Rare Disease Report

Meet Colin; Porphyria Patient - NOT an ALS Patient, Hypochondriac, Pill Seeker, or Addict

APRIL 23, 2017
Mathew Shanley
Colin McEwan was in a high-speed automotive accident when he was 10 years old.

Since then, he’s been accused of being a hypochondriac and a pill-seeker. Doctors told him that he was the victim of long-term effects of the crash. He’s been in and out of rehab, and even his own wife had, at one point, staged an intervention.

All because none of his doctors knew to diagnose him with porphyria.

Porphyria is a rare hereditary disease in which the blood pigment hemoglobin is uncharacteristically metabolized. Porphyrins are expelled in the urine, which becomes dark – typically dark red or brown, and other symptoms include mental disturbances and extreme sensitivity of the skin to light. Unfortunately, those symptoms were not paramount with Colin. Instead, his symptoms were more focused on GI and neurological problems.

Abdominal pain begins

“[The abdominal and head problems I experienced] kind of clouded my diagnosis, because when the symptoms really came on, doctors just thought they were lasting effects from the car wreck,” McEwan said. “My first real porphyria symptoms came in 2008; I was 30 years old and newly engaged. I had severe abdominal pain. It was a pain that was indescribable. Like swords of fire.”

After years of experiencing discomfort and name-calling, it all came to a head for McEwan in 2013. He describes it as an episode of delirium. He was awake for two weeks.

"It felt like I was on fire – Like I was being stabbed"

“[My family and doctors] staged intervention, believe it or not. Then I went to outpatient’s rehab clinic for about two months. I finally came back to normal after the delirium, which pointed everything to just a drug problem, but while I was in rehab, the pain was just excruciating. It wasn’t just the abs now, though. It was in my knees and arms. It felt like I was on fire – Like I was being stabbed.”

McEwan wasn’t allowed to take common medications like Tylenol or Advil, because doctors didn’t want him to get used to the notion that a pill will relieve him of his pain. His tremors were blamed on medication withdrawals. Tremors turned to weakness. Weakness turned to paralysis.

By April 2014, McEwan was completely paralyzed in both arms.

After visiting with an array of specialists, McEwan heard terms like “ALS” and “autoimmune disorders.” Once he began to progress after treatment, he was relieved to learn that ALS was out of the question. After months of improvements and relapses, by the summer of 2015, he had regained almost all capabilities that he had initially lost, when tragedy struck shortly thereafter: all the symptoms he had experienced over the course of the previous 6 years hit him at once.

Abdominal pain. Delirium. Paralysis. All of it.

McEwan doesn’t remember the first two weeks of that particular hospital stay. He was ordered to be put in restraints because of the spastic motions he experienced in his sleep. When he awoke, he was completely paralyzed in his legs and arms, and parts of his chest and face.

Despite it all, he was still accused of faking. All the tests run had come back normal. His pain wasn’t treated. He wasn’t provided with medication. He was stabilized in the hospital and transferred to another rehabilitation center.

It wasn’t until after his white blood cell count plummeted and a hematologist was brought to his room that he received some hope. To his wife’s credit, she never left his side.

Taking matters into his own hands 

McEwan began seeking second opinions, and started a GoFundMe account to fund a trip to the Mayo Clinic, where the staff started from scratch. After 10 days of tests, he was diagnosed with porphyria.

McEwan is now dealing with his condition and now knows better how to treat his episodes. Every 3-6 weeks, he goes in for additional treatments to stay on the safe side.

“For me, stress is the biggest trigger,” says McEwan. “There were so many things being done wrong out of ignorance, and it did exacerbate my situation. I think that, the picture is made cloudier when being so uneducated about what’s wrong with your body is a snowball effect [as it pertains] to stress.”

National Porphyria Awareness Week runs from April 22 - 29, 2017. People are encouraged to share their knowledge about the disease, assist others in understanding, tell their stories to news outlets, volunteer, and honor loved ones who have experienced cases of the disease. Porphyria patients can visit the Alnylam website for an array of resources.

About Porphyria

Porphyria refers to a group of disorders that result from a buildup of natural chemicals that produce porphyrin in your body. Porphyrins are vital for the role of hemoglobin — a protein in your red blood cells that links to porphyrin, binds iron, and carries oxygen to your organs and tissue. High levels of porphyrins can cause significant problems.

Treatment of the disease depends on the type of porphyria. Although porphyria usually can't be cured, certain lifestyle changes may assist in managing it.

Panhematin is used to treat acute intermittent prophyria and other drugs are in development.  

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