Friday, January 14, 2011

No diagnosis

My Sweets has global delays in motor, speech, and maybe cognitive. It's a little hard to measure cognitive without speech. The doc said that if she was just delayed in one thing, they wouldn't worry about it because kids tend to learn one thing at a time. But since she has global delays, that is more concerning. She had her first steps and first words both around 18 months though, and has been really doing a lot of new things since then, so we are seeing a lot of progress now. The big question then, is whether there is something medical going on, or whether she is "just a late bloomer" as so many people like to tell me.

We've had a bunch of tests, including a karyotype (test for things like Down Syndrome), blood tests for muscular dystrophy and thyroid problems, evals for autism and neurology, and everything has tested okay so far. The most recent test was a DNA microarray which tests for small scale DNA copy number variances, and that just came back normal as well. So, we have no answers, but since everything is testing negative, and she is starting to do a lot of new things, we are now on a watchful waiting program and not testing anymore for now. The docs say that even if she were diagnosed with something, we are already plugged in to the early intervention therapies that we would need to get anyway, so the diagnosis isn't as important for now. But a diagnosis could be important later, in order for her to keep getting services once she ages out of early intervention. Or, she could be just a late bloomer and she will catch up by then anyway.

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