It was in the spring that the 69-year-old missed playing golf the most. How he loved the chilly South Carolina mornings, the feel of the club in his hands, arms and body moving in that perfect arc. But even before he had to stop, he noticed changes. The feeling in his fingers slowly faded, then their strength. He quit the game after almost beating up a friend; his club flew out of his hands at the end of his stroke. I missed it by a few centimeters.
There were so many things 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 carve his own meat. He had always been independent and each new loss was devastating.
He told his doctor a few years before he had to give up gambling. She was worried and sent him to see a neurologist. The specialist diagnosed him with carpal tunnel syndrome. She explained that the nerve that transmits sensation from her fingers to her brain was compressed as it passed through the bony passage in her 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 was not just his hands. His feet started to burn, and then they too lost their ability to feel. In the end, he felt like he was walking on wooden blocks. Then her legs started to feel weak.
Show me how you walk
As he got worse, he saw a whole range of specialists. More neurologists and rheumatologists – and because he had cancer 20 years earlier and radiation to his neck and chest to treat it, he saw a few oncologists. Almost anyone could tell him what he had: peripheral neuropathy, loss of nerve function in the hands and feet, and more recently, 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 there were dozens of terrible diseases he didn’t have. It wasn’t diabetes, HIV, Lyme disease or hepatitis. His thyroid was shut down by the radiation he underwent for his cancer, but he took thyroid hormones every day. His level was always perfect. His vitamin levels were good.
More recently, a rheumatologist tested him for every autoimmune disease he could think of, and when none of the tests were revealing, he tried high-dose prednisone treatment anyway. If it was his immune system that was going bad, then suppressing that system, which prednisone does, would help. When he 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 diseases and kept up to date with the latest research. He suggested a rheumatology group at the Medical University of South Carolina in Charleston, a few hours south. The man called them immediately but couldn’t get an appointment for months. And by then, he and his wife would be on the Jersey Shore, where they spent every summer with their adult children.
Instead, he contacted the University of Pennsylvania Health System in Philadelphia. It was only an hour from their beach house, and there had been a pacemaker a few years earlier. A single call landed him a telehealth appointment with a Penn neurologist the following week, from his home in North Myrtle Beach, SC.
After the patient registered for his video visit, Dr. Mariam Saleeb listened intently as he recounted the activities he can no longer pursue and his worsening weakness and disability. He could barely walk and had lost nearly 40 pounds in the past few years. He was only 69 but felt like an old man. Saleeb asked him to stand up and show him how he walked. He leaned forward and used his arms to pull 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 expected from his build. His gait was awkward, his legs splayed far beyond his hip width, giving his movement a Frankenstein monster quality, and he couldn’t lift the toes of his right foot, so he dragged while he walked. She had to do additional tests. When could he come to his 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 during the video visit. And he had almost no sensation in his legs. When she poked him with the tip of a safety pin, he didn’t even blink until she was above his knees. His hands were almost as damaged. And he was right, he was very weak. She tested the nerves in her arms and legs by sending tiny electrical impulses to a nerve and measuring the strength of the signal and the time it took to get from one point to another. There was almost no signal from his 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 this. The same goes for too little vitamin B12 or too much vitamin B6. Several drugs can cause this type of neuropathy, as well as certain toxins. Autoimmune diseases and hereditary diseases can too.
Most peripheral neuropathies affect sensation first. He had what was called bottom and glove neuropathy: neuropathy that starts in the feet and goes up to the hands and continues. Most of the time the feet and hands burn and sting as if stuck with pins and needles, then slowly, usually over years, the feeling dies off. 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 sure he needed to see someone even more specialized and referred him to the neuromuscular disease clinic.
A special test
Dr Margaret Means was the first doctor to express her confidence that a diagnosis could be found. After her exam, she said, “You really have a lot on your plate, but I know we’re going to get to the bottom of it. Then she disappeared. Ten minutes later, she returned with a tall man in lab coats 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 further blood work, but first they wanted to biopsy the subcutaneous fat in his abdomen to check for disease. known as amyloidosis. In this disorder, the liver creates abnormal protein-forming fibers that travel throughout the body, invading organs and nerves and even fat and skin. These fibers interfere with the normal functioning of the body simply 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 type of amyloidosis caused by a genetic defect he inherited from one of his parents. And this anomaly was the cause of many of his medical problems. That’s why he needed a pacemaker – because the fibers had interfered with his heart’s ability to regulate its rhythm. That was why he was losing weight. His digestive system was struggling to absorb the nutrients he ate. And that was definitely the reason he had this debilitating neuropathy. The patient thought of his parents, both of whom had been 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% chance that he had passed on this abnormal gene to them. None of his children have yet been tested and the patient is worried about what they might find. Yet there are new drugs that can slow this process, although they cannot reverse the damage already done. The patient is now taking two of these drugs and the deterioration of his physical abilities has stopped. He can still walk, albeit slowly. And he’s come to terms with the fact that he’ll never play golf again. Nowadays, it’s kind of enough to look.
Lisa Sanders, MD, is a contributing editor at the magazine. His latest book is “Diagnosis: Solving the Most Baffling Medical Mysteries”. If you have a solved case to share, email her at Lisa.Sandersmdnyt@gmail.com.
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