Inside Epilepsy: Studying genetics to improve on screening, treatment
Watch the video above: Digging into our DNA to learn more about epilepsy. Crystal Goomansingh reports.
TORONTO – Just for a day, Guida Clozza wanted her 21-year-old daughter to feel like a princess.
It was more than two decades ago when her baby, Daniela, suffered bouts of seizures at only three months old. The diagnosis didn’t come right away, but it became clear to doctors: Daniela had epilepsy.
She would have tonic clonic seizures – nicknamed grand mal seizures – that often came in clusters, sometimes five to seven in one night. She was also at risk of SUDEP – or sudden unexpected death in epilepsy.
“That was the scariest part for my husband and I, always worrying that her next seizure would be her last seizure,” Guida told Global News.
READ MORE: Inside Epilepsy
The Clozza family trudged on: their daughter tried a string of medications to see which were most effective. They switched to a ketogenic diet for four years. Daniela’s parents, Guida and Wally, rearranged their professional lives and hired a nanny.
“You just readjust your whole life. She needed routine, that’s what we found immediately. That was probably the most difficult part, thinking you have your only child, you want to go the zoo or stay out all night at the water park. It never happened for us,” she said.
“Because we had no formal diagnosis, there was no rhyme or reason where these seizures were coming from,” Guida said.
The seizures, still tonic clonic ones for the most part, have followed Daniela into her adulthood.
What is epilepsy?
Wednesday marks Purple Day, an international effort dedicated to increasing awareness about epilepsy worldwide.
Epilepsy is a physical condition marked by sudden, brief changes in the brain’s function.
The unusual activity in the brain causes patients to have recurring, unprovoked seizures, according to Dr. Andrade, director of genetics at Toronto Western Hospital’s Krembil Neuroscience Centre’s epilepsy program.
There is a wide spectrum when identifying a seizure, from convulsions on one end to tuning out for just a few seconds before returning to regular activities.
“A seizure is an abnormal electrical discharge in the brain. So some part of the entire brain starts firing up very quickly and this may cause symptoms depending on what part of the brain is firing abnormally,” she told Global News.
For instance, if a seizure triggers the part of your brain that controls vision, you could have problems with vision during the episode. If the seizure affects the part of your brain that deals with speech, you’d have speech difficulties, Andrade explains.
If both sides of the brain fire up simultaneously, patients could experience a convulsion – a medical condition in which the body’s muscles contract and relax quickly causing uncontrolled shaking.
Using genetics to learn more about epilepsy
Andrade founded the Genetics of Epilepsy Program at the neuroscience centre. There, her research focuses on better understanding epilepsy by zeroing in on genetics.
Information is gathered through genetic testing and an array of family testing to gain insight about a diagnosis. Scientists also zero in on genes for epilepsies that are difficult to treat to find new drug therapies.
(To be clear, epilepsy is not genetic. Andrade says that she often sees patients with very severe epilepsy without any family history. “It’s something that happened where the genes got altered at the moment of the fertilization. It wasn’t inherited from the mother or the father,” she said.)
“Since 2010, we started looking more carefully at the genetics of epilepsy. We evaluate patients where we cannot find an obvious cause of their epilepsy so we evaluate them to see if they have a genetic variation that is responsible for their seizures,” Andrade explained to Global News.
In Daniela’s case, through her transition, Andrade was able to hand the family a specific diagnosis: Dravet Syndrome, a rare form of intractable epilepsy that begins in infancy.
Guida said it threw her for a loop. “It really kind of hit us again when you get a diagnosis of having a child with a disability and something as severe as seizures at three months of age. You get used to it and then to hear that she has something that’s rare and catastrophic, it was hard to hear,” she told Global News.
But it’s helped the family find clarity and a game plan to carry out: Daniela is thriving under new medication. Guida, who is now retired, cofounded Dravet.ca, a Canadian network for families, friends and caregivers of people living with the condition.
And the family took a vacation together to Disney World last fall to celebrate Daniela’s 21st birthday. She had graduated and her parents had retired.
“I just wanted her to be a princess,” Guida said.
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Andrade is working with patients and their families, hoping to shed more light on their diagnoses. She said research in the field has been moving quickly – about a decade ago, scientists could only identify genes when they had a very large family with several genes of epilepsy.
“The technology has changed so much now we can find genes, abnormal genes, when there’s even only one person in that family with epilepsy,” Andrade said.
© Shaw Media, 2014