Genetic Update

Just a quick note on what we know about the genetic testing that Addison had done several weeks ago in San Diego.  The doctor called this afternoon and everything came back normal.  This is good news - yet leaves questions as to the cause of her hearing loss.  We now are going to wait for a referral to see an endocronologist.  Addison has dropped off percentile wise on the growth curve, we've had this discussion before I know, but with her hearing loss there is a possibility that they could be related it seems.  So the genetic doctor wants to have her seen to rule out any hormone problems.  She said that she's fairly confident that there aren't hormone problems but needs to be sure.  Addison has had her thyroid levels and such checked at her 1 year well baby visit because of her size - those were all normal - this will be an additional level and more thorough testing of growth hormones and other hormones it sounded like.  If there are no issues with hormone levels, the genetic doctor wants to see Addison again when we can schedule the visit in San Diego for follow-up.
It seems odd to need a follow-up if things are showing up normal.  But the follow-up would be to investigate further the cause for the hearing loss.  It is necessarily essential to find the cause I suppose, but there are some causes and things that could lead to other concerns and help us be better able to take care of Addison.  It may mean that we are more aggressive in testing her hearing (because it could fluciate more easily) or that we have screenings done of other things every so often because the hearing loss is connected in some way to some other body system (like the kidneys).  The follow-up to the best of my understanding right now would not be an invasive or painful visit at all, most additional testing would be mostly pain-free - minus the sitting still and possible blood draws.  Our insurance right now has great coverage, these are things that could be beneficial and so it seems to make sense to at least investigate what further tests and things are recommended.