News from Democratandchronicle.com July 9, 2007

Batten disease: Looking for a cure
Batten disease conferences bring together families and researchers in Rochester
Chris Swingle
Staff writer

(July 9, 2007) — Kristin Coon is both looking forward to, and dreading, international conferences on Batten disease being held this week in Rochester for the first time.
The Clarkson mom welcomes the chance to reconnect with dozens of families who, like hers, have been affected by the rare, fatal neurological disease, which most often strikes in childhood. And she appreciates hearing about the latest research, which will include promising results from mouse-based studies at the University of Rochester Medical Center.
But the memorial wall of etched names — including that of her daughter, Leah McFarlane, who died at age 15 in 2002 — always takes Coon's breath away. "You just look at all those names," says Coon, 42. "It's just overwhelming."
The annual family support conference and biennial scientific conference are usually in separate cities at separate times. But this year, for only the second time ever, the two overlap in the same hotel. Families and scientists hope the chance for 130 attending researchers to meet about 85 families affected by Batten disease will further inspire efforts to find treatments and, someday, a cure.
Batten disease is actually a group of inherited, degenerative diseases named for the British physician who described them in 1903. It affects a cell's lysosomes, which digest food particles and worn-out cell parts. When these cleaning factories don't work properly, toxic substances build up and kill cells.
Batten disease causes blindness, seizures, and mental and physical decline. Few affected children live much past age 20.

Leah was healthy until she began having vision problems at about the age of 6. It took years to diagnose juvenile Batten disease, the most common form.
The main forms of Batten disease vary by age of onset and which gene is damaged. They include forms that strike in infancy. Symptoms are often first mistaken for epilepsy, mental retardation or — as happened with Leah — retinitis pigmentosa.
Most doctors have never seen Batten disease because it affects only about three in 100,000 children born in the United States.

On top of the disease's looming decline are the daily challenges. Often, Leah would scream, for hours, inconsolably, day after day. Screaming isn't the most common symptom in Batten disease, but is one of the most disturbing to deal with.
"It's a nightmare," says Coon, president of the Upstate New York chapter of the Batten Disease Support and Research Association, which sponsors the family conference. "You still think, 'Somebody must have made a mistake. This can't be happening.'"
Leah had been a happy youngster who loved the water, music, coloring and Barbies. Through her illness, she loved Disney videos and Beatles music. She declined rapidly, needing a wheelchair when she was 12 and increasingly losing control.
Coon felt guilty because the disease is inherited, although she and her ex-husband had no idea they were carriers before Leah was diagnosed. Coon isn't sure she would have had any more children had she known she was a carrier in time.
Coon's daughter, Lindsay, is 18. Coon and her husband, Tim Coon, have a son, Timmy, who's 10. Both children are healthy.

Carrier and prenatal testing is now available for some forms of the disease.
Rochester has become a focal point nationally for juvenile Batten disease because of the researchers and clinicians here. David Pearce, assistant professor in biochemistry and biophysics at University of Rochester Medical Center, began research on the disease in 1996.
Pearce says he was spurred by the birth of his own, healthy son and by meeting some families affected by Batten disease. "It could be me," he says. "It could be anybody who has a child, whose life ebbs away."
Pearce leads a team of about 12 researchers, including students, at the Batten Disease Diagnostic and Clinical Research Center at University of Rochester Medical Center, established in 2005.
About a dozen labs in the country work on various aspects of Batten disease. Gail M. Seigel of Brighton, a researcher at State University of New York at Buffalo, studies retinal images of children with Batten disease and their family members.
Rochester's research center is unique in also incorporating physicians who see patients with the disease, Pearce says. Some families travel here from as far as California, or their doctors consult Rochester physicians by phone.
The center gets about $500,000 in government funding and about $50,000 in foundation grants.

There is no cure on the horizon. But, Pearce says, "For the first time, I'm very, very optimistic we'll be able to move to a clinical trial soon." Clinical trials would examine drugs to treat the disease and possibly slow its progression. Pearce says his team has seen encouraging results from two drugs used in mouse models. One attempts to suppress an autoimmune component of the disease. The other aims to prevent damage that may cause seizures.
There are already stem-cell, gene-therapy and drug trials for other forms of Batten disease.

Dr. Jonathan W. Mink, chief of child neurology at URMC, says having the conferences in Rochester puts this city on the map better with families and other researchers. It's also a chance to recruit more families for research studies here.
Coon will be wearing an angel pin at the conference, like other parents who've lost a child to Batten disease. She'll attend with her family — including daughter Lindsay, recent valedictorian at Brockport High School who is in her third summer volunteering with Batten disease researchers at URMC.
Lindsay, who plans to study molecular and cell biology at Harvard University this fall, is glad to help make progress on the disease that killed her sister: "I think the worst part was watching her lose herself."
CSWINGLE@DemocratandChronicle.com  
 

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