This past June, I had the pleasure of representing Rare Disease Advisor (sister site to ATTR-CM Companion) as a panelist at the World Orphan Drug Congress USA, held in Boston, Massachusetts. Our session was titled “Beyond Awareness: Translating Lived Experience into Regulatory Evidence.” I was thrilled to share the stage with my fellow rare disease patients and dedicated advocates.
The core of our discussion focused on how the rare disease community can move past basic awareness and instead turn personal stories into structured, scientific data that regulators and Health Technology Assessment (HTA) bodies can actually use.
For my part, I highlighted how amplifying patient narratives can help reach key stakeholders in the rare disease space — including clinicians, pharma industry leaders and regulators. By leveraging these stories to educate, motivate and advocate, we can drive real change. I used my own personal story to demonstrate ways that patient-led media can serve as a powerful catalyst.
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The power of education
Regarding education, I drew on my experience with the Amyloidosis Speakers Bureau, a branch of Mackenzie’s Mission. The speakers bureau was started in 2019 and has delivered over 500 live and virtual presentations nationwide to more than 30,000 medical students, residents and providers.
Consistent positive feedback from these presentations illustrates the unique power of the patient story. This is well illustrated by one piece of feedback that we received after a presentation at George Washington University School of Medicine:
“In medicine we always talk about how we learn in two ways — first, through the textbooks and lectures, and then second, through our patients in the hospital. It’s this second kind of learning that creates the lasting impact, and where many doctors first start to feel they are confident understanding these diseases. This presentation allows learners and medical students to begin to develop this deeper kind of understanding for amyloidosis through hearing a patient’s story, and this awareness is key in catching amyloidosis patients earlier, and improving or even saving their lives.”
In my view, the media has the same opportunity to engage and educate this audience on a global scale using print, audio and video.
Motivating the next breakthrough
In terms of motivation, I shared my experience delivering motivational speeches on two separate occasions to the company that developed the life-saving treatment for my own condition, hereditary transthyretin amyloidosis. Speaking to their team allowed me to put a human face to their hard work: My story is a real-world example of how their scientific breakthroughs achieve incredible results. My hope was to fuel their drive to continue refining treatments for amyloidosis and pursuing therapies for other rare genetic diseases.
Read Sean’s amyloidosis journey: “Searching for answers: The start of my amyloidosis story”
The media can act as this same powerful catalyst, using human-interest storytelling to motivate the pharmaceutical industry to invest in orphan drug development for a wide range of rare conditions. I’d like to see stories that capture both the tremendous need for and the successful strides being made by orphan medicinal therapies.
Advocating for approvals
Lastly, on the subject of advocacy, I shared my experience testifying before an FDA advisory committee. I presented both my long term clinical data and my personal sense of well-being to show how a tetramer silencer therapy has helped treat my cardiomyopathy. This is a clear example of how real-world patient stories can serve as holistic, qualitative data to advocate for the timely approval of critically needed orphan drugs.
The media has a tremendous opportunity to step into this space, broadcasting these authentic patient narratives to act as a powerful voice for advocacy directly to regulatory bodies.
What a story can do
The path forward for the rare disease ecosystem relies heavily on collaboration, and the media has a unique opportunity to help. My journeys to medical schools, speeches and the FDA advisory panel illustrate how real-life human data can change minds and push science forward.
By sharing patients’ stories, media outlets can serve as a strong conduit, helping to educate practitioners, drive industry motivation, and shape regulatory decisions to build a more responsive healthcare network for the rare disease community. I’m excited about how sharing my own story has helped make a difference in the amyloidosis community, but I have more work to do. I’m excited to continue delivering my story as a tool to promote advancement in the treatment of the many hereditary conditions that are seeking solutions.
