There are special communities within healthcare where the usual silos and barriers seem to vanish and all stakeholders are working together to save lives. That community is the rare disease community.
I’m not a stranger myself to rare disease. It’s touched several of my family members and notably my aunt, Dr. Vivian E. Shih, had a long and renowned career within the field of rare diseases, focusing on inborn errors of metabolism. I remember finding it odd that in medical school we never studied the diseases that she worked on. It would be more recently that I had a chance to talk with one of her patients, whom she followed well into adulthood, that I understood the impact of her work and clinical practice.
Attending the 40th Anniversary Celebration of the National Organization of Rare Diseases was my first foray into this community. It was also the 40th Anniversary of the Orphan Disease Drug Act, an effort led by leaders within NORD. The Orphan Disease Drug Act would be a game changer for encouraging the development and availability of drugs and treatments for rare diseases. Prior to the law, there were few incentives for companies to invest in research and development for such a small subset of patients.
The strength and courage of rare disease patients and their families is remarkable, yet perhaps even more amazing is the fact that parents of children with rare diseases have become advocates for research and therapeutic advances in care. Theirs is a race against time. One such story is documented in the film Rare, which AMWA screened earlier this year on Rare Disease Awareness Day and more recently in the newly released book We the Scientists: How a Daring Team of Parents and Doctors forged a New Path for Medicine by Pulitzer Prize winning author Amy Dockser Marcus. At the Global Genes Advocacy Summit held last week, I had the good fortune of meeting Chris Hempel who is prominently featured in the book. I also met Dr. Nika Akid, an internal medicine physician turned advocate, founder of the 16p11.2 Genetic Foundation, and author of two children’s books on genetic conditions. And during a film screening at the conference, I was thrilled to see former AMWA Assistant Director Kayla Li on the big screen, sharing information about Congenital Adrenal Hyperplasia, a rare condition.
By tapping into our work in the medical humanities, AMWA hopes to increase awareness of rare diseases through the power of film and storytelling. We hope that others will want to join us on this journey, whether they are impacted by a rare disease or know someone who is. Embracing the passion and dedication of this community can serve as a powerful reminder of why we became doctors. I know that it did for me. bit.ly/amwarare.
Kayla Li
Dr. Eliza Chin with Natasha Bonhomme (ExpectingHealth) and Marsie Ross (Harmony Biosciences)
Dr. Eliza Chin (R) with Eve Dryer (Travere Therapeutics)
Dr. Eliza Chin (L) with Chris Hempel
Dr. Eliza Chin (R) with Dr. Nika Akid
