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Thursday, March 25, 2010


I had a voice mail from one of the physicians in my OB practice yesterday afternoon requesting that I call him 'to discuss some stuff'. I knew what this meant, even before I returned the call. I knew what it meant the minute I saw the number on the call history on my cell phone. It meant that there had been some kind of 'hit' on the first trimester screen that we had done last Monday.

We are essentially right back to where we started with Gracie...the screening showed the odds of Jellybean having Down Syndrome to be 1 in 39. Again, it is just a screening, but this screening is becoming to be more and more accurate...to the point of being about 90% accurate in detecting DS. My OB had me talk with the Maternal Fetal Medicine group from Harrisburg that sees patients in our OB office twice a month; ultimately, I ended up talking with a genetic counselor for quite some time yesterday evening and this morning.

Our concern at this point is not really whether or not Jellybean has Down Syndrome, but getting to the bottom of the underlying issues (assuming that Jellybean does have DS...and assuming that the 99% certainty that Gracie had DS is correct). Once you have a DS baby, the odds of having another rise to 1%. Many second cases are simply flukes, but many are actually genetically predisposed. (I know that this may seem kind of obvious, but for further explanation of what I'm trying to say please check out Translocation Down Syndrome.) The genetic counselor's main concern at this point is helping us determine if one of us is carrying a chromosomal translocation that potentially predisposes our children to Down Syndrome.

The first step in her 'plan' is determining whether or not Jellybean has DS. In order to do this, she initially wanted us to have chorionic villus sampling done to determine the presence of DS. For several reasons, this would have to be done tomorrow or Monday, and we would have to travel to Harrisburg to have it done at their main office. We can get the same information from an amniocentesis, the risk for lost pregnancy is less with amniocentesis, and we could have an amnio done in Lewisburg instead of Harrisburg. So...CVS was immediately ruled out. We are still on the fence about the amnio. I really don't want to do it, but I honestly don't think I can wait until September or October to have answers to all of this. The plan at this point is to schedule the amnio now, simply because it won't happen for another 2-3 weeks anyway. That gives us time to talk to more people and gather more information. If we get information that seems positive and encouraging, we can always cancel the amnio.

I posted some questions on a couple Down Syndrome forums today, and one of the mothers suggested that Jeff and I have chromosomal analysis done without doing the amnio. If one of us tests positive as a carrier for a translocated chromosome, we can pretty much just assume that Jellybean does have DS. I like this option MUCH better, but I am already in the middle of a power struggle with my insurance and I suspect that the genetic testing may not be covered without the supporting affirmative diagnosis of Down Syndrome via CVS or amnio. But it is certainly worth investigating, especially if there is a chance that I can prevent a big, fat needle from being stuck into my belly.

So that is where we are...for now. Not really where we want to be, but there are certainly worse positions to be in. Updates to follow as we have them...


Maggie said...

I hope you are able to find some more information that you need. Keep us updated, thinking of you lots! (((HUGS)))

jamie said...

Oh I am so sorry you are back in such an emotional situation. It sounds like you have a solid plan though.

Now forgive me if this is a silly question, but if they do confirm DS from an amnio - is there special precautions taken during pregnancy and after birth for the baby? I can 100% agree with your need to know, even for the simple reason to be able to prepare for the future.

Lots of love and warm wishes

Bree said...

oh, susan. this is heartbreaking. i'm sorry that you guys have to go through this. i'm praying and pleading that everything is okay with jellybean. xoxo

Megan said...

Hey have you read this blog??


She has a baby girl with DS and talks a lot about how she feels and how she has dealt with everything. They had no idea prior to her baby Nella being born. She is great with words and might provide some inspiration for you. Please read this part first if you are interested: http://www.kellehampton.com/2010/01/nella-cordelia-birth-story.html

*hugs* I'm sorry, I know you guys are probably so stressed right now. I vote no on the CVS like you said and yes on the amnio. I had an amnio with Grace and everything went fine. There are risks though and if you are nervous then I'd say go with the genetic testing for you two to see if you have translocation. Our amnio last time showed if it was translocation or not.

Anonymous said...

*hugs* I am sorry that there are so many questions. Praying that you get the answers that you need.

Supposed to be... "Mama G"... said...

Oh my, our thoughts and prayers are with you. I have a good friend, who has a little boy with downs. He is the CUTEST little fella you have ever met, and has a spirit that is just full of love. They didn't discover that he had downs until 37 weeks gestation when they discovered holes in his heart and bowel issues. He is so tough and very resiliant, just like you and your little jellybean! Stay strong, we're pulling for you here in Canada! You will make the decision that is right for YOU! <3

Anonymous said...

my prayers are with you.

Tina said...

I am so sorry you are having to relive all of this. I follow the blog that Megan mentioned above and she sheds a beautiful light(while still being realistic) on having a baby with DS. I don't have much advice to offer, but I do have a friend that recently had an amnio and she said it wasn't painful and it really wasn't a big deal. You are in my thoughts. xx