RARE, a new feature documentary, follows an inspiring and extraordinary mother in a race against time as she unites a group of isolated people from around the world in a quest to cure her daughter’s rare genetic disease. Together, they discover that community, laughter and hope are some of the greatest therapies. When Donna Appell learned that her baby daughter Ashley suffered from a rare genetic disorder that would kill her in thirty years, she was told there were less than thirty people in the US who had been diagnosed with it and no one knew where to find them. Realizing that no one was going to help cure “just one child,” Donna set about forming an advocacy group and harnessing the internet to gather as many patients as possible who suffered from Hermansky Pudlak Syndrome (HPS), which includes albinism, blindness, a bleeding disorder and often a fatal pulmonary fibrosis.
Filmed with intimate access over three years, as the clocks tick and the stakes get higher, RARE follows Donna and her advocacy group as they travel to Puerto Rico and throughout the US in a race to fill a drug trial they hope could prolong her daughter’s life. Along the way we become part of a sweet love story when Donna’ daughter Ashley falls for an earnest young man who has the same fatal disease.
Watch Thursday, October 4, 2012 at 8:30pm.