In the Loop

News and views from across Mayo Clinic

December 12, 2017

Troubling Medical Mystery Solved After Years of Painful Symptoms

By In the Loop

By the time he came to Mayo Clinic, Colin McEwen had spent 20 years living with intense and nearly constant abdominal pain, weakness, insomnia, seizures and mounting anxiety that kept him in and out of hospitals. Fortunately, that all began to change with the help of neurologist Sarah Berini, M.D.

Before coming to Mayo Clinic, Colin McEwen spent years living with intense pain, and without a diagnosis. That began to change with the help of neurologist Sarah Berini, M.D.

Colin McEwen was living a medical nightmare. Just 30 years old, he was suffering with "debilitating spells of excruciating abdominal pain," weakness, insomnia, seizures and mounting anxiety that sent him to the hospital several times each month, according to a recent article in Stat.

The worst part? Nobody could tell him why. Blood tests and imaging scans came back normal. "Doctors could offer no explanation for it — and physicians and loved ones began to wonder if McEwen's symptoms were real at all," reporter Allison Bond writes. It would take eight years, and a trip to Mayo Clinic, before Colin "finally got an answer."

By the time he came to Mayo Clinic's Rochester campus, Colin was a shell of himself physically and emotionally, Bond reports. A neurologist had diagnosed him with a nerve disorder called chronic inflammatory demyelinating polyneuropathy, an autoimmune disease that strips away the body's protective nerve sheath, causing weakness. But despite treatment, his symptoms persisted.

At Mayo, Colin came under the care of neurologist Sarah Berini, M.D., who Bond writes felt that Colin's symptoms "didn't jibe with his prior diagnosis." So Dr. Berini decided to take another look at Colin's diagnosis. She performed her own imaging tests and took another look at Colin's urine, blood and nerves. Along the way, a colleague made her aware of another patient with similar symptoms who was ultimately diagnosed with porphyria, "a disorder stemming from the body's mishandling or overproduction of porphyrins, the building blocks of red blood cells." Dr. Berini, Bond writes, thought Colin's symptoms might also fit that diagnosis. Though it seemed like "a long shot," Dr. Berini ordered a test to check Colin's porphyria levels, and as Bond writes, the test results showed "she was right."

When a DNA test confirmed the diagnosis, Colin says his years of symptoms started to finally make sense. "Looking at the symptoms of porphyria was like reading my life story," he tells Stat, adding that finally having a diagnosis "was like waking up on Christmas day, coming down the stairs, and seeing every present you've ever wanted down there."

While there's no cure for porphyria Dr. Berini and Colin have worked together "to keep his symptoms at bay" through diet and medication to help prevent future attacks. That means a great deal to Colin — and to Dr. Berini. "It's very rewarding to see somebody who is that ill and feel like you have helped them find a new way forward," she tells Stat. "It makes you very hopeful."

You can read the rest of Colin's story here. Then give us something to be hopeful about by sharing your comments below before using the social media tools atop this page to share this story with others.



Tags: Department of Neurology, Dr. Sarah Berini, Patient Stories, porphyria

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