Over six years, many doctors told the patient he had peripheral neuropathy. What they couldn’t tell him was why — or how to treat it.
It was in spring that the 69-year-old man missed playing golf the most. How he loved the cool South Carolina mornings, the feel of the club in his hands, his arms and his body moving in that perfect arc. But even before he had to stop, he noticed changes. The sensation in his fingers slowly disappeared, then their strength. He gave up the game after he nearly clobbered a friend; his club flew right out of his hands at the end of his stroke. Missed him by inches.
There was so much he couldn’t 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. He had always been independent, and each new loss felt devastating.
He told his doctor about it a few years before he had to give up the game. She was concerned and sent him to a neurologist. The specialist diagnosed him with carpal-tunnel syndrome. She explained that the nerve that brings sensation from his fingers to his brain was getting squeezed as it traveled through the bony passage in his wrist called the carpal tunnel. It was an overuse injury, and rest and the use of splints usually helped. Not this time. And soon it became clear that it wasn’t just his hands. His feet began to burn, and then they, too, lost their ability to feel. Ultimately he felt as if he were walking on wooden blocks. Then his legs started to feel weak.
Show Me How You Walk
As he got worse, he saw a whole lineup of specialists. More neurologists and rheumatologists — and because he had cancer 20 years earlier and radiation therapy to his neck and chest to treat it, he saw a couple of oncologists. Virtually everyone could tell him what he had: a peripheral neuropathy, a loss of nerve function in his hands and feet and, more recently, his arms and legs. But why he had it, where it came from and how it could be stopped — those essentials continued to elude them.
He had tests on his blood, his urine, his nerves. After six years, he knew that there were dozens of terrible diseases he did not have. It wasn’t diabetes, H.I.V., Lyme disease or hepatitis. His thyroid was shut down by the radiation treatment that he had for his cancer, but he took thyroid hormone every day. His level was always perfect. His vitamin levels were fine.
Most recently a rheumatologist tested him for every autoimmune disease he could think of, and when none of the tests were revealing, still tried a course of high-dose prednisone. If it was his immune system going wrong, then suppressing that system, which is what prednisone does, would help. When it didn’t, the doctor told him he didn’t know what more he could do. What the patient needed, at this point, were specialists at an academic medical center. They saw a wider range of disease and kept up with the newest research. He suggested a rheumatology group at the Medical University of South Carolina in Charleston, a couple of hours south. The man called them immediately but couldn’t get an appointment for months. And by then, he and his wife would be in coastal New Jersey, where they spent every summer with their grown children.
Instead, he reached out to the University of Pennsylvania Health System in Philadelphia. It was just an hour away from their beach house, and he got a pacemaker there a few years earlier. A single call got him a telehealth appointment with a Penn neurologist the following week, from his home in North Myrtle Beach, S.C.
After the patient signed on for his video visit, Dr. Mariam Saleeb listened carefully as he recounted the activities he can no longer pursue and his worsening weakness and disability. He could hardly walk, and he’d lost nearly 40 pounds over the past few years. He was only 69 but felt like an old man. Saleeb asked him to get up and show her how he walked. He leaned forward and used his arms to push himself to an upright position.
Even on the video, Saleeb could see that the patient’s hands were almost skeletal, as if the fat and muscle had simply melted away. His arms were also much thinner than she would expect from his build. His walk was awkward, 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. She needed to do some additional testing. When could he come to her office? Soon, he told her. They were traveling north in six weeks.
When she finally saw the patient, Saleeb noted that the man was even thinner than he looked on the video visit. And he had almost no feeling in his legs. When she pricked him with the point of a safety pin, he didn’t even blink until she got above the knees. His hands were almost as bad. And he was right — he was very weak. She tested the nerves in his arms and legs by shooting tiny pulses of electricity to one nerve and measuring the strength of the signal and how long it took to get from one point to another. There was almost no signal getting from his lower legs to his feet, and just a trace from his hands to his arms.
There are hundreds of possible causes of peripheral neuropathy. Diabetes is probably the most common. Alcohol abuse can do it. So can too little vitamin B12 or too much vitamin B6. Several drugs can cause this kind of neuropathy, as well as some toxins. Autoimmune diseases and inherited diseases can too.
Most peripheral neuropathies affect sensation first. He had what was called a stocking-and-glove neuropathy: one that starts in the feet and moves upward to the hands and keeps going. Most of the time, the feet and hands burn and sting as if they were being stuck with pins and needles, and then slowly, usually over years, sensation dies. But this kind of rapidly progressive and profound sensory loss combined with weakness was a red flag. Saleeb wasn’t sure what he had, but she was certain that he needed to see someone even more specialized and referred him to the clinic that focused on neuromuscular disease.
Credit…Photo illustration by Ina Jang
A Special Test
Dr. Margaret Means was the first doctor to express confidence that a diagnosis could be found. 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.” Then she disappeared. Ten minutes later she returned with a tall man dressed in scrubs whom she introduced as Dr. Chafic Karam.
Karam asked a few questions and reviewed the records the patient had brought. After a brief examination, he told the patient that they would send him to the lab for more blood work, but first they wanted to take a biopsy of the subcutaneous fat on his abdomen to look for a condition known as amyloidosis. In this disorder, the liver creates abnormal proteins that form fibers that circulate throughout the body, invading organs and nerves and even the fat and skin. These fibers interfere with the body’s normal function just by being there. They are one cause of peripheral neuropathy.
Two weeks later Karam called with the results. What he had, Karam explained, was very rare, with maybe 10,000 cases in the entire world. It was a type of amyloidosis caused by a genetic abnormality that he inherited from one of his parents. And this abnormality was the cause of many of his medical problems. It was why he needed a pacemaker — because the fibers had interfered with his heart’s ability to regulate its rhythm. It was why he was losing weight. His digestive system had trouble absorbing the nutrients he ate. And it was certainly why he had this debilitating neuropathy. The patient thought about his parents, both dead for many years. Both had many health problems, but he had no idea which one might have had this amyloidosis.
His children were at risk, Karam told him: There was a 50-50 chance that he had passed this abnormal gene on to them. None of his children have yet gotten tested, and the patient is worried about what they might find. Still, there are new medications that can slow this process, though they can’t repair the damage already done. The patient is now on two of these drugs, and the deterioration of his physical abilities has stopped. He can still walk, albeit slowly. And he has accepted the fact that he will never play golf again. These days, somehow it’s enough just to watch.
Lisa Sanders, M.D., is a contributing writer for the magazine. Her latest book is “Diagnosis: Solving the Most Baffling Medical Mysteries.” If you have a solved case to share, write her at Lisa.Sandersmdnyt@gmail.com.