Jayde James, (L), with her mom, Nicole. (Photo: Courtesy Nicole James)
At just two months old, Jayde James had a febrile seizure, which is a convulsion in an infant that’s caused by a fever, often associated with an infection.
Two months later, she had another seizure.
By the time Jayde was eight months old, she was having seizures without fevers and was on several different medications.
This is when Jayde was diagnosed with a seizure disorder. No one knew why she was having seizures, and as such, there was never a real treatment plan. It was just a string of random trials and errors.
“Jayde was born full-term, with no complications during pregnancy or labour,” says Nicole James, Jayde’s mother. “It was hard sometimes because Jayde was non-verbal with a developmental delay.”
It wasn’t until 2020, at the age of 23, that Jayde was finally diagnosed with Dravet syndrome under the care of Dr. Danielle Andrade, a neurologist and the Director of the Krembil Brain Institute Adult Genetic Epilepsy (AGE) Program.
Dravet syndrome, previously known as Severe Myoclonic Epilepsy of Infancy, is a rare form of genetically-determined treatment-resistant epilepsy that begins in infancy and progresses into adulthood, which can significantly impact individuals throughout their lifetime.
Due to the rareness of the disease, it sometimes goes undiagnosed or misdiagnosed.
“Today, Dravet syndrome is known among pediatric neurologists, but in the past, even they were not familiar with this rare disease,” says Dr. Andrade. “Nowadays, there is more widespread knowledge about Dravet syndrome among child neurologists, and several papers written about the condition in children, but there is very little known about Dravet syndrome in adults.”
Research shows that internationally, Dravet syndrome affects one in every 15,000 people. Based on the frequency in the Canadian population, there should be approximately 2,420 Dravet patients, yet there are only 300 known cases.
“There are hundreds of people out there living with Dravet but don’t know about it,” says Dr. Andrade, “We want to change that.”
“If we had found out sooner about Jayde’s Dravet diagnosis, maybe her treatment would have been different and she would have been seizure-free sooner,” Nicole says. “I do think about that.”
A recent study published by Dr. Andrade and her research team examined the motor ability of patients, looking at areas such as gait, resting tremors and abnormal body movements, in the hope of learning more about the disease and finding ways to better manage it.
When compared to healthy individuals with an average age of 62, Dravet patients (who had an average age of just 31 years) fared much worse when it comes to their gait abilities.
“Another thing that we observed…as time goes by, the gait and the overall motor abilities of adult patients gets much worse,” says Dr. Andrade. “Some of them will stop walking in their mid-40s.
“It’s a very severe burden of disease that we are seeing.”
The study examined six patients through a modified version of the Unified Parkinson’s Disease Rating Scale over a five-year period, between 2014 and 2019, and another larger group of patients was evaluated between 2019 and 2020.
According to Dr. Andrade, in addition to epilepsy, many Dravet patients also have autism spectrum disorder, intellectual disability and features of Parkinson’s disease. These patients can also have a 10 per cent to 15 per cent higher risk of sudden death in epilepsy when compared to the general epilepsy population.
Dr. Andrade warns that some of the common anti-seizure medications that many epilepsy patients take can actually make epilepsy symptoms worse for Dravet patients.
“So, we have to be selective in terms of what we offer these patients because they can have a worse outcome,” says Dr. Andrade.
Dr. Andrade is a leader in Canada and internationally in her research and clinical expertise in Dravet syndrome and epilepsy genetics in adults.
She and her team will continue to study various genetic epilepsies, including Dravet syndrome, and their long-term outcomes.
“We want to help more patients out there living with Dravet,” says Dr. Andrade, “Our next step is to find ways to slow down and try to prevent this mobility burden.”
After switching to a new medication, Jayde has been seizure-free for nearly two years.
“I’m very happy with the progress that we’ve seen,” says Nicole. “Jayde is sweet, kind and affectionate. She loves being out in nature and loves being around animals.
“She’s like a flower that’s blossoming and we’re enjoying that.”