One day at a time

I dont know how this post will be because I am emotionally exhausted.  I think is the kind of thing most people probably keep to themselves at this point, or at least until they have answers one way or another but we've been a pretty open book until this point so why start now?  I also feel like we have pretty amazing family and friends and support and prayers would be nice to have while we walk through this...

We received a call Friday afternoon while I was moving the kids' rooms around from Kaiser Genetics. My quad screen, which was completed this past week and combines ultrasound results with blood tests, came back with pretty abnormal results and when all is taken into account our baby girl has a 1 in 4 chance of having Down Syndrome.




Down Syndrome.   1. In. 4.










Yeah I know, I know, that's a 75 percent chance she doesn't have it and blah blah blah. Not really comforted.

If it isn't Down's, there is a possibility of something else being wrong like a heart or spine defect that is screwing up the labs. Or there is a possibility she is totally fine and it's all screwed up because....?

Trying to remind myself that at Max's anatomy scan they measured wrong and thought he had a major spine defect and we freaked for a day before they said he was fine..not the same situation but maybe it will be something like that....maybe...

Our options are do nothing and wait, do an amniocentesis to find out for sure (but comes with a risk of miscarriage), or do an NIPT blood test, which takes about 10 days to come back and can give us about a 98 to 99 percent idea if she does have DS or not. So it's not a definitive answer, and you are still left with a sliver of doubt the rest of the pregnancy, but it gives a pretty good idea and there are no risks. It will also tell us if she is, in fact, for sure a girl...

We aren't willing to risk her life to do the amnio.  The chances are pretty small that something would go wrong but the chance is there and we aren't willing to risk it.

So I will go in on Tuesday, soonest they could get me in, and get the NIPT test and they will do a long detailed ultrasound to see if they see any heart or spine defects and/or physical markers for Down's.  The ultrasound will have to be repeated again at 18 and 20 weeks because they won't be able to visualize everything at 16. She also said 50 percent of DS babies don't show any signs on ultrasound anyway....we'll see I guess. And then we wait for the NIPT results and then go from there.

I'm going back and forth from numb and on autopilot to freaking out. Trying to stay hopeful but also realistic. Terrified of what this could mean for us, for Ella and Abby and Max. Our future. Her future. Terrified that it's Down's.  Terrified that it's not Down's and it's a horrible physical defect. Praying. Wondering just how much more we can handle. Wishing the days would hurry up and go by faster.

We just need her to be ok.