Eric was born an apparently healthy little boy on the 22nd July 2013, but just 21 hours later he had his first seizure. He spent the next 6 weeks in the hospital while doctors struggled to get his seizures under control. Having undergone a battery of tests, including EEG’s, an MRI and 2 lumbar punctures, all of which came back negative, the doctors remained baffled. Finally after 13 weeks test carried out in Germany resulted in Eric being diagnosed with KCNN2 Encephalopathy, making Eric the only person in Ireland with this extremely rare form of epilepsy.
KCNQ2 encephalopathy, which has only recently been discovered, is a disease of seizures and significant developmental delays, caused by a rare mutation in the KCNQ2 gene. This gene is involved in the proper functioning of a potassium channel in the brain. Fewer than 220 patients worldwide have been diagnosed to date. Children with KCNQ2 encephalopathy have a broad range of motor and cognitive disabilities and low muscle tome, in addition to seizures, and all are unable to function independently.