by Allison Bond
…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…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.
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Context: Sarah Berini, M.D. is a Mayo Clinic neurologist. Dr.Berini treats autonomic neuropathy and peripheral neuropathy. Porphyria (por-FEAR-e-uh) refers to a group of disorders that result from a buildup of natural chemicals that produce porphyrin in your body. Porphyrins are essential for the function of hemoglobin — a protein in your red blood cells that links to porphyrin, binds iron, and carries oxygen to your organs and tissues. High levels of porphyrins can cause significant problems.
Contact: Susan Barber Lindquist