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.
Unfortunately, reading the article requires a subscription to TIME, and I’m not a subscriber.
Here is some more information on this case:
http://healthland.time.com/2012/10/24/the-trouble-with-my-daughters-dna/
I suppose genetics thinking involves the idea (or the temptation) that what we are as people consists in blueprint of two very long helical molecules tied together and self-replicating. If our genes are sequenced, we seem somehow to be reduced to being regarded as our potential diseases and conditions, particularly if they are untreatable. I do hope and pray this mother is able to help her daughter through this process.