Rare-disease patients can be empowered activists

By Candy Lurken, principal, and Linda DaSilva, senior manager, sales executive, Deloitte Consulting, LLP

The first Rare Disease Day took place in 2008 on February 29—the rarest day of the year—to raise awareness among policy makers and the public, and to highlight the need for treatments. Since then, the globally coordinated movement has been held each year on the last day of February.¹ About 30 million people in the United States have a rare disease.² For them, every day is rare disease day.

We met Nadia Bodkin, Pharm.D., M.S., in Boston last summer at the annual World Orphan Drug Congress (ODC) and we have kept in touch since then. Nadia is the founder of the Rare Advocacy Movement (RAM), the first community-based collaborative network of rare disease activists and lived-experience experts. We recently caught up with Nadia to talk about RAM, rare diseases, and why she believes people who have rare diseases should be seen as empowered activists rather than merely patients. Here is an excerpt from that conversation:

Candy: It seems that patient advocacy has been part of your life for a long time. In college you founded a group called EDSers United. What is it, and how did it come about?

Nadia: I enrolled in a doctoral program for my Pharm.D. because I wanted to figure out what was wrong with me. I was born with three rare genetic conditions. My pathophysiology teacher helped me identify one of the conditions as EDS. [Ehlers-Danlos syndromes (EDS) are a group of 13 connective-tissue disorders.³] Once I was diagnosed, I was told my condition was so rare that I would never meet anyone else like me. I thought there had to be at least one other person out there. I decided to post some video blogs of my experience online to see if I could find at least one other person that may have a similar diagnostic odyssey. That opened a floodgate. Turns out, there are a lot of people just like me…either diagnosed or suspected of having EDS. And like me, many of them had been told that they were the only person with this condition. Once I discovered this community, I decided I did not want the notoriety that came with video blogging. Instead, I wanted to provide an accessible resource for this rare-disease community. That's when I founded EDSers United. I was able to use my proximity to research and academia to organize data and resources and develop a charitable entity to help evolve the EDS advocacy-based community.

Candy: How did it make you feel just knowing there were others out there who had similar conditions?

Nadia: I finally didn't feel alone. But I also felt like there were misunderstandings and assumptions in the health care community that needed to be corrected. I was told [by my doctors] that I would not make it to Christmas 2012. Health care professionals need to understand the psychological effect those kinds of definitive predictions can have on a patient. It can cause medical post-traumatic stress disorder (medical-PTSD).

Candy: Some people may choose not to participate in advocacy groups because they don't want to be defined by their disease. How is RAM different from a typical patient-advocacy group?

Nadia: RAM is a decentralized autonomous organization [DAO], which is different from a typical 501(c)3 tax-exempt model. Our structure is democratic and horizonal rather than vertical. Instead of competing with patient advocacy groups or duplicating efforts, RAM is strategically designed to be supportive of patient advocacy activities and to fill in gaps that might directly impact the community-based landscape. As a result, RAM has a very high closed channel engagement rate, with over 360 million people worldwide registered.

Unlike the advocacy environment, the people of the community-based landscape tend to value privacy and prefer not to participate in public facing activities. For this reason, prior to RAM, approximately 95% of the rare disease community remained unengaged and were hard-to-reach from industry and advocacy perspectives. Now, through RAM’s network, the people of the rare disease community can engage and gain access to each other without needing to connect their public social media profiles to their disease.

Candy: Why can that type of an infrastructure be important?

Nadia: RAM encompasses the rare disease community-based landscape, which is notably different from the advocacy-based landscape. Through RAM’s model, the patients, caregivers, and care partners are lived-experience activists, advocating for themselves. I spent more than 12 years working at and with various patient advocacy organizations. One thing that makes the advocacy-based landscape unique is that the majority of its constituents have the privilege to volunteer and/or the comfort to disclose their personal stories on a public platform. But people with a lived rare disease experience often prefer not to disclose their personal experiences on a public platform. As a result, the biopharmaceutical industry has historically found it difficult to recruit a diverse group of people for market research and clinical studies. (See Enhancing diversity in clinical trials.)

Candy: What role could patient advocacy groups play in persuading drug companies and the medical community to focus on rare diseases? Does it differ from what RAM does?

