Tuesday, August 21, 2007

Good News!


My niece, Hannah, is the cutest toddler in the world. You think I'm biased because she's my niece. Perhaps that's true, but look at her: can you deny that she at least qualifies in the top 10?

Despite her cuteness, Hannah has had some medical problems. She's 20 months old but only weighs 18 pounds. She's very small and doesn't gain weight quickly (usually no more than a pound between doctor visits, which are at three month intervals). She's seen a gastroenterologist and an endocrinologist to diagnose her small growth. On the Mexican-American growth chart (closest to her nationality, which is Guatemalan), she's only in the 5th percentile. They did a karyotype to diagnose any DNA issues, but that came back normal. We've been told to give her energy supplements and Carnation instant breakfast 4 times a day to help her increase her caloric intake. The suspicion is that she doesn't absorb food well.

They recently requested we have a sweat test performed. The primary diagnosis that comes from this test is cystic fibrosis. I didn't attend the appointment, but they wrapped both of her arms in what looked like tape and had them on for 30 minutes with some electrodes underneath. They then take a measurement of how much sodium chloride is in her sweat. Below 40 is a definite "no" to having CF. Above 60 is a definite "yes". 40-60 requires more genetic testing as there are over 1500 genes involved in CF. We got the results today. Her number was 5!!!

So, praise the LORD! This is a good thing. We were prepared, of course, to deal with any diagnosis, but the last thing we want is for something serious to be wrong medically.

On the other hand, it's a bit of "back to the drawing board" to understand her small size. There was a suspicion when she was born that she was premature, but her birth mother always said she wasn't. Then, of course, there's her nationality to consider. She's Mayan Indian, and they traditionally are quite small.

We're not sure what is contributing to her small size, but we're just grateful that we have a definite answer to something, and a scary something at that.

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