The movie, RARE, follows Donna Appell and her 21-year-old daughter, Ashley, who was diagnosed at a young age with an extremely rare genetic disease called Hermansky Pudlak Syndrome (HPS). Throughout the documentary, Donna and Ashley create an advocacy group that connects them to other HPS patients in the United States (of whom there are fewer than 30) and, thanks to the power that comes with even small numbers, secure funding for a clinical trial that could prolong Ashley's life. A compelling story of hope and overcoming great odds, the film offers a closer look at the relationships between patients, advocacy groups and researchers. Below, Grainger-Monsen discusses the importance of such relationships, the bioethics of rare diseases, and her experiences making the film.
What inspired you to make a film about rare diseases? About HPS in particular?
Nicole Newnham, my co-director, and I began working with Mildred Cho in the Center for Integration of Research on Genetics and Ethics and we were interested in biomedical ethics, specifically in patient advocacy groups and the relationships between patients, advocacy groups and researchers. We began looking for a story about issues with doctor-patient communication, genetic research and the importance of clinical trials. In our research we came across Donna, who was this incredible woman who started an advocacy group when her daughter was diagnosed with a genetic disease when she was 2 years old. Doctors basically told her the disease was so rare there was nothing they could do and she should just go home. We filmed Donna and her daughter and their group for three years as they went through the process of recruiting patients for a clinical trial and following through the trial. What I think is wonderful about the film is how you sort of fall in love with this group. They all have a very serious genetic disorder but they’re all such happy people with a great sense of humor that you’re willing to go along with the ride, plus you get to look into the process behind clinical trials.
What do you think is the greatest challenge for patients diagnosed with extremely rare diseases like HPS?
One of their big challenges is the fact that in general their doctors don’t understand their disease as a whole. As a result, their care gets divided between a lot of specialists and they end up getting a lot of procedures they don’t need because of a misunderstanding of what they have. Whereas if there were a better understanding of the disease as a whole, there would be better treatments. Doctors can’t be expected to know about every rare disease. It’s a question of looking for rare diseases and being aware of them. With rare diseases, there are so few people that have that particular problem there isn’t that lobby to help get research done or to pass certain bills. One thing we discovered was that even though this specific disease is quite rare, the group of people that have rare diseases is actually quite large: 250 million people in the world have rare diseases (30 million in the United States alone).
As a bioethics expert, what responsibility do you feel the medical world has to advance research on extremely rare diseases?
The film touches on why studying a rare disease is useful. Often, in studying this sort of rare disease you gain a better understanding of the more basic principles of bodily function, which can lead to treatments and cures for more common disorders. What I’m primarily interested in is why there needs to be more support for research in general and the benefits that research can have for the community.
What was it like working so closely with Donna and Ashley?
It was a really moving experience to spend time with them. Donna is a constant inspiration. She is a force of energy to contend with and has united this group of people. She constantly finds ways to motivate and help not only her daughter but also every member of the group. She does this through the force of just being hopeful and funny and tireless. She really didn’t give up. I think it taught me and Nicole a lot about dealing with issues in our own lives as well as what perseverance and optimism can do.
Having worked intimately with HPS patients while making this documentary, what message do you want to impart to others diagnosed with rare diseases and the general public?
One message I’d want to give people with rare diseases is to be aware of the power patient advocacy groups can have. These groups can have such a tremendous effect in terms of energizing their community and giving their members support. People in these groups all talk about what a great inspiration it is, after spending their lives feeling so isolated, to be able to come together as a community and know they’re working towards an improvement. So I would hope that other people with rare diseases would seek these groups out. And, at the same time, I want the general public to have a better understanding of why research on health matters that are not considered the most basic and common problems are beneficial to society. I also think that the National Institutes of Health researcher in the film, Dr. Gahl, who was working with Donna’s group, really shows how committed researchers can be. I don’t think they portrayed in this manner very often and I’d like to dispel the idea that they don’t care about the people they’re working with.
The public is invited to the July 13 screening, which starts at 6 p.m. in the Clark Center auditorium.
Previously: Drug companies turning their attention to rare diseases, Survey shows patients with rare diseases and their caregivers are avid Internet users, Patients with rare diseases share their extraordinary stories and FDA helping drug companies develop treatments for orphan diseases
Photo courtesy of Maren Grainger-Monsen