Rare disease patients often have to make 17 medical visits before a diagnosis. Under the theme of Early Detection Drives Direction, Global Liver Institute’s annual #RareAware campaign challenges health systems, policymakers, and communities to recognize rare liver diseases sooner, before missed symptoms determine outcomes.
From Patient to Pioneer: Frans Frielink’s Journey with Alpha-1 MZ
When years of fatigue, inflammation, and unanswered symptoms left him without a diagnosis, Frans Frielink, an engineer by training, turned his problem-solving skills inward. What began as a personal health crisis became a data-driven investigation into the Pi*MZ genotype of alpha-1 antitrypsin deficiency. His experience led him to uncover patterns in global data, connect with researchers, and push for a redefinition of what it means to be a “carrier.”
Catarra Simmons’ Journey with PBC and Meeting Another PBC Patient for the First Time
Living in rural Mississippi, where resources for rare liver diseases are limited, Catarra’s journey as an emerging patient advocate for PBC underscores the need for awareness and support.