..happened right around 30 and 32 weeks. Aria is due in February, around the 14th, but we plan to move it to the 10th.
We met with a genetic counselor. I'm not really sure why. I mean, I understand that with all Aria's problems, the syndrome HAS to be genetic, but knowing that a microdeletion caused it won't help her. It'll help us decide not to have further children, but I don't know that we'd be able to do that anyway. It seems unnecessary. A second visit is similarly unproductive--the geneticist wants to be able to see the baby to be able to try to put a name to her condition. Fair enough.
On the ultrasound, we find another problem. Aria has a radial ray malformation, meaning that the bones in her forearms appear to be twisted, causing her hands to be clenched. "Like a baby T-rex?" is my question. I'm not sure who thinks it's funny (I know Rachael does. It's partly why I married her.) I'm very sure I don't care--this is my problem, and I will deal with it on my terms. I imagine that this may cause us some difficulties with mandated reporters down the road. That's a problem for another day.
We also find that the intestinal difficulty does not appear to be a complete separation of the intestinal tract. Instead, it looks like an obstruction. Either way, it needs to be surgically repaired shortly after birth.
So, let's recap: Aria has hydrocephalus, agenesis of the corpus callosum, radial ray malformation, a ventricular septal defect, a dilated kidney, and an intestinal blockage. Echogenic foci, bright spots on the heart, is just a marker for problems--by itself it's meaningless, so we won't count that one.
But she has a heartbeat, and we can feel her move. I'm already proud of her. And I'm proud of her mom for holding up under the most intense stress you can imagine (while also being pregnant). This Christmas, I definitely count my blessings. I have a good life.
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