A fifth ultrasound and some genetic counselling

Yesterday we spent a loooong day at the children’s hospital, much of it waiting, and had a 3d ultrasound, meeting with a maternal/fetal medicine specialist, and a genetic counsellor. It felt pretty surreal. The ultrasound took an hour, I wasn’t allowed in, and D reported that all she could think about was how much she wanted to a) cry, and b) eat a veggie burger.

The prenatal diagnosis clinic shares a waiting room with the digestive disorders clinic, and there was a man talking on his cell phone loudly for ages. I thought I was going to lose my cool and yell at him to go out in the hallway, and I am so not a confrontational person. Somehow, I eventually let it go and tuned him out.

We were in the waiting room for ages, then met with the genetic counsellor, who was lovely. She explained that the echogenic foci were lighter than he surrounding bone, so not really a concern. We were relieved to hear that even with the 3D ultrasound, there were no additional findings, though the nasal bone is a good deal shorter than we were told at the last scan. Better scanning equiptment gives better measurements, apparently. 

The short nasal bone is a pretty big deal. It raises our risk by about 50 times, putting us at 1/300 – which really isn’t that bad, considering. There is a 99.7% chance that she doesn’t have Down Syndrome. But a week ago, it was 1/16,000, so it still feels a big deal. We were offered amnio though we’re kind of on the border of high risk, but decided to apply for provincial funding of non-invasive prenatal testing instead. NIPT is 99% accurate and requires only a blood test, so we feel better about that than amnio. We’re hoping funding will come through this week (it is otherwise $800), and then it takes about 10 business days for results. So more waiting. But it feels less daunting.

Today, I went back to look at photos of our KD’s daughter as a baby, and she has a teeny tiny cabbage patch kids nose. Since genes obviously have an influence on nose size, that seems like it might explain Junie’s nose – I can’t believe I’m talking this much about the nasal bones of my unborn baby. Weird.

I’m feeling a bit less anxious since the appointments yesterday. I am still a bit fearful of the unknown – after all, Down syndrome can mean such a wide range of outcomes – but I keep reminding myself that regardless of her chromosomes, she’ll be perfect, and she’ll be our baby. I kept reading, on forums about soft markers, people’s announcements that despite their soft markers their baby was ‘perfect’, ‘fine’, ‘normal’. While I empathize with their relief, I dislike the implication that a baby with Down syndrome is not any of those things.

I think in the abstract it is hard to imagine your future baby, when you’ve got the looming thought of a particular diagnosis. I’m certainly finding it hard. But I also know, that regardless of who she turns out to be, we made this baby in so much love, and we have so much more love to share with her. If she does have Down syndrome, she’ll be herself, not a ‘down syndrome baby’, just a baby with Down syndrome and many other individual traits. My main hope is that she has a strong heart (heart problems are common with Down syndrome), and that she is relatively healthy.

We met with the midwife today for our regular monthly appointment, and she was great. She was understanding and empathetic about what’s been going on, but not pitying – which is exactly what we need right now.  I am so glad we chose/randomly were assigned to her.

We’ve been feeling Junie so much this week. She bucks around a lot, and you can even see it from the outside. It is pretty awesome. D is looking more obviously pregnant by the day, but I guess if you don’t know her you could mistake it for a pot belly. We did some work together on Monday (gardening mostly), and it was nice to be working together, and to be outside – it was sunny and 24 degrees. D is already feeling a bit slowed down by being pregnant, and having a hard time bending down and getting up from sitting. It’s funny, we almost skipped ttc in December because of wanting to avoid being heavily pregnant at the height of her work season, as well as the hottest time of the year. Though I am in no way complaining that it worked the first time!

We’ve been settling in to our summer home, which is small but cozy, and it is nice to have our own space again, and to think about getting our veggie garden going. Miraculously, our kale seems to have survived a zone 5 winter! I had no idea that was possible, but it is sprouting leaves from the main stem. Pretty cool, cause we eat organic kale like it’s going out of style and that stuff is expensive around here. If only we had more luck with broccoli… Anyway, I’ve got a bunch of seeds ready to plant anytime – likely this weekend. Usually I do this at the end of March but I’m a bit behind! I can’t wait to have our own veggies again.

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3 thoughts on “A fifth ultrasound and some genetic counselling

  1. I can’t believe you weren’t allowed in with her for the ultrasounds! I know the rooms are small and the techs need to focus but the emotional support is huge. I had a girlfriend for a spell while I was pregnant and she got to come with me for the ultrasound.

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    • Yeah, it was sucky. Especially at the hospital one, when we were both rather teary. I guess it just varies a lot by country – it was so relaxed in NZ, she didn’t even have to wear a gown, but here it seems much more medicalized. I imagine it prompts a lot of people to go to those commercial 3d ultrasound places to get the experience of seeing the baby as… well, a baby, rather than a set of measurements.

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