Epilepsy Foundation Research Grants Target Rare Dravet Syndrome
“This is huge!” said Mary Anne Meskis on hearing the Epilepsy Foundation had awarded three grants totaling nearly $100,000 to study one of the most severe forms of epilepsy: Dravet Syndrome. “We haven’t seen that many grants for that much money at once. I’m just amazed.”
Meskis’ son was diagnosed with Dravet Syndrome in 2004, “back when there were only about three hits about it on Google,” she explains.
Like many other parents whose children have severe epilepsies—West, Lennox-Gastaut, Otahara Syndrome among others—Meskis took up the cause for a cure, co-founding and now directing the Dravet Syndrome Foundation in Connecticut.
Otherwise known as Severe Myoclonic Epilepsy of Infancy, Dravet Syndrome usually appears before a child’s first year. Characterized by the French neurologist Charlotte Dravet in 1978, the syndrome has clear genetic causes and well-defined treatments.
But Dravet Syndrome is rare—it "maybe affects 20-40,000 people worldwide," Meskis says.
The Dravet-related grants will not only fund critical research, but just as importantly, “help raise awareness,” she explains. “The Epilepsy Foundation is so much larger than our groups, and awareness about Dravet Syndrome, its genetic basis, and treatment options is critical, especially to neurologists, many of whom still don’t know much about it.” [See Sidebar]
The Epilepsy Foundation grants will help researchers at the Mayo Clinic, the University of Colorado, Stanford, and the University of Michigan.
Grant awardees are studying innovative new Dravet Syndrome therapies; genetic mutations that cause the disease; and a way to bring researchers in all the rare childhood epilepsies together, for collaboration and someday, a cure.
Jeffrey Calhoun received $20,000 for work he will perform with Lori Isom, Ph.D., a pharmacology professor who directs the University of Michigan biomedical sciences program.
“Our Epilepsy Foundation grant will allow us to study developmental defects involving SCN1B, an important epilepsy gene, in detail,” says Calhoun, a graduate student. Patients who inherit SCN1B gene mutations have Dravet Syndrome.
A multi-center study to understand therapies is behind a $33,000 grant Mayo Clinic neurologist, Elaine Wirrell, M.D., and team received. “The Epilepsy Foundation grant is important as Dravet is one of several rare forms of pediatric epilepsy,” she says. “No one center sees adequate numbers of patients to be able to study, on their own, the best therapies.”
The largest Dravet Syndrome research grant—$45,000—went to Yishan Sun, Ph.D., a Stanford University postdoctoral fellow, and his faculty advisor, neurobiology professor Ricardo Dolmetsch, Ph.D. "The Epilepsy Foundation funding is very important. Without it, we probably wouldn't be able to do the research at all," Dolmetsch said. "It's difficult to get funding in the first place, and this grant is one of the very, very rare fellowships available for post-doctoral fellows."
A healthy infant without a hint of trouble ahead, Mary Anne Meskis' son had his first seizure at 6 months of age. It lasted nearly two hours. For the next three years, 4 to 8 status tonic-clonic seizures per month had her family in the emergency room and their doctors searching desperately for answers.
Anti-epilepsy drugs failed, or aggravated his condition. Test after test came up without answers. It wasn’t until neurologist Linda Laux, M.D. suggested Dravet Syndrome that her son started to get his life back.
Though he still has developmental delays and trouble walking, in all other ways, Meskis’ son is a happy, loving 12-year-old boy. And it's because of research, therapies, and treatments like those the “Epilepsy Foundation has graciously chosen to support,” Meskis says. “The news about these latest grants is very exciting.”
Dravet Syndrome: The Importance of Awareness
After Grapevine, Texas resident Chuck Sparks published a 2007 In My Own Words column about his daughter Shelby in EpilepsyUSA, he and wife Lauren heard from Jennifer May, who told the Sparks that Shelby sounded like her son.
Chuck had written of feeling “helpless” as he described seizures without a diagnosis.
May’s call—which Lauren says she “initially blew off because I felt like we had run every test and looked under every rock we could for Shelby”—turned over the biggest rock of all by bringing home the importance of a proper Dravet Syndrome diagnosis.
A member of the nonprofit International Dravet Syndrome Epilepsy Action League, May suggested that if the Sparks wanted to better understand their daughter, they could start by looking at the organization’s website.
“I felt like I was reading a description of Shelby,” Lauren Sparks says. “We asked to have her tested, and finally had our diagnosis.” Lauren would eventually meet and thank Jennifer, “for taking the time to get the word out, and changing our lives.”