Public Q&A: Rare Disease and Rebel Health

The Global Genes RARE Advocacy Summit in September 2023 provided a forum for me to talk, for the first time, about my upcoming book and how rare disease communities have been a key part of my professional life. Here’s a set of questions that Sravanthi Meka of Global Genes asked me in advance of the meeting:

What was your inspiration to write Rebel Health: A Field Guide to the Patient-Led Revolution in Medical Care? 

I could not resist sharing what I have learned after spending two decades on the front lines of the online health care revolution. A rebel alliance of patients, survivors, and caregivers have generously shared their stories with me and now it’s my turn to pay it forward, helping everyone see how powerful they are.

How has writing the book changed how you perceive patient-led research, particularly in the rare disease arena?

I built my analysis on the survey research and fieldwork I’ve personally conducted in communities of people living with rare diseases and other health conditions. I then dug into the academic literature to find both historic and contemporary examples of how networked patients and caregivers have been able to change the trajectory of science. The roots of this revolution are deep and writing Rebel Health helped me to appreciate that in new ways.

How has the rare disease community laid the groundwork for this movement?

My mentor, Tom Ferguson, MD, told me that the best way to see the future is to find people who, when confronted with a challenge, stop at nothing to solve it. People who bend tools until they break and then make a new one of the broken pieces. People who rush out to the frontier and build communities, sharing what they know with anyone who needs help. He was describing people living with rare diseases, who have been early adopters of every new technology trend in health and health care. The courage and generosity of the rare disease community is the animating force of the patient-led revolution. They break the path so others can follow.

How did your time as Chief Technology Officer for Health & Human Services during the Obama administration impact how the rare disease community contributed to acceleration of progress in healthcare now and in the future?

The Office of the CTO at HHS created opportunities for entrepreneurship and innovation across the Department’s 27 divisions and 80,000+ employees, helping the federal agency harness the power of data and technology to improve the health and welfare of the nation. A couple of examples: Historically, HHS collected and created huge volumes of data that were inaccessible. Our Health Data Initiative made available troves of government data, from hospital utilization to prescription drug use, changing the default setting of data warehouses from closed to open. Prize competitions allowed citizens to contribute to solving high-priority health challenges, showing that anyone with a great idea can play a role in addressing these issues. This can-do spirit of openness continues to reverberate, echoing the rare disease community’s calls for openness and experimentation. We all go faster when we work together.

What do we have to look forward to as far as rare diseases and technology in the future? 

Smart organizations are going beyond patient engagement and instead partnering with patients and caregivers to create new products, services, research protocols, and treatments. Leaders are starting to recognize that it is a competitive advantage to work closely with the people who are experiencing the problems they are trying to solve.  

A good example of how this can play out is the team of patient-led revolutionaries spawned by the COVID-19 pandemic. Patients themselves identified, measured, and named Long Covid. They used consumer-strength tools to conduct industrial-strength research. Scientists and government leaders quickly saw that it is an advantage to work with the Patient-Led Research Collaborative and began amplifying their work. There’s a long way to go in our understanding of post-viral illness, but these patient-led rebels have broken a new path forward. One of their papers, published in Nature, has been accessed over a million times and is in the top 5% of all research papers ever tracked by Altmetric. This is the kind of recognition that most scientists can only dream about! And it was written by patients about their own disease.

Here’s my keynote from the Global Genes event where I introduced the four Rebel Health archetypes: Seekers, Networkers, Solvers, and Champions:

Rebel Health is now available for pre-order and I’m booking events for the spring:

• February 15, online: I will be a virtual guest of the Hudson Library & Historical Society, discussing my book, Rebel Health.
• February 18 in Washington, DC: Politics & Prose bookstore will host Helen Burstin and me for a discussion.
• February 20 in New York, NY: Cure will host me for a “Tuesday Talk” about Rebel Health.
• February 29 in Bethesda, MD: I will attend the NIH Rare Disease Day program.
• March 7 in Princeton, NJ: I will speak at a luncheon hosted by the Princeton Mercer Regional Chamber.
• March 13 in Seattle, WA: I will appear at Town Hall Seattle, reading from and talking about my book.

Please let me know if you have ideas for other events and venues! I’m excited to shine a bright spotlight on the patient-, survivor-, and caregiver-led revolution.