Man googles rash, discovers he has one-in-a-million rare disease
This story originally aired Sept. 24, 2016
Ian Stedman grew up knowing there was something wrong with him, but no one could figure out what. He suffered from a skin rash, red eyes, migraines, arthritis and eventually, hearing loss.
After seeing dozens of doctors, he gave up on getting a diagnosis, and did his best to live with the symptoms, althought it often meant missing school and work because of debilitating migraines and other ailments.
"I've had to be accommodated by my employers my whole life, every single job I can think of...As a practicing lawyer, I had people coming in to meet me where I've been been unable to take that appointment. Those are the moments where you think, 'This is a career-limiting issue,'" he tells Dr. Brian Goldman on White Coat, Black Art.
His persistent rash meant he never wore short sleeves and always wore long pants outside.
"Sooner or later I'd be covered in spots...The spots look like you have something severe wrong with you. For me 'cover up' is easier than explaining," Ian says.
His daughter Lia was born. Soon, she began to exhibit the same mysterious symptoms that plagued her father.
"It was blatantly patently obvious to anyone who saw it, it was the same thing," he says.
At one point, she stopped walking and regressed to crawling due to joint pain. For the sake of his daughter, Ian started looking for answers again.
He scoured medical journals and went back to his family doctor.
He was referred to eye, skin and joint specialists, and an allergist. None had an answer. Frustrated, Ian Stedman turned to the Internet.
I started searching for pictures of peoples' rashes.You're throwing everything at the wall to see what sticks. You're looking everywhere to figure out what you're supposed to be looking for.- Ian Stedman, who diagnosed his own rare disease, using Google.
After looking at thousands of online photos of strange skin disorders, Ian found one that looked familiar on a rare disease website.
"I saw my skin," he says.
The rash was related to an obscure genetic disease called Muckle-Wells syndrome that is passed from parent to child. The odds of getting the disease are one-in-a-million.
Stedman tracked down Dr. Ronald Laxer, a pediatric rheumatologist at SickKids, The Hospital for Sick Children in Toronto. Laxer, a world authority on rare diseases, confirmed the diagnosis, but was awe-struck that Ian had diagnosed himself with the help of Google.
"We talk about 'Dr. Google' all the time in medicine. Usually we find all kinds of things, but we don't land on the correct diagnosis," Dr. Laxer says.
I've been in practice for 35 years, I've never had a story like this.I don't think I've ever had anyone come in with a rare disease and say, 'Doctor, this is what I have,' when he had seen probably 30 or 40 physicians.- Dr. Ronald Laxer, SickKids
Following the diagnosis, Ian and Lia began getting injections of a drug called Illaris, which Ian says 'stops the symptoms cold.'
Like many treatments for rare diseases, it's expensive. The drug costs more than $100,000 per year for each of them.
With Dr. Laxer's help, the family fought their insurance company for coverage. Still, Ian lives in fear that if he loses his benefits, Lia may have to face what he did.
Both Ian Stedman and Dr. Laxer believe that there should be a registry for Muckle-Wells and the 7,000 other rare diseases that affect 3-million Canadians. There, patients could find information and support, and doctors would have a place to turn to when tests come up empty.
In the meantime, Ian says medical professionals shouldn't dismiss patients who look for answers outside the doctor's office - even if they resort to "Dr. Google."
"Whenever I hear a doctor or nurse complain about someone coming in trying to diagnose themselves, it boils my blood. Because I think, I don't know if I'd be dead if I didn't diagnose myself. You can't expect one person to know it all, so I think you have to empower the patient."