It was in the spring that the 69-year-old man missed golf the most. How he loved the cool South Carolina mornings, the feeling of the bat in his hands, his arms, and his body moving in that perfect arc. But even before he had to stop, he noticed changes. The feeling in his fingers faded slowly, then their strength. He gave up the game after nearly beating up 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 gave him a special tool so that he could tie his own shirts. He had to wear loafers. He couldn’t even cut his own flesh. He had always been independent and each new loss felt devastating.
He told his doctor 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 carries sensation from his fingers to his brain became pinched as he passed through the bony passageway in his wrist called the carpal tunnel. It was an overuse injury and rest and use of splints usually helped. Not this time. And it soon became clear that it wasn’t just his hands. His feet began to burn and then they too lost their sense of feeling. In the end he felt like he was walking on wooden blocks. Then his legs started to feel weak.
Show me how you walk
As he got worse, he saw a slew of specialists. More neurologists and rheumatologists – and because he had cancer 20 years earlier and radiotherapy to his neck and chest to treat it, he saw a few oncologists. Virtually anyone 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 eluded them.
He had tests on his blood, his urine, his nerves. After six years, he knew there were dozens of terrible diseases that he didn’t have. It wasn’t diabetes, HIV, Lyme disease, or hepatitis. His thyroid had been disabled by the radiation he had for his cancer, but he took thyroid hormone every day. His level was always perfect. His vitamin levels were okay.
Most recently, a rheumatologist tested him for every autoimmune disease he could think of, and when none of the tests revealed anything, he tried a high-dose course of prednisone anyway. If it was his immune system that went wrong, it would help suppress that system, which is what prednisone does. When it didn’t, the doctor told him he didn’t know what else to do. What the patient needed at this time were specialists in an academic medical center. They saw a wider range of diseases and kept up with the latest research. He suggested a rheumatology group at South Carolina Medical University in Charleston, a few hours south. The man called them right away, but hadn’t gotten an appointment for months. And by then, he and his wife would be in the New Jersey coast, spending each summer with their grown children.
Instead, he contacted the University of Pennsylvania Health System in Philadelphia. It was only an hour’s drive from their beach house, and he got a pacemaker there a few years earlier. A single phone call landed him a telehealth appointment with a Penn neurologist the following week, from his home in North Myrtle Beach, SC.
After the patient signed up for his video visit, Dr. Mariam Saleeb listened intently as he talked about the activities he can no longer do and his deteriorating weakness and disability. He could barely walk and had lost nearly 40 pounds in recent 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 prop himself up.
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’d expect from his build. He walked awkwardly, his legs were spread well beyond his hips, giving his movement a Frankenstein monstrous character, and he couldn’t lift the toes of his right foot, so he dragged as he walked. She had to do some extra tests. When could he come to her office? He soon told her. They traveled north in six weeks.
When she finally saw the patient, Saleeb noted that the man was even thinner than he looked during the video visit. And he had almost no feeling in his legs. When she poked him with the tip 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 electric pulses at a 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 from his lower legs to his feet, only 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. This also applies to too little vitamin B12 or too much vitamin B6. Several medications can cause this type of neuropathy, as well as some toxins. Autoimmune and hereditary diseases can do that too.
Most peripheral neuropathies affect sensation first. He had what’s called a stocking-and-glove neuropathy: a neuropathy that starts in the feet and progresses to the hands and continues. Usually, the feet and hands burn and sting as if they were stuck with pins and needles, and then the feeling slowly dies, usually over years. But this kind of rapidly progressive and profound sensory loss coupled with weakness was a red flag. Saleeb wasn’t sure what he had, but she was sure he needed to see someone even more specialized and referred him to the clinic that focused on neuromuscular disorders.
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’re 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 looked at the files the patient had brought with him. After a brief examination, he told the patient that they would send him to the lab for more blood tests, but first they wanted to biopsy the subcutaneous fat on his abdomen to look for a condition known as amyloidosis. In this condition, the liver creates abnormal proteins that form fibers that circulate throughout the body, enter organs and nerves, and even the fat and skin. These fibers interfere with the normal function of the body just by being there. They are a cause of peripheral neuropathy.
Two weeks later, Karam called with the results. What he had, Karam explained, was very rare, with perhaps 10,000 cases worldwide. It was a form of amyloidosis caused by a genetic defect he inherited from one of his parents. And this abnormality was the cause of many of his medical problems. That’s why he needed a pacemaker — because the fibers had disrupted his heart’s ability to regulate its rhythm. It was the reason why he was losing weight. His digestive system struggled to absorb the nutrients he ate. And it was certainly why he had this debilitating neuropathy. The patient thought of his parents, both dead for many years. Both had many health problems, but he had no idea who might have this amyloidosis.
His children were at risk, Karam told him: There was a 50-50 chance that he passed this abnormal gene on to them. None of his children have been tested yet and the patient is concerned about what they might find. Still, there are new drugs that can slow this process down, although 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 that he will never play golf again. Nowadays it is somehow enough just to watch.
Lisa Sanders, MD, is a contributing writer for the magazine. Her latest book is “Diagnosis: Solving the Most Baffling Medical Mysteries.” If you have a resolved case to share, write to Lisa.Sandersmdnyt@gmail.com.