'We just have to fight like Sophia is fighting': Family of 7-year-old with rare genetic disorder eagerly await 'life-changing' Canadian AI technology

Seven-year-old Sophia Chauhan is currently going through what her father Satchit calls an “involuntary movement storm.”

During a zoom call with Satchit and Sima Chauhan from a hospital room at Evelina London Children’s Hospital in England, Sophia is incessantly wriggling in her mother’s arms, as their younger daughter, four-year-old Savannah looks on.

While many children are prone to squirming, what makes Sophia’s behaviour different is that she isn’t able to stop or control her movements. What’s more is that sometimes the dystonia gets so intense that it can be self-harming.

Sophia has a rare genetic disorder called GNAO1, a neurological disorder that makes it so that she isn’t able to sit, stand, walk or communicate verbally. Hence, she requires round-the-clock care.

“The only way to stop the involuntary movement is by putting her to sleep, unfortunately,” Satchit tells Yahoo Canada. “So they have to give her sedatives.”

When Sophia was about six months old, Satchit says that while he and Sima didn’t really notice anything was amiss with her health or behaviour, Sima’s mother and sister commented that Sophia didn’t seem to be reaching certain milestones. “Her head control wasn’t great, and she wasn’t able to crawl or sit up,” says Satchit. “She also wasn’t making gaggle sounds like babies do.”

The couple made an appointment with Sophia’s pediatritian. “She had a range of nerve tests done. We had an MRI scan and it came back clear,” he says. By the time she was a year old, one of the last tests —a genetics test—was done. When Sophia was about 18 months, Satchit and Sima got the results. “They said she had a genetic issue called GNAO1. It’s a neurological gene that everybody carries, but in Sophia’s case the gene had mutated.”

GNAO1 is not only a rare brain disorder (only about 200 people in the world are said to be diagnosed with it), but it is also new in terms of discovery: it only came to light in 2013. Prior to that, the condition disguised itself under the cloud of cerebral palsy.

'Stuck on a treadmill that you can't get off'

The couple did their own research on what the neurological disorder was, and how it seemed to apply to Sophia. “Apart from not talking or walking, everything else seemed to be there,” Satchit tells me. “We feel cognitively she’s there. A lot of children that do possess GNAO1 do appear to have full cognitive function.”

Most genetic disorders don’t really become fully prevalent until the child gets older, so nothing really changed with Sophia’s behaviour or condition until she was 4.

“Then one day she just started moving and couldn’t stop,” Satchit recalls.

The couple took Sophie to the hospital where she was placed in intensive care and put into a semi-induced coma in order to stop the moving.

“It was described by one doctor as being stuck on a treadmill that you can’t get off,” Satchit explains. “When that happens the muscles break down. It can even release a chemical that requires dialysis because the kidneys can’t break it down. This can even lead to organ failure.”

Sophia stayed induced for about a week. After she was brought out of the coma, she was calmer. Satchit and Sima were referred to a specialist hospital in London where within four months she had a six-hour procedure to install a device called Deep Brain Stimulation (DBS).

“DBS involves implanting very fine wires with electrodes at the tips, into the brain by drilling two small holes into the top of the skull,” Satchit explains.

Canadian-American actor Michael J. Fox, for example, has had his Parkinson’s Disease treated with a similar brain drilling procedure.

“The wires go into the deep part of her brain and are connected to extensions underneath the skin behind the ear and go down to the neck and into her abdomen where there’s a pulse generator, [in other words] a battery.”

Sophia had a bit of a rough recovery, as it took a bit of time for Sophia’s brain to get accustomed to the volts within it.

But it was all well worth it.

“After the recovery, the device started kicking in,” Satchit says. “They removed the NG [nasogastric] tube and we started feeding her orally again.”

That’s when Sophia began to thrive. Within a year, all of her medication was stopped and she started attending school three times a week. “She was making tremendous progress at school,” Satchit says. “They were teaching her how to use a device called Eyegaze. It’s something that Stephen Hawking had. The device tracked her retina and she could move the cursor with her eyes to manipulate it so as to communicate. She was on the same curriculum as any other seven-year-old and they were teaching her to read and write using the Eyegaze.”

