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.
“There is some hope for treatment of this condition, but without a rating scale, we’d never know if a treatment works or not. There would be no way to evaluate it,” Mink says. “So this is a necessary step toward someday treating these children effectively. Oftentimes when you’re dealing with a rare disease where the prognosis is dismal, it’s difficult to get reliable information. A doctor might tell the parents that he will put their child on medicine that might help. Then the parents look for improvement, and their expectations color what they see.”
The rating scale is geared toward children with the most common form of the disease, known as juvenile Batten’s disease, which first affects youngsters around ages five to eight. (The other two forms, infantile and the late infantile, normally strike earlier.) Most often the first symptom is some loss of vision, and ultimately patients die, usually in their late teens or early 20s. In between, the journey differs from child to child. Children generally go blind, lose their ability to speak or reason, are beset by seizures, have difficulty moving, and usually end up in a wheelchair.
While some children have only physical symptoms, many also develop an array of behavioral problems that can include anxiety, problems with mood and attention, and obsessive-compulsive tendencies. “What will happen as the disease progresses is unpredictable, and this can be difficult for parents to manage. These children can be exquisitely sensitive to changes in their routine or environment. It’s quite a burden for caregivers,” says Adams.
The symptoms stem from a toxic accumulation of cellular waste that ultimately kills brain cells. Pearce’s research group has published more than 30 papers about the basic mechanisms of the disease and has discovered that the genetic flaw at the root of the disease seems to affect the level of the amino acid arginine in cells. Pearce’s laboratory is continuing its research and hopes some day that its findings may make possible a clinical trial aimed at testing a better treatment for Batten disease.
“This is a disease for which there was no hope for many years. Now, with the various research advances, there is some hope. To be able to investigate treatment options for children with this condition is a wonderful opportunity,” Mink says.