Preparing for #RareDiseaseDay: Do stories change anything?

By Emma Rooney (@blumencasey)

Emma Rooney

A rare disease is an uncommon disorder that on its own affects a minute percentage of the world’s population. Despite this rarity, when you look at rare diseases together, the list of identified diseases grows beyond 7,000 conditions, the highest percentage of these genetic. Rare Disease Day was started in 2008 by EURORDIS (the European Organization for Rare Diseases) to place a spotlight on this often neglected health priority. According to the patient advocacy organization Global Genes, rare diseases affect 350 million people worldwide. While rare diseases are extremely diverse, many people living with a rare disease confront misdiagnosis or having no diagnosis, nonexistent treatment options, and major inequities in accessing care and support. Rare disease groups have a history of banding together and forming umbrella organizations to share best practices and be more effective in working to strengthen the rare disease community. Rare Disease Day invites broad community participation and is a vital opportunity to campaign for global awareness.

This year’s Rare Disease Day comes up on leap day, Monday, February 29th. Patient Voice is the 2016 theme, a fitting selection at a time when rare disease patients, spurred by technology, are connected and contributing to healthcare like never before. Where facts and figures can easily be ignored, sharing stories has always been critical to getting voices heard. You’ll be hard pressed to find anyone saying that patients shouldn’t be listened to. Storytelling has become a much loved buzzword that we can all get behind.

As a rare disease advocate, producing Emma’s Garden: Growing with Gaucher, a digital story of growing up with type 1 Gaucher disease, was a meaningful way to share my patient experience. I later recorded a letter to my parents expressing what the storymaking process had been like and my gratitude to my family for being involved. On many occasions, stating that my interests lie in storytelling has proved to be the perfect conversation opener. In contrast, despite equal passion in presentation, asking for a donation, explaining involvement in lobbying efforts to access a new treatment, or trying to sell research experience, from having been a test subject in clinical trials, has enlisted far less support. Even people who seem never to have given much thought to the world of rare diseases can tell me of an astonishing rare disease story they saw in the news.

Patients are telling rare disease stories all around us. We have a growing number of dedicated rare disease news sites. Rare disease patients are invited to speak at medical conferences and events and to participate on advisory boards. Patients are actively sharing their stories through blogging, social media, online support communities, and crowdfunding platforms. Every website you visit now has a “share your story” button and marketing firms are hunting down engaging patient talent on behalf of the biotech and pharma industry. Rare disease stories have become prolific.

As we count down to Rare Disease Day, patient stories will naturally be encouraged and the reception to stories positive. We also have an opening to think critically about how stories get acted on. Health blogger Annette McKinnon drew attention to this on Twitter stating,

Patients want to be more than catalysts and story tellers. What we know has value for the health system #hcsmca

— Annette McKinnon (@anetto) January 13, 2016

So on Wednesday, February 3^rd at 1pm ET (time zone converter) join the #hcsmca weekly chat to discuss how stories can change things.

In the chat we will cover:

• T1. How do patient stories impact the rare disease community?
• T2. How can we better value patient stories and respond to the insights shared?
• T3. What benefits should patients look for from contributing their stories?
• T4. What stories are missing from the rare disease community and how can we encourage different voices?

Here’s a developing list of where to find online stories from rare disease patients. You are invited to add your favorite sources and places to share stories.