On a stormy April afternoon in Washington, D.C. four families who know each other only through the Internet meet in person for the first time. A photographer snaps photos in the grass as parents, children and grandparents shake hands, hug and laugh with each other.
The families have traveled many miles to witness a historic conference: the first-ever gathering of researchers and clinicians regarding a rare, recently discovered genetic issue their children share that is associated with epilepsy and other symptoms that interfere with development. Researchers have come from as far as Australia and Japan for the event, organized by Children’s National Medical Center researchers and timed to coincide with the American Academy of Neurology meeting.
“You think you’re alone, and then all of a sudden there are all of these other people around who understand you,” says Gabi Conecker, mother of two-year-old Elliott. Then Elliott’s oxygen levels start dropping, and they hook him up to a portable oxygen machine. They take it everywhere.
A year ago, the Coneckers didn’t have any diagnosis. They had a son with regular seizures who hadn’t met a single developmental milestone. The first year, he didn’t even smile. Test after test found nothing. “We got so sick of negative results,” says Elliott’s father, John.
The rain comes and people gather inside, sharing stories of negotiating airport security with unusual medical equipment, of filming their child’s seizures, of doubting doctors—and of the day they got the diagnosis: a mutation on the SCN8A gene.
John boots up his computer to demonstrate how to turn down the volume on the incessant beeping of Elliott’s pulse oximeter, a sound that elicits a shudder from everyone in the room.
Soon, the scientists arrive. They huddle around a computer, talking data and case studies. JayEtta Hecker, Elliott’s passionate grandmother, wanders over. Her voice wavering, she shares her grandson’s story, and tells the scientists how much their presence means.
Michael Hammer, an accomplished geneticist who used to study human evolution, is one of the scientists. His daughter Shay had massive, unexplained seizures from an early age, and failed to develop like a typical child.
“Every developmental stage was stretched out,” said Michael. Eventually, he wondered if there might be a genetic cause, and used his expertise to study his own family. Then, not uncommonly for people with epilepsy, Shay suddenly died. Michael decided to continue the research.
A few weeks after Shay’s death, Michael’s lab isolated a mutation on her SCN8A gene. Michael called Miriam Meisler, a University of Michigan scientist who studies SCN8A in mice.
“I’ve been waiting for decades for this phone call,” she told him.
In March 2012 Shay’s case was published, the first association of epilepsy in humans with a mutation in the SCN8A gene. The collaborators began examining other children with mysterious epilepsy. One by one, they found similar mutations.
Yet doctors sometimes come to the wrong conclusions. Hillary Savoie’s daughter Esmé was originally diagnosed with a mutation on a different gene called PCDH19. Hillary created a foundation to raise money for PCDH19 research and then learned that her daughter also has an SCN8A mutation.
“She was always different from the other PCDH19 children,” says Hillary. “We just didn’t know why.”
When Elliott was diagnosed with an SCN8A mutation in May 2014, the Coneckers started Wishes for Elliott, which funded the April conference in Washington, D.C. At that time, there were only about a dozen known SCN8A cases globally. Now there are more than 90.
Why? First, genetic testing costs have come down considerably. A sequencing that cost $40,000 in 2010 now costs less than $5,000, and is more likely to be covered by insurance. Second, outreach is increasing awareness among clinicians and families dealing with undiagnosed disorders. And third, SCN8A has been added to the basic epilepsy screening test.
But while a diagnosis gives a focal point, it leaves families with even more questions. Nobody yet knows what these mutations do. Nobody knows how to effectively treat the condition.
About 40 SCN8A families share information and pool resources through a private Facebook group. Their hunger for answers leads to extensive data collection, anything that could provide a clue. They film seizures, and record their duration, timing and location. They share which medicines and diets have been helpful and which have been harmful. They try new therapies. They guess.
That’s why it was so important to bring together researchers and clinicians to develop a scientific consensus. One outcome of the April conference will be better data sharing and more collaborative research. Another will be the development of a summary for doctors similar to those done for other genetic mutations (such as SCN1A) that will make it easier to identify new cases.
“When we find more of these kids,” a NIH researcher told me at the conference, “we’ll get a better picture of what causes what and why.”
When a family finds the SCN8A community, they get immediate access to a network of support. But they also get access to this new group of researchers and clinicians. Hammer is setting up an interactive website that will collect data to look for patterns in existing group members and in new affected individuals.
The families act with full awareness that their children may not benefit from any treatment that is eventually developed. But evidence of the difference they are making comes regularly.
On Tuesday afternoon, as the scientists wrapped up the conference, a Pennsylvania mother posted to a SCN8A Facebook group.
“My son... is 10 months old and has just been diagnosed with [an] SCN8A mutation,” she wrote. “I am looking to gather as much information as possible… he is currently in the ICU.”
This post was written by the author in a personal capacity and does not necessarily reflect the views and opinions of his employer.