RARE,
a new feature documentary, follows an 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.

About

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.

 

Filmmakers

Co-Director Maren Grainger-Monsen is a physician, filmmaker-in-residence at Stanford University Center for Biomedical Ethics and director of the Program of Bioethics and Film. She directed Worlds Apart and Hold Your Breath, a large-scale project on cross-cultural conflicts in medicine currently used in 63% of US medical schools. She also directed The Vanishing Line, on end of life issues, which aired on the Emmy award winning national PBS POV series, and Grave Words, which won first place in the AMA film festival. She studied film at the London International Film School and received her medical training at the University of Washington and Stanford University.
Contact: mmonsen@stanford.edu

Co-Director Nicole Newnham is a writer and filmmaker-in-residence at Stanford Center for Biomedical Ethics. She co-directed The Rape of Europa, a documentary about the fate of Europe's art treasures during WWII. The Rape of Europa played theatrically in 80 cities across the country, was shortlisted for the 2008 academy award and was nominated for two national Emmy awards. Nicole also co-directed the Emmy-nominated film Sentenced Home, following three Cambodian refugees in Seattle who are deported back to Cambodia after 9/11. She field-produced the Emmy-nominated film Skin, for PBS and National Geographic, and graduated from the graduate documentary film program at Stanford University.
Contact: nicole@cocofilms.com

Film Credits

Produced and Directed by
Maren Grainger-Monsen & Nicole Newnham

Editor
Andrew Gersh

Director of Photography
Joel Shapiro

Sound Recordists
Michael Seely
Judy Karp
Paul Rusnak
Len Schmitz

Associate Producers
Grace Raso
Michael Seely

Associate Producer for Helianthus Media
Jenni Nelson

Additional Camera
Foster Wiley

Original Music
B. Quincy Griffin

Additional Editing
Greg Sirota

Animation
Jossie Malis

Production Assistants
Elias Castro
Elizabeth Fiedler
Craig Hickerson

Color Correction
Jeremey Lavoi

Transcription
Raina Glazener

Bookkeeping
Carol Wallace
Mark Campbell

Advisors
Mildred Cho, PhD
Alan Leshner, PhD
David Magnus, PhD
Tom Raffin, MD

Special Thanks
The Appell Family
Paula Bailey
Angela Boyce
Hilda Cardona, RN
Anne Crowe
Christie and Jackie Falco
William A. Gahl, MD, PhD
Gretchen Golas, MSN, CRNP
Jeff Grainger
John Haptas
HPS Network Puerto Rico
Heather Kirkwood
Susan Koehn
Raymond MacDougall
Tom Malarkey
Elizaira Negrón-Ojeda
Kevin O'Brien, CNP
Israel Rodriguez
José Salas
Jon Shenk
Sharon Terry, MA
Maya Wolpert


and


The entire HPS community

Production Funding:
The Arthur Vining Davis Foundations
Stanford Center for Integration of Research on Genetics and Ethics
The Greenwall Foundation

Support for Distribution:
Spectrum: Stanford Center for Clinical and Translational Education and Research
with a Clinical Translational Science Award,
National Institutes of Health

The producers would like to thank:
Stanford University Center for Biomedical Ethics
Reveas Foundation
Colleen and Robert Haas

High School version funded in part by:
Science Education Partnership Award
National Center for Research Resources and
Division of Program Coordination, Planning, and Strategic Initiatives
National Institutes of Health

© 2012 Helianthus Media
All rights reserved.