One of a Kind: What Do You Do When You’re the First?

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 "n=1" disorders would have been devastating. But, social media and precision medicine are making it possible to fight and win against even the rarest diseases.

My son was the first patient to be diagnosed with the novel disorder N-glycanase (NGLY1) deficiency. Using targeted 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 understanding the biology of the disorder. Ultimately, the global NGLY1 community seeks to discover more than a cure for N-glycanase deficiency; it also seeks to discover a sustainable, scalable model for understanding, treating, and curing the rarest of diseases.