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RARE follows an extraordinary mother in a race against time to find a treatment for her daughter's rare genetic disease.

When Donna Appell learned that her infant daughter Ashley had an extremely rare genetic disease that would kill her in thirty years, she set out to track down every person in the world with Hermansky-Pudlak Syndrome (HPS). Realizing that no one was going to help cure 'just one child,' Donna forms an advocacy group and travels throughout the US and Puerto Rico to gather as many patients as possible who suffer from 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 by award-winning filmmakers Maren Grainger-Monsen and Nicole Newnham, RARE follows Donna Appell and her daughter Ashley into the world of clinical research, patient advocacy, and through the course of a NIH clinical trial as Ashley falls in love for the first time.

'Here's the irony: there are a lot of those patients [with rare diseases]. While the number of people who suffer any specific disease is small, more than 30 million Americans are thought to have a rare disease. And though their symptoms and prognoses may be vastly different, they all share the isolation and lack of medical support endemic to suffering a disease few people have and no one knows anything about.' -Erin Allday, San Francisco Chronicle


Main credits

Grainger-Monsen, Maren (Director)
Grainger-Monsen, Maren (Producer)
Newnham, Nicole (Director)
Newnham, Nicole (Producer)

Other credits

Editor, Andrew Gersh; director of photography, Joel Shapiro; music, B. Quincy Griffin.

Docuseek2 subjects

Distributor subjects

Closed Captioned
Fanlight Collection
Health Care Issues
Health Issues


Hermansky-Pudlak Syndrome; HPS; genetic disease; advocacy; NIH; Donna Appell; ,"Rare",Icarus Films

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