Ron Bartek had never heard of Friedreich's ataxia (FA) in 1998 when his stepson Keith Andrus was diagnosed with the rare genetic
disease at age 11 after three fearful years in a medical wilderness. "My wife called me right after leaving the neurologist's
office, crying like a baby," he recalls. "I asked, 'Well, what pill does he take?' and she said, 'There's no pill, no treatment,
nothing.'" That night, the Barteks shared a chair searching the Web for information about the disease. "We saw all the bad
news—the horrific prognosis and not even any research into possible treatments," Bartek recalls. Friedreich's ataxia is a
degenerative disease, targeting mainly nerve cells and the heart muscle; many patients die in early adulthood, but not before
losing the ability to walk or talk or worse. "The only hopeful information was that a year earlier, the gene that caused the
disease had been identified," says Bartek. "We thought, 'If we can start an organization, maybe we can get a drug based on
Ron Bartek, FARA
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
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.)