Owen Thrives with Fewer Seizures After First-Ever Genetic Treatment for Dravet

When Owen was diagnosed with Dravet syndrome at 13 months old, his parents immediately looked for treatments. At the time, none of them addressed the root cause of the challenging condition — genetics. 

Dravet syndrome is a rare and severe form of epilepsy that begins in infancy. It causes prolonged seizures, often triggered by fever, which can lead to developmental delays as well as cognitive and motor disabilities. For more than 85% of patients, the cause is a non-inherited gene mutation — but currently, there are no FDA-approved genetic treatments. 

“Where we live, we don't have any pediatric epileptologists in the state,” his mother Austin said. “When we got Owen’s diagnosis, we began a hunt for the best doctors to help us on our journey.” 

In 2016, the Idaho family made an appointment with the Dravet Clinic at Ann & Robert H. Lurie Children’s Hospital of Chicago. Led by Dr. Linda Laux, the clinic provides comprehensive, team-based care, driven by extensive experience and leadership in groundbreaking research. The clinic is supported by collaborative specialists including epileptologists, nurses, genetic counselors, dietitians and therapists. 

“We talked about the possibility, even then, of genetic studies,” Austin said.  

The Monarch Trial 

In 2020, that possibility became reality. Dr. Laux contacted Owen’s family about the Monarch Trial — the first-ever gene-specific treatment available for epilepsy. 

“This is the very first gene regulation trial, or disease-modifying therapy, in any epilepsy whatsoever,” Dr. Laux said. 

The trial targets the SCN1A gene, which helps the brain generate and transmit electrical signals. In most people with Dravet syndrome, one copy of the gene is mutated, leaving the brain with only about half the sodium channel protein it needs. That shortage disrupts brain signaling, causing seizures along with cognitive and motor challenges. 

The experimental drug, zorevunersen, is designed to help make up for that loss by boosting protein production from the healthy copy of the gene. Participants receive the treatment through an injection into the spinal fluid every four months, under anesthesia. 

“The hope is that it will help not only the seizures, but also the developmental impairment, the gait issues, the fine motor issues, behavior issues — everything else that goes along with Dravet syndrome,” Dr. Laux said. 

After an observation and qualification phase, Owen was accepted into the trial. In May 2023, he received his first dose of zorevunersen. 

Hope for the Future

Two and a half years later, 12-year-old Owen has experienced a significant reduction in seizure activity. 

“Over time, we began to see steady improvement,” Austin said. 

That improvement has helped Owen grow developmentally. A common trait of Dravet syndrome is slowed or even stagnant development beginning at age two. 

“In a lot of ways, the development trajectory has been restarted,” his father Stewart said.  

Owen’s expressive and responsive language has improved — and for the first time since kindergarten, he is back to school in person.  

“He is able to make friends, which is kind of a new development,” Austin said. “His quality of life has increased substantially so that he's able to enjoy more activities with neurotypical peers.”
 
During his follow-up appointment, Owen cheerfully listed the names of those new friends. This year, he even joined them on the basketball team. On the first day of practice, Stewart and Owen educated the team on Dravet syndrome.  

“Together the team decided that if Owen had a seizure, they would surround him on the court,” Austin said. “A bunch of 6th grade boys made a plan to give him privacy, dignity and understanding. How wonderful is that?” 

These milestones represent life moments that Austin and Stewart once thought might never be possible for their son. 

“We see those developments, see he's doing these things, and feel a new sense of hope,” Stewart said. 

Owen’s family hopes that the trial will instill similar hope into the future of all children with Dravet syndrome, and that eventually, this treatment can be available for early intervention. 

Owen will continue the medication through an open-label extension of the trial. Traveling across the country every four months is no small feat for the family. But according to his parents, the results have been invaluable.  

“To be able to see the light return to his eyes, to see him becoming more and more himself … it has made all of it worth it,” Austin said. 

Learn more about the details of the trial here.