Finally our charming country doctor and his medical assistant chased down the test results from Yale, which were back last week but which were not forwarded to our child's medical care team in spite of my multiple conversations with staff at the hospital and at the medical records office. (They did send just the name of the tests on Friday, which is not terribly helpful, because we wanted the actual result of said test, and not just the name of the test.)
The good news is that our child does not have PFIC mutations in any of the three transporter-genes sequenced! I cannot even say how incredibly relieved I am about that.
The bad news is that the alpha-antitrypsin test somehow never got run, nor did a bunch of viral studies, even though his chart contains mention of them. As I'm a carrier for alpha-antitrypsin deficiency, we'd really like to know the result of that... but since he doesn't really present with the signs of being homozygous, we can wait in a somewhat more relaxed state. It won't be worth a separate blood draw, but it might be something that could be added on to the liver function bloodwork being done in two weeks... or we could lose our patience and just collect some of RJ's drool for 23andme and get the result from a genetic rather than a biochemical approach.
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