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

The Potty Man

Caleb LOVES to go potty! I have never heard a potty training story like this one....Caleb tells us when he needs to go, we take his diaper off, and he goes! Now, is it perfect? No, not at all! We aren't trying to potty train at at all, but we figure every time he goes is one less diaper we have to change! The only time we consistantly put him on the potty is when we give him a bath (he always pees in the tub, so we know he needs to go!) He almost always goes on the potty now instead of the tub though. When he's not "really" going potty, he's pretending to go potty! He's such a funny kid!

Lego Party: Favors

I'm a little slow in posting the Lego Party pictures, but I think I have a few excuses I could use.  At any rate, I wanted to share what I did for the party!  It will take a few posts, so stay with me.  I'll start with how I did the favors. These are the goody bags I made.  I just bought solid colored gift bags and matched scrapbook paper to each bag.  Then I punched circles and attached them with the 3D foam tape so that the circles were raised. I used the keychain (explained below) as a name tag on the outside. These are Duplo blocks.  I put a round magnet on the back and...voila!  A magnet!  (note:  hot glue doesn't work so well...I ended up reglueing them with my apoxy because the magnets fell off.) I made crayons using Lego man crayons.  Yes, I know this guy has lost half of his leg.  The others were already packaged and I didn't want to open one up just to get a picture.  I used a Lego mold  to make the crayons.  Caleb put small pieces of crayon in each m