an epilepsy disorder so rare this boy is one of nine in canada

by brian cross

cynthia burk and chris savard lose their seven-year-old son tristan for five to 10 seconds every time he has a seizure, caused by a genetic disorder so rare and newly identified, he’s one of only nine kids in canada who have the diagnosis.“he dies. he’s not breathing, he turns blue and then he comes back again,” says burk, who charts every one of these shaking, eyes-rolling, violent seizures — all 109 of them — since tristan had his first when he was a six-month-old baby.after years of testing, tristan was finally diagnosed in june 2016 with scn8a, a disorder that was only identified in 2011 by geneticist michael hammer, who had been researching the cause of his daughter shay’s epilepsy. he made the discovery just weeks after shay died at the age of 15 from sudden unexplained death in epilepsy, which happens more frequently to kids with scn8a.while only 150 now have the diagnosis worldwide, hammer — a research scientist at the university of arizona — said that number is growing quickly as more kids with epilepsy get the more specific diagnosis.“this has been going on forever, we just didn’t know what it was.”estimating several thousand kids have it in the u.s., hammer said his goal is to develop a safer treatment. currently, the kids have to take “all kinds of horrible drugs” with terrible side-effects to cope with their seizures.tristan’s seizures are much less frequent than they used to be thanks to medication. they’re brief compared to what others suffer and he’s closely monitored so burk and savard, along with school staff at our lady of annunciation in stoney point, are seconds away in the event of a seizure.“but i think every time it happens: is my kid going to die?” said burk, who also frets about tristan having a seizure while climbing a tree or going up stairs.savard, who’s manager of devonshire mall, said when tristan has a seizure and turns blue, “it’s always a scary, scary thing.”in addition to having this rare disorder, tristan is also autistic. he’s mostly non-verbal, has trouble with fine motor skills and has slow cognitive development. he’s integrated into his grade 1 class at our lady of annunciation, where he’s thriving, trying to keep up with his classmates.“i’ve learned a lot from him in terms of his tenacity, his positive attitude, his willingness to take adversity head-on. it forces you to focus on the positive,” savard said. of the 150 kids around the world diagnosed with scn8a epilepsy, half are unable to walk and many have little control of their muscles and are fed through a tube.“tristan is physical, he’s a very happy kid, he can walk and run and jump and do all the things some children in that 150 group can’t do, so from that we’re very, very fortunate,” said savard.as the only family with a child diagnosed with scn8a in all of southwestern ontario, savard and burk are going public to raise awareness about the rare disorder. thursday is the first international scn8a awareness day. it would have been shay hammer’s 21st birthday.“our hope is just to help people understand,” said juliann bradish, a kalamazoo, mich., resident and co-founder of an online support group now comprised of 125 of the 150 affected families around the world. when bradish’s daughter, adeline, was diagnosed in 2013, there was almost no information about it, she said.even now, many doctors have never heard of it. “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.’”burk said since tristan’s diagnosis last year, the support group has been tremendous. “we share all kinds of concerns, we bitch a little bit, comfort each other.”because it’s so new, there’s no established treatment, other than controlling it with medication. “we need more information,” said burk, who’s put her career on hold to work with tristan since the family moved here from cornwall about five years ago.in 2016, good control helped keep the number of seizures down to four. meanwhile, he’s making steady progress in his development. he can speak about 20 words and uses a tablet-like device to communicate. at school, he used to “parallel play,” meaning he played alongside other kids, not with them, but now he’s learning to interact with classmates in a more typical fashion.“he’s full of life, very loving, a very, very active kid,” burk said.because the identification of scn8a is so recent, tristan’s future is unknown. they’re hoping he’ll eventually outgrow his seizures, burk said.“we just assume that tristan will lead a long life and that’s what we prepare for.”bcross@postmedia.com