What is CLN3 Batten Disease?
CLN3, often called juvenile Batten disease, is an ultra-rare inherited disorder that primarily affects the nervous system and left untreated, is fatal. Children with CLN3 disease develop normally, even excelling in school until ages 5–6 years, when progressive vision loss becomes noticeable. Shortly thereafter, parents report personality changes and behavioral issues. Typically, within 2–3 years after symptom onset, total vision loss occurs, and seizures begin. This is followed by declining speech and the progressive loss of motor coordination. Eventually, children become wheelchair-bound, bed-ridden, and die in their late teens to late twenties. Some children display heart arrhythmias in their late teens requiring pacemakers. Psychosis, hallucinations and/or dementia can appear anytime during the disease. (Source: beyondbatten.org)
Parents who are both carriers of this rare gene mutation have a 25% chance of having a child that inherits both abnormal genes and becomes effected with Batten Disease.