On May 6, 2003, we were blessed with our son, Austin. At first, Austin appeared to be a healthy, strong boy. But we started seeing jerking motions and noticed Austin wasn't meeting developmental goals. At the age of three months, on Thanksgiving Day 2003 , Austin had his first myoclonic seizure. Throughout his first 8 years of life he would have up to 12 seizures a day.
During those eight years, Austin was seen by the best of the best doctors in NYC. He was a mystery. It was 2008 when Austin was accepted into the Undiagnosed Disease Program at the National Institute of Health in Maryland. In 2011 Program head Dr William Gahl and his remarkable team of doctors found a new mutation in a gene called GRIN2A. This encodes a receptor in his brain called the "NMDA" receptor which mediates communication between neurons in the brain.The mutation caused this receptor to become overactive likely contributing to the constant movement and seizure activity.
The GRIN2A mutation had devastating consequences for Austin and through his participation in the NIH research a connection has been made between GRIN2A and childhood seizures, and it may be possible to help many other children through further research. This research collaboration between investigators from different disciplines has the potential to touch and change many young lives.
Austin is 14 now and there is still hope. Austin’s Purpose was formed to help fund research for this devastating disorder. Austin’s Purpose is joining forces with CureGRIN to support ongoing research to find a cure for GRIN Disorder.