Batten Disease Patient Stories
Whether you are a caregiver, family member, speech therapist, pediatrician, or other healthcare provider interested in CLN5 Batten diseaseBatten 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 about a family living with CLN5.
The Search for Answers
The years before diagnosis were an endless search for Wendy and her son, Austin. Getting answers provided her family with the clarity they needed to move forward.