Saturday, October 18, 2008

Just hanging out

Not much is going on right now. Well, a lot is going on: eating, sleeping, crying (usually just Nora), and changing diapers! We're still waiting on the results of the follow-up galactosemia test, it'll be one week this Monday and unfortunately "about a week, maybe less" is the only information we got about how long it'll take.

Nora is taking her soy formula just fine now, but we're hoping that she'll be able to return (at least partially) to breastmilk soon. Her initial screening results showed low galactose enzyme (GALT) levels of 2.4 U/gBH but her accumulated galactose levels were normal. NJ considers this to be "presumptive positive" but this is only a screening, it's not diagnostic. At 2.4, Nora's GALT levels are not low enough for her to be considered a classic galactosemic: if anything, she has the duarte variant.

Duarte galactosemics only need to avoid galactose (dairy/breastmilk, some legumes and tomatoes) for the first year of life, and depending on the enzyme activity level, may only need to limit intake, not completely eliminate it. In NJ, the incidence of duarte is 1 in 4,000-5,000, and luckily the only known complications are cataracts, which is much better than what classical galactosemics have to deal with.

But regardless of how this turns out, Nora is absolutely fine. She's doing very well and is already having more and more awake time each day. She's looking around with more intent (looking directly at us and the cats) and keeps holding her head up a lot. She's a lot of work, and having this diagnosis hanging over our heads is just adding to the stress, but she's absolutely wonderful and we love having her around.

1 comment:

Laurel said...

Carrie, Chris and Nora,
Our thoughts are with you as you wait for the results of the test and hopes that, whatever they are, your family continues to prosper! We can't wait to see more pictures.
Per, Laurel and Isla