H

e was just 30, but Colin McEwen’s life had become a living nightmare. Debilitating spells of excruciating abdominal pain had begun landing him in the hospital a few times a month. Then came the weakness, the insomnia, the seizures, and the anxiety.

The pain, McEwen said, was “unholy, like someone is squeezing your intestines. It would take your breath away.”

Yet more devastating than the pain was the mystery. Doctors could offer no explanation for it — and physicians and loved ones began to wonder if McEwen’s symptoms were real at all. It would take eight years before McEwen finally got an answer.

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Mysterious symptoms gain momentum

Twenty years earlier, McEwen had been in a high-speed car accident that left him with chronic, but manageable, lower back pain. Seemingly randomly, in 2008, the pain intensified; then the belly symptoms began.

The unspeakable pain in McEwen’s abdomen waxed and waned. Sometimes he’d have only a few days between attacks; sometimes, respite lasted a month or more.

Blood tests and imaging scans were normal. Doctors near his home in Oklahoma attributed the pain to scar tissue — known as adhesions, or mesenteric fibrosis — pulling on nearby organs.

Yet pain was just one facet of the attacks. McEwen would also become dreadfully constipated and overcome by anxiety and nausea. He rapidly lost 20 pounds, his 6-foot frame down to a skeletal 120. He started having seizures. And he struggled with insomnia, sometimes showering 10 times a night to calm down enough to drift off to sleep.

After a few years of bouncing in and out of the hospital with the symptoms, McEwen’s pain doctor in 2009 suggested he see a urologist. The theory was that the pain might be from pelvic muscle spasms pulling on the scar tissue in his belly; in that scenario, an electrical implant might help. But the device, which cost him $30,000 out of pocket, did more harm than good, and it was removed in 2011.

“I try really hard not to villainize any of the doctors I saw,” McEwen said. “I really do believe they tried to build their evidence to explain what was going on. But that was probably one of the weirdest jaunts.”

By 2013, McEwen’s back and abdominal pain were nearly constant, even with pain medicines. And his mind seemed to be spinning out of control.

“There were about two weeks where I went completely out of my mind,” said McEwen. “I was not sleeping at all. My wife kept saying there was something really wrong with me.”

Doctors blamed these symptoms on a combination of sleep deprivation and benzodiazepine — so-called tranquilizer pills. He was discharged home.

A few days later, McEwen disappeared from his home for four hours; his wife searched for him frantically and found him at an urgent care center seeking help for knee and shoulder pain. (McEwen has no recollection of that day.) His medicine bottle, full of benzodiazepine pills that morning, was empty.

That’s when his family staged an intervention. His mood changes stemmed from an addiction to anti-anxiety and pain pills, they told him. They shipped him off to a rehabilitation center.

‘You get to the point where you can’t trust your brain’

After a few days at rehab, McEwen began to think more clearly, yet he was still wracked with pain. Rehab center staff chalked it up to delayed opioid withdrawal or, later, told him the pain was “all in his head.”

“You get to the point where you can’t trust your brain, and that’s really scary,” McEwen said. “It’s really maddening.”

To ease the transition from pain pills, doctors started him on buprenorphine, a medicine often used long-term to treat opioid use disorder, but intended as a short-term solution for McEwen. With his pain at bay, McEwen was able to return to work in communications for nonprofit organizations. But then his buprenorphine prescription ran out.

Without anything to treat his pain, McEwen said, he drank alcohol to dull the pain and quell the insomnia.

“I would wake up in the middle of the night and pound a few beers just to be able to fall back to sleep,” McEwen said.

He also started having tremors and grew incredibly weak, soon too debilitated to feed himself, use the toilet, or walk.

“My arms were just tubes of flesh dangling at my side,” McEwen said.

In April 2014, McEwen saw a neurologist, who diagnosed him with a nerve disorder called chronic inflammatory demyelinating polyneuropathy, or CIDP. It’s an autoimmune disease that strips away the body’s protective nerve sheath, causing weakness. Therapy with infusions of a mix of antibodies – known as intravenous immunoglobulin, or IVIG — can help. For a time, the medicine improved McEwen’s strength enough to allow him to return to work.

The following October, however, his weakness rapidly worsened, ultimately costing McEwen his job. And by then, the turmoil and stress of the last seven years had taken a serious toll on his marriage.

“At this point, my marriage was barely there,” McEwen said. “I was a hot mess.”

Soon after, his other symptoms came roaring back, too, from the belly and back pain to the confusion and anxiety. When he again landed in the hospital, his blood pressures swung wildly, the top number sometimes higher than 200. When McEwen’s vocal cords and breathing muscles became extremely weak, doctors weren’t sure he’d survive.

“Most of what I remember [from that episode] was horrible nightmarish hallucinations,” McEwen said. “It’s almost like I was in the upside-down and my wife and nurse were in real life. It’s pretty terrifying to wake up in those circumstances.”

