Stephanie Gandomi

What will you do for Purple Day?

Stephanie Gandomi, MS, LCGC, Invitae

Epilepsy is one of the most common neurological conditions, affecting more than 50 million people around the world. Yet it remains widely unrecognized or severely misunderstood, and far too often patients are stigmatized and isolated.

Invitae is working with advocacy groups to change that. In honor of World Epilepsy Day on March 26, we recognize individuals living with the disorder and remember past generations who suffered both from epilepsy and because of society’s lack of awareness.

Epilepsy has been recognized for millennia, and many well-known figures suffered from epilepsy, including Socrates, Joan of Arc, Napoleon I of France, Pope Pius IX, Harriet Tubman, George Gershwin, and Neil Young. Yet for much of history, individuals with epilepsy have been treated as outcasts. In pre-historic through medieval times, the condition was often thought to be due to spiritual possession. Even through the late 1800s, many states in the US banned individuals with epilepsy from marrying and restricted reproductive rights.

Thankfully, due to the hard work of patient advocacy groups, dedicated clinicians, and scientific research, individuals with epilepsy today face less stigmatism than ever before. Children with epilepsy now have opportunities to attend regular schools, reproductive rights are not an issue, and society as a whole is more cognizant of the support needed to help those with epilepsy.

Despite this progress, we still have a long way to go.

Although epilepsy can be triggered by brain injury, stroke, or brain tumors, there is no identifiable etiology in more than 60 percent of cases. Genetics is thought to play a role in more than half of all epilepsy cases, yet so far only 1 to 2 percent has been linked to a single gene defect.1 The great news is that this statistic is rapidly changing. With the introduction of next-generation sequencing as a diagnostic tool, and the collaborative efforts of research consortiums like Epi4K and EuroEPINOMICS, we’ve seen an explosion in the discovery of epilepsy-related genetic variants. Patients are receiving once considered unattainable answers that can explain the cause of their epilepsy. Identifying these underlying genetic causes has already greatly enhanced the potential for early therapeutic intervention to alleviate some forms of epilepsy, the development of novel pharmacologic treatments, and more informed reproductive risk assessments.

Epilepsy can present in a variety of ways, creating challenges for both clinical diagnosis and management. Using multi-gene panels instead of single-gene testing, clinicians now have the opportunity to simultaneously sequence a variety of genes implicated in causing seizures and appropriately tailor their patient’s care based on genetic variants. It’s a powerful example of precision medicine driven by genomics.

Invitae is working to offer the most cost-effective, high-quality genetic testing services to patients with epilepsy.

On World Epilepsy Day, also known as Purple Day, the epilepsy community continues to strive for better and more accessible education, increased awareness, and advanced research to make epilepsy a disorder that can be diagnosed and treated early. Without the passion of these collective forces, patients would still face the challenges of generations past and the future of precision medicine would not be so bright.

For more information about World Epilepsy Day, please visit these websites:
• Epilepsy Society: World Purple Day Partner
• International Bureau for Epilepsy: International Epilepsy Day 2015
• Purple Day: About Us
• International League Against Epilepsy: Global Awareness and International Epilepsy Day
• SUDEP Action: International Epilepsy Day

1 Pandolfo, M., Genetics of epilepsy. Semin Neurol. 2011; 31:506–518.