The Rare Disease Rallying Cry: If Not Me, Who?

This post was co-authored with Emily Plackowski.

"When you hear hoofbeats, think of..."

Completing this saying has become a kind of shibboleth or custom for the rare disease, disorder, and disability (RD) community. Traditionally, healthcare professionals have been advised to "think of horses" when presented with symptomatic patients. On a surface level, this "anticipate the obvious" reasoning makes sense; cases of the flu, COVID-19, and respiratory syncytial virus (RSV) are surging this holiday season, while individual RDs remain, well, rare. Still, the relative rareness of a disorder does not justify a lack of awareness about that disorder, especially among healthcare professionals. Our new research published last month demonstrates the great work people with RDs are doing in order to change that.

Source: European Organisation for Rare Diseases, used with permission

Individual RDs are (by definition) rare, affecting fewer than 200,000 Americans, although thousands of different RDs collectively affect about 300 million people worldwide. Healthcare providers remain demonstrably unaware of RDs (see Domaradzki and Walkowiak, 2019, 2021; Field & Boat, 2010), making accurate diagnoses of RDs notoriously difficult to obtain. Despite their collective pervasiveness, RDs are unrecognized and misunderstood, and people with diverse rare diseases are brushed into the margins of society. Too busy thinking of horses, healthcare providers may forget to consider that hoofbeats can come from another, less obvious ungulate.

"When you hear hoofbeats, think of zebras."

Awareness is key.

Who better to help us develop a deep understanding of RD experiences than people with RDs? In a two-study project newly published in Qualitative Health Research, we talked with 27 adults with diverse RDs about living with RDs, including the problems they experienced and their ideas for how we—and they—might go about addressing those challenges. They identified a lack of RD awareness as an issue that begets many other RD-related concerns (e.g., stigma and difficulties surrounding diagnosis and treatment).

For example, people who lack RD awareness (the general public, loved ones, and healthcare providers) may stigmatize and discriminate against those with RDs. Encounters with such people can be exhausting, frustrating, and harmful, as one participant described.

"… people sometimes take me as being intellectually disabled, even though I have a master’s degree.... the social aspects of the conditions are probably the worst. People’s first impressions are sometimes incorrect. And sometimes I can get past that, and sometimes I can’t."

Frequently, healthcare providers’ treatment of patients was not only ill-informed but also callous and alarming. Participants described encountering such statements as, “Get [your] affairs in order,” “You’re gonna die from this, so just get used to it,” and “I’m not touching you.”

"When I first started experiencing symptoms… I went to Doctor 1… and he misdiagnosed me and then gave me… the wrong treatment. Then I went to my own general practitioner, and he also misdiagnosed me and gave me the wrong treatment."

"…This has been going on for almost 20 years. And I’m really tired of them telling me each visit, ‘There’s no cure for your condition… There’s nothing we can do except monitor the progress of the disease. We’re sorry….’"

Insights from self-advocates

People with RDs feel that increasing awareness is the key to reducing stigma and improving experiences with healthcare professionals. Often, participants reacted by becoming self-advocates: empowered members of a marginalized group who stand up for themselves and others to advocate for change and equity. As one participant reflected when discussing why he chose advocacy work, “If not me, who?”

Self-advocates had a variety of recommendations for how to increase RD awareness. Suggestions included increasing RD representation and inclusion (in the media, in healthcare, and in positions of power), educating others in their communities and beyond, working for better social systems and research, and bringing outsiders “into our world.”

"They want to hear how it affects them and impacts them, those without rare conditions. Bring them into our world, and speak in such a way that it influences them personally to want to advocate for people with rare diseases. And, collectively, that would make a huge impact on how rare diseases are viewed in our societies across the globe."

Many participants championed using narrative- or story-based methods to reach outsiders and increase their understanding of RDs. As one advocate observed, “If you even reach one person, then you change one person, and give them perspective.”

"…for rare disorders to become known… people have to start being vocal about their experiences. People have to start being open and honest, and they have to be willing to put their voices behind this, and willing to put themselves out there. Because it’s not the doctors that are going to do this for us."

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Other participants had suggestions for how researchers can be more helpful and inclusive

"… a big thing that scientists or researchers can do is take their knowledge and spread it. Just sharing it in general and trying to find an audience would be very beneficial to what you’re working on, would impact those people that you’re trying to help."

As researchers, and as people with RDs and disabilities, we are determined to follow participants’ directives to be researcher (self-)advocates who amplify RD voices in the wider world. By reading this post right now, you are assisting us in furthering this goal. (Thank you.)

Unfortunately, efforts to increase RD awareness in the real world are often impeded by societal, structural, and interpersonal barriers. To educate others and engage in self-advocacy, one must take on the burden of “putting oneself out there.” Outsiders may invalidate people who try to speak up. Sharing personal information can be uncomfortable and can open one up to stigma, judgment, and discrimination. Patients who are disagreeable or “ask for too much” from healthcare professionals may be “terminate[d]… as patients.” Buildings and travel can be inaccessible to many with disabilities, preventing disabled people from “protest[ing] en masse to even have awareness.”

A legacy of advocacy

Effective social, systemic, and interpersonal change will take time, but people with certain types of RDs may not have time. Potential self-advocates may lack the money, energy, and bandwidth to do more than survive. The ongoing battle for awareness, equity, research, and accessibility is daunting, but advocates are fighters. As one noted, “[my RD] is unlucky to have me as a patient.”

"After somebody passes away, if they’ve been an advocate, they still go forward. And somebody who has not advocated for it, and has just lived with it, does not. It is part of a legacy. Some of the things of what I’ve been doing are not all for naught. Yeah. It’s something that will go beyond me. And advocacy does that."

How can you help? Spread the word, tell your story, amplify and facilitate others’ stories, stand up, and speak up. In short: we encourage you to become an advocate.

Emily Plackowski, M.S., is a Ph.D. candidate in the School of Psychological Science at Oregon State University and a student in Bogart's Disability and Social Interaction Lab.