Event Highlight: A Rare Film Experience

©2012 Jupiterimages
The Seattle Science Festival is this month. It’s the first science festival here, in honor of the 50th anniversary of the Seattle World’s Fair. A few nights ago I attended one of many events happening at the Seattle Center and around town. This one was sponsored by NWABR, the Northwest Association for Biomedical Research. It was a screening and panel discussion of the documentary, Rare.

Rare tells the story of the patient advocacy group for Hermansky-Pudlak Syndrome (HPS), a one-in-a-million recessive genetic disease that causes albinism, blindness, prolonged bleeding, inflammatory bowel disease, pulmonary fibrosis, and early death.

HPS mother Donna Appell is the heart of the story. When her baby was diagnosed with HPS, she couldn’t just wait and hope someone would think of a treatment. Donna searched for others who had HPS, and when she found some, she made a cold call to the NIH and recruited the help of Dr. William Gahl, Clinical Director of the National Human Genome Research Institute (NHGRI).

While Donna started the HPS Network, the NHGRI research team took care of the HPS patients. Soon the team identified a potential treatment. Now patients who had HPS were needed for a clinical trial. Donna kept searching, even traveling to a corner of Puerto Rico where the incidence of HPS is 1 in 1600.

The clinical trial began, and the film shows participants coming to the NIH for blood draws, pulmonary function tests, and MRIs. The study needed more participants and the HPS Network kept recruiting.

Meanwhile, HPS Network membership was growing. The annual meeting is larger every year. Researchers provide updates, and patients and families share their stories and coping strategies: Who got a lung transplant? What make-up covers dark circles under the eyes? They held a festive dance and talent show. 2013 will be the 20th annual HPS Network meeting.

Back to the clinical trial. Several years in, an interim look at the data found that the study was too small ever to show whether the medication works for HPS. Everyone was disappointed when the trial ended. One participant was surprised when she finds out on camera that she was taking the placebo.

At the next annual meeting, a participant in the trial presents Dr. Gahl with a quilt made by the HPS community. The doctor fights back tears as his patient tells him, “It doesn’t matter that the treatment didn’t work and the trial ended. What matters is that you helped us and we did it. Thank you. You are my hero.”

After the film, NWABR facilitated a discussion by a panel of experts including Malia Fullerton from UW School of Medicine, Dept. of Bioethics and Humanities; Benjamin Wilfond, Director of the Treuman Katz Center for Pediatric Bioethics, Seattle Children’s Hospital; Rare producer, Maren Grainer-Monsen, physician, Director of the Program of Bioethics and Film, Stanford University Center for Biomedical Ethics; and HPS patient Heather Kirkwood, Vice-President of the HPS Network who was featured in the documentary.

I already knew how clinical trials work: Participants have to meet the study criteria. Nobody knows whether they’re taking the treatment or the placebo. Clinical trials look for benefit to the whole treatment group, not for individual participants, the trial is for future patients and not likely to help participants.

But watching Rare brought these abstract truths to life. What a terrible disappointment for Donna Appell when her own daughter didn’t qualify for the study. We watched a participant monitor her symptoms, trying to guess whether she’s taking the treatment or the placebo. Researchers got to know the patients and worried about losing their objectivity. The clinical trial dragged on while precious time passed, patients got sicker, and some of them died. It was heartbreaking when, after all the effort to hold a clinical trial, it ended early. The film shows the toll of having a chronic disease, and the additional burden of having a rare disease.

The film will be shown in Seattle on KCTS, Channel 9, at 10pm on August 26th. There’s more information and a short film clip at www.rarefilm.org. Learn more about HPS at www.hpsnetwork.org/



  1. THANK YOU ... I am so happy to see that people are watching this, and even more happy that you took the time to blog about it. My grandaughter who is 4 now was diagnosed at 6 months with HPS5, after repeated reports to CPS about her bruising and her extreme sensitivity to light, I did hours and hours of research, the first diagnosis of albinism came at 6 months old, but we still had no idea why the bruising, I spent hundreds more hours on the internet researching, and finally came across HPS as a possibility, Without Donna Appell, Heather Kirkwood, and the countless others who spread awareness, and the HPS Network, we may have never found the reason for her bruising, I thank them everyday for all their hard work and dedication to HPS, keeping us informed and providing endless support to families... Thank you again for this wonderful blog and your part in helping to spread awareness. Mari Moody, Grandmother of Damaris.

  2. Update - The RARE documentary will be shown this Sunday night, August 26th from 11pm-midnight on Seattle/Tacoma public television, KCTS Channel 9.