Lesser spotted, but loud and proud: elevating the patient voice in rare disease

By Caitlin Rich, Research Associate Medical Consulting and Patient Partnerships, VMLY&R Health

“When you hear hoofbeats, think horses, not zebras.” This colorful phrase – widely attributed to a US Professor of Medicine in the 1940s – is standard advice for medical trainees, encouraging them to start with the most likely possibility when considering a diagnosis. The rationale is understandable but by no means infallible. Because there’s an awful lot of zebras out there.

It’s thanks to that classical medical training that rare diseases are sometimes known as “zebras”. They’re certainly lesser spotted. But, 40 years after patient power led to the introduction of a US law incentivizing the development of drugs for rare conditions, the vast majority of rare diseases still don’t have an available treatment. It’s time we cranked up the volume to raise awareness further.

If we’re going to make progress, patients will need to play a prominent role.

Right now, more than 300 million people are living with a rare disease. And they’re just the ones we know about. To date, over 6,000 rare diseases have been identified, with many more being described on a regular basis. Although it’s rare to have any one of these individual conditions, rare diseases in general are more common than you’d think, affecting roughly 1 person in every 17.

Despite this, research and awareness of specific rare diseases remains low. Generally, people campaign for that they are personally connected with). As a result, the spotlight typically falls on more common diseases – like cancer or heart disease – while less prevalent conditions miss out. The struggle for profile inevitably leads to gaps in medical education and research that impact care and quality of life. On average it takes over 4 years to receive a correct rare disease diagnosis – delaying treatment (if one exists) and risking irreversible damage. 

So how do we improve this? One approach is to maximize patient communities, giving them voice to inspire change. It’s obvious, right? After all, patients with rare diseases – and their families/carers – are experts in their condition. Whereas a doctor might see a particular disease just once in their career, a patient lives with it every day – and they’re often laser-focused on the latest research and innovation. These communities can play an important role (with specialists) in educating HCPs and driving awareness. They simply need the platform.

Rare disease patient groups provide community and support for people with rare conditions, many of whom can feel isolated, alone and misunderstood. They’re also a valuable source of patient-friendly information. Likewise, patient groups are often a source of funding for research that isn’t prioritized – furthering understanding of the pathology of disease and helping unlock new diagnostic tests and treatments. Crucially, these groups possess a wealth of insight from the patient community that can be much harder for researchers to gather due to the rarity of the condition. If we can harness that insight, everyone wins.

The influence of patient groups in rare disease is growing – transforming care, policy and, ultimately, lives. A good example is the Alkaptonuria Society, where one father campaigned for 20 years to get an AKU drug approved – and was eventually rewarded. Another is Duchenne UK, where a mother successfully lobbied government to introduce new policy securing care for all children with DMD.

At VMLY&R Health, we believe that assuring health equity for people with rare diseases hinges on our ability to elevate the patient voice. So that’s what we do. Through our Patient Partnership Program, we’ve partnered with some incredible patient organizations in the rare disease space, including AKU Society, Brittle Bone Society, Cystic Fibrosis Trust, Duchenne UK, Siegel Rare Neuroimmune Association, Turner Syndrome Support Society, The Sumaira Foundation, and Beacon for Rare Disease. It’s a privilege to work with them to help inspire change.

Fundamentally, it’s only through multistakeholder collaboration across the ecosystem – patient groups, doctors, researchers, policymakers and industry – that we’ll improve the lives of people with rare diseases. If we can elevate the patient community, we can help physicians look beyond the horses to recognize the zebras too.