Monday, February 9, 2009

It Was Only A Matter of Time

It's probably never a good thing when your OB calls at 7:00 at night to talk to you about your test results. Good results are calls from a nurse and can even be left as a message. The doctor only calls when something is obviously going to involve lots of questions and medical decisions and unfortunate consequences.

My screening test results came back positive for Down's, Trisomy 18 and Smith-Lemli-Opitz Syndrome. While I'm sure most people have heard that the testing for Down's carries a high false positive rate, the SLOS has an almost non-existent false positive history. SLOS is a combination of severe mental retardation and congenital malformations. Basically, it sucks. So does Trisomy 18, with less than 10% of babies who manage to be born surviving to their first birthdays.

The fact is, I'm old. My eggs are old. My husband is old. This baby was old even before conception. And the thing is, old is not good in the world of reproduction. I thought I just had to actually get pregnant, that if I could just manage to have an ultrasound with a normal heartbeat everything would be fine. But at forty years old it's just a fact that things are likely to go awry. I thought I was lucky to get one embryo that made it, but the odds are the others tanked because of chromosomal issues, and this one just happened to have the kind of anomalies that don't cause immediate demise.

We'll do the amnio Wednesday. I don't even know how long it takes to get results after that, but I suspect it will be longer than I would like. Meanwhile, constipation seems like the least of my problems.

ETA - Thank goodness for bloggers like Amber, who has been through this and tried to sort out all of the info about these various results for those of us who are desperately googling "SLOS screen positive" and reading nothing but dire pub med articles. Basically, she had almost the same kind of quad screen results I have, and her amnio was normal. I may not end up with the good news she got, but at least I have a little bit of hope now!

10 comments:

Nikki said...

Oh my goodness - I'm sorry the results were not what you (or any of us) expected. I don't know what to say - I just want to give you huge hugs and send you some calming patient vibes. I'm going to pray real hard that the amnio results come out normal and nothing is wrong.

Hugs to you - hang in there. I know it's hard, but try and stay as calm as you can!

PJ said...

Oh Lorraine! How deeply my heart goes out to you! I can only imagine what you are feeling right now.

Much love.

Shelby said...

Lorraine, I'm so sorry to hear this. I can only imagine how hard this must be, especially the wait associated with it. I really hope that the amnio wait goes as quickly as possible and that the test results are what you were hoping for. Take care.

Sarah said...

oh boy, you sound so calm about it in your post but i'm sure this must be extremely hard. i have also seen several bloggers go through positive quad screens and have a perfectly fine amnio, although i don't know anything about SLOS. i don't think you can get too bogged down by the odds at over 40 though. it's true the risks go up, but the vast majority (around 95% i think) of infants born to 40 yo moms will be completely fine.

i'll be thinking of you and hoping for the best!

my3sons said...

Just wanted to add that I follow many blogs of Tri 13, 18 moms and they are usually young! I think the ones I follow are under age 30! Good luck with the amnio!

Claudia said...

Oh no, this is not what you wanted to hear at all. Hope the wait time passes quickly and you have answers soon - and good answers at that.

Midlife Mommy said...

Hoping and praying that you get the answers that you want. Hugs.

Lost in Space said...

I am so sorry you are going through all this, Lorraine. Definitely not what you expected to hear I am sure.

I will keep you and your little one in my thoughts and prayers that the amnio goes great and the worries were all for nothing. Huge hugs, hun.

Sky said...

Oh NOOOOO Lorraine! I can't even believe it.

There really isn't anything I can say other than I'm crossing my fingers that the Amnio will prove these results wrong.

Hugs (I know you need 'em).

Lisa DG said...

I don't even know what to say. This is terrible and I didn't even think for a moment it would go like this. I am so sorry!