“The patients taught me”

Consider yourself fortunate if you’ve never encountered the rare hereditary disorder called familial dysautonomia (FD). A neurological disease that affects a small number of infants of Jewish descent, FD is both “frightening and life-threatening,” says Felicia Bliss Axelrod ’62, who has focused on it with laser-like intensity for the past thirty years.
A physician and professor of pediatrics at New York University, Axelrod is director of its Dysautonomia Center and an internationally recognized expert on FD. When she returned to campus this fall to receive a Periclean Alumni Scholar Award, her acceptance remarks—delivered in her clear New York accent—held Gannett Auditorium spellbound.

Felicia Bliss Axelrod '62

In babies born with FD, she said, there’s a failure of the autonomic nervous and sensory systems that usually run complex bodily functions as if by autopilot. Some FD patients can’t feel pain or distinguish between hot and cold. They may cry without tears, have difficulty sucking and swallowing, or suffer from intractable vomiting, repeated pneumonias, blood-pressure fluctuations, and heart arrhythmias.
Axelrod hadn’t planned to concentrate her career on FD. But after earning a B.S. in biology and chemistry at Skidmore and an M.D. at NYU, she completed a pediatric residency in 1969 and was asked to work with FD patients. “There wasn’t much about FD in the clinical textbooks, and 50 percent of patients didn’t survive past their fifth birthdays,” she said. While research into FD was abundant, she found that comprehensive patient-care information was not. “But I listened carefully,” she recalled with a smile, “and the patients and their parents taught me.”
Within a year, Axelrod had founded the Dysautonomia Center, where she searched out, provided, and documented treatments that have strikingly improved survival rates and quality of life for affected children. “Today, 50 percent of patients actually pass their fortieth birthdays,” Axelrod announced. Last spring, the gene that causes FD was found; now a simple test can detect carriers, and a cure may lie ahead. Meanwhile, the center provides evaluations and personalized treatments for hundreds of patients each year.
A recent editorial in the Journal of Pediatrics lauded the center’s results, noting that patients with genetic metabolic disorders like FD have the best long-term outcome when their doctors are guided by various “centers of excellence” like Axelrod’s, which “provide the benefits of state-of-the-art knowledge and technology.”
Married to fellow NYU professor and physician Robert Porges, and the mother of two children, Axelrod commented on the rewarding irony of pursuing one special disorder. “Rather than limiting my scope, my career represents an example of how focused and concentrated thinking in a specific area can actually broaden and enrich one’s life. Learning,” she added warmly, “is like that.” —BAM