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
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.
“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
“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.
Copyright © 2006; Used by permission of National Public Radio
Photograph by Kersti Malvre