Canada man spent 32 years searching for answers. When his daughter developed similar symptoms, one Google search changed everything

The 32-year-old Ian Stedman was totally shocked when he randomly searched his symptoms online on Google and discovered a rare disease. He spent these years without a diagnosis but a simple Google search changed his life. The diagnosis not only helped him get treatment but also meant his daughter could receive care much earlier. Almost ten years later, Ian Stedman believes artificial intelligence could help other patients avoid the long and difficult diagnostic journey he experienced.

“I think [artificial intelligence] has potential to completely transform the health-care system,” Stedman told White Coat, Black Art host Dr. Brian Goldman, reports CBC News. “I don't know if it's for better or for worse yet, but I do think it's a real important conversation for us to have about how to regulate it and how to make sure that what people are finding online is helpful instead of harmful.”

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Ian Stedman spent 32 years without a diagnosis

Stedman, 43, of Woodbridge, Ont., grew up with a range of unexplained symptoms, including a skin rash, red eyes, migraines, arthritis and eventually partial hearing loss. He visited nearly dozens of doctors with over nearly 200 appointments, but none was able to identify what was causing his symptoms. This affected his education, work and everyday life and he also avoided wearing short sleeves because of his rash and eventually learned to live with the symptoms.

Everything changed after his daughter, Lia, began experiencing similar problems. And it was then, when Stedman decided to search online. He spent hours looking through thousands of images and eventually found photographs of skin symptoms that looked similar to his own.

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The condition was Muckle-Wells syndrome, a rare disease. His diagnosis was later confirmed by Dr. Ronald Laxer, a pediatric rheumatologist at Toronto's Hospital for Sick Children. Both the father and daughter received medication every two months to keep their symptoms under control.

“Ten years later, it's not as easy for me to just rhyme them all off.... I have to actually sit and think because I'm so far removed from having to experience them,” Stedman said.

AI could help detect rare diseases earlier

Stedman's experience is part of the reason he now advocates for better ways to identify rare diseases. He joined the board of the Canadian Organization for Rare Disorders after his diagnosis and has pushed for patients to receive answers sooner. One program already attempting to do that is ThinkRare at CHEO, the Children's Hospital of Eastern Ontario in Ottawa.

Researchers have developed an AI algorithm that examines information in children's electronic health records and looks for patterns that could indicate an undiagnosed rare genetic disease. The system focuses on children who have been treated by multiple departments and have symptoms affecting several parts of the body.

When a potential case is identified, the system alerts researchers, who then contact the child's primary physician. So far, the program has flagged around 250 children who could have a rare genetic disease. About 50 have been referred for genetic assessment, while 19 children have been tested. Researchers have identified genetic diseases in seven patients, who are now receiving treatment.

“The ultimate goal was to use AI to bring the diagnostic genetic testing to the front of the care pathway and not at the back,” said Dr. Kym Boycott, a professor of pediatrics at the University of Ottawa and clinician scientist at the CHEO Research Institute.

“It's about catching kids early, not catching kids that we've missed.” The ThinkRare team says the goal is not simply to develop another commercial medical technology. Alexandre White-Brown, a research co-ordinator with the project, said the team has been speaking with organizations across Canada about using similar technology.

“Our goal isn't to make money off this or to sell this or to patent this. Our goal is really to share this to allow for rare disease diagnoses across Canada,” he said.

“This can change people's lives. It can save lives.”

Experts warn AI in health care needs safeguards

AI is increasingly being used in medicine, from transcribing patient conversations to helping identify patients at risk of serious complications. But experts said that the technology also raises questions about privacy, transparency and commercial influence.

Dr. Sheryl Spithoff, a scientist at the Women's College Research Institute and assistant professor at the University of Toronto, has studied how AI programs used in Canadian health care are funded. She said some systems are developed with pharmaceutical industry involvement and can be designed to identify patients who may be candidates for particular treatments.

Spithoff said transparency over funding is therefore important, along with greater public involvement and strong protections for patient data.

Stedman agrees that safeguards are necessary. “I don't have misgivings about the technology's potential. I have misgivings and worry that we are going to allow the technology and its creators to do what they want without the right safeguards in place,” he said.