February 9th marks the first International SCN8A Awareness Day, a rare genetic disorder which causes severe epilepsy, developmental delay as well as other medical issues.
Only identified in 2011, SCN8A is a genetic mutation which results in a disruption in sodium levels in the brain. The mutation was first isolated by Michael Hammer of the University of Arizona, whose own daughter, Shay, was born with the condition. Shay, who passed away in 2011, was the inspiration for Hammer’s work as well as for today’s international awareness day, which would have been her 21st birthday.
For a parent, SCN8A disorder is terrifying, as most children with the disease have intractable, uncontrollable seizures which often come in alarming frequency. “He dies. He’s not breathing, he turns blue and then he comes back again,” says Cynthia Burk of Windsor, Ontario, to the Windsor Star. Burk’s son, Tristan, was diagnosed with SCN8A just last year. Now seven years old, Tristan has had 109 seizures since he was six months old, by Burk’s count.
About 70 per cent of children with SCN8A disorder have seizures, which can sometimes result in death, described as sudden unexpected death in epilepsy (SUDEP). Although medication has been successful at making Tristan’s seizures much less frequent, Burk says that the worry is always there.
“I think every time it happens: is my kid going to die?” said Burk, who admits that she worries about Tristan having a seizure while climbing a tree or going up stairs.
For parents of children with SCN8A, the community is still small —only nine children in all of Canada have so far been diagnosed with SCN8A disorder and only 150 worldwide. Children with the disorder struggle with debilitations, as well. According to the SCN8A community group, 50 per cent of those with SCN8A are unable to walk, 50 per cent are nonverbal and 30 per cent lack head control.
Research on SCN8A is still at its early stages, with scientists only beginning to understand the disorder’s genetic and biological markers. In 2015, a trio of studies on SCN8A was presented at the American Epilepsy Society’s Annual Meeting, revealing that the random genetic mutation that causes the disorder is linked to an alteration in sodium currents that interferes with electrical signalling in the hippocampus, causing early infantile severe epilepsy and cognitive impairment.
The rarity of the disorder proves challenging for parents. Juliann Bradish of Kalamazoo, Michigan, whose daughter, Adeline, was diagnosed in 2013, says that when her daughter received her diagnosis, there was almost no information available. “So neurologists, they don’t learn about it until the day they get their patient’s genetic test results and they look and say: ‘SCN8A, what’s that? Let me go to Google,’” says Bradish, who has since co-founded an online support group for parents and caregivers dealing with SCN8A.
The small community is growing, however, in part with the help of an SCN8A registry created by Hammer, who says that he is “moved by the extraordinary effort and commitment of families with children struggling with SCN8A and their efforts to promote awareness and support the registry.”