Another diagnosis bites the dust. Sort of. The syndrome du jour upon which Abby's geneticist has lately pounced upon is something called Opitz. If you want to read about it, here's the rather brief wikipedia entry:
http://en.wikipedia.org/wiki/Smith-Lemli-Opitz_syndrome
Let me just say what a joy it is to latch onto a new possible syndrome every couple months and have the chance to read all the horrible things it can cause. In this case, it was all for naught, since the test came back negative last week. This means little, though, since the test can very possibly not detect the syndrome but she can still have it. In brief, if it was positive, we'd know; since it was negative, we can be moderately certain that we certainly know nothing. Make sense? Great.
They want to see her again, of course, because that's what doctors do. They see you, usually get it wrong, then they see you again. Or, in Abby's case, they see you 9 times again.
I'm not exaggerating when I say that we get an average of 10 of Medica's incredibly worthless "This is not a bill" notifications per week.
This is not a subject that's really on my mind much, I just wanted to say that we've effectively ruled out yet another syndrome. Hoo-ray Abby! I think we can only know that, if she does truly have something (which is brutally likely), we can take heart in knowing that it's got to be pretty mild.
This morning, it was delightful to bring the girls downstairs and watch them react to Jen's cousin Zach sleeping on our living room floor. (he was on a futon mattress, we're not trolls you know) They were quite stunned. I think they warmed up to him and his friend Mary with whom he was bouncing around the US looking for a PhD school.
The day was nice. Our trot around powderhorn park with them on our backs was enormously sweaty. In the afternoon, we went to a birthday party for Ruby and Henry Downing and they sprung for some very high quality cake, which was awesome of them. I had a very dad moment while swinging Lily in the playground. I was there with two other guys, about my age, all swinging kids about Lily's age. As we chatted idly, I felt so suddenly Dad-like. Daddish. Dadesque. I can't say that it was much more interesting than that, it was just a strong and sudden feeling of self-appraisal.
I have about a thousand kid stories, and I am desperate to put them down here. Unfortunately, it's 11:30, so it's off to bed with this Dad.
Day two hundred and nine.
These are the cutest pictures yet!
ReplyDeleteDave, for the record, in your exhausted state last night, you put a link for the wrong Opitz syndrome (there are two). The one not ruled out but not confirmed for Abs is the other one (X-linked, BBB). Doesn't really matter, just felt like correcting. :)
ReplyDeleteHi- I enjoy your blog! Beautiful family. Found you thru my friend Sue's blog. I have a daughter with a "syndrome", and this post brought me back to our visits with the geneticist early on (glad to be done with HER). Ours turned out to be rare and often missed, tho it is known and somewhat well-defined (5p-). With that determination we did get a national support group and more of an idea what to expect, tho there is still a lot of outdated info out there. Best help has always been from other parents. We hobnob with families from special ed- most of us have typical kids as well (it's a double life). Hey, we also get lots of EOB's from Medica and twice-weekly bills from Gillette! We go there and Chlldren's West for Speech and do horseback OT elsewhere. Have had good therapists and ones that didn't work well with our child. Got some "keepers" now. Started Kindergarten this fall. Best wishes to you - looks like you are doing well and Abby is hitting those milestones on her own timetable.
ReplyDeleteKate J.