Wednesday, January 23, 2013


Abby has a genetics appointment tomorrow.

I am so not excited about this.

We saw a geneticist at UMMC many times when Abby was a baby, and I just started feeling like it was pointless.  Countless genetic tests showed absolutely no abnormalities.  We even did testing that isn't approved in the U.S. and had to be sent to Canada!  (I really am not sure how our insurance paid for that one, but we never got a bill!)  Her genetic make-up isn't going to change, and we can't find any issues.  So why keep going?

Plus, I am not a huge fan of someone whose job it is to point out every single imperfection in my daughter.  When Abby was a newborn in the NICU, I had to endure a lengthy examination by two geneticists where they oohed and ahhed over all of her abnormalities.  The last thing a stressed-out mom wants to hear is a laundry list of the things that aren't "right" with her daughter--and there's something downright wrong about hearing almost excitement in their voices as they discover yet another problem.  They even had a camera and would take close-ups of every little issue.  It still angers me when I think about it, and I refuse to put Abby through that.  She only needs to know that she was fearfully and wonderfully made, and that every single inch of her is perfect.  It's what makes her Abby!!  I wouldn't have it any other way.

So, we stopped going before Abby turned one.  I had already decided that I was done, but the bill in the mail that I got when our insurance decided that they were done too just confirmed it for me.

But, I was told by the cleft clinic at JHH that we didn't have a choice.  (I know that I always have a choice, but I didn't want to tick off the doctor who would most likely be breaking Abby's jaw in multiple places in a few years!)  They got the insurance issues taken care of so that it would be paid this time.  Soooo...I told them I would go.


I'm trying to remind myself that this is a different geneticist and that Abby is in a completely different place now.  Plus, I know that I'm the expert in this circumstance.  I'm not saying that to be snooty.  I am just fairly certain that she has never seen a child with CCMS.  I don't care how many case studies you read--it's not the same.  I should know.  I have read them all!  And I'm the expert in all things Abby.  :)

I've heard that she requires blood work at every appointment.  I do not understand this.  As much genetic testing as we have done, I'm pretty sure she can't offer us anything new.  If she can, then I'll agree to it.  If she can't, then I will sweetly point her in the direction of the huge pile of UMMC medical reports and keep Abby's sleeve rolled down.  I'm just not going to put my sweet girl through anymore pain than I absolutely have to.

Admittedly, I probably don't have the best attitude.  I won't be rude to her and I'll attempt to have an open mind.  But I'm just not a big fan of genetics.  Ugh.


Raelyn said...

Indeed. Abby is "fearfully and wonderfully made"!! Oh!! And Beautifully Unique.... Just the way she is!! ;)

Debbie said...

I agree with Raelyn totally but there's one other thing Julie - you really need to learn to say what's on your mind -quit holding back!!! (And we wonder where Abby gets her spunk)??!!! :)