“Most of what I remember was horrible nightmarish hallucinations. It’s almost like I was in the upside-down and my wife and nurse were in real life.”

Colin McEwen

He stabilized, though, and eventually was discharged to a physical rehabilitation facility to regain some strength. It was there that the IVIG treatments led his white blood cells — vital for fighting infection — to plummet. For this new problem, he was seen by Dr. Sanjaykumar Hapani, a blood disorder specialist. The physician felt something was amiss; McEwen’s symptoms did not fit with CIDP. And that nerve disorder didn’t explain his abdominal pain, insomnia, and constipation.

“Things were not adding up,” Hapani said. “I felt something was not right about his diagnosis.”

So Hapani suggested McEwen seek a second opinion at the Mayo Clinic in Rochester, Minn.

Mystery solved, but damage done

McEwen took his advice and booked an appointment at Mayo with neurologist Dr. Sarah Berini. When she saw him in clinic, her first impression was how debilitated McEwen had become. He was incredibly thin and very weak, unable to move his arms at all.

“He was very young and very, very sick,” said Berini. “I was worried about him.”

Berini, too, felt McEwen’s symptoms didn’t jibe with his prior diagnosis. For one thing, the nerve problem with which he’d been diagnosed isn’t painful. And, unusual for CIDP, his weakness most involved the forearm’s radial nerve, and was worse in one arm than the other. Finally, a spinal tap didn’t reveal the high protein levels typically seen in this nerve disease.

So Berini got to work, starting from scratch and performing imaging tests and another spinal tap, along with studies of McEwen’s urine, blood, and nerves. A colleague of hers had once mentioned a patient who suffered from a disease known as porphyria, a disorder stemming from the body’s mishandling or overproduction of porphyrins, the building blocks of red blood cells. She thought McEwen’s symptoms might fit that diagnosis. It was a long shot, she mused, but she ordered the test anyway.

She was right.

McEwen’s tests revealed sky-high levels of porphyrins in the urine. That pointed to a diagnosis of porphyria, and a DNA test confirmed it.

Some types of porphyria are genetic; others develop later in life. A few mostly affect the skin, whereas others — such as acute intermittent porphyria, from which McEwen suffers — stem from an enzyme problem in the liver.

The buildup of porphyrins in the body affects roughly 5 to 10 in 100,000 people worldwide and can lead to widespread nerve damage, causing nearly all of the problems that had plagued McEwen for nearly a decade.

“Looking at the symptoms of porphyria was like reading my life story,” McEwen said.

Having a diagnosis that explained his symptoms — and provided proof that they were real — “was like waking up on Christmas day, coming down the stairs, and seeing every present you’ve ever wanted down there,” he said.

“[Getting a diagnosis] was like waking up on Christmas day, coming down the stairs, and seeing every present you’ve ever wanted down there.”

Colin McEwen

There’s no cure for porphyria, other than a liver transplant in certain cases. But Berini and McEwen worked together to keep his symptoms at bay; a diet high in sugar and a drug called hematin would be key to prevent attacks. (It turned out that sugar was likely the reason the IVIG treatments had improved his symptoms; the medicine was mixed in sugar water.)

Putting together the puzzle of McEwen’s diagnosis was incredibly gratifying, Berini said.

“It’s very rewarding to see somebody who is that ill and feel like you have helped them find a new way forward,” Berini said. “It makes you very hopeful.”

Although McEwen’s attacks are less frequent, much of the nerve damage is irreversible. Yet he’s moving forward and has kept his sense of humor, naming his carpentry business “dEAD HANDS” (with the first ‘d’ lowercase) in homage to the trouble he still has with weakness. His marriage is back on track, and about six months ago, the McEwens became foster parents.

To people searching for a diagnosis, McEwen emphasizes the importance of perseverance, and of listening to your body.

“If you are undiagnosed and suffering, you have to trust that you are feeling that way for a reason,” he said.

Allison Bond is a hospitalist at Massachusetts General Hospital. If you have dealt with a diagnostic puzzle that has been solved, either as a caregiver or a patient, please email Allison at allisonbondmd@gmail.com.

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  • Isn’t porphyria the disease from which British King George III suffered & possibly Mary Queen of Scots did too? But in McEwen’s case, there was no blue urine?

  • I would add: “and get yourself to a major, respected medical center like Mayo.” My young cousin, a preschooler, went through three years of hospitalizations, invasive tests and procedures, pain, and distress before his parents brought him to Mayo. He was diagnosed within days with a rare spinal disease and was treated within a month. He is in school now, and life is much, much better!

  • Thank you for this story. What a horrific experience this man has gone through. Close to death, losing his sanity, facing divorce, losing his job.

    Here’s what would help me get the complete picture: what health insurance covered all these events? How did he continue to be insured after losing his job? Please give us some more information on this.

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