A local family is trying to raise awareness about a rare form of epilepsy that their son was recently diagnosed with.
The Stoney Point family recently discovered that their son, 7-year-old Tristan Burk, is among 150 children worldwide with SCN8A Epilepsy which is caused by a genetic mutation.
"What we're hoping to do is raise awareness of this mutation, [that] raises awareness of epilepsy research and that's the reason for this day," says father Chris Savard.
February 9 is the first annual International SCN8A Awareness Day. The disease was only discovered in 2012. Families worldwide chose the day in honour of the daughter of the geneticist who discovered the disease. Shay Hammer was 15 years old when she passed away suddenly in 2011, she would have been 21 today.
Savard says having a diagnosis gives them a reason for the seizures and helps them cope. In addition to epilepsy, Burk has autism and is non-verbal.
"Despite all of the challenges, he's a heck of a warrior, and works really hard to get through school and he's doing quite well. He's great," says Savard.
Funds are being raised through Ajude o Rafa, The Cute Syndrome Foundation, and Wishes for Elliott: Advancing SCN8A Research to help geneticist Michael Hammer with researching the genetic mutation.
