Man Googles rash, discovers he has one-in-a-million rare disease
Originally published on Sept. 23, 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 eventual hearing loss.
After seeing dozens of doctors, he gradually accepted the fact that he was never going to get a diagnosis. He did his best to live with the symptoms, missing school and then 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 this week's White Coat, Black Art.
His 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 knew he had to solve his medical mystery.
He started looking at medical journals and went back to his family doctor.
He was referred to eye, skin and joint specialists and an allergist. No one had an answer. Frustrated, he 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."
It was 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 the Hospital for Sick Children in Toronto and a world authority on rare diseases like Muckle-Wells syndrome.
He confirmed the diagnosis.
Dr. Laxer couldn't believe that Stedman self-diagnosed his rare condition by 'Googling' his rash.
"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
Lia and her dad Ian have been getting injections of a drug called Illaris for close to two years.
The medication stops the symptoms cold, but at a huge cost -- more than $100 thousand dollars a year for each of them.
They had to jump through hoops to get coverage, and Ian lives in fear that if he loses 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. They say it would give patients information and support - and give doctors a place to turn to when their tests come up empty and they run out of ideas.
In the meantime, Ian Stedman says medical professionals shouldn't dismiss patients who go looking 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."
