Families living with unusual health conditions say the rarity of leap day is a great time to draw attention to rare diseases.
Susan Dickinson leads the Association for Frontotemporal Degeneration, which works for families affected by the progressive brain condition.
“Think about it,” Dickinson said. “If you were diagnosed with something you’d never heard of, one of the first things you’d do when you came home from the doctor’s office is go on the Internet and search. ‘What the heck is frontotemporal degeneration?’ Well, the first thing that pops up on a search like that is our organization.”
Dickinson says her group in Radnor, Pa., and other such advocacy groups have struggled to get pharmaceutical and biotech companies interested. But, she says, they are helped by the U.S. Food and Drug Administration, which sometimes makes accommodations to lower the cost of drug trials for conditions that affect only a few hundred people.
Many research teams work on a specific rare disease. In Philadelphia, the University of Pennsylvania has created a hub to combine funding and science expertise for all rare diseases.
Immunologist Glen Gaulton, executive vice dean and chief scientific officer, says the Center for Orphan Disease Research and Therapy helps search for genetic clues.
“The center provides the resources so that an individual could, for example, contribute cells from an individual afflicted with the disease, and the center would perform the sequencing, the analysis of the DNA to determine where the changes existed,” Gaulton said.
A disease is considered rare if it afflicts fewer than 200,000 Americans.
For families dealing with a rare disease diagnosis, it can be hugely frustrating not knowing anyone else living with the same condition. Feb. 29 — leap day — has been designated Rare Disease Day in an effort to ease some of that isolation.
“We’re engaged in advocacy and awareness efforts every day of every year but we try to take special advantage of Feb. 29 and the rarity of leap day, and kind of align it with the rare disease community,” Dickinson said.
Dickinson’s group is a clearinghouse for information and research news. In recent years, she says, social media have helped many people build support networks.