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 were known to have it and no one knew where they were located.
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. By the time Ashley turns twenty, Donna, under insurmountable odds, has achieved something incredible: the advocacy group she started is now in the hundreds and the NIH has agreed to start a clinical trial.
Filmed with intimate access over three years, as the clock ticks 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’s daughter Ashley falls for an earnest young man who has the same fatal disease.
RARE takes viewers into the world of what it is like to live with a rare genetic disease, visiting Donna’s annual conference, which unites HPS patients and their families with the doctors studying their disease, and opening an intimate window into the world of clinical trials. We also see how patient advocates are joining together to increase their influence – following Donna’s group as they lobby congress on Capitol Hill along with members of other rare disease groups.
We learn that while the diseases may be rare, there are over 30 million people in the United States that have some sort of rare disease and more than 250 million people in the world suffer from one. As Donna finds out that Ashley herself must be excluded from the trial, RARE puts into relief the importance of hope, love and perseverance in the face of impossible odds.