3 week medical update

I need to do better about updating on what's going on with our cutie, medically.  I lose track of the timeline.

So there are 3 main teams that we've been working with at Primary Children's - Genetics, Neurology, and Infectious Disease.

The "big" test we were waiting on came back this week.  It was a SNP ray which is a genetic test of her chromosones.  The lab combs through her sample looking for genetic markers in her DNA that could tell us if she has some genetic marker for any particular syndrome.  Unfortunately, her test came back with nothing remarkable showing for her.  So we still have no idea what's going on.

In light of that, the hospital sent samples for about 4 more obscure genetic tests.  A couple of which required a second spinal tap for my poor baby (don't worry, we always make sure they sedate heavily when doing anything that could be uncomfortable for her.)  We don't expect to hear back on these for about 3 weeks because it's the kind of thing where there might only be a couple places in the country that test for those specific syndromes.  The genetics team at the hospital has expressed that at this point they've tested for basically everything they can think of that she shows any of the partial symptoms for, so if this last set of tests comes back negative then we will still be in the dark as to her diagnosis.

The neurology team is also at the end of what they can do.  If the genetic tests come back negative, then neurology can do a nerve conduction test and some other kind of test to try to determine if whatever's wrong with her nerves is progressive or not, but we probably won't do that.  It won't add enough information to warrant having her poked all over with needles.

The infectious disease team is also done, I believe.  They have tested for everything they possibly can and all her tests have come back negative.  For the first two weeks of her life they would call me every few days and have me answer a long series of questions, trying to figure out if there was any chance I could have contracted something while pregnant that could have passed to Aria in utero.  Even something as little as having a fever could have been an indicator of something else going on.  But other than the extroardinarily horrible morning sickness this time around, I was quite healthy this pregnancy. . .no, I don't remember ever being sick while pregnant. . .no, I didn't spend time with any farm animals. . .no, I don't live in an area with higher infectious disease contamination. . .etc etc etc.  So they have nothing to go on.  For a while the biggest disease they were considering was CMV, which is quite common but potentially deadly when contracted in utero, but even though she shows many of the signs for it, it doesn't account for everything that's wrong with her body and none of the tests have come back conclusive for that.

We've kind of accepted the fact that we may never know what on earth happened.  It's just discouraging because we'd like to have at least a little closure on that side of things.