Skip to main content

Genetics

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.

Once.

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.

Comments

Mary Lou said…
Julie....
Indeed. Abby is "fearfully and wonderfully made"!! Oh!! And Beautifully Unique.... Just the way she is!! ;)
--Hugs!!--
--Raelyn
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)??!!! :)
xxoo

Popular posts from this blog

Cerebrocostomandibular Syndrome

If you happen to pick up the latest Reader's Digest, there is an article in there about Piper Breinholt , a four year old with CCMS.  If you've been around here a while, you'll remember wayyyyyy back when we first received Abby's diagnosis that I was able to speak to Piper's mom, Reagan.  The article is more about their story and not as much about the ins and outs of CCMS, but I think it's probably enough to get some people googling it and I'm hoping a few will end up here. Every once in a while, I give a blog post the title of Cerebrocostomandibular Syndrome so that it would show up in Google.  My ever-present hope is that people will stumble across my blog and 1) be encouraged by the hope we have in Christ, 2) feel a connection with someone in a similar situation as them, or 3) get excited over the miracles that have been performed in Abby's life!!  (a combination of all 3 is great too!)  :)   Notice that it's not to get famous and it never wi

Bath Time Photos!!

As promised, here are lots of photos of Abby's first bath. Caleb was supposed to be in bed, but the bathroom is right next to his room... "I'm not too sure about this..." Once she learned how to splash, she was all smiles! Her first good hair wash! Gotta protect the trach! She really liked getting water poured on her head.  It was cute! Smiley (and bubbly) for Daddy while he dried her off. All clean!!  (Note the Lysol wipes in that last picture.  They are NEVER far away!)

Imagination Movers Photo Recap

Seriously, The Imagination Movers were so much fun!  They played lots of their own music, with some classic rock mixed in for the adults.  There were also quite a few jokes and references to Baltimore, which was kind of fun.   The whole night centered around this robot named Rock-o-Matic, or "Rocko."   This is Mover Scott, and he wears Wobble Goggles that help him see new ideas.  Caleb and Abby have a pair of goggles too.  :) There are 4 main Movers that are part of the TV show, but they have 2 extra movers to play instruments and do back-up vocals in their live tour. Abby finished up her feed before the show started so that she would be free to dance! My dancing queen did NOT want to sit in my lap.  The row in front of us was empty, and that is where she stood almost the entire show--dancing the night away. My Imagination Movers  Caleb did his share of singing and dancing too.  He knows most of the words to the songs, so