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Enduring a rare disease with no cure

[July 14, 2007] ROCHESTER, N.Y. (AP) -- All three of Darlene Royalty's daughters began to go blind at age 8, victims of a rare and brutal brain disorder with no cure.

Against the odds, Amber, Sandy and Sarah have survived into their 20s. They cannot speak or see, rely on feeding tubes, spend most of their days in bed at their home in tiny Ursa, Ill., and take multiple drugs to control seizures, clear their lungs, and relieve the anxiety or pain that comes with Batten disease.

They were diagnosed within three months of each other in 1995.

"We've been doing this for 12 years -- 12 very painful and very wonderful, fulfilling years," their mother said. "I know there's no hope right now for them. I'm a realist. But maybe down the road, somebody else may be spared all of this suffering."

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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"I think we have the scientific basis for a clinical trial," said David Pearce, an associate professor in biochemistry and biophysics who heads the Rochester school's 2-year-old Batten disease research center. "But there's a lot of very limiting steps. One is I don't have half a million dollars to do it.

"When it comes to a clinical trial, usually there's a big drug company behind it," he said. "This is a rare disease, so actually figuring out how to raise the resources is very difficult."

"It's definitely ignored as far as diseases go because we don't have the numbers that AIDS or leukemia or cancer has," said Karen Upchurch, of St. Petersburg, Fla., whose daughters, Dorothy, 16, and Rose, 24, died a decade apart of Batten disease.

Peg Davis, of Balsam, Minn., who brought her stricken daughters, Holly, 28, and Hannah, 25, to the convention, said that devoting her life to their care is not a burden.

"You get so much joy from them," she said.

But Davis admits she's begun to worry about "every little thing (being) the sign that it's the end" since her eldest, Chad, died of the disease in May 2006 at age 30.

"The last four years of his life, he really went through a lot," she said tearfully. "He had a (heart) pacemaker put in, he had septic shock, he had pneumonia. All those years you're grieving. But when they're not with you anymore, that's when your heart breaks. When they're gone, what is your purpose?"

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On the Net: http://www.bdsra.org

[Associated Press; by BEN DOBBIN]

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