Darwin’s Orphan: A Childhood with Epidermolysis Bullosa
Tell us about your Rudin experience.
I would describe the Rudin fellowship as one of my most formative experiences in medical training thus far. Through the project, I learned how to think critically about “disease” from a variety of perspectives: patient, family, provider, pharmaceutical company, insurance, etc. Piecing together each of these viewpoints into a cohesive narrative was quite a learning process from the medical, journalistic, and human angles alike. The skills fostered during the fellowship—intent listening, self-directed researching, deliberate questioning, and clear communication—are all essential to the practice of medicine in the clinical setting. As well as shaping the practice of medicine, beyond it. I can’t speak highly enough about the fellowship.
What was your topic?
Telling the story of “orphan” (rare)diseases through the lens of a single disease, and conveying the narrative of that disease through the eyes of a single child.
Who was your mentor?
Perri Klass and David Oshinsky.
What was the research experience like?
Honestly, it was an incredible, seat-of-the-pants adventure from the moment I approached John and his mother Faye to tell John’s story. I was forced to develop a clear understanding of the biological, sociological, political, and financial elements of orphan diseases extremely quickly. Then, I had to use that understanding to reach out to key voices in each respective field, and in turn, ask those leaders intelligent questions moving the overall narrative forward. Finally, I needed to articulate those conversations (and the concepts underlying them) on the page in a way that was informative, intriguing, and enjoyable. Not to mention, learning how to get those pages published at the end of the day (the pitch process is its own special journey…)!
How did the Fellowship impact your role as a physician and a writer?
It provided a platform to materially develop/synthesize these identities.
What publications and professional invitations came out of it?
John’s story was featured as a 3-part series in The Mighty. As a result of the article, and during its writing, I was twice invited to the National Organization forRare Diseases (NORD) Annual Summits, as well as the 2017 World Orphan DrugCongress (WODC).
What are you working on currently?
- Redefining methodologies in global cost-effectiveness analyses
- Biases/inefficiencies in healthcare venture capital investing
- The potential of machine learning (ML) to perpetuate health disparities
- The role of(implicit, explicit) racism in healthcare
- Integration of “informal” caregivers into the healthcare system
- Designing haptic sensor technologies for use in pediatric orthopedics
- Exploring previously overlooked risk factors for concussion in high school/NCAA football players
- Combatting burnout and mental illness in medical training