Every CLCN4 diagnosis begins a journey, one filled with questions, uncertainty, and, above all, love. Families living with CLCN4 often face a long road to understanding what this rare genetic difference means for their children and their futures.

Here, families from around the world share their stories, moments of challenge, discovery, and the deep joy that comes from connection and community. Their voices bring comfort to others newly navigating CLCN4, raise awareness, and strengthen the collective effort driving research forward.