Wednesday, June 01, 2005

False Positive

On May 17th, when Speed and Trixie were still in the NICU at Fair Oaks, we received the results back from the standard screenings that were done on samples of their blood. The state screens for a bunch of different abnormalities and diseases. Adam's tests all came back normal. One of Tessa's tests came back abnormal. She appeared to be missing an enzyme that helps break down lactose, a sugar found in milk. This indicated that she had a genetic metabolic disorder known as galactosemia.

Galactosemia is treated by taking the baby off of milk products, and Trixie was immediately switched to a soy formula. With this treatment, the immediate risk of death or serious complications was reduced to near zero, but there was still the possibility of long-term problems, such as learning disabilities and infertility.

Needless to say, the Missus and I were scared to death, but we didn't panic. The neonatologist, although making no promises, indicated that the test had a large incidence of false positives. Tessa had been on mother's milk and milk-based formulas for two weeks with no problems, another indication that she didn't have a problem. (Also, neither the Missus nor I could think of anyone in our families with metabolic problems.) A retest was sent into the state immediately.

We sweated it out for a week and a half, until we called down to Richmond for the results of the retest. They told us that it appeared Tessa's case was closed, which meant that the retest was normal and the girl was fine, but, they said, we should talk to our pediatrician for the "official" results. It took us almost another week to get the pediatrician's office to confirm that everything was okay, the bastards. The Missus is at their office with Tessa as I'm typing this; she should be given the all-clear to go back onto breast milk today. (Though she has done just fine on the soy formula and is gaining weight like mad.)

So everything is well with our little girl. It did however take some of the joy out of bringing her home, since we were so worried. I guess being worried about our kids is something that we have to get used to, right?

2 Comments:

At 10:34 AM , Blogger Ray said...

You hit that nail on the head. You will always have things to worry about with kids.

2 pieces of advice:

1. Prioritize the worries, not sweating the small stuff.

2. Pick your battles wisely.

 
At 11:29 AM , Blogger Chris said...

Thanks, Ray. Good advice. I would add:

3. Buy lots of Pepto.

 

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