Rochester a Mecca for those Fighting Rare Childhood Disease

Scientists and Patients Meet Face to Face at Upcoming Batten Disease Conference

July 10, 2007

"I found that my interest in the disease increased substantially after I met with some of the families and their children. I realized how remarkable these families are..."

Only hundreds of children in the United States today are living with Batten disease, a rare syndrome that erupts with little warning, first stealing their sight, crippling their cognitive and motor capacities, and ultimately, taking their lives.

For these children and their families, the disease is devastating, and for some, its rarity makes finding answers and treatment as vexing as the syndrome itself. But beginning Thursday, July 12, many of them will journey with hope to Rochester’s Hyatt Regency Hotel, 125 E. Main St., for a unique doubleheader that pairs two of the biggest meetings in the Batten community – the 11th International Congress on Neuronal Ceroid Lipofuscinosis (NCL, or Batten disease), a biannual researchers’ convention; and the Batten Disease Support and Research Association’s annual conference, a meeting geared toward affected families.

The two conferences overlap on Saturday, July 14, aiming to connect scientific investigators with the childhood faces of the disease and stoke new ferocity in the fight toward cure and treatment.

Currently, there is none, though researchers, many from Rochester, have found the disease’s root in a genetic flaw that impairs cells’ abilities to rid toxic waste, ultimately killing brain cells. Affected children of the most common form, juvenile Batten disease, show symptoms between 5 and 8 years old, often losing their vision. By the time they are in their late teens or early twenties, most have gone blind, battled seizures, can no longer speak or reason, and die in a near-vegetative state.

As if that weren’t enough, the disease has a tendency to ravage entire families; parents who both carry the defective gene have a one in four chance of giving birth to an affected child. Younger siblings must watch older ones slowly fall victim, meanwhile wondering about their own fate.

Seeking hope, each year almost 400 members of Batten-affected families, including 20 to 30 children with the disease are drawn to the BDSRA’s annual meeting. They come from all parts of the U.S., as well as nations in Europe, Latin America, even Australia.

The meeting offers special sessions on coping skills (separate groups for parents, siblings, even grandparents), stress management tactics and tips for finding support services. It also includes a hotel-based clinic provided by the Batten Disease Diagnostic and Clinical Research Center, located at the University of Rochester Medical Center, which typically sees 10 Batten children throughout the year (that number is projected to soon double or triple, thanks to a recent NIH grant that will assist with patients’ travel expenses). The center expects boom days Thursday, Friday and Saturday, providing evaluations and consultations (including repeat examinations for returning patients) to 25 to 30 children –

as many as are seen in a normal three-year period – at the three-day conference clinic.

“Families visiting Rochester will also have the opportunity to participate in several research studies,” said pediatric neurologist Jonathan Mink, M.D., Ph. D., associate professor of Neurology, Neurobiology & Anatomy at the University of Rochester, who heads the center. “We will also provide them with the most recent information on Batten disease, and we’ll have physicians, a nurse practitioner and a neuropsychologist with expertise in Batten disease available to field questions and provide advice on management of symptoms.”

On Saturday, the two conferences combine: the family-focused BDRSA meeting (held July 12 to 14) winds down, and investigator-heavy NCL contingent (held July 14 to 17) commences. That afternoon, NCL researchers will educate families by presenting novel clinical discoveries and possible therapies; that evening, families in turn will help costume their affected children for a special celebratory parade, followed by a banquet and awards ceremony.

“This conference is the best thing we do,” said the BDSRA executive director, Lance Johnston. “When families meet, it dispels the troublesome notion that they’re the only ones in the world suffering. The parade is really the highlight.”

For clinicians and researchers, the parade is poignant, too.

“I found that my interest in the disease increased substantially after I met with some of the families and their children,” Mink said. “I realized how remarkable these families are, taking care of their children.”

This year’s NCL Congress, which alternates between the United States and Europe, is chaired by David Pearce, Ph.D. a nationally renowned Batten disease expert and biochemist at the University of Rochester Medical Center.

Pearce’s efforts in the disease – serving as scientific advisor for the BDSRA, helping to organize the Rochester-based BDSRA center that Mink directs, and leading a research group that has published more than 50 studies about the disease’s basic mechanisms – have made Rochester a beacon of hope for the hundreds Batten families.

Pearce and his colleagues will introduce their newest research evaluating existing drugs to treat the disease and the recent development of a disease rating scale that is helping in the search for a cure. Pearce’s team is hopeful that these and other new findings to be presented this weekend may lead to clinical studies of potential treatments in children with the disease.

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Becky Jones
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