When my son, Sebastian, was young, he experienced seizures and was initially diagnosed with epilepsy. But we pushed for more answers to explain his other symptoms as they developed, such as vision loss, cognitive delays and trouble walking and talking. Eventually, thorough genetic testing in 2011 led doctors to diagnose Sebastian with CLN8, a subtype of a group of diseases called Batten disease. CLN8 is a late infantile variant of Batten disease, which means that symptoms usually start later in childhood, typically between the ages of five and 10 years old, compared with other variants that may begin in infancy. Batten disease is a rare, genetic, neurodegenerative brain disease that leads to progressive vision deterioration, motor function delays and regression, and cognitive difficulties. At the time Sebastian was diagnosed, there was no cure and no approved treatments for any subtype of Batten disease.
As you can imagine, the diagnosis was devastating to our family, and we began searching all over the world for any answers or hope we could find. We created Project Sebastian, where we raised money to help fund any research that might help – natural history studies, clinical trials – anything to try to help our son. Unfortunately, our son’s genetic mutation is an ultra-rare form of a rare disease, and he kept getting older than many typical Batten disease patients, and the combination meant he was ineligible for many of the studies and trials we tried to enroll him in over the years. We would get our hopes up each time, only to be told no, yet again. It was an incredibly frustrating process and we still hadn’t found any answers for Sebastian.