Monday, February 21, 2011

Follow Up

Today we went to see Dr. Niyazov (geneticist) for a follow up appointment. After the visit in November, he took a lot of blood and sent everything out to get tested. It was a lot of chromosomal stuff and took a while to get the results. Well, they came in and we went over them today.

It appears that everything is normal, chromosomal-wise. At this point the diagnosis is ketotic hypoglycemia. It seems that this is basically what's left when other disorders are ruled out. Now, he also mentioned Glycogen Storage Disease Type O. He didn't diagnose him or anything, but I guess it's a possibility. I honestly don't think it's that black or white. If you're interested, you can click on the link...but honestly, I don't think it really matters. Either way, we have to be mindful of his glucose and make sure he eats regularly. If he gets cornstarch before bed (we usually put it in oatmeal or yogurt) and he's not sick, then we won't have to really check his glucose.

To tell you the truth, I have to feel really comfortable to NOT check it. I just feel like since it doesn't wake him up...what's the harm? I mean, seeing my child seizing is not something I want to see again. If a simple poke on the finger helps to prevent that, then why not?

The doctor was very pleased with Isaac's development so far. His weight and height are good on the charts so even though his growth hormone is a little low, he's not concerned. His head circumference is almost on the charts now (it was over). Also, he was very pleased with the improvement of speech. So even though we don't really have answers, we're relieved. If it is ketotic hypoglycemia, it's something he'll grow out of. Thanks for all your prayers!

Here's a video of Isaac in the doctor's office. Andrew's been working with him to say "I love you." Halfway through he stopped and said "cheese" for the camera, thinking I was taking a pic. haha. he is TOO cute.

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