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Genetic screening may be mandatory in California

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SACRAMENTO, CA -- ALD is a disorder that affects mostly boys.  It causes deterioration in the brain, nerves and adrenal glands.  On Thursday, families who live with the condition joined lawmakers in Sacramento, to support mandatory screening.

They say an early diagnosis is crucial for patients, and would have helped 10-year-old Jeremy Hill, who's now blind. "If you don't catch it early on, the disease is progressing but may not necessarily be systematic. By the time the symptoms start showing up as you've heard from the families if people don't make the diagnosis you can't really roll back the problems, says Assemblymember Richard Pan-(D) Sacramento, pediatrician. 

ALD is often mis-diagnosed as ADD, because the first signs are behavioral.   The disease rapidly leads to a vegetative state and ultimately death.

But experts say it can be treated with a bone marrow transplant, so early diagnosis increases the chance of finding a donor match.

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