The Times article, by Mike Pattenden, 16 August 2016: How a teen diagnosed her own rare illness
Should you google your symptoms? This 13-year-old did, and it helped to save her life
Have you had a niggling pain bothering you for a while? Whatever you do, don’t google your symptoms, it can be fatal — metaphorically speaking. That persistent headache isn’t cancer, it’s too much caffeine, and you have a stiff neck because you slept in an odd position, not because you have meningitis. Whatever dire diagnosis your search turns up, it’s probably best ignored.
Unless, of course, you happen to discover that you are suffering from a super-rare condition with which only a handful of people in the country have been diagnosed. This is what happened to Amelia Ferguson. Two years ago the 13-year-old started feeling dizzy and experiencing cold hands and feet, stomach pains and shooting pains in her legs. Her parents first put it down to exam stress but within weeks their daughter’s symptoms had escalated to include joint and bone pain, nausea, reflux and constipation. Her weight was plummeting, she was virtually unable to walk and weak as a kitten.
While all tests for serious illness came back negative, her parents, Kyrste and David, were alarmed at her deterioration and sought answers from private practitioners, including a neurologist, an acupuncturist, two homeopaths and a chiropractor.
“We were begging for her to be taken seriously,” says Kyrste. “She was disappearing before our eyes and it was heartbreaking.”
Amelia was admitted to Queen Mary’s Hospital for Children in Carshalton, Surrey, which diagnosed chronic fatigue syndrome and put her on a drip. By the summer of 2014 she was almost completely bed-ridden. At her lowest she was unable to swallow.
“I was no longer able to live my life properly so I’d spend seven or eight hours lying there searching for a cure,” she says, speaking from the family home in Esher. “I didn’t feel like I was getting the right treatment. Painkillers weren’t working and nor was the treatment so I went down another pathway that would help me get my life back. I had lots of symptoms that I could see just didn’t fit with chronic fatigue syndrome. I knew that it was something else.”
“We wanted to believe it was chronic fatigue. Half a dozen specialists were in agreement,” says David, a financial adviser. “They kept saying, ‘We’ve seen this before, trust us, stop worrying.’ We wanted to believe it, but she was fading before our eyes and we were racking our brains for a solution.”
While her parents racked their brains, Amelia took to her iPad. Instead of watching teen vloggers or cat virals, though, she began sifting through medical research. Her father had conducted some postgraduate research in clinical science and gave her some tips but he was too busy at work to put in the necessary hours of painstaking research himself.
In December Amelia found a medical paper about a 13-year-old girl in Australia who presented with the same symptoms and the same chronology — the Australian girl’s symptoms began shortly after she had received the HPV (cervical cancer) vaccine, just as Amelia’s had. It suggested that Amelia might have pandysautonomia, a rare autoimmune autonomic neuropathy.
Amelia wrote a 1,700 word summation of her clinical history, attached the medical paper and her conclusions with it, and sent it to Professor Russell C Dale, a paediatric neurologist at the University of Sydney. He referred her to Dr Ming Lim at the Evelina London Children’s Hospital, part of Guy’s and St Thomas’, who rushed her in for tests and came to the same conclusion. “Her condition was life-threatening and it was clear she needed urgent care,” Lim tells me. He put Amelia on a course of immunotherapy using steroids and immunoglobulins.
If Lim had any doubts that Amelia was responsible for her prognosis, he was soon disabused when he got to know her. “I’ve never heard of a child diagnosing themselves like this, not just that but to show the initiative to contact the author of the specific medical paper with a detailed summation of her condition is incredible.
“Combing through the medical literature, sifting through the useful information and understanding the language was a huge leap for someone her age. She wants to write a medical paper about pandysautonomia and I’d say, having treated her for so long, she’s more than capable.”
So was it a miracle that a 13-year-old was able to successfully diagnose a condition so rare that it affects approximately one in ten million people? Online self-diagnosis has widespread disapproval within the medical establishment, yet there seems little doubt that those of Amelia’s generation will increasingly rely on internet resources for medical information (between 1 and 5 per cent of searches are medically directed).
None of which stops doctors googling merrily away themselves.
“We do google, absolutely,” admits Lim. “When Amelia contacted me the first thing I did was google her condition and conduct a search of the latest medical papers. On the TV programme GPs: Behind Closed Doors, you can see them doing it all the time.”
Maybe the best person to turn to for advice is Amelia, who is now 15. She’s currently in remission, though still weak from the ravages of pandysautonomia and the side-effects of the drugs, so she can’t yet be fully discharged from the Evelina. She intends to embark on a career in medicine but just wants to get back to playing sport regularly first.
“I think you have to trust doctors to some degree but if you have been in their care for some time and you have a gut feeling that something is not right you should take matters into your own hands and try to find the answer,” she says.
“But when you start googling you have to take everything with a pinch of salt. There are some very useful sites out there but some people, no offence, write a lot of nonsense. You have to be sure who’s writing knows what they’re talking about.”
Next time you type “lump” into Google, try to remember that.