So I've been finding it really difficult to get on here and make updates (surprise, surprise!) I wanted to post something after each of our appointments last week but never had the chance. Amidst the several that we had, we also celebrated Gianna's 3rd birthday...HOORAY!!So needless to say, things have been a little crazy (which basically means it's been business as usual.)
Anthony had 3 big appointments in the last couple of weeks. The first was with his geneticist. Luckily we only saw his Doc and not his fellow (I think she's a 4th year resident.) She is famous for squealing "eewwwww, he drooled on me!!!"...so she's always a real pleasure to deal with! We were expecting to have some results back from his latest round of testing but nothing was back yet. The doctor did tell us what they were testing for, a few very rare genetic syndromes that Anthony doesn't completely fit the profile for, but I honestly couldn't recall them if I tried. I suppose I could have written them down, and I'm sure some of you reading this are thinking "why the heck didn't she!" But honestly, they are so rare and I figure there is no point in me researching them and worrying about what I read if he doesn't actually have any of them. And as some of you that I've spoken to about this already know, I am really kind of "over" finding a diagnosis for Anthony. It really won't change anything...my love for him, his treatments etc....But there is one reason I am uneasy without the diagnosis, future children and risks for MY children's children. UUUGGGHHHH....*sigh*
The big take-away from the appointment, and the VERY difficult part for me, was that they tell us that they are concerned about the potential risk that this could repeat itself in future children. PLEASE, PLEASE don't get me wrong...I LOVE my little boy with every fiber of my being. I wouldn't trade him for the world and he ALREADY has given me so many amazing gifts. I just don't know how we could manage having another child with his level of need. So they are asking us to wait at least until this next round of tests comes back....I guess 5 weeks or so. Which is totally fine because we weren't planning anything that soon anyhow. If it comes back positive they will be able to give us more information on the exact odds....if not they will give us a 0-25% chance of recurrence. He also briefly introduced some options with genetic technologies (if we happen to get more genetic information about his condition) but we are not at that point yet and honestly it is so overwhelming to even consider any of that just yet.
So all in all, we really didn't hear much new info from this particular meeting...we go back again in a couple of months and will probably reciave more info before then....