Two US filmmakers have produced a documentary on Hermansky-Pudlak syndrome (HPS), a rare disease. This film highlights the issues faced by all of us with rare diseases.
Like Birdshot, very few doctors have heard of HPS, and no-one knows how many people have it. Getting diagnosed is difficult, and finding some-one else with the syndrome is difficult, so it is a lonely path people tread. They also point out that there are no disease specific medications (just like for Birdshot). We Birdshotters at least have an organisation (BUS) that lets us connect with other Birdshotters!
The film points out that whilst each rare disease is uncommon, if you take all rare diseases together, they are very common. It also explores the way that patients, once diagnosed, connect with others. They highlight a similar development to BUS for each of the rare diseases, and how the internet has helped in this.
The most interesting part of this film follows a parent of a patient with HPS as she tries to find other patients to participate in a clinical trial to test a new drug.
It is a really moving film. To see the full article go to: