It was in the spring that the 69-year-old man missed the game of golf the most. How he loved the cool morning of South Carolina, the feeling of the club in his hands, his arms and his body moving under that perfect pressure. But before he could stop, he noticed a change. The sensations in his fingers slowly disappeared, then their energy. He quit the game after almost cloning a friend; At the end of his stroke his club flew out of his hands. Inches miss him.
There were many things he could not do. He couldn’t open the jar, couldn’t turn the door. His wife gave him a special tool so he could button his own shirt. He had to wear slip-on shoes. He could not even cut his own flesh. He was always independent, and every new loss felt devastating.
He told his doctor about it a few years before he left the game. He was concerned and referred her to a neurologist. Specialists diagnosed him with carpal-tunnel syndrome. He explained that the nerve that carries sensations from his fingers to his brain was known as the carpal tunnel as it passed through the passages of his wrist bones. It was an overuse use injury, and rest and splint use usually helps. Not now. And it soon became clear that it was not just his hands. Her legs start to burn and then they also lose the ability to feel. At last he felt as if he were walking on a piece of wood. Then his legs began to weaken.
Show me how you walk
As his condition worsened he saw a complete lineup of experts. More neurologists and rheumatologists – and since she was diagnosed with cancer 20 years ago and had radiation therapy in her neck and chest for treatment, she has seen a few oncologists. Virtually everyone could tell him what he had: a peripheral neuropathy, decreased nerve function in his arms and legs, and more recently in his arms and legs. But why did he have it, where did it come from and how could it be stopped – the essentials are to avoid them.
Her blood, urine, nerves have been tested. Six years later, he realized that he had dozens of terrible diseases that he did not have. It was not diabetes, HIV, Lyme disease or hepatitis. The radiation treatment he had for his cancer had thyroid shutting down, but he was taking thyroid hormone every day. His level was always perfect. Her vitamin levels were just right.
Most recently a rheumatologist tested him for every autoimmune disease he could think of, and even when no tests showed up, he tried a course of high-dose prednisone. If this is the case with his immune system, then suppressing the system that prednisone does will help. When that didn’t happen, the doctor told him he didn’t know what else he could do. At this point, an academic medical center specialist was what the patient needed. They have looked at a wide range of diseases and have kept pace with new research. He advised a rheumatology group a few hours south of South Carolina Medical University in Charleston. The man called them immediately but could not get an appointment for several months. And until then, he and his wife will live in coastal New Jersey, where they spend every summer with their older children.
Instead, he reached out to the University of Pennsylvania Health System at Philadelphia. It was just an hour away from their beach house and a few years ago he found a pacemaker there. The following week he received a telehealth appointment with a pain neurologist, from his home in North Myrtle Beach, SC.
After the patient signed in to watch her video, Dr. Mariam Salib listened intently as she described the activities she could no longer follow and described her growing weakness and disability. He could barely walk, and he has lost about 40 pounds in the last few years. He was only 69 years old but felt like an old man. Saleb got up and asked him to show him how he was walking. He leaned forward and used his arm to push himself into a straight position.
Even in the video, Saleb sees that the patient’s hand is almost skeletal, as if the fat and muscle have just melted. Her arms were also much thinner than she expected from her build. His walking was awkward, his legs spread far beyond the width of his buttocks, giving his movements a Frankenstein-monster quality, and he couldn’t lift his right toe, so he dragged it while walking. She needs some extra testing. When can he come to his office? Soon, he told her. They were traveling north in six weeks.
When he finally sees the patient, Saleb mentions that the man was thinner than he was when he visited the video. And there was almost no feeling in his legs. When he tapped her with the point of the safety pin, she did not blink until she came to her knees. His hand was almost bad. And he was right – he was very weak. He shot small pulses of electricity into a nerve and measured the signal strength and examined the nerves in his arms and legs to see how long it would take to get from one point to another. There was almost no signal from his lower leg to his feet, and there was a trace from his hand to his arm.
There are hundreds of possible causes of peripheral neuropathy. Diabetes is probably the most common. Alcohol abuse can do this. So too little vitamin B12 or too much vitamin B6 can be. Several medications can cause this type of neuropathy, as well as some toxins. It can also lead to autoimmune diseases and inherited diseases.
Most peripheral neuropathies first affect sensation. He had what is called stockings-and-glove neuropathy: which starts in the legs and moves upwards towards the arms and continues. Most of the time, the legs and arms burn and sting as if they are stuck with pins and needles and then slowly, usually over the years, the sensation dies. But the weakness combined with such rapid progressive and deeply sensitive damage was a red flag. Saleb wasn’t sure what he had, but he was sure he would see someone more specialist and referred him to a clinic that focuses on neuromuscular disease.
A special test
Dr. Margaret means the first doctor who expressed confidence that a diagnosis could be found. After his test, he said, “You’ve really got a lot on your plate, but I know we’re going to go under it.” Then he disappeared. Ten minutes later he returned with a tall man wearing a scrub whom he introduced as Dr. Shafiq Karam.
Karam asked a few questions and reviewed the records brought by the patient. After a brief examination, he told the patient that they would send him to the lab for more blood work, but at first they wanted to take a biopsy of the fat under his abdomen to look for a condition known as amyloidosis. In this disorder, the liver produces abnormal proteins that make up the 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 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, there are probably 10,000 cases all over the world. It is 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. This is why he needed a pacemaker – because the fibers interfered with his heart’s ability to control his rhythm. That’s why he was losing weight. Her digestive system had trouble absorbing the nutrients she ate. And this is certainly why he had this debilitating neuropathy. The patient thought of his parents, both of whom had been dead for many years. They both deal with their confidence as they choose to embark on their play activities.
Her children were at risk, Karam told her: there was a 50-50 chance that she had given them this unusual gene. None of her children have been tested yet, and the patient is worried about what they might find. Nevertheless, there are new drugs that can slow down the process, although they cannot repair the damage already done. The patient is now on these two medications and the deterioration of his physical ability has stopped. He can walk slowly. And he has admitted that he will never play golf again. These days, somehow it’s just enough to see.
Lisa Sanders, MD, is a contributing writer for the magazine. Her latest book is “Diagnosis: The Solution to the Most Confusing Medical Mysteries.” If you have a case to resolve, please write to [email protected]