Know your enemy, we tell ourselves; knowledge is power. Laurie Hunter wanted to know what disease was attacking her daughter Amanda, who by the age of 2 months was not developing normally. Her muscle tone was low. She wasn't lifting her head. She was slow to talk, and she didn't walk until she was 2.
"As a mother, you know that everything that happens to your child is not your fault, yet you still feel responsible," says Hunter, 42, a high school English teacher who lives in Jackson, N.J. "We turned to genetic testing because I wanted answers." The first tests, done at the Children's Hospital of Philadelphia (CHOP) when Amanda was 4, came back normal. So did another round when she was 9. Doctors could not figure out what was making Amanda weak--even as she got weaker and slower and stopped being able even to blow her nose. "It's like her muscles are getting tighter and not moving in the way they should," Hunter said. But the doctors held out hope. Genetic testing grows more sophisticated every day, they said, allowing researchers to explore a child's health down to every last typo on a chromosome.
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Posted December 20, 2012 at 8:05 am
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