A Diagnostic journey - Uncovering A Family’s Disease

Send us Fan MailListen to Mackenzie in this episode of a nine part series where she talks with Erin Poyant, founder of #hattrnextgen and Senior Manager of Education and Awareness for the Amyloidosis Research Consortium, about the tumultuous road that led to the discovery of a rare and mysterious unknown genetic mutation in her family. Doctors were puzzled over an array of symptoms and a genetic test revealed the truth. Learn how Erin navigates grief and uncertainty, but rallies with a mission to increase knowledge, encourage earlier genetic testing, diagnosis, and treatment with the hope of a brighter future for those who carry the mutation or have been diagnosed with active hereditary amyloidosis, V122i mutation.  “Your father may have given you a disease, but he also gave you a roadmap.” Dr. John Berk, Amyloidosis Center at Boston Medical Center. For an overview of amyloidosis, please see episode 2 (for clinicians) or episode 3 (for patients).