bethysmalls

This is the message I sent to my family last Thursday:

Full results are normal for chromosomal abnormalities, deletions, translocations and they were able to look at enough cells that they are confident there are no mosaic conditions (which affect some cells but not all cells). The common abnormality that can cause clefting, DiGeorge syndrome, also was not seen.

So basically anything that can be seen on a chromosome with a microscope was not present.

They can’t look at every gene to look for every problem so we don’t know that every thing will be normal but this is still a comfort and great news.

Thanks everyone!

Going to nap now.

Thanks to you, too. xo

I came to a realization last week. On days I’m home with him, Bruno acts out the most, causing me to feel like a screaming banshee whose son is constantly trying to subvert her, when I try and get chores done. It’s about the attention.

So today, I’m trying to spend time with him and then I’ll do dishes and clean up when he naps.

Problem: we are watching Sesame Street and he’s being a very good boy. But! As I sit here with him I’m getting very sleepy which means I’ll be more likely to decide to take a nap when the boy naps leaving my kitchen in shambles from yesterday’s Easter baking project. Also I’ve seen these installments of Abby’s Flying Fairy School and Super Grover 2.0 at least 1/2 a dozen times each which isn’t helping my drowsiness. And we all know what happens when I doze during Sesame Street.

The old me would not think twice about a choice between cleaning and hanging out with a loved one. But I’ve learned in the past few years that I feel so much better, about myself and in general, when I at least try a little bit to keep things tidy (turning 30 has its drawbacks).

So I guess my conundrum is: how do I get one of you to come clean my house while I nap later?

What happens when the crankiest morning person in the world gives birth to a boy who is her temperamental morning equal? And that first person is pregnant? And that second person is 2? It might sound like this.
Cranky Pregnant Lady: Get over here so I can change your diaper.
Cranky Toddler Offspring: no!

(Repeat for several minutes with increasing volume)

Unfortunate Husband and Father: What’s going on?
CPL: I’m going back to bed because he’s being a jerk.
UH&F: Awesome.
fin.

So our preliminary results came back and they appear normal. Apparently my assumptions about the false negatives only apply to the preliminary results and even the chance of that is less than 1% which makes me feel much better.

I asked the genetic counselor, Nicole is her name, what the full results will show and she told me this:

• Prelim results, or FISH results, tell us about chromosomes 13, 18, 21, X and Y as those are the ones most likely to have 3 instead of 2.

• The full results will confirm the preliminary findings as well as look at all the other chromosome pairs to look for abnormalities.

She said that one time she gave a patient a normal FISH report and had the full results show a tripling of chromosome 13. So that was what the false negative business was about.

Anyway, because of the fact that every other organ that they looked at appeared normal and the only two issues were the clefts and the fists (which on their own would not even be an issue) I’m feeling pretty good. Full results should be in by next Thursday.

In the mean time here is a picture of my first born in a pair of shades.

picture courtesy of Nonna

Also, this is me as of last Tuesday!

21 weeks. Yes that's a table of booze behind me.

Thanks, everyone. I’ll keep you posted.

I haven’t talked much about this on this space but I’m pregnant with my second and I’m having an awful time. I mean, I had been having a fine time but at our 20 week ultrasound a cleft lip and palate was discovered and I was shocked and upset. We were scheduled at that point for a fetal echo the following week to examine the heart more closely. This is routine apparently as there was nothing thought to be wrong with the heart. They did mention that they couldn’t get a good view of the baby’s hands and that they would check it again at the echo. One anomaly is one thing. Two anomalies is quite another. That’s what they told us.

The echo part went smoothly but they continued to be concerned about the hands because they wouldn’t open up to get a good picture which, along with the cleft, can indicate Trisomy 13 or 18. Also a smaller cleft was observed on the other side of the face which is also more of a red flag.

I know this isn’t the normal kind of post on here but I’m really struggling and I just don’t even know what to do with myself. I guess I’m just really needing some solidarity.

Last week I thought I would be dealing with feeding issues and plastic surgery and now I have to contemplate not bringing home a baby at all. I know I need to be prepared for any possible outcome but I don’t even know what is preferable at this point. I mean obviously I’d be thrilled to take my baby home and deal with the cleft palate and lip and learning how to breastfeed a baby with a cleft palate but after that, every other scenario comes in at a distant, distant last.

We might know if the baby has a Trisomy syndrome on Monday but due to the mosaic forms of those disorders we could get a false negative. So.

At least my breast-age is. And I didn’t even have to take my shirt off!

Zoo With Roy!

My picture is the second one down. Jealous?