Thursday, March 12, 2009

And now she's 1

Happy birthday to our sweet little Lucy! Today we spent our day quietly celebrating our baby's first birthday. To her it was like every other day in her life except for one difference, whenever any of the kids came near her today they began to sing a rousing chorus of Happy Birthday directly in her face! By the time it came to dessert and to singing happy birthday to her so that we could blow out the celebratory first birthday candle, she had had it with that song. We put her out of her misery by placing a frosted cupcake on her tray to give her the honorable baby's first taste of sugar she so deserves. She smashed it, patted it, picked it apart, and waved her hands covered in frosting around as if it they were covered in yuck, but never really ate it. She tasted just a little bit, but opted not to go for seconds. Sophie sat looking at her with her eyes wide open, it's amazing that those two came for the same two parents. I think that Sophie would have offered to lick Lucy's hands clean if given the chance. In a way I was disappointed that she didn't "whimper" for more because you all know how loaded with calories a frosted cupcake is, several dozen of those babies and I think we would definitely see the numbers on the scale go up. On the other hand, who knows how her GI system would have responded to all that sugar and spice and everything not so nice.



This morning I received a call from the geneticist who works with Lucy's metabolic doctor. He was calling to tell us that Lucy's urine organic acids were normal for the first time in months. This indicates to them that she does not have a fatty acid oxidation defect. This is the confirmation that they have been hoping to see because they did not feel that she fit the profile of a person with a FOD. However, she had another low non-fasting glucose level which means that we now officially need to be worried about hypoglycemia. Hypoglycemia is a symptom of a FOD, and I think also another indicator that something is up with her metabolism, or perhaps it's something else entirely. We are going to need to follow up with endocrinology, there's a surprise(not really). This means that we are on the fence about whether or not to do the skin biopsy. I asked if a skin biopsy can indicate mito, unfortunately it can not. So we are going to wait to hear back from her metabolic doctor tomorrow. If I had to guess right now, I don't think that we are going to move forward with this tomorrow. Yeah, I was not looking forward to putting her through yet another test, but geez could we just have a little clarity. It seems that with every test comes more questions.

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