Imagine 60% of your skin having open wounds every day. That's the grim reality of those with Epidermolysis Bullosa, or EB, a rare genetic connective tissue disorder which results in blisters and tears to the skin being created from even minor contact or friction. The range of complications this causes for almost every normal activity – from eating to bathing to sleeping – is daunting, leading our guest today, Brett Kopelan, to call EB “the worst disease you’ve never heard of.”  He should know. Brett and his wife have the equivalent of fulltime jobs just managing daily care for their daughter Rafi, who suffers from a severe form of EB.  Advocating for Rafi led to Brett becoming Executive Director of debra of America, the only national not-for-profit providing all-inclusive support for patients battling the disease.  In this revealing discussion with host Shiv Gaglani, Brett opens up about his frustrations with the health insurance system, the challenges of raising money for rare diseases, and why he feels there is a need for more doctors to specialize in rare disorders for patients over twenty-three.  Brett shares some positive news as well about several promising gene therapies on the horizon. “I can say that the past two years has really been the first time that I've felt I'm working for my child's life, not for beyond her. So that's an exciting thing.”

Mentioned in this episode: https://www.debra.org

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