From Panic to Purpose: How One Mom Became a Rare Disease Advocate with Karen Morici

What happens when your child receives a diagnosis so rare that even the doctors caring for them have little experience with it? In this episode of The KCNA2 & Rare Epilepsy Podcast, Dr. Nancy Musarra sits down with Karen Morici, a rare disease mom and advocate whose son, Dominic, lives with PMM2-CDG, a congenital disorder of glycosylation. Karen shares the emotional journey from noticing that something was different with Dominic as an infant, to receiving a devastating rare disease diagnosis, Googling it alone in a hospital room, and experiencing her first panic attack. She also talks openly about learning to live one day at a time, managing complex medical needs including tube feeding and hypoglycemia, building a trusted care team, and finding strength through the CDG community. Over time, Karen transformed her experience as a parent into advocacy, joining CDG Care and helping other families navigate the same uncertainty she once faced. This conversation is about more than one diagnosis. It’s about fear, resilience, community, caregiving, advocacy, and learning how to focus on what matters today when the future feels impossible to predict. Learn more about PMM2 CDG awareness and the CDG care community at https://cdgcare.org/ Learn more about KCNA2 Epilepsy on our website https://www.kcna2epilepsy.org/