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July 1, 2022

'He couldn't open jars, couldn't turn a doorknob.' What was wrong?

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    A 69-year-old man had peripheral neuropathy, but for six years, doctors couldn't explain how or why he developed the condition—or how to treat it. Then, a special test confirmed the cause—a rare underlying condition with just 10,000 other cases in the world, Lisa Sanders writes for the New York Times Magazine.

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    Seeing 'a whole lineup of specialists'

    Six years ago, the man noticed that the feeling in his fingers started to disappear, followed by their strength.

    Eventually, his symptoms became so severe that he had to give up golf "after he nearly clobbered a friend; his club flew right out of his hands at the end of his stroke," Sanders writes. "Missed him by inches."

    At the time, there were many simple things the man could not do. "He couldn't open jars, couldn't turn a doorknob. His wife got him a special tool so he could button his own shirts. He had to wear slip-on shoes. He couldn't even cut up his own meat," Sanders notes. "He had always been independent, and each new loss felt devastating."

    A few years before he gave up golf, the man's doctor sent him to a neurologist who diagnosed him with carpal-tunnel syndrome and told him to rest and use splints to ease his symptoms—but it didn't help.

    It soon became clear that the problem was not isolated. "His feet began to burn, and then they, too, lost their ability to feel," Sanders writes. "Ultimately he felt as if he were walking on wooden blocks. Then his legs started to feel weak."

    After the man had seen "a whole lineup of specialists," almost every doctor agreed that he had a peripheral neuropathy—a loss of nerve function in his hands, feet, arms, and legs. "But why he had it, where it came from and how it could be stopped—those essentials continued to elude them," Sanders writes.

    'I know we are going to get to the bottom of this'

    Desperate for answers, the man reached out to the University of Pennsylvania Health System in Philadelphia and got a telehealth appointment with neurologist Mariam Saleeb.

    During the appointment, Saleeb listened as the man recounted his symptoms. "He could hardly walk, and he'd lost nearly 40 pounds over the past few years," Sanders writes. "He was only 69 but felt like an old man."

    When Saleeb asked the man to stand up and show her how he walked, she noticed his awkward gait, "his legs splayed far beyond the width of his hips, giving his movement a Frankenstein's-monster quality, and he couldn't lift the toes on his right foot, so it dragged as he walked," Sanders adds.

    Ultimately, Saleeb determined that she needed to do additional testing and asked the man to come for an in-person visit as soon as possible to identify the cause of his peripheral neuropathy.

    After conducting some tests, Saleeb still was not sure what the man had, but she knew he needed to see someone who was even more specialized. She referred him to a clinic that focused on neuromuscular disease.

    According to Sanders, Margaret Means was the first doctor to voice confidence that they could find a diagnosis. After her exam, she said, "You've really had a lot on your plate, but I know we are going to get to the bottom of this." 

    A few minutes after the exam, Means brought in another doctor named Chafic Karam. After asking the man a few more questions and conducting a short examination, Karam told him that they wanted to take a biopsy of the subcutaneous fat on his abdomen to see if he had a condition known as amyloidosis—a condition that interferes with the body's normal function and causes peripheral neuropathy.  

    Two weeks later, Karam called the patient and confirmed that he had a rare type of amyloidosis that is caused by a genetic abnormality—with just 10,000 other cases in the entire world.

    Stopping the deterioration

    While Karam told the patient there is a 50-50 chance that he had passed this abnormal gene on to his children, none of them have gotten tested, "and the patient is worried about what they might find," Sanders notes. 

    However, the patient is now taking two new medications that are designed to slow the progression of the disease, but they can't undo the damage that has already been done.

    On these drugs, the deterioration of the patient's physical abilities has stopped. "He can still walk, albeit slowly," Sanders writes.  He has also accepted the fact that he will never be able to play golf again. Still, "These days, somehow it's enough just to watch," Sanders adds. (Sanders, New York Times Magazine, 6/30)

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