I cannot imagine terminating Brian and Michael because of their Down syndrome... which has had such a mild affect on them, in fact!

I'm not sure what the goal of this in-utero testing is exactly! In theory, I understand it's an attempt to inform expecting mothers so that they can make a choice... To prepare for or terminate what the world considers a less-than-perfect child.

God help us if we're not all perfect! Right? In truth, I have yet to meet a perfect human being!

I get the concept of preparing for a child with special needs though I chose to fore go the pretesting. Pregnancy can be emotional and challenging enough without adding any additional stress! Besides, personally, I think you need to prepare the same for any and every baby... hoping and praying for good health but accepting of whatever child you are gifted -- girl or boy, big or little, early or late, singleton or multiples, healthy or unwell, 46 chromosomes or 47 (Down syndrome). Then, you deal with the curve balls. There's no way to know in advance of their life outside the womb what any baby -- any child -- will specifically require. So, you love and nurture and provide whatever medical and educational attention is necessary for your child at birth and throughout their lives. Isn't that the truth for each and every one of us and for every one of our children... disabled or not? Unless you choose to put your "less-than-perfect" child up for adoption -- a valid choice for some (and please know there are countless parents waiting with baited breath to specifically adopt children with Down syndrome) -- there's no way to know how any of this will actually turn out with or without a prenatal test that is positive for Down syndrome!

But, let's look at the flip side of the choice that prenatal testing gives the expectant mother. Terminating a fetus because it's diagnosed with Down syndrome, to me, is sort of like playing God, or Hitler, or Russian roulette. Sorry, this one's not good enough for us. We'll go ahead and take our chances... pull the trigger again. To be honest, in the realm of potential disabilities, Down syndrome is a breeze and occurs less often than others that can be more challenging and, dare I say, less rewarding. Still, if this notion of trashing this one for the next is ok with you (it's not with me), the world will still never be rid of Down syndrome... though PERHAPS it won't occur in your family. Or, will it? Maybe the next fetus will be diagnosed with the same... who knows?

Unless every fetus conceived is tested in utero -- not likely to happen -- AND, every in-utero diagnosis of Down syndrome results in termination -- also not likely to happen -- thankfully, Down syndrome will always be a part of this world! Because Down syndrome occurs naturally in our world! And, because people like me who not only choose not to test because I wouldn't make a decision to terminate based on results indicating a diagnosis of Down syndrome... But also because I wouldn't terminate if I did receive this diagnosis for a pregnancy -- a baby -- I purposely pursued and wanted!

My daughter's Kindergarten teacher used to say, "You get what you get and you don't get upset!" Good advice. Though my daughter loves the color green, there's no guarantee when the chatchkies are being handed out that she's going to get the green one. She has to take and be happy with the chatchke she gets. Same goes for babies.

Yes, Trisomy 21/Down syndrome occurs naturally throughout the world in approximately 1 in 800 births (medical termination is not natural). The 21st chromosome accidentally triplicates itself, instead of only duplicating itself, and then the replication of this triplicated chromosome repeats over and over again in each cell as the fetus develops. Occasionally, the "mistake" naturally reverses itself in the process of fetal development and the 3rd 21st chromosome is accidentally not copied such that all cells going forward from that point have only 2 21st chromosomes which results in Mosaic Down syndrome. Still, thus far, medical science has not been able to identify when the triplication is going to occur, keep it from happening, nor correct it once it has happened. Is it possible that some day medical technology will find a way to do these things? Sure, any thing's possible... But, personally, I hope it doesn't come to that. I think the world is a better place because there are people with Down syndrome in it! I KNOW my life -- and this world -- is definitely better for the presence of Brian and Michael... just the way they are!


  1. I'm with you on those last sentences. Actually the whole post is great, as usual.I really enjoy visiting your blog.

  2. What a great post. I think though that the number dropping is a good sign that more people are choosing life. Here is the way I look at it... if Ds occurs in 1 of 733 births that is better than 1 in 800, or 1 in 850, or 1 in 5000. Imagine if it got down to 1 in 500, or 1 in 200... there would be so many more children with Ds here.

    What I would like to know is how many pregnancies occur overall with children with Ds. To know that we would need an accurate number of abortions for Ds for a couple of years. Then we would know just how common Down syndrome really is.

    What I find interesting is that in my recent poll that had 227 responses, about 1/3 of babies with Ds were known or suspected in the womb to have Ds. The other 2/3 were surprises, although that would include many people who declined testing because it wouldn't change their decision to have their baby. I would also be interested in knowing honestly how many of those surprises wouldn't be here if there had been any indication during routine exams...

    Those two sets of missing numbers would give us a clearer picture of the real percentages of abortion. I am bothered by the 92% # because it is so misleading... it makes it sound first of all like 9 out of 10 babies with Ds are aborted when really it is only 9 out of 10 babies with Ds diagnosed prenatally. Still that sounds bad and it doesn't take into account the % who decline testing because they don't care... Those parents should be counted as "prenatally diagnosed" because they were serious about their decision. I am in the 8% that knew but went forward, you are in the ? percent that didn't care to know and went forward. We are the same in our views and should be counted as such. If we were, I'd bet that number would go up to about 20 or 25%, or even higher for those who chose to go forward regardless.

    Btw, do you have any idea how rare it is to get identical twins with Ds? I only know of you and one other family. Looks like your boys are probably 2 in a million! :-)

  3. Ditto! Preaching to the choir here! I guess some folks like to think they have control over the uncontrollable?