Batten Disease Patient Stories
Whether you are a caregiver, family member, speech therapist, pediatrician, or other healthcare provider interested in the late infantile subtypes, CLN5 and CLN7, of Batten disease is the common name for a broad class of rare, inherited disorders or diseases of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs. In these diseases, a defect in a specific gene triggers a cascade of problems that interferes with a cell’s ability to recycle certain molecules. The disease has several forms that share some of the same features and symptoms but vary in severity and age when symptoms first begin to appear. Each form is caused by a variant in a different gene. Although “Batten disease” originally referred specifically to the juvenile-onset form of NCL, the term Batten disease is increasingly used to describe all forms of NCL. The disease ultimately leads to shortened lifespan., you can learn more by reading these stories from actual families living with CLN5 and CLN7.
Rishi and Hemaxi’s life changed when they noticed early signs of neurological disease in their daughter Aashi. The family is dedicated to beating Batten disease and spreading awareness.
Sara had an emotional journey raising her daughter, Gabriela, who was diagnosed with CLN7 at age six. In the years since diagnosis, her family worked tirelessly to make Gabriela’s life less painful and more beautiful, and to bring awareness to the community through Rare Diseases Croatia, known locally as Hrvatski savez za rijetke bolesti.