Not Alone: Stories from CZI's Rare As One Project

This week, both of our storytellers are navigating rare disease diagnoses and the feelings of fear, uncertainty, and loneliness that can often come along with them. This episode was produced in partnership with the Chan Zuckerberg Initiative’s Rare As One Project, which brings together rare disease patient advocates from all over the world, uniting them in their quest for cures and working to lift up their efforts by offering new tools, grants programs, and capacity-building support and training. (For more stories like these, you can also check out the previous episode The Story Collider produced with Rare As One in 2019, as well as our Rare Disease playlist.)

Part 1: After her child is finally diagnosed with Hermansky-Pudlak Syndome, Donna Appell set off on a mission to make sure other parents have the information she didn’t.

Part 2: Feeling unmoored after she’s diagnosed with LFS, Jenn Perry attends a patient conference that changes her life.

Donna Appell is the mother of two children and her oldest child has Hermansky-Pudlak Syndrome (HPS). Feeling desperate in her attempts to find help, she founded The HPS Network in 1992. Ms. Appell was appointed to the American Thoracic Society’s (ATS) Public Advisory Roundtable and has received The ATS Public Service Award and the “Presidential Commendation”. For her work in Puerto Rico, she received the inaugural recognition from the ATS, “Innovations in Health Equality Award”. She was employed for 22 years as a RN in a Critical Care Open Heart ICU. In 2013, Appell and her daughter were chosen as one of 30 Heroes to celebrate the 30th Anniversary of the Orphan Drug Act by the Office of Orphan Product Development at the FDA and the National Organization for Rare Disorders (NORD). In 2019, Appell was honored to be awarded a Rare Impact Award from NORD.

Jenn Perry is the President of the Li-Fraumeni Syndrome Association. She is a wife and mom of 2 girls ages 28 and 18. As a LFS patient myself Jenn is relentless in the supporting the LFS community in multiple ways. Jenn loves her horse, and competition partner, Maximus. In addition to riding, she has worked as a business consultant in the QSR industry, and she currently co-owns a Gymnastic & sports facility. Gymnastic was her first love, and she enjoy judging competitive gym at all levels. It is her honor to have the opportunity to speak in front of everyone today, as bringing awareness to this syndrome is so needed, in order to find the cure.

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