Nadia: Patient advocacy 501(c)3 charities and organizations are often a wealth of resources to both the community-based landscape and companies that are developing promising therapeutics. Some raise funds to support pre-clinical to clinical research projects. Others might focus on targeting specific legislative processes that might impact the pharmaceutical-development continuum. Some of the more seasoned organizations manage clinical sites and patient-assistance programs post approval. While the patient advocacy-based landscape can offer vital support to the rare disease ecosystem, several 501(c)3 organizations rely heavily on volunteer work and donations. Because the governing structure of several charitable organizations rely on families and communities blessed with the privilege of being able to volunteer their time and donate support, some organizations can become encapsulated into a siloed perspective that is often difficult to break free from. Over time, successful charitable organizations tend to evolve to rely on professional executives and decision makers who might not have a community-based lived experience to manage the direction and focus of the organization. This natural phenomenon typically results in an understandable disconnection from the diverse day-to-day dynamics that encompass the various lived experiences of the people within the community.

This is where the difference between the two landscapes can really be appreciated. Patient advocacy organizations might not be experienced in connecting with patients and families of differing ethnicities, nationalities, or social backgrounds. RAM is a community-based safe zone that helps to bridge these types of gaps across the rare disease ecosystem. The personal protection that RAM provides to the people of the global rare disease community is what makes it unique. Patients and their loved ones can contribute real-world insights and engage on their terms.

Candy: The Orphan Drug Act defines a rare disease as a disease or condition that affects fewer than 200,000 people.⁴ But the definition can vary by country. The European Union, for example, defines a disease as rare if it affects fewer than 1 in 2,000 people.⁵ Why should we have a global definition?

Nadia: Having a global definition means that organizations can finally align globally, and regulatory incentives can be developed on a universal scale. This is important because so few people have these diseases…and prevalence can vary by region, making it challenging to design statistically relevant clinical trials in the search for treatments and cures. Aligning on a global definition could open the practical doors to establishing international rare disease trials. Regional sites could be combined to establish significantly relevant global efficacy data. The Health Equity Diagnostic Infrastructure (HEDI) is a second-phased RAM development focused on accelerating this global rare disease initiative in collaboration with aligned patient advocacy-based groups.

Candy: Therapies to treat some rare diseases can be expensive and might not be covered by insurance. How could RAM and the patient community help to overcome this issue?

Nadia: Having a chronic rare disease can be an entrance point into poverty, even for the wealthiest of families. Rare diseases often prevent diagnosed individuals and their caregivers from being able to truly thrive in their social and professional lives. Chronic rare disease patients typically have an abundance of health care data. RAM has been conducting market financial and feasibility analytics on the real-world fair market values of this data and how to apply these values in a sustainable, tokenized blockchain ecosystem. This could help the patient community commercialize their own health care data in a secure digital environment. Blockchain technology platforms have the power to enable communities to commercialize data and, when applied to the rare disease ecosystem, empower the true owners of health care data…the patients themselves.

Candy: Could a more effective outreach strategy potentially lead to better engagement with the community?

Nadia: The overall pharmaceutical industry has done a great job of prioritizing the development of patient-focused therapeutics developed in partnership with patient advocacy 501(c)3 groups and charities. But that model is evolving as society becomes more aware of diversity and the need to be inclusive of all forms of human variation and socioeconomic access points. How do they respectfully ask questions about a person’s biological sex at birth, current gender identity, or racial classifications? This area of specialized communication is where RAM’s rare360 program has been instrumental in providing teams with access to appropriate diversity, equity, and inclusion (DEI) solutions and helping teams to understand the community-based perspectives that drive the need for specialized communication.

When approaching how to ask questions or have discussions that are both respectful and informative, it is vital to receive unfiltered input directly from the communities involved. But you cannot just expect people to disclose sensitive and vulnerable aspects of their lives. People must first be offered an environment where they feel respected, protected, and heard prior to engagement.

Conclusion

Rare Disease Day was founded 12 years ago to raise awareness of the more than 7,000 rare diseases that impact the lives and families of more than 300 million people worldwide.⁶ The global rare disease community celebrates this day each year (on the last day of February) with virtual and in-person awareness events throughout the month of March. The promise of treatments and cures drives the rare disease ecosystem to continue to find collaborative ways to evolve together.  Because For the people of the rare disease community, Rare Disease Day is every day.

Acknowledgements: Linda DaSilva, Jadie Rendon

Endnotes:

¹ Rare Disease Day 2023, Rarediseaseday.org

² Genetic and Rare Diseases Information Center, National Institutes of Health

³ Ehlers-Danlos syndrome-symptoms and causes, Mayo Clinic

⁴ Rare Diseases at FDA, FDA, December 13, 2022

⁵ EU research on rare diseases, European Commission

⁶ Rare Disease Day 2023, Rarediseaseday.org 

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