Hope Shines Bright: Gianna's Journey with SCN8A Epilepsy

At just two months old, Gianna experienced her first seizure. After a typical birth her parents didn’t expect to bring their youngest child to Nationwide Children's Hospital for genetic testing. Their path brought them to clinical geneticist, Dr. Dennis Bartholomew, who discovered that Gianna has SCN8A epilepsy, a rare genetic mutation in a sodium channel that is critical to normal brain function.

SCN8A impacts Gianna’s neurons and causes persistent seizures that are rarely responsive to medication. As such, Gianna has worked closely with many teams at Nationwide Children's Hospital.

“The hospital staff from multiple locations have been there for us and for Gianna every step of way” shares Gianna’s mom, Miranda. “From our Neurology team to Dr. Garey Noritz in Complex Care to our palliative care nurse, Karla.”

Gianna has made incredible strides despite her diagnosis. Research on SCN8A indicates that those diagnosed do not live past two years old, but Gianna has achieved amazing physical and occupational milestones and will be just a few months shy of seven years old this fall. 

Gianna, her parents, and her eldest brother have participated in the Nationwide Children’s Hospital Columbus Marathon & ½ Marathon before.

“While we have made it a point to ‘high-five Patient Champions in past races, we look forward to thousands of runners coming by to do the same with Gianna,” Miranda says. “Our family is excited by the opportunity to support everyone who is making a difference in the lives of all children by participating. We hope that Gianna’s smile will help them reach the finish line.”