I’m picking Phil’s parents up at the airport today. I’m really excited to have them here, and I’m looking forward to taking more photos of the tater tots with their grandparents. I hope to explore a bit more of Austin with them, get the kids to some gym where they can bounce off the walls. Mostly, I’m looking forward to some family moments, the ones you cannot come by through planning.
We’re still waiting on Phil’s "nuclear results." Regardless of whether they indicate anything, it doesn’t end here. There will be regular monitoring, not just from the cardiac electrophysiologist but from a cardiomyopathy specialist, someone who can detect the subtleties I suppose. It’s alarming to me that with all the doctors with whom Phil met before he was cardioverted, not one of them (Natale, Horton, Whitehill, Blois) realized he was in complete heart block. Maybe he wasn’t? Maybe once Phil was shocked out of atrial fibrillation he went into complete heart block? I don’t really know, and no one has really said. Normally I’d argue that it doesn’t really matter, what’s done is done. But with medicine and medical care, it actually does. I’m also aware that medicine isn’t exacting, and neither are lab results:
Phil needs genetic testing and a CPK blood test. It is not, I assure you, to see how much California Pizza Kitchen he’s been eating. It’s a simple blood test where they check his total CPK for elevated levels, which might indicate LAMIN A/C Disease, but if they’re not elevated it doesn’t rule LAMIN A/C Disease out. The catch is that HALF of patients with this condition do NOT have positive genetic testing.
According to one extraordinarily helpful doctor, "the chance of finding a lamin a/c mutation in an individual with this range of cardiac problems/family history is decent–over 50% but definitely not nearing 100%. That, of course, means that a negative test will not prove that you don’t have this type of heart problem."
Oooh, so it’s like when I was pregnant with twins and all the pregnancy pee sticks refused to acknowledge it–total bitches that they are. I showed them. And I must say that Lamin A/C disease sounds like a foot fungal problem that’s rectified with extreme doses of air conditioning. In the meantime, I’m making "dessert caviar" with passion fruit sorbet and cilantro syrup so I think about anything but this.
*** As an aside, for those wondering, Lamin A/C Disease is damn hard to learn about via google. Here’s what I know, thanks to a friend of mine: This condition is associated highly with sinus node problems (check), AV node and atrial fibrillation (check), and cardiomyopathy (which is probably what Phil’s dad had, considering that it’s EXTREMELY unusual for a patient to die in his thirties from a weak heart unless there’s a cardiomyopathy at play). Lamin A/C Disease is also theoretically associated with sudden death. Given all that, I kinda want to know what we’re dealing with here, sooner rather than later.