Canadian AI Technology offers life-changing possibilities

About a year ago, Sima’s sister Sheila was doing some research to see if she could find something that could help Sophia with her physical disabilities. She came across a social media article on a family who was looking to get an artificial intelligence machine founded by a Canadian company called Trexo, based out of Mississauga, Ont.

Sheila contacted the family and found out information on the device. “It helps with independence, mainly,” says Sima. “It will keep her in an upright position and encourage her to walk.”

This, in turn, can help improve her digestion and aid in preventing scoliosis. The device has artificial intelligence and will help to strengthen Sophia’s core and aid in the development of her joints. She’ll be able to build on things like head control.

Children like Sophia are in chairs mostly, Sima says. “Unless they’re physically supported by their parents and caregivers, they can’t get around. With a wheelchair, it helps with posture, but really, that’s just doing the bare minimum. It doesn’t allow you to enhance or build on any skills you have or encourage you. Like if you put Sophia in a standing position, she wants to initiate steps and things like that. The machine could be a whole new way of life.”

She will be able to interact with other children her age. In essence, it will allow Sophia to actively engage with life.

However, the technology costs $40,000 CAD.

But that hasn’t stopped the Chauhans. They started a GoFundMe page last year, and they hosted a fundraising gala in their hometown of Leicester this past March. Their story has appeared on a number of British news outlets such as ITV, and Sima’s brother and sister-in-law ran a marathon that was featured on BBC.com to help raise awareness for Sophia’s condition.

“We want to do anything that can help Sophia have somewhat of a normal life,” Sima says. “We want her to be able to reach her potential.”

Amazingly, the family has raised about £33,000 (approximately $57,000 CAD) so they have well surpassed the target fund they need to purchase the device.

“We’re ready to get it,” Sima says. “What they need to do is get measurements and have a Zoom call to see what Sophia’s exact needs are and they need to see what she’s like. In a more normal situation we would be taking her to Canada but we’re not able to travel at the moment and doctors say she isn’t able to go on an airplane because of the air pressure.”

Sima’s sister Sheila and her brother-in-law, Indy, may make the trip to get the full-on training and to collect the device in person (instead of having it delivered) because of health policies and red tape.

A setback for Sophia

After more than two years of being stable, Sophia has hit a bump in the road and is back at Evelina London Children’s Hospital.

The complication started with a virus that Sophia contracted in early March. The virus triggered involuntary aggressive movements.

“She’s being sedated every four hours while they make changes to her DBS device to control the movement,” says Satchit.

Right now, the neurologists say they’re looking for a baseline. “I presume that means they’re waiting for a period of calmness before they think about discharging her.”

“We’re a bit shocked that we’ve ended up back here,” Sima says. “The changes they’ve made to the device haven’t been that successful and now she’s been placed on a feeding tube which has made her movements and recovery worse. The reasoning is that they think they can manage her weight loss better with the tube. She’s also on an infusion at the moment to keep her asleep so that her leaked wound can heal.”

Sophia is independent — and despite her disability, she still finds a way to express her needs.

“You tend to pick up on her facial expressions in terms of her communication,” says Satchit. “We generally know that a smile often means a ‘yes.’”

Sophia is also extremely upbeat, he adds. “She greets you with a smile. She has a sense of humour. She likes slapstick comedy. She’s also very patient unless you really annoy her,” he says with a hint of humour in his tired eyes. “I think if she didn’t have these issues, she would be very calm and very kind.”

Both Satchit and Sima have taken a leave of absence from their jobs so that they can put their full focus on Sophia. “We’re just trying to keep our eye on the ball,” he adds. “Any time she breaks into dystonia or any meds that are given, we log it at the same time the doctors and nurses do because we can have different doctors ask us questions. Everything has to be specific so we make sure anything we say is accurate in that current state of time.”

Even though the situation is very challenging and stressful for the couple, Satchit says that feeling sorry for themselves isn’t going to help anything. “We just have to fight like how Sophia is fighting. Because ultimately, she’s the one who is going through this.”

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