A nine-year-old Canadian girl with autism spectrum disorder has "amazed" her doctors and scientists after they were able to send electrical signals to her brain that stopped her from inflicting severe harm on herself.
Ellie Tomljanovic who lives in Barrie, Ont., is patient number one in a world-first study to see if deep brain stimulation (DBS) can stop children who repeatedly try to hurt themselves. Doctors estimate that up to 50% of children with ASD self-harm, including by hitting themselves, biting and punching others.
Ellie’s violent outbursts were devastatingly severe. Family videos shared with CTV News show her hitting her head with her hand, trying to swallow her fist, shoving fingers up her nose to trigger bleeding along with vomiting and spitting. Her parents, Lisa and Jason, feared for her life.
"It got pretty bad. So Ellie ended up fracturing both of her cheekbones. She's also knocked out a tooth by biting the side of the bathtub and knocked out one of her front teeth," her mother said.
"I've got multiple bruises … so at SickKids both my arms were covered in bruises, bites along the side of my neck."
They say they were spending an exhausting eight to 10 hours a day trying to protect Ellie from herself.
"Our days were pretty much holding Ellie down. So we had to hold down her, her legs and her arms, just so that she wouldn't hurt herself," said Lisa.
In rare cases, children who self-injure can cause brain injuries, blindness, and even death. Doctors think it's how some children show frustration, especially those like Ellie who aren't verbal. Ellie is diagnosed with Pitt-Hopkins syndrome, a rare genetic neurological disorder that's part of the autism spectrum.
When sedatives and anti-psychotics stopped working, Lisa and Jason found themselves at a moment of crisis.
"It's not sustainable," said her mother. "We cannot physically hold her down all day, all night, not sleeping."
That's when they took her to The Hospital for Sick Children, where Ellie was admitted.
It was an appointment with fate.
There, scientists had been preparing a ground-breaking study, hoping to test electrical stimulation for children with autism and this severe and dangerous behaviour. Ellie was a perfect candidate, says pediatric neurosurgeon Dr. George Ibrahim.
"We were desperate to provide an option for her. But in terms of how much it would provide a benefit, we really didn't know," he told CTV News in an exclusive interview.
DBS has been used for some two decades for depression and Parkinson's disease in adults and epilepsy in children. It uses a small electrical current to override the circuits or regions in the brain that doctors think aren't working properly
Having run out of options, her parents agreed she would be their first patient.
"She can't continue injuring herself all day long. What does it look like when .... she's so big that we can't hold her down?" said Lisa.
In December 2020 in the midst of the pandemic, a team of doctors led by Ibrahim drilled two small holes at the top of Ellie's skull and implanted two electrodes that went into the depth of her brain. They were then connected to wires under the skin of her neck to a round silver battery implanted on the upper right side of her chest.
That powers an electrical signal that flows through the wires into Ellie's brain.
"We can turn it up and if there's an unforeseen side effect, we can dial it down. So we control the amount of electricity for every child that's implanted with this technology," said Ibrahim.
After a short recovery from the procedure, doctors turned on Ellie's stimulator.
The results were immediate; the self-harming behaviors were gone. Video shows Ellie smiling, high-fiving her mother and happily watching TV.
"She was engaged ... and laughing and clapping," Lisa said. "We both cried. We both instantly cried. As soon as that device was turned on, she had emotion."
"It really amazed me," said Ibrahim. "I think the initial response that Ellie had was very encouraging."
Ibrahim and the team have also turned the device off to see what happens. The self-harm returned. And that has fueled their resolve to push the study forward.
"I thought this is something that could really offer children with no options some options," he added.
The device is also a window into Ellie's brain.
"We're also reading continuously the neuronal information from her brain," says neurologist Carolina Gorodetsky.
"It's definitely very clear that she's much happier after the device was turned on. And whether it's part of her personality that's coming back, that's a big question that's hard to answer," said Gorodetsky, adding the test isn't trying to change her autism but just stop her from injuring herself.
When CTV News visited the family's home, it's clear that Ellie now has agency over her world. She shoos away the cameraman filming her watching cartoons and walks into the living room to play with toys. Her mother is overjoyed.
"Before DBS she couldn't do that. She did not leave her room. She lied in her bed and all she did was hurt herself. She didn't go anywhere. She didn't do anything," Lisa said.
The changes in the 18 months since the procedure, have been "crazy" and "life-changing" say her parents.
Ellie responds to their requests and waits more patiently, instead of harming herself as she did before. And they haven't had to sedate her since the device was implanted.
"We have caregivers that aren’t quitting, right, because they're not getting harmed. School has noticed a huge difference," adds Lisa.
Doctors are now looking for five more children with severe self-harming behaviors to test brain simulation, as part of a clinical trial being watched by scientists the world over.
"Their job now is to actually establish both safety and effectiveness … to understand whether this is a viable long-term option," said Dr. Evdokia Anagnostou, an autism specialist at Holland Bloorview in Toronto, who was also consulted by SickKids scientists in the design of the trial.
Some parents may be reluctant to resort to brain surgery. But she says medications have their risks too.
"It's surgery and anesthesia and it feels scary to parents, but a lot of the medications we use for little efficacy sometimes have a lot of side effects. So if we had a procedure that was relatively safe and produced large effects, we would change how we see parents probably would change how they think about the potential benefit," says Anagnostou.
There have been no serious side effects for Ellie. The only big challenge is the battery. Doctors say Ellie needs higher doses of electrical stimulation to calm her behaviors. That drains the battery, which was designed to last two years for other medical uses, much faster. Ellie has had three small surgeries in the past year and a half to replace the batteries every six months. She goes for her fourth replacement in September.
It's a problem her parents want to solve because they believe Ellie's pioneering case will offer hope to other parents struggling with these hard-to-handle children.
"As scary as it is to drill into their brain and have this big piece hanging out of their chest," said Lisa, "it's worth it."
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