For children with Batten disease and their families, the cruelty of the disease, which robs children of their sight, their cognitive faculties and finally their lives, is made worse by the hunt for a doctor experienced at recognizing and treating patients.
Since the disease affects only about 1,000 children in the United States, most doctors have never seen a child with the disease – for families that usually means a string of referrals from doctor to doctor who try to pinpoint the cause of the child’s symptoms.
Scientists and physicians at the University of Rochester Medical Center are out to change that. They’ve established a Batten Disease Diagnostic and Clinical Research Center, a one-stop medical resource for children and families affected by the disease. The center’s resources include genetic testing for the disease; visits with doctors who have seen dozens of children with the disorder; information on what families can expect as the disease progresses; and development of research tools to help scientists seek better treatments or a cure.
“When we started this project, our doctors said that they had never seen a child with this disease. I told them that I could put them in a room with so many of these children that instantly, they will have seen as many children with this disease as anybody else. And that’s what’s happened,” says David Pearce, Ph.D., a biochemist and Batten disease researcher who pulled together the team that founded the center.
Pearce is the scientific adviser for the Batten Disease Support and Research Association (BDSRA), which is funding the center. For the past three years he and other scientists from the university have attended BDSRA’s annual meeting, first in Toronto and then Detroit and last year in Kansas City. At each stop a team of neurologists and neuropsychologists mostly from Golisano Children’s Hospital at Strong have met children with the disease, evaluated them, and offered help for their families.
The new center is headed by pediatric neurologist Jonathan Mink, M.D., Ph.D., who is chief of the Division of Child Neurology. Mink, an expert in movement disorders in children, attended his first Batten conference soon after arriving at the university in 2001.
“I found that my interest in the disease increased substantially after I met with some of the families and their children,” he says. “I recognized how remarkable these families are, taking care of their children and supporting research and looking for better treatment options for a devastating disease.”
Now Mink is part of a team of medical professionals who have taken Rochester’s neurological expertise on the road and examined approximately 50 children with Batten disease. In addition to Mink and Pearce, the group includes neurologist Fred Marshall, M.D.; pediatric neurologist Jennifer Kwon, M.D.; neuropsychologist Heather Adams, Ph.D.; pathologist Paul Rothberg, Ph.D., who has developed a genetic test for the disease; pediatric nurse practitioner Amy Vierhile; and project coordinator Lisa De Blieck.
The team has developed a prototype of a “clinical rating scale,” a way for doctors to chart and document the health of a child as Batten disease progresses.