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In 2004, when Isabelle Siciliano was 13, she woke up in the middle of the night to a loud commotion and family members hovering over her bed. "I felt nauseous and very disoriented," she recalls.
She'd had a seizure. After a series of medical tests, Isabelle received a life-changing diagnosis: She had tuberous sclerosis, a genetic condition that causes mostly benign tumours inside the body.
Isabelle, now 27, had one tumour on her heart, which has since gone away, and still has them on her kidneys. She can still develop growths on her lungs, and she risks passing the condition on to future children.
But most troubling of all is that tumours in her brain cause nerves to misfire, creating seizures. When someone has regular seizures like this, they're considered to have epilepsy.
Epilepsy can be caused by genetic factors, like in Isabelle's case, or it can be caused by brain injury, cancer, stroke or other unknown reasons. While the other aspects of her original diagnosis worry her, it's the epilepsy that impacts Isabelle's life every day.
She takes medication but can never drive. She goes to bed at 8 p.m., or risks the possibility of sleep deprivation causing more seizures.
"Even stress itself can be a trigger," says the Toronto-based theatre educator.
In her early 20s, Isabelle developed severe anxiety. That's partly because of what happens in the brain when a seizure occurs – doctors think that the process of nerves misfiring can create anxiety in itself – but it's also because of the stigma associated with epilepsy.
According to a 2008 study from the Canadian Journal of Neurological Sciences, people with epilepsy are often "wrongly viewed as having mental health and antisocial issues and as being potentially violent toward others," and, say the authors of the report, "they fear rejection and often feel shame or loneliness from this diagnosis."
While epilepsy has been around for centuries, few know it's one of the most common neurological diseases in the world, impacting an estimated 350,000 Canadians, and 50 million people worldwide.
"I'm sure everyone knows someone who has it, but they just don't know who," says Dr. Danielle Andrade, medical director of the Krembil Brain Institute's Epilepsy Program.
Silence has led to a lack of understanding. "Every time I disclose that I have epilepsy, I am fast to say, 'Don't worry – you might be thinking I'm going to drop down on the ground and convulse, but I'm not going to do that.'" says Isabelle.
These attitudes have made it harder for researchers to attract generous charitable donations and land big government research dollars.
At Krembil, though, work is underway to change the lives of people with the disorder, including their treatment and how they're viewed by the public. With a patient base of 2,000, one of the largest in the world, Dr. Andrade and her team are doing much-needed work on the genetics of the disease and using new cutting-edge technology to better understand seizures and improve brain surgery outcomes.
The Krembil Brain Institute has teamed up with
The Globe and Mail on a special project showcasing the pioneering science, groundbreaking discoveries and world class innovation underway at Krembil. The Institute's dedicated scientists and clinicians are devoted to finding treatments and cures for Stroke, Epilepsy, Alzheimer's, Parkinson's, Pain and Concussion. Inside this issue, you'll learn more about their incredible research and how it directly impacts patient care.
The magazine is now available online