24 July 2010

She smiles! And weightier matters.

I LOVE this stage, when they're just starting to smile on command...so darn cute. And you can barely see it in this picture, but she has a dimple on her left cheek. Love it!



And onto the "weightier" things...

We have told some of you of a concern we've had with Claire's PKU newborn screen. There were some abnormalities and we had to have it re-done 3 separate times, along with other blood work and urine testing. We met with a genetic counselor a week ago to go over the results and this is basically where we're at:

Claire's tests suggest that she has a B12 deficiency, but does not have the severe disorder called methylmelonic acidemia (*whew!*). Because of this, the only thing apparently wrong is her inability to break down proteins which is what the B12 does, apparently. So we are going to do what is called the "B12 challenge" and take Claire to the hospital for 4 days in a row to get B12 injections then lab work each day. Then if the labs are showing that the injections are lowering the amount of methylmelonic acid in her body (which is the problem--it's too high) then we will continue with injections (that I will give her daily from home) until her body starts to make the B12 on her own...which is what will most likely happen. The geneticist said that in the other cases she's seen and treated, it has only lasted a few months before the body "kicked into gear". So that's what we're hoping for, just a few months of injections (that will be spaced farther apart as time goes on) until we can eliminate the need for the injections and her body is making it on her own.

So that's great news, in my opinion...(as long as everything goes as we hope it will). I am not looking forward to administering the injections and having to play nurse, but at this point I'll do what I have to do. Thanks so much for your prayers and thoughts! We'll continue to keep everyone updated.

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7 comments:

  1. That does sound like good news all around! I LOVE this stage- they interact but can't yet crawl around and make a mess:). Not to mention, that smile is so precious.

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  2. So glad to hear it! Not perfect news, but good news! Good luck with those injections!!

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  3. Wow - Claire looks so beautiful in this picture!

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  4. whew, i'm sure this has been/is terribly stressful, but i'm glad there's a good option this time. she is terribly beautiful. and i love the shirts you guys made her.

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  5. Okay...you guys are gonna have to come over again soon cause I HAVE to see that cute smile in person!!

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  6. oh I see her dimple --- loud and clear! WHAT A CUTE BABY!!!! Jodie - you guys are the best.

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  7. Glad things are so much better than they could have been. Good luck with the injections . . . I don't envy you for having to do that, but I hope it all goes well.

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