View of an Affected Mother: Insights into a Life with the Diagnose NCL

As an affected mother I want to give you an insight into the life with the diagnose NCL also called Batten disease. NCL is the acronym for neuronal ceroid lipofuscinosis, a metabolic disorder that leads to the progressive death of nerve cells. NCL is the most common form of childhood dementia. The destruction of neurons leads to blindness, loss of mental ability, loss of motor function, epilepsy, and premature death. My son suffers from the late-infantile NCL (NCL2). On February 15, 2016, we received the final diagnosis, 2 years after he had the first symptoms. On average, it takes 2 to 4 years until NCL is correctly diagnosed. Meanwhile, my son has completely lost his ability to walk and speak. During my presentation, I will focus on the daily problems we encounter, the communication between the physicians and the communication between physicians and patients. In addition, Dr. Frank Stehr will report on current therapeutic approaches, NCL research and the work of the NCL Foundation. The foundation focuses on supporting research projects, to promote the development of a therapy. Furthermore, the foundation offers several trainings for physicians, medical students and pupils.