Nowhere does drug development get more personal than in the world of orphan diseases. Some 7,000 rare conditions have been designated by FDA as "orphans"—they have not been "adopted" by pharma because the patient population is too small (200,000 or less) and the R&D investment too big to be sufficiently profitable. As many as 80 percent are hereditary childhood conditions. Our much-touted free market leaves the 25 million Americans who suffer from these diseases out of luck.
Yet the imperative to literally save their child's life has transformed thousands of parents into activists, even if their strategy and style are far more accommodating than the militant, media-savvy demonstrations of their AIDS activist forbearers. From the Abetalipoproteinemia Collaboration Foundation to the Zellweger Baby Support Network, desperate parents like Ron and Raychel Bartek who refuse to take no for an answer have mobilized to put a rare disease on the map. And with the advent of venture philanthropy, a growing number are investing their hard-won charitable dollars in the discovery and development of drugs.Now, 12 years after founding the Friedreich's Ataxia Research Alliance (FARA), the Barteks keep a watchful eye on the progress of 17 experimental FA drugs, including six in clinical trials—a somewhat improvisational pipeline that owes its existence mainly to FARA's own initiative. "Now we can tell a newly diagnosed patient, 'You can get on the registry and be eligible for the first drug in trials,'" he says. (In photo below, Ron and Keith are at Ride Ataxia Philadelphia in October 2009.)