Enduring a rare disease with no cure
Jul. 16, 2007

Batten disease is caused when defective genes fail to make enzymes needed to dispose of waste made by brain cells. The waste piles up in the brain and kills healthy cells until the patient dies. There are some 500 cases in the United States and most victims die before or during their teens. Families cursed with the inherited degenerative disorder come together for a few days each year to sustain one another. They share a grueling ordeal that somehow fills their lives with dignity and purpose. Their three-day "family support" convention in Rochester, which wraps up Saturday, coincided this year with a biennial summit of doctors who specialize in treating the disease and seeking a cure. On Friday, researchers at the University of Rochester Medical Center presented test results on Batten-afflicted mice, hoping the results will hasten the first drug-based clinical trials aimed at alleviating the most common form of the disease, which typically shows up in children age 5 or older. Gene-therapy treatments for younger victims with more aggressive types of the disease are already under way at Weill Cornell Medical College in New York. And stem-cell trials being conducted in Oregon could, if successful, open the door to treating a host of neural disorders.

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