Global Genes Patient Advocacy Summit 2022: Undiagnosed? Misdiagnosed? Issues Related to Obtaining a Genetic Diagnosis
Undiagnosed? Misdiagnosed? Issues Related to Obtaining a Genetic Diagnosis was a session at the 2022 RARE Patient Advocacy Summit, which took place September 12-14 in San Diego, California. The Patient Advocacy Summit brought together rare disease patients, caregivers, advocates, healthcare professionals, researchers, partners, and allies to connect, learn, and have fun. Session Information: Undiagnosed? Misdiagnosed? Issues Related to Obtaining a Genetic Diagnosis How and when do you seek a genetic test, what to do if the result is inconclusive, when to retest, and can a genetic counselor advocate for you? Secondary findings. Moderator: Maria Della Rocca, Senior Director, Patient Services, Global Genes Panelists: • Shruti Mitkus, PhD, Director, Genetic Education and Navigation, Global Genes • Billy Short, Mom to Emily who is undiagnosed, blogger. • Gina Szajnuk, Co-Founder and Executive Director, Rare and Undiagnosed Network
Learn More About Global Genes
Contact information: Gina Szajnuk (Zanik)
Co-founder and Executive Director
Rare and Undiagnosed Network (RUN)
E: ginaszajnuk@gmail.com
C: (310) 883-4353
To Read: A mother’s unrelenting crusade to help those trapped in the wilderness of the undiagnosed – by Lee Benson To Read: “What is the hardest part of being undiagnosed?” by Gina Szajnuk
To Read: “Undiagnosed is a Diagnosis” by Ava and Gina Szajnuk
To Read: The Szajnuk Journey To Read: “Push Through” by Ava Szajnuk RARE Cast by Global Genes: “A Young Rare Disease Advocate Discusses Life with an Undiagnosed Condition”
