Saving black swans: what do you do when you're the first and only?
The widespread availability of sequencing is creating an explosion of “one of a kind” disorders. Patients are being told in record numbers: “You are the first and only we’ve ever seen.” Not long ago, the diagnosis and discovery of these “black swan” disorders would have been devastating. But, social media and precision medicine are making it possible to fight and win against even the rarest diseases. Dr. Might paints a vision of precision science and medicine at the fringes of human knowledge through the story of his son — the first patient ever diagnosed with the novel disorder N-glycanase (NGLY1) deficiency. Might’s targeted use of social media for case-finding made it possible to find undiagnosed and misdiagnosed NGLY1 patients as far away as India in mere months rather than years. Two and a half years later, a tight-knit community of 26 NGLY1 cases has established a global, patient-driven research coalition that is rapidly bringing the disease to heel through breakthroughs in the cell biology of the disorder. Early therapies have already been identified and trials for targeted treatments are within striking distance. Ultimately, the NGLY1 community seeks to discover more than a cure for N-glycanase deficiency; it is also discovering a sustainable, scalable model for understanding, treating and curing the rarest of diseases.
Through the lens of NGLY1 deficiency, the talk will illustrate a rare disease roadmap: it will briefly discuss going from undiagnosed to “one of a kind,” and then focus on answering two questions: how do you create a patient community from scratch, and how can small patient communities drive the science? While the examples of steps on the roadmap are drawn from the NGLY1 community, the action items are general, so that other patients and communities figuring out how to take the “next step” on the road to understanding and treatment may do so as well.