Hepatologist

(I'm going to backdate an adoption post soon, but I'm not going to keep everyone waiting on medical tenterhooks.)

First off, Jolly went for a long playdate at his friend's house and had a great time. He was super-excited about it, and I promised to take loads of pictures of the hospital this time because whenever we look at photos, he really ONLY wants to look at hospital photos and his favorite video of all time is the two second video I accidentally took of the nurses (they aren't even doing anything, just standing and preparing for a blood draw). He was in fine spirits in the car in spite of the early hour - he is hard to rouse, but once up, passionately declared his love of bagels and donuts and generally narrated up a storm on our way to drop him off.

We both took RJ to the doctor sans Jolly in the hopes that we'd have a chance to discuss fully with one specialist doctor the entire episode from start to present. That turned out to be the case, and it was super helpful, since we hadn't previously had a chance to do that.

At the far-away hospital, we saw a barrage of different people who all had slightly different pieces of the puzzle and sometimes disagreed with each other, and we also never got to see any of the official results because they couldn't print off from the computer station, even though we kept being promised copies. We totally loved the care we got but I think hospital stays are out of necessity a bit more hectic... and discharge was pretty scattered and thus we didn't get a chance to really talk through the entire situation fully and get all of our questions answered.

Our primary care physician is not an expert at this sort of thing, so while he tried his very best, he was also only working from partial records, as the hospital hadn't faxed over many of the records and he was partially relying on our remembering of brief verbal discussions of what scans showed. (Good thing we took notes!)

This time, we had a specialist and she did NOT have to jaunt off for another meeting and she also had all of the entire medical saga in front of her at her command. So helpful!

The take-home message is that RJ is on the upswing, and that we should try not to worry too much, and definitely not come back to our next appointment with a binder. (Drat, just when we'd gotten copies of all of his charts!)

His elevated GGT is a sign that his bile ducts were stressed/injured, but this would take a while to get back to normal, so she would regard its current level as appropriate considering circumstances. The cholesterol is high but is more something to be keeping an eye on for the future, rather than a sign of things contributing to his bile situation.

She reiterated our primary care physician's stance that the really scary genetic syndrome possibilities are unlikely to fit the clinical picture, but with much more confidence than "I've done some reading on pubmed tonight, and based on that it doesn't seem right", so I'm much more reassured. She does speculate perhaps that if he's a carrier for Alpha-antitrypsin deficiency (as I am) it might be relevant but that there's really no data on heterozygotes, so new ground. His NICU stay is unlikely to be the cause since he wasn't on IV nutrition, and indeed, there's not really necessarily a satisfying explanation for why he had this episode - could be dehydration or a virus setting it off.

The plan is to call if he has more than a day of very pale stools, but not to worry about a few lighter ones in a row. We will come back in two months for more bloodwork to check that his liver values are all back to normal, and also to do a repeat ultrasound. If he is still having sludge visible in his bile ducts at that time, then we will at that point undertake a more serious gene hunt to look for more exhaustive possibilities of underlying genetic conditions. Since his condition seems to be improving, and since the treatment options for all of the gene defects are pretty nil anyway, there's no point in hastening to do that testing now. And if at any point actual stones are visible, RJ will have his gallbladder out. It could be a tendency to have sludgy bile that's just managed okay by the ursodiol, and if so, great.

We're still waiting on the original genetic test results (PFIC genes and AAT phenotyping) and I'm going to check with the far-away hospital if there are any additional releases I need to sign to get those sent over when the are ready.

But, we are feeling much better that things are looking okay for now!