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Batten Disease Unites Parents, Dog Owners

Annie Allio (seen in previous photo) has five other siblings. Her 16-year-old sister Catie (seated) also has Batten disease. Other members of the family gathered behind her are (from left), Amy, 11; Kelly, 19; mother Kathy Allio; and Kerri, 14.
Cindy Carpien, NPR /
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Annie Allio (seen in previous photo) has five other siblings. Her 16-year-old sister Catie (seated) also has Batten disease. Other members of the family gathered behind her are (from left), Amy, 11; Kelly, 19; mother Kathy Allio; and Kerri, 14.
Marcus Kerner, his wife Joanna Kerner and their 6-year-old son, Daniel, whose symptoms began when he was 2.
Cindy Carpien, NPR /
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Marcus Kerner, his wife Joanna Kerner and their 6-year-old son, Daniel, whose symptoms began when he was 2.
Erika Gaspar poses with her dog, Misha, who is showing a variety of symptoms that may indicate Batten disease. There is as yet no definitive diagnosis for dogs other than a posthumous one.
Ketzel Levine, NPR /
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Erika Gaspar poses with her dog, Misha, who is showing a variety of symptoms that may indicate Batten disease. There is as yet no definitive diagnosis for dogs other than a posthumous one.

In what may be an unprecedented collaboration, a rare and as yet incurable illness has brought together two unlikely communities: parents of children and owners of dogs. The two groups are linked by the fatal illness known as Batten disease.

Batten disease is a rare inherited genetic disorder leading to a breakdown of the entire nervous system. It's entirely likely you haven't heard much about it. Though the numbers are imprecise, it's estimated that about 1,000 children in the United States are diagnosed with Batten disease each year. The disease is even rarer but still present in several dog breeds; among them, the Tibetan Terrier.

The collaboration between the two communities was the idea of Tibetan Terrier owner Stuart Eckmann. Several years ago, he began hearing stories from fellow owners and breeders about an idiosyncratic, late-onset disease in their breed characterized by confusion, loss of motor skills, vision problems and erratic behavior. Eckmann's research led him and others to suspect a rare canine form of human Batten disease.

Eckmann eventually called Lance Johnston, executive director of the Batten Disease Support and Research Association. (Johnston had lost his 22-year-old daughter Lorena to the fatal disease in 1993.) Working on a hunch that something good might come from a meeting of the two communities, Eckmann invited Johnston and other parents of affected children to the 2003 Tibetan Terrier World Congress.

"We were describing an unusual head tilt in the Tibetan Terrier," Eckmann recalls of that meeting, "and one of the parents said, 'I know what that is, that's a mini seizure.' That's the way her son reacted when he was first affected."

Johnston recalls that same moment, a turning point in the collaboration. "All of a sudden people are thinking, 'Wow, here's two very similar things going on and we're learning from each other.' It was like two families coming together."

The two previously isolated groups -- now pitted against a shared disease -- have been exchanging information ever since, and are now funding some of the same research. Dr. Martin Katz, at the University of Missouri, has expanded his studies into human Batten disease to include dogs. His augmented research is funded by the Canine Health Foundation, which stipulates that the only dogs eligible for study are family pets that live at home.

"I thought, 'This is impossible,'" Katz says, referring to a lifetime working with lab animals. "There's no way you can do this type of research that depends on the pet population. But I've learned that it is possible. I was pleasantly surprised."

Katz now has access to a Tibetan Terrier DNA bank, the first breed-specific bank of its kind, which has enabled him to compare genes in healthy and diseased animals. And although his personal priorities remain human well-being, Katz's approach to his work has been radically -- and humanely -- changed.

Copyright 2022 NPR. To see more, visit https://www.npr.org.

Ketzel Levine
NPR Senior Correspondent Ketzel Levine reports for Morning Edition.