Battens Disease and the Children's Brain Disease Foundation

Battens Disease and the Childrens Brain Fondation

By Stephen Phillips

J. Alfred Rider, SB’42, MD’44, PhD’51, carved out a successful career after graduating from the University of Chicago.

During the 1950s, he directed a landmark University study corroborating the link between colon and rectum polyps and cancer. In 1960, then at the University of California, San Francisco, he pioneered, with Hugo C. Moeller, MD’48, PhD’53, simethicone therapy for stomach gas, paving the way for antacids like Mylanta. He and Moeller subsequently developed the Rider-Moeller dilator, a device that eases swallowing for people with achalasia, a condition that causes constriction of the esophagus. Later, he was named to, and ultimately led, the Medical Board of California, and counseled three governors of that state, including Ronald Reagan, a personal friend, who as President appointed Alfred to his Committee on Mental Retardation.

But as a young physician-scientist in the mid-1950s, Rider found himself as just another worried parent of a sick child. A previously stellar student, his eldest son Charles, then seven, began having difficulty at school, his eyesight was failing, and he was getting clumsy. Every specialist the family consulted was mystified. The quest for answers took Rider, who died in 2004 at age 83, on a harrowing two-year odyssey that wound up finally at the door of Indiana University neuropathologist Wolfgang Zeman, MD, an expert in a little-known hereditary neurodegenerative disorder called neuronal ceroid lipofuscinosis or Batten disease. “He made a diagnosis,” said Rider’s younger son, Dean L. Rider, MD’78, a gastroenterologist in San Francisco. “This was absolutely Batten disease.”

Batten disease is a particularly cruel blow. In its various forms it strikes children, from infants to adolescents. One variant affects adults. The National Institutes of Health estimates that two to four babies in every 100,000 will develop it. The progression of symptoms is remorseless, and the condition is uniformly fatal. The burden on families is massive; sufferers rapidly become non-functioning, unable to care for themselves.

“You can have a two-and-a-half-year-old who’s talking and running around,” said Glyn Dawson, PhD, professor of biochemistry and molecular biophysics at the University, and a leading Batten disease researcher. “Then suddenly they start bumping into walls and behaving erratically.”

“You go from a normal, healthy child to one who’s deteriorating before your eyes, and if there are younger siblings, the parents begin to wonder if they have it also.”

Mercifully, Dean was unaffected. The family cared for Charles at home (where he lived to 43— thought to be the most advanced age reached by someone with Batten disease). But Alfred Rider’s mind went to other parents in the same position with an afflicted child, trying to get a diagnosis, but without his medical training. “He said, ‘if it was that hard for me to find help what would it be like for [a non-physician],’” recalled Dean.

In 1968, Rider used his savings to launch the Children’s Brain Disease Foundation, a philanthropic fund dedicated to elevating awareness of Batten disease and advancing research into it.

He plowed his earnings into the foundation, and organized golf tournaments, casino nights, walkathons, and car raffles, using the proceeds to fund research. To bring researchers together, he convened an annual conference. “It was the connection with Al Rider, the annual meetings, and the plight of the children that kept us interested in Batten disease,” said Dawson.

Dawson’s introduction to Batten disease came as a young researcher in the early 1970s. A colleague showed him the brain of a 3-year-old who had died of it, and he glimpsed first-hand the devastation it can wreak. Remarkably, the child’s brain contained no neurons — the result of accumulated fats and proteins, dubbed lipofuscins, clogging the brain, depriving its cells of nutrients.

“What…could be happening to cause such massive disruption?” he remembered thinking.

To answer such questions, Rider recognized the need for federal funding, then non-existent for Batten disease.

He tapped his political contacts. Dean Rider joined the effort also. For his senior elective project at Pritzker School of Medicine, he worked in California Sen. S.I. Hayakawa’s office. “The real purpose was to learn how Congress worked in order to bring Batten disease to national attention,” said Dawson.

In 1978, Alfred Rider made the first of several annual pilgrimages to Capitol Hill to lobby lawmakers for NIH support. In 1991, Congress directed NIH’s National Institute of Neurological Diseases and Strokes to earmark specific funds for Batten disease research.

The resulting funding was a catalyst for strides made during the 1990s when researchers identified several genetic subtypes of Batten disease and developed a blood test.

At the University, Dawson’s team, with his son, Philip Dawson, PhD, associate professor of chemistry at San Diego’s Scripps Research Institute, have developed a “molecular chaperone” targeting the specific cellular mechanism that goes awry in some forms of Batten disease. Thanks to a collaboration with the Naval Research Laboratory, they have devised a means by which the drug may be delivered directly to the brain, traversing the blood-brain barrier that has been an impediment to other attempted therapies.  

The work is supported in part by the foundation. Since its inception, the foundation and Rider family members directly have donated $423,266 to the University. At least $371,000 of this has gone toward research into Batten disease, including Dawson’s work.  

Earlier this year, Dean pledged $175,000 over five years to establish an endowment to support the work of Dawson and others at the University in Batten disease.

The Riders ties to the University run deep. Dean is the third-generation University of Chicago-trained doctor in the family: as well as his father, both paternal grandparents earned their MDs from the University. Dean’s mother attended the Lab School. His parents were married in Bond Chapel.

He describes his own time at Pritzker as “the best thing that ever happened to me.”

“It’s a unique place. I just had so much personal growth and when I came out felt ready to take on the challenges of life.”

This sense of connection coupled to the momentum of Dawson’s research made the University a natural fit for the endowment, said Dean.

“With the endowment the foundation has under the banner of the University of Chicago, there will always be money for Batten disease research and things will progress…That’s important because…I’ve seen for myself the importance of [philanthropic funding] as a catalyst [for research and discovery].”