Yesterday we made our long-awaited foray to our geneticist - the last specialist on our list of specialists to visit that was assigned by our pediatrician.
I went in with great hopes. The other visits (neuro, cardio, developmental peds, therapy, etc.) I kind of considered "fact finding" missions - just data-collecting, which would culminate in this final visit when we would receive ANSWERS.
I was wrong.
We have no answers, just more questions... and more specialists to visit. *Sigh*.
We had a super-long visit - first with the nurse, then a genetic counselor, then the intern, then the doctor with the rest of the team. The doctor was truly excellent - highly recommended. We talked, and talked, and talked, and they looked at baby and asked questions and looked at our family tree. Very good stuff.
However, no answers. Not even real guesses. She named a few syndromes that vaguely matched his symptoms (Angelman's and Smith-Lemli-Opitz - what a mouthful!), but said that she was not satisfied with either solution.
First off, they are going to send us (as expected) to get the more detailed chromosome micro-array test. That will just be a blood test, and it should tell us all we ever wanted to know about Glenn's chromosomes.
However, the doctor told us that this test is so new that even though we will get a diagnosis, there may be no information on it (though there likely would be in a few years). However, it's a starting place. That will be whenever we get the paperwork through, probably in 1-3 weeks (plus processing time).
She also requested an infant eye exam, which we have set up for November.
She also requested two tests that we're not sure about. The first is a GI test for reflux, to see if reflux is causing his back-arching tendencies. The second is a brain MRI, to see about the same plus the other neurological symptoms.
We agreed to them, but after researching the tests, are really questioning them. The GI test is an unpleasant test with risks of its own, and it also requires a 12 hour fast. I am really not happy about putting an infant through a 12 hour fast. Baby is not sleeping through the night - he eats several times per night - and trying to keep him happy without food for 12 hours would be a nightmare. The brain MRI requires general anaesthesia for an infant, and will, I'm sure, also require a fast because of the anaesthesia.
So our question is - How much of this stuff is truly necessary? We want to know what's going on, because we know there are some moderately serious things afoot that we need to know details on. But we don't want to put baby through painful tests if they're not really necessary. So tonight I drafted an email to send to the geneticist, asking, in short, which tests truly are mandatory and which could be avoided or postponed. I hope that she is willing to work with us and isn't just annoyed (an understandable reaction!).
At this point, we have more specialists underfoot than I can even count - baby's medical records are in a 1 1/2 -inch notebook and about to expand to a 2" because we have so much paperwork. I am not desperately worried about the state of baby's health, because whatever is going on he is still happy and content and not suffering or actively sick - and those are my main concerns - but I am worried about how long this process is going to take and the path that we will have to take to get there. So far our path has been easy - just a checklist of to-do items, but now it's getting a bit trickier.
(I just tried to send that email mentioned above, and it timed out and erased everything - blast! Now back to writing it all again from memory.)
Have an awesome week, all!!!