Supporting Epilepsy Research
At Austin's Purpose we’re raising funds and promoting initiatives to serve the people who need them most. We believe in taking action with urgency in order to raise public awareness about some of the most pressing issues facing today’s society. Please join us by supporting our efforts to make a measurable difference in the lives of others.
On May 6, 2003 we were blessed with our son, Austin. At first, Austin appeared to be a healthy, strong boy. It was about three months into his life that we started seeing jerking motions and noticed Austin wasn't meeting developmental goals. At the age of three months, Austin had his first seizure. It was Thanksgiving Day 2003, Austin's first myoclonic seizure.
At age 8, Austin was diagnosed with a rare NMDA receptor Grin2A. This receptor is effecting Austin's ability to be mobile. 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. Thus this research collaboration between investigators from different disciplines has the potential to touch and change many young lives.
Austin is 16 years old now and there is still hope. Our Charity is supporting ongoing research with finding a cure. Please help make a difference. We have fundraisers several times a year to assist with a collaboration of well known MD's and Ph.D's to further their research and help the future of early onset seizure activity in young children.
All the funds will go to the Emory University and Cold Spring Harbor Laboratory for exclusive research on the NMDA receptor and the critical role it plays in intractable infantile-onset epilepsy and developmental delay observed in Austin.
Stephen F. Traynelis, Ph.D, Emory University
Hiro Furukawa, Ph.D, Cold Spring Harbor Lab
SUPPORTING EPILEPSY RESEARCH
Making A Difference
Would you like to support our efforts?