On September 20, 2025, patients, families, physicians, and experts gathered together for the First Carolinas Batten Diseases Family Day. What began as a collaborative effort among local families and the neurology teams at Duke and UNC evolved into a meaningful forum for shared knowledge, mutual support, and community building for those affected by one of the most rare and complex pediatric neurological disorders.
The Carolinas Batten Disease Group, first formed in Chicago January 2025, came into this day with a clear purpose: to bring families together and reduce isolation. Planning was a fully collaborative effort, supported by parents, clinicians, volunteers, educators, therapists, and partners such as BDSRA, BioMarin, and local families.
The morning began with a conversation about caregiver support and the emotional realities of Batten disease, led by Ayat Soufan, LCSW, CCM, and Karen Kahn, a mother who has transformed her own family’s experience into advocacy through the ForeBatten Foundation.
From there, the focus shifted to knowledge – Dr. Shital Patel of Duke Pediatric Neurology translated the current landscape of therapeutics for attendees and Dr. Yael Shiloh‑Malawsky highlighted ongoing clinical progress, including the development of n-of-1 ASO therapies.
The updates continued with an overview of the CLN2 gene therapy program from Dr. Christina Ohnsman of Tern Therapeutics. The panel discussion that followed—with Dr. Marlee Silverstein joining the speakers—became one of the most meaningful moments of the day. Parents asked thoughtful, heartfelt questions, and the clinicians responded with clarity, compassion, and unwavering commitment.
As the Carolinas Batten Disease community continues to grow, this first Family Day stands as a milestone. It demonstrated what is possible when families, clinicians, and advocacy organizations come together with a shared mission.