It was a sight Catherine Nantel, mom to then 8-year old Zoé Sankowski, will never forget. Her daughter suddenly fell to the floor and appeared to be choking. “I panicked,” she says, adding that she immediately called 911. “The woman on the phone told me to stay on the line and continued to speak to me, asking me questions, telling me to stay with her.  I couldn’t even think.” Fifteen minutes later, the ambulance arrived. “I suddenly realized when the paramedics got to the house, she wasn’t choking…she was having her first seizure.”

As Catherine would learn, seizures can sometimes look very different from one patient to another.  Zoé’s first seizure was serious, and was followed by many others within short periods of time, but they didn’t involve what many people believe a seizure to look like: she did not convulse, her eyes did not roll back into her head. She would remain conscious and would lose focus, and sometimes fall to the floor. “Had I known this before my daughter had her first seizure, I might have had a better idea of what was going on,” says Catherine.

From the ambulance at their home on the south shore of Montreal, Zoé was soon transferred from Charles Lemoyne Hospital, where she was initially stabilized and cared for, to the Montreal Children’s Hospital’s Pediatric Intensive Care Unit. “Doctors had to place her in an artificial coma for 17 days because she was having seizures every 15 minutes,” says Catherine. Zoé’s room slowly became filled with half a dozen machines to monitor her brain waves and administer medication. Specialists were consulted from a number of different departments to try and understand what might have caused Zoé’s sudden aggressive seizures. Every possibility was considered, including the fact that Zoé was also diagnosed with autism spectrum disorder earlier in childhood. “We met with genetics, infectious diseases, neurology and many other health professionals to try and figure out: was this caused by some sort of infection? What was going on?” But it still remained far from clear.

Uncovering a new diagnosis

Slowly, over a period of weeks, Zoé’s condition began to improve, as she started walking and talking more, and began to recognize those around her. The Sankowski family was referred to pediatric neurologist, Dr. Guillaume Sébire, clinician-scientist and Director of the Division of Pediatric Neurology at the Children’s. “He couldn’t believe Zoé’s case,” says Catherine, “especially because her seizures had initially calmed down and now they were suddenly back full force.” After reviewing her case extensively and speaking with the family, Dr. Sébire explained Zoé’s diagnosis, in the family of epilepsy, called autoimmune encephalitis.

“Epilepsy is sort of an old term used to describe a condition where a patient experiences seizures that last many weeks,” says Dr. Sébire. “But there are thousands of different causes of epilepsy. In Zoé’s case, she has a condition in which her body’s immune system reacts and attacks her brain. This causes inflammation in her brain that excites certain neurons, causing them to dysfunction. The result is epileptic seizures or sometimes some loss of brain cells.”

To control her seizures, Zoé takes a number of medications, but these aren’t currently doing enough to control the number or the frequency of seizures she is experiencing. Because of this, Dr. Sébire recently started Zoé on a new immunoglobulin treatment, which targets antibodies within her blood in the hopes that this may prevent her body’s immune system from attacking her brain altogether.

“The treatments will last 4 months so that we can hopefully regulate Zoé’s immune response,” says Dr. Sébire, “if it does, we could continue the treatment for a year to two years and it could completely eliminate the pathology of her disease, hopefully eliminating her seizures.”

The treatment must be administered in the hospital intravenously, and requires many scheduled hospital visits, but if successful, could be life-changing.

Adjusting to a difficult new normal

The thought of seeing a day when her daughter could be seizure-free is a dream that Catherine longs for, but can’t quite yet wrap her head around. “The thing about epilepsy is that you can’t prevent or control the seizures. It’s an illness that comes with a lot of apprehension and worry because it doesn’t just affect your child, it affects the whole family.”

Catherine and her husband understand that seizures are not dangerous for their daughter, simply a symptom of her condition, yet as Catherine explains, “you still have to live with them and manage all the risks associated with whether she will have one.”

While she and her husband do their very best to ensure that Zoé is able to participate in activities just like other children her age, Catherine says assessing daily risks is a new reality for their family. “Our circle of friends has gotten smaller and our calendar has gotten shorter, we don’t plan too far in advance,” she explains. “We have to make sure to choose the right activities for Zoé and constantly evaluate: what happens if she has a seizure in the middle of day camp? What do we do if we go to a birthday party and she has a seizure right then and there? It’s very hard. But every day she doesn’t have a seizure is a tiny victory.”

It’s a tiny daily victory that Dr. Sébire shares as a goal for the future. Through research, his hopes is to offer families like Zoé’s more targeted and personalized treatments through genetic mapping that could give them more answers than medicine can currently provide. “An illness like Zoé’s that is still misunderstood in many ways, causes a lot of suffering for the entire family. I believe research holds the key to better understanding in the future, which can help provide answers where there were none before.”