Sunday, August 14, 2016

Health Update

First, my appointment regarding the genetic testing went WELL.  So well.  I didn't test positive for any genetic mutations, and there were no mutations at all of unknown significance--which is a grey area that can happen, where they know a gene isn't normal, but they can't tell you the significance of that mutation, because they don't yet know the impact.  Everything they looked at was NORMAL.

This was a huge, huge, huge relief, because they told me at my initial pre-testing appointment that the transmission rate for all of these things was 50%, and I was terrified about what this could have meant for the girls.  And oh yeah, me, too.  But, all was normal.  Sheer, sheer, relief.


I could tell in my appointment that they were a bit surprised, given my family history, that they didn't find any mutations.  They told me that they did a much broader panel for me than they normally do for most people--they tested for a pile of things.  In short, in the end, they said that the appendix thing that happened to me was just shit luck, as opposed to having a genetic underpinning.  They'd like me to come back in 5-7 years to update them on family history, if I have a spare minute.  And they want me to eat healthy.  :)

I'm still nervous about health stuff.  I have my regular re-screening in a few weeks re: the appendix thing.  I will be very nervous.  But for now, in this moment, all is okay.

1 comment:

Jane said...

Oh wow, that is such a huge relief! What a chance to move on and put (much of) this out of your mind. So happy for you ... hope other things are clearing as well.