Cindy Shepler, A Tireless Advocate

Rare Genomics Institute had the distinct privilege of working with Cindy Siegel Shepler since 2013, when our organization connected with her in the context of her advocacy for patients with Hailey-Hailey Disease (HHD). We soon discovered that Cindy was an advocate for several other health-focused organizations, and more specifically for individuals who suffered from illnesses. Although Cindy herself suffered from several debilitating illnesses, she worked tirelessly to support others who were in pain. 

In 2013, Cindy approached Rare Genomics with a proposal to test a generically available drug in patients with HHD. Although the project evolved over time, with Cindy's support Rare Genomics eventually published a review article: "Could Low-Dose Naltrexone be an Effective Treatment for Hailey-Hailey Disease?". The mini review summarized the evidence for the effectiveness of LDN for HHD patients, and led to increased awareness in the research and rare disease community. This initiative with Cindy was the inspiration for the creation of the Rare Genomic's Task Force, which aims to provide scientific information and support for patients with rare diseases where an N of 1 matters. 

Cindy was a gifted communicator, tireless advocate, brilliant connector, and an inspiration to our organization. We are grateful for our collaboration with her and join those who knew her in celebrating a life well-lived.