This one will be short, because I have 2 extra kids spending the night tonight, and I am about ready to lay down and just veg out for a while.
So – the geneticist. Not a woman with the best bedside manner. When she walked out to the waiting room to get us, she snarkily asked: how many of these children will you be bringing into the room? Umm, all three of mine? (O and Y too sick to go to school/the childminders). When we got into the exam room, O asked if he could have an examination glove to play with, and she just looked at him. I said, “I guess that’s a no then”. Then she started in with the questions – she draws this family tree, puts O and Y on it, and then adds Emmett. Then she asks me if Mike and I are biologically related to each other. Now I’m not sure that she asked that because Y was feeling so bad that he looked like a product of an incestuous relationship, or whether she just forgot that Emmett is adopted. So I reminded her that Emmett is adopted, and told her that no, Mike and I are not related. She really didn’t have any other questions – I told her about all the problems he has, and that was it.
At the end, she says that what she recommends is a micro-chromosomal assay, which I gather is a more in-depth look at all of his chromosomes to look for deletions, etc. Which is great, but the results take about 3-4 months to get back. My question is this – why have we been waiting 3 months for this appointment, when she might have guessed from the clinical signs noted in his medical record that she might need this test. Why not run it 2 or 3 months ago – they are even going to use the same blood that they used for the DiGeorge’s testing, so they’ve had that blood in their possession since we got home from Vietnam. Argghhh!!! It just chaps my hide that now we’ll have to wait until January or February to get any results – although I am super glad I pushed to have this appointment moved up – I’d be even more angry if we had to wait until mid-December for her to tell us she was going to run a test on blood her department has had since early September.
Anyway – deep breath. I did ask her if all of his clinical signs – which include hypospadias, bifurcated scrotum, tetrology of fallot, wide-set eyes, asymetrical ears, very large open fontanel, intestional malrotation, and global developmental delays – made her think of any syndrome in particular. No, she says, but she’ll do some research.
So there you go.
On the brighter side – he’s taken 12 ounces today so far! Wa-hoo! One more feeding left today.