Thursday, September 11, 2014

Surgery & Genetics

A month ago, I wrote a blog about some upcoming health stuff happening with Joshua.  Here are the updates:



Surgery - the actual procedures (ear tubes and dental work) went well; the day itself was pretty hard on J.  This is the first surgery he's had in 2 years (after 9 in his first 18 months), and it definitely changes the dynamic when kids are old enough to understand what's going on.  I don't know if it's entirely worse, though:  there was an idea floating around when he was getting all the surgeries done as an infant that at least he wouldn't understand / remember them -- in some ways this is worse, because there's not a clear distinction for the baby between things that cause pain and things that offer safety & comfort.  Now when he gets surgery, he is old enough to understand that it's scary when he's walking back with the anesthesiologist and scary when he's waking up feeling disoriented and in pain, but he also knows that when we head home, he's going to a safe place and the procedure is over.   I think it boils down to this:  surgery is always hard, and there are both new pros and new cons as kids get older and more aware of what's going on.  As far as surgeries go, this was a minor one and there were no post-surgical complications, so we're glad for that, glad to be moving past it, and glad that there are no upcoming surgeries on the books!

Genetics appointment - Yesterday, J had a genetics appointment.  He had previously seen a geneticist when he was 1 week old and 9 months old, both times in Utah, and they determined that he did not have either of the two syndromes most commonly associated with Pierre Robin Sequence.  However, there are a bunch of less common syndromes / chromosomal abnormalities that are associated with PRS, and Josh has a few features that make it seem possible that he has an undiagnosed underlying syndrome.  (Most notably, a pinky finger that won't bend and overlapping toes.)  The geneticist did two things that made me very happy:  1) She said that she thinks Joshua is doing great overall (as far as health, development, etc.), so there's probably nothing to worry about.  (We think so too, but it's always super reassuring to hear it from a doctor.)  2) She ordered a microarray, which will test for any chromosomal deletions or duplications.  It's always helpful to have more information rather than less, so if it turns out he does have something chromosomal going on, we will better know what health issues to monitor.  And if not - great!  Either way, it will be good to know.  So it turns out that it is true (at least in our small sample size of one each) that West Coast geneticists do rely on physical examination and East Coast geneticists do rely on testing.  They already gathered J's DNA using a cheek swab, and we should have the results in about 6 weeks.

That's all the updates for now!  Will post again when we get the results of the microarray.




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