In his last few years, Paul Mancuso has experienced what could be described as a “life-changing” experience.
He is the director of research at the Centre for Epilepsy and Sleep Disorders at the University of Queensland in Brisbane.
“I was having problems with my memory and I was having a difficult time sleeping,” he says.
His symptoms improved after he started treatment for severe epilepsy at the age of 17.
It was at the time that his condition was initially treated with a combination of drugs, including steroids, and was later diagnosed with Dravet syndrome.
But as his seizures worsened, his life changed.
At the age to which he was accustomed, he had trouble getting out of bed at the weekends and had trouble concentrating.
Paul Mancuos with his daughter, Dravets, who was born with the condition.
He also had a history of depression, anxiety and social anxiety disorder.
Dr Mancuzos says the condition is an “insidious” one, and he is lucky to have had the support he did from doctors, including Dr Jodi Linn-Berthelot.
“[Dr Linn Berthelot] is one of the best doctors in Australia, she’s got a fantastic reputation,” he said.
“I had a terrible time dealing with it, so much so that I quit the medical profession for about six months.”
Dr BerthelOT has a keen interest in the history of epilepsy, and she’s found that Dr Mancuesons experiences were similar to those of others in the field.
“She’s been really helpful in understanding the genetics of this disease and has actually been able to identify some of the gene variants associated with this,” he explains.
“They’re a lot like the genetic variants associated to schizophrenia and they’re very common, so it’s not uncommon for people to have a few variants associated.”
“It’s not a new phenomenon, it’s actually quite common, and it’s very difficult to treat.”
Dr Macuzos is hopeful that his experience will help others who have epilepsy who struggle to find treatment.
“We’ve known that these variants have been associated with many of the conditions associated with schizophrenia,” he tells news.com.au.
While Dr Berthelotte says she can’t speculate on what might have been behind the genetic variations in Dr Macuzzos case, she does say her work could lead to a new treatment.
The research on Dr Mascuzzos and others like him, is being funded by the Australian Research Council, and Dr Bertheson is excited about the potential it could lead us to a better understanding of the genetic underpinnings of epilepsy.
She says she’s excited to see more people affected by this condition being treated by experts, and hopes that this could be a way to treat more people in the future.
Topics:health,diseases-and-disorders,epilepsy,medical-research,psychiatry,health-policy,psychosocial-behaviour,psychology,psychobiology,health,aboriginal-andamphibian-aboriginals,qld,brisbane-4000,brisden-3050More stories from Queensland