Developing Better Treatment Strategies for Rare Epilepsies

Developing Better Treatment Strategies for Rare Epilepsies 

Gabi is mom to 9-year-old Elliott who struggles with a severe form of SCN8A, a genetic mutation that results in epilepsy and many other health and developmental challenges. Seizures in children with SCN8A variant mutation are frequent and occur multiple times a day. When Elliott began having seizures, Gabi and her family were told that the seizures were likely to either resolve or morph into a different form of epilepsy.

“We noticed that Elliott kept missing developmental milestones and his seizures did not subside,” said Gabi. “In fact, they worsened after many months of upping his anti-seizure medicine. In the beginning, despite trying and failing many different drugs, we tried to hold onto hope that the day may come when Elliott would catch up developmentally and the seizures would fade away. After a while, we watched as our child seized over and over again and felt utterly discouraged.”

When Elliott was 15 months old, he was diagnosed with SCN8A-related epilepsy.

“The doctor handed us a single article and told us that there were only 12 known other cases in the world. The doctor had no idea about Elliott’s prognosis or how to help him. I sat stunned as I held my sweet boy in my arms.” 

Unfortunately, this is not uncommon for families of children diagnosed with rare epilepsies. While many physicians don’t come across these cases in their practice, others with experience in rare disorders are often more aware. However, there are too many new genetic epilepsies emerging to remain updated on all of them. Without systems in place, patient advocacy organizations— such as the International SCN8A Alliance, run by Gabi — are forced to raise funds and take on the work of advancing treatment guidelines, one disorder at a time. With a growing community of rare epilepsies, there must be a better way.

Like cancer, epilepsy is comprised of many causes. One in 26 people in the United States will develop epilepsy during their lifetime. With advances in genetic testing and imaging, the incidence and diagnosis of rare epilepsies, like SCN8A, are on the rise. Yet, best practices for identifying, treating, and managing these complex disorders are not broadly understood. 

The Centers for Disease Control and Prevention, in partnership with the Epilepsy Foundation and the American Academy of Pediatrics, have funded a first-of-its-kind Rare Epilepsy ECHO launching early in 2023. Project ECHO® (Extension for Community Health Outcomes) is a model created to disseminate knowledge from experts to diverse care providers.  

In 2019, the Epilepsy Foundation and the University of Cincinnati Gardner Neuroscience Institute launched Project ECHO for epilepsy and neurology to help primary care clinicians and other healthcare professionals improve care for adults with epilepsy and other neurological conditions. 

The PCP ECHO, which was focused on Ohio, was a big success in helping identify key topics for PCPs in caring for epilepsy and other neurology concerns. Further, it created opportunities for PCPs to bring their questions to experts, like grand rounds. The Rare Epilepsy ECHO will focus on the needs of those with rare epilepsies — including hundreds of individual disorders. It also aims to engage providers in rural communities, and others who may not have access to specialized epilepsy centers.  

"We are excited about the Rare Epilepsy ECHO as a way to provide clinicians with critical information they may have never seen before and share best approaches for diagnosing and treating patients with rare epilepsies.”

As it builds the Rare Epilepsy ECHO, the Epilepsy Foundation is gathering feedback from healthcare providers to help improve the transfer of knowledge from specialists to persons on the frontlines diagnosing and managing patients. If you are a primary care provider, neurologist, nurse, geneticist, or other care provider, we invite you to share your perspective and needs for diagnosing and treating persons with rare epilepsies. We welcome your feedback, and that of your colleagues, by July 10 via the Rare Epilepsy ECHO - Professional Survey.

Together, we can better improve treatment strategies for children like Elliott, and others with rare epilepsies.