Lorena Ann Johnston was born on Groundhog Day in 1971. Her father remembers that her hair grew in as his was falling out. Her first five years were uncomplicated; sadly, they’d be the only easy years of her short life, which ended in 1993 when she was 22.
Lance Johnston’s daughter had Batten Disease, an inherited genetic defect that leads to a breakdown of the entire nervous system. Lorena’s symptoms began when she was six with vision problems; progressed to trouble concentrating in school; later, seizures; and finally, dementia. Because the disease was so rare and its symptoms easily mistaken for other problems, it took eight long and lonely years for Lorena’s illness to be diagnosed.
Though a diagnosis today may come more quickly, it remains just as tragic. Lorena’s dad, now executive director of the Batten Disease Support and Research Association, is determined that no one will have to go it alone. “I made a commitment to her. I’m not smart enough to go into laboratory and find a cure, so I promised her that I’d do the next best thing and try to help others. And that’s been my focus ever since.”
This dedication led Lance to a family of dogs.
Meet the Family
Tibetan Terriers’ ancestry dates back two centuries, to remote regions in the Himalayas. Imagine an English Sheep Dog shrunk to knee-high size and you’ll have an idea of what a Tibetan looks like. Dozens of these shimmering, healthy, hairy beasts went through their paces at a recent Tibetan Terrier dogfest just outside San Francisco. Lance Johnston was among the more unlikely folks at this regional conference. His connection to these critters goes back three years, to a memorable summer day when he received a call from the Tibetan Terrier Club of America. The man on the other end of the line wanted to talk about a rare but worrying illness in the breed: Batten Disease.
The caller was Stuart Eckmann, who had a hunch that something powerful might happen if the two communities talked. He invited Lance Johnston and a few parents of children with the disease to the 2003 Tibetan Terrier World Congress. Stuart Eckmann’s hunch paid off.
“We were describing an unusual head tilt in the Tibetan Terrier, 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,” Eckmann recalled.
“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,” said Johnston. The two communities have been exchanging information ever since, and have even teamed up to fund some of the same research, hoping that by pooling resources, they can accelerate a cure.
At a subsequent Tibetan Terrier conference, sponsored by the Canine Health Foundation, participants gathered to hear scientists discuss the latest inroads into Batten Disease, among them, stem-cell research. Outside the conference hall, parents of both species mingled, as did their children and their dogs.
Catey Allio is a soft-spoken teenager with Batten Disease; she is wheelchair-bound and blind; six-year-old Daniel Kerner is also in a wheelchair, his limbs and language erratic. Daniel’s father, Marcus Kerner, and Catey’s mother, Cathy Allio, are meeting here for the first time, in a difficult but ritualized exchange. With increasing emotion as he tells his son’s story, Marcus Kerner leans into Cathy Allio’s embrace.
Two of Cathy Allio’s six children have Batten Disease, including her youngest, 7-year-old Annie. She admits she was initially conflicted about collaborating with dog owners, feeling there was nothing comparable about a sick child and a sick dog. “But it wasn’t about a dog or a child and which was more important. It was about fighting a disease.”
Collaboration Brings Comfort
Erika Gaspar feared her dog, Misha, had Batten Disease, and consulted with the “doctor” in this cross-species collaboration, researcher Martin Katz. Dr. Katz was well into his human Batten Disease research at the University of Missouri when he was offered a Canine Health Foundation grant to also help Tibetan Terriers. The caveat: No lab animals. He could only work with the “pet population,” that is, family dogs.
“I come from a background of working with rats and mice [in a] laboratory . . . where you could control everything. I thought, ‘This is impossible, there’s no way you can do this type of research depending on the pet population.’ But I’ve learned that it is possible. I was pleasantly surprised,” Dr. Katz noted.
This research is possible in part because of all the new tools now available, in particular, an innovative Tibetan Terrier DNA bank that has allowed him to compare genes in healthy and diseased animals as well as identify this genetic disorder in several other breeds. While his personal priorities remain human well-being, Martin Katz’s approach to his work has been radically—and humanely—changed.
Unfortunately, given the limitations of current research, Dr. Katz could not give Erika Gaspar a definitive diagnosis for her dog. But though she was sad, she seemed to feel perhaps less burdened, less alone. Which is why this extended family, galvanized by a rare disease, believes it’s onto something. Those affected have reached out beyond their respective boundaries to shepherd change and find a cure.
Owners of Tibetan Terriers needn’t panic about Batten disease. While late-onset Batten has been diagnosed in the breed, the incidence is fairly rare. In fact, the Tibetan Terrier Club of America estimates its occurrence at less than 5 percent. The reason this particular breed figured so largely in this story is the creative advocacy shown by Tibetan Terrier breeders and owners. By collaborating with the human Batten disease community, they’re hoping not only to find a cure, but to gain the tools necessary to test all dogs before they’re bred. In this way, they hope to eliminate Batten disease from the breed. Several other dog breeds have been diagnosed with a similarly small percentage of Batten disease. For more information, contact the American Kennel Club Canine Health Foundation (akcchf.org).
Editor’s Note: The exact percentage of Tibetan Terriers affected is not yet possible to calculate. According to Dr. Martin Katz, of all the samples collected for the breed’s DNA bank since he has been involved, at least 10 percent are affected. However, this late-onset condition manifests at about age seven. If you consider the samples in the DNA bank representing dogs seven or older, the percentage of those affected increases. At this point, and until a marker is found, it’s difficult to determine to what degree the sampling is a representation of the entire breed or skewed toward those who have contributed because their dogs are affected.
Copyright © 2006; Used by permission of National Public Radio