The geneticist

Well, we had our meeting with a geneticist, per a recommendation from the cardiologist.  Our meeting was at 12:30pm on Friday.  The geneticist entered the room around 4:45pm.  Yep, over 4 hours late.  In hindsight, I don't know why we kept waiting.  I guess once you've packed up an infant and waited an hour, then two, you're kind of committed to the appointment. 

I've mentioned before that the liver doctor ordered genetic tests that are still pending.  They've done 2 tests on Lincoln's Jag1 gene, the most common gene to be the issue for Alagille's, both of which have come back negative.  There is a Notch2 gene test pending.  If that's negative then there's one more Jag1 test still left to be done. 

So, back to the geneticist...she confirmed that she thinks it's Alagille's but we are going to wait to see how the genetic tests turn out.  Yea, NOT worth the 4 hour wait.  I'm not sure why the cardiologist recommended we see her now, knowing the liver doctor had genetic tests pending.  I'm not sure why we didn't point that out before making the appointment.  But it's done now, and there were some good points.  She did take a look at Lincoln's facial features since Alagille's kids tend to have certain facial characteristics in common. Prominent foreheads, pointy chins (so they have kind of a triangular face), long noses.  And it was nice to have someone combine Lincoln's separate issues and take them all into consideration at once.  While the doctor's at Children's are great, they don't necessarily talk to each other and can have varying opinions.  The liver doctor thinks Lincoln's forehead looks like Alagille's, the cardiologist disagrees.  The urologist doesn't think the kidney issues are related at all.  The geneticist brought it all together.  She agrees with the liver doctor that Lincoln's forehead has some consistencies with Alagille's, mostly the indentations on the sides of his head.  She doesn't think he has any of the other features at this point, but he's still only 3 1/2 months old so that can obviously change.  She thinks the kidney issues are related to the heart and kidney.

John and I have mixed feelings about the fact that this is likely Alagille's.  We certainly don't want Lincoln to have a genetic disorder.  But the liver doctor told us recently that there is no other known cause of a liver duct shortage like Lincoln has.  His hope is Alagille's over something new we don't even know about.  My hope is that the liver resolves itself and it turns out it's not Alagille's so there are no genetic ramifications, but that's looking unrealistic.  So short of that I guess I should hope for an Alagille's confirmation as well.