A rare quality: why we can learn so much from the rare disease community.

VML Health CEO Claire Gillis outlines why the rare disease community matters

The rare disease space may be full of variability and complexity, but the community has one thing in common: an unquenchable thirst for information and action. Here are three examples that prove the point.

Augusto was just 14 months old when he died from a rare bowel disorder that had gone undiagnosed. His mother promptly set up an advocacy group to increase awareness of Hirschsprung's Disease.

Brothers Jaxon and Jeren have a complex genetic disorder that’s so rare there isn’t a name for it. But their parents are fast becoming experts in gene research as they look for answers to advocate for their boys.

And then there’s Rain, who – like so many people with a rare condition – was labelled a hypochondriac for years. Eventually diagnosed with Ehlers-Danlos syndrome – a group of disorders with life-threatening complications – Rain’s experiences have motivated her to give voice to others who struggle to get answers. Her new start-up, “We Scream Rare”, advocates perseverance in the long journey to diagnosis.

These real stories shared on the promotional website for Rare Disease Day, offer a glimpse into lives shaped by rare conditions. But they also show how the rare disease community often sets the bar for patient advocacy, education and engagement. We can learn much from it.

People with rare conditions – or their families/caregivers – are ultra-motivated to be educated in their disease. However, with little information out there in the mainstream, they’re typically forced to find it for themselves, or even create it themselves drawing on lived experiences. The approach clearly works, with research indicating that many patients with rare diseases are experts in their condition, sometimes having a greater understanding of it than their physician. This is perhaps not surprising; whereas a doctor might see a particular disease just once in their career, a patient lives with it every day, has a real-world understanding of its full implications and is motivated to find others with a similar disease profile. In rare diseases, the expert patient plays an important role in educating doctors, increasing awareness and driving progress. It’s an example of proactive patient partnership that mainstream conditions could benefit from too. 

Rare disease communities are also trailblazers for advocacy. Patient stories consistently show that life with a rare disease can leave people feeling confused, vulnerable or misunderstood, so advocacy groups provide a welcoming community and much-needed support. However, unlike many of their equivalents in mainstream diseases, rare disease advocacy groups are often tiny organizations with limited resources. They do an incredible job. 

Powered by a passion and persistence that’s a lesson to us all, these groups are laser-focused on the latest research and innovation, championing awareness, and lobbying for change. They’re a valuable source of information for patients, but they also possess a wealth of insight from the patient community itself that can be gold dust when designing new treatments and experiences. If we can leverage that insight, we can help to change lives.

The influence of patient groups in rare disease is growing, but with over 6,000 rare conditions already identified and roughly 1 in 17 of us (300m+) affected by one, we need to do more to help. If we want to improve experiences and outcomes for people with rare diseases, we must work harder and closer with patients to elevate their voices and make sure they’re heard. 

In the past few years, we’ve partnered with some amazing patient organizations in the rare disease space, building communities and platforms with them to help inspire change. For example, our work with Foundación PKU to raise awareness of phenylketonuria – a rare disease where the wrong food protein intake can cause irreversible brain damage and even death – is helping to raise funds for a biosensor device that could reduce the risks to patients. 

Similarly, our partnership with Biogen and FundAME is driving awareness of Spinal Muscular Atrophy (SMA). The Invisibles, our award-winning film for SMA, features a real patient who can’t do anything without her carer, but sometimes just wants them to be invisible. More recently, we’ve created ‘Not a Lonely Journey’, a collection of travel guides to help HCPs appreciate the full potential of SMA patients and inspire them to push the boundaries of what they think they can do.

These campaigns show what’s possible when we work in partnership with highly engaged patients to find solutions that help improve lives. In this regard, the rare disease community – with its unremitting desire for information and action – is an example to us all. Because the answers to patients’ problems, no matter how rare, won’t come from guesswork, they’ll be hidden in the real human stories of people like Augusto, Jaxon, Jeren and Rain. Let’s find them and work with them to design a brighter future for all.