Little Elliott’s rare condition means he can’t stop smiling, but it’s hiding a serious disease doctors are working hard to improve.
Elliott Cimino can’t stop smiling and laughing. He can’t help it.
The four-year-old’s ever-sunny appearance is a hallmark of his rare genetic condition. And while his personality is a blessing for his family as they navigate life with a non-verbal child with profound other needs, it also masks the seriousness of his condition.
Elliott has hundreds of seizures a day — and that’s on a good day. He will collapse without warning, suffering chipped teeth and face gashes in the process.
At other times he appears like he’s transfixed on something far away. And then there are jerking seizures, where it looks like he has been struck by lightning over and over and over.
These episodes can last for two heartbreaking hours. But a strict high-fat low- carb diet is so far working wonders.
Instead of hundreds of seizures a day, since coming under the care of the ketogenic diet clinic at the Royal Children’s Hospital Elliott is now having just one seizure every other day.
With the neurological electrical storm off the radar, this has freed his brain to start learning the basics of childhood for the first time, including taking his first steps with a walker just before his fourth birthday.
“It’s been life-changing. It’s amazing,” said mum Chrissy.
When Elliott was unable to sit on his own at six months of age, Chrissy and husband Ben went searching for answers.
It was an eight-month quest, seeing varying doctors and waiting for the results of genetic tests, to diagnose him with Angleman’s syndrome.
“He fits the syndrome to a tee,” she said.
In addition to the overly happy demeanour, he rarely sleeps, cannot speak and has low muscle tone.
The condition is often misdiagnosed as cerebral palsy or autism.
“It was a real shock that your kid will need lifelong care,” Chrissy said.
“But he is the most amazing kid ever. He makes me laugh and smile every day. He makes me proud. Everybody just falls in love with him.”
Despite his other challenges, the seizures are causing Elliott and his development the biggest problems.
Unusually, Elliott is under the care of three epilepsy specialists at the RCH.
Neurologist Jeremy Freeman said Elliott had been “particularly challenging” given he had such injury-prone seizures and had already failed many choices of standard treatment.
After failing nine first-line anti-seizure medications, he was given compassionate access to medicinal cannabis. This did work for six months, but his body became tolerant and the electrical storms rolled back into his brain.
A ketogenic diet, under the strict supervision of RCH nurses, dietitians and neurologists, is the latest treatment they are trying.
The theory is that as the body burns fat rather than carbohydrates for energy, this ketosis state gives the brain an alternative source of energy, which can alleviate seizures for some children.
So far, so good for Elliott.
“Because he’s not constantly having seizures, the right messages have been able to get through in the brain,” Chrissy said.
“Everybody is amazed at what he is now doing from a developmental point of view.”
It is not uncommon to walk past Elliott’s hospital room and see him holding court with doctors on their ward rounds, trying to communicate with him through his love of slapstick humour, songs and silly faces.
For her son who craves social interaction and has to rely on locking eyes or taking someone’s hand to initiate communication, Chrissy hopes that perhaps with a seizure-free brain Elliott may one day learn to use an iPad and “talk” through that.
He has started kinder. He is communicating more, and can finally take part in hydrotherapy for his physical disabilities without the risk of having a life-threatening episode in the water.
“I just wish that he will live life to his capabilities,” Chrissy said
“If we could take away his seizures, I can handle everything else that comes with his disability and what comes along with having a kid with such special needs.
“But getting those seizures under control is our dream.”
Give for the Kids
Your donations to the Good Friday Appeal help kids like Elliott
Originally published in the Herald Sun, 1 April 2021
Words: Brigid O’Connell
Photo: David Caird
Little superhero’s smile says it all
Thanks to the Royal Children’s Hospital incredible teamwork, Leo has grown into a “resilient, cheeky, part-time musician” who loves his toy instruments, animals, food and swimming.