Monday, January 23, 2012

27w4d and not so good news...

Bit of backstory first.  We did the Early Risk Assessment at 11w4d.  Bloodwork came back normal (risk of Down's syndrom in the 1:1000 range, trisomy 13/18 in the 1:3000 range), NT measurement was good, but they couldn't visualize the nasal bone, which is a soft marker for Down's.  So we had another scan 10 days later, at which everything fortunately looked good, and so our risk of Down's decreased to 1:3200 and 13/18 to 1:5000-ish.  So it was a little worrisome, but everything seemed to turn out okay.  This was the point at which we decided to share our news with the boys and the world.

Fast forward to our anatomy scan at 17w4d... we found out we're having another boy, and that he, at the time, had excess fluid in his kidneys (Hydronephrosis).  The doc told us that this is fairly common, particularly in boys, usually resolves itself, but if not just bears watching over time to ensure that it's not affecting amniotic fluid or anything else in the pregnancy.  Also that it is a soft marker for Down's, but given that everything else looked great, it only increased our risk to 1:1600 - so pretty much not even on the radar screen for me.  But we were scheduled for another ultrasound for 10w later to monitor the kidneys = today.

I was honestly pretty unconcerned about all this.  DH was debating about coming to the u/s, saying, "well, what if we get some bad news like the baby does have Down's, I wouldn't want you to be alone for that" (as I was at our 10wk appointment when I found out Schweffel had no heartbeat).  I told him that if it worked out with his schedule at work he should come, but no need to jump through any hoops.  I was expecting that just like in the cases of many of my friends who have had various soft markers on ultrasounds, like spots in the brain or whatever, that the excess fluid would be gone by now, and we'd get the all clear.

Well, not so much.  Not only was the fluid in the kidneys still there, when they scanned the rest of Truffle's anatomy, they found that he now has a buildup of fluid in the ventricles in his brain, a condition called "ventriculomegaly" which can be associated with anything from completely normal outcome (which is what the article from Children's suggests as the most likely) to mild developmental delays to severe retardation, mostly depending on the cause.  The doc looked around at the rest of the brain, and apparently one potential cause of the ventriculomegaly is that the corpus callosum, which is the structure that connects the two halves of the brain, can be missing (agenesis) - and she couldn't find it on the ultrasound, or maybe only part of it (and I'm not sure if she was just saying that to avoid giving us all the bad news at once).  So we're going for an MRI tomorrow for a more detailed look.   The range of outcomes if the CC is in fact missing is much less likely to include "normal".  It sounded like they are more of the opinion that this is some kind of chromosomal problem given that we now have two abnormal findings; the kidneys which have not resolved (although not gotten worse either, which I suppose is good), and the potential malformation in the brain.

Obviously, not what we wanted to hear.  For me what made it even harder was that each person we spoke to about it (the radiologist, my OB, and the genetic counselor) made sure to mention that although termination is not an option in this state, they could refer me out of state if that was what our decision was, if the additional testing confirmed abnormalities.  I couldn't even begin to think about it without sobbing.  I had held myself together pretty well up until that was mentioned, but that's what necessitated tissues.  (I honestly can't imagine terminating at this point unless Truffle wasn't going to be able to survive, and even then I'm not sure I could willfully end his life).

I'm trying really hard at the moment not to drive myself crazy with what-ifs and to wait until tomorrow when we will have more information (they were able to schedule the MRI for tomorrow afternoon).  I know that we will all love Truffle regardless but at the same time this may mean a very different future, particularly for me, than I had envisioned.  Mostly I'm managing, aside from not being able to write this news to anyone without sobbing.  And forget talking about it.  I'm sure as things settle in and I'm used to our new normal it will be okay, but having to adjust that normal is hard.

So please, think good thoughts for us, and hope that we don't get worse news tomorrow.

13 comments:

Carrie27 said...

Hugs and prayers.

♥ JAM said...

Thinking of you, keeping you in my prayers.
XOXOX\

Rebecca said...

Oh, no! I'm so sorry you're having to go through these "what ifs". I'll be hoping and praying that tomorrow's MRI brings reassuring news.

Thalia said...

Oh nico that must be incredibly stressful. I do hope that it all turns out to be one of those horrible scares, and that truffleis ok. But either way, we'll be here if you need us.

sarah (SHU) said...

oh nico - thinking of you too! i still think there is a lot of hope that everything will be okay but i completely understand the stress. i really, really, really hope you will get good news at the MRI!

Yo-yo Mama said...

I don't even know what to say... of course, what could I say, but I hope you'll know we are all thinking of you and that tomorrow brings only good and definitive news.

Martha said...

Oh Nico - thinking of you today. I can't imagine how stressful and emotional this must be. Hoping for the best possible news.

nurslouisa said...

Here from Lost and Found. Sending you many positive thoughts and prayers.

Maisie said...

Here from Lost and Found as well. Our daughter was also diagnosed with mild VM at 36 weeks or so, so we did a fetal MRI. From what I can tell, there seems to be a wide range of opinions on what this means- but we ended up going to a top doc, who told us not to worry. But I know how confusing the literature is, having gone through all that- it's really terrifying, and you don't know what to think. Our daughter is now 2 1/2 and very sharp. Hope this is much ado about nothing for you.

Egg said...

In my prayers! xo

Sunny Jenny said...

I am so sorry to hear your news. I too had a few "soft markers" for Down's and have been dealing with those mixed emotions. We never did an amnio and decided what ever will be will be. This is our child and she is "fearfully and wonderfully made". I pray you find some comfort and peace through all this and that your little one is a healthy baby boy.

Marianne said...

What a horrible time you are going through - I will keep you in my thoughts.

Lisa said...

I hope things are better for you now.