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Heart checkup
Aug. 21st, 2009 10:00 amCharlie went for his heart checkup this morning -- he was born with a small PFO (fancy term for hole in heart) -- harmless but something to watch. Today's followup ECHO shows that the hole has grown a bit. It's still harmless but now it's called an ASD. If it gets bigger it will need to be fixed with a not-horrible surgery where they use a catheter to put a screen into the hole. Right now we're on a yearly followup schedule and the doc emphasized that this isn't affecting Charlie in any way.
Disney's Sleeping Beauty was playing on a TV in the room while they were doing the ECHO. When the doc came in and RE-DID the same ECHO that the tech had just done, because he just wanted "a few more pictures," with all 3 of his residents peering over his shoulder, I pretty much knew he wouldn't be saying "yay, the PFO closed up, as we hoped!". Meanwhile the movie was just reaching the part where there are storms and portentious music, so I asked one of the residents to mute it. If I'm going to hear bad news I really don't need dun-dun-duuun!!! music playing in the background.
It is bad news. The ASD isn't such a big deal, but it's a diagnostic marker for Holt-Oram syndrome---more specifically, it's the marker that was initially missing, that kept the geneticist from diagnosing his condition as Holt-Oram. The other diagnostic marker is an anomaly of the bones of the forearm, which it's safe to say he has. So we'll be going back to the geneticist to see if we can get a single-gene test to confirm that he has it, but even without that I think she'll make it a formal diagnosis instead of the "maybe" we've had thus far.
Holt-Oram is a single-gene mutation that can cause small defects like webbed fingers, large defects like entirely absent arms, and ASD and VSD of mild to extreme severity. And it's autosomal dominant. So if Charlie does have it, his decisions about his future family will be a lot more complicated than we want them to be. We pretty much already expected this, but right now, when we're struggling with family-building decisions of our own, this new bit of data is hitting us very hard.
Charlie feels fine about it, fortunately. He fell asleep during his ECHO and is at daycare now, while I get ready to go to work--I have a critical change to implement later today, so I can't take the whole day off to mope, unfortunately. But I have the next two hours off so I'll double up on the moping and see how that goes.
Disney's Sleeping Beauty was playing on a TV in the room while they were doing the ECHO. When the doc came in and RE-DID the same ECHO that the tech had just done, because he just wanted "a few more pictures," with all 3 of his residents peering over his shoulder, I pretty much knew he wouldn't be saying "yay, the PFO closed up, as we hoped!". Meanwhile the movie was just reaching the part where there are storms and portentious music, so I asked one of the residents to mute it. If I'm going to hear bad news I really don't need dun-dun-duuun!!! music playing in the background.
It is bad news. The ASD isn't such a big deal, but it's a diagnostic marker for Holt-Oram syndrome---more specifically, it's the marker that was initially missing, that kept the geneticist from diagnosing his condition as Holt-Oram. The other diagnostic marker is an anomaly of the bones of the forearm, which it's safe to say he has. So we'll be going back to the geneticist to see if we can get a single-gene test to confirm that he has it, but even without that I think she'll make it a formal diagnosis instead of the "maybe" we've had thus far.
Holt-Oram is a single-gene mutation that can cause small defects like webbed fingers, large defects like entirely absent arms, and ASD and VSD of mild to extreme severity. And it's autosomal dominant. So if Charlie does have it, his decisions about his future family will be a lot more complicated than we want them to be. We pretty much already expected this, but right now, when we're struggling with family-building decisions of our own, this new bit of data is hitting us very hard.
Charlie feels fine about it, fortunately. He fell asleep during his ECHO and is at daycare now, while I get ready to go to work--I have a critical change to implement later today, so I can't take the whole day off to mope, unfortunately. But I have the next two hours off so I'll double up on the moping and see how that goes.
