The 69-year-old man missed golf most in the spring. How he loved the cool mornings of South Carolina, the feel of the club in his hands, his arms and his body are moving in that perfect arc. But even before he had to stop, he noticed a change. The sensations of his fingers slowly disappeared, and then their strength disappeared. He gave up the game after almost ruining his friends. His club quickly jumped out of his hand at the end of his stroke. Missed him in inches.
There were many things he couldn’t do. He couldn’t open the jar and couldn’t turn his doorknob. His wife gave him a special tool and he was able to button his shirt. He had to wear slip-on shoes. He couldn’t even cut his flesh. He was always independent and each new loss was devastating.
He told his doctor about it a few years ago when he had to give up the game. She was worried and sent him to a neurologist. A specialist diagnosed him with carpal tunnel syndrome. She explained that as she passed through the passage of the wrist bones, called the carpal tunnel, the nerves that bring the sensations from the fingers to the brain were compressed. It was an overuse injury and rest and splint use 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 also lost the ability to feel. In the end, he felt as if he was walking on a block of wood. Then his legs began to feel weak.
Show me how to walk
As he got worse, he saw the entire lineup of professionals. More neurologists and rheumatologists — and he met two oncologists because he had cancer 20 years ago and received radiation therapy on his neck and chest to treat it. .. Virtually everyone was able to tell him what he had: peripheral neuropathy, loss of nerve function in his hands and feet, and more recently in his arms and legs. But why he had it, where it came from, and how he could stop it — those necessities kept escaping them.
He took a test of his blood, his urine, his nerves. Six years later, he learned that he had dozens of terrible illnesses he didn’t have. He was not diabetic, HIV, Lyme disease, hepatitis. His thyroid gland was closed by radiation therapy he received for his cancer, but he took thyroid hormone daily. His level has always been perfect. His vitamin level was okay.
Most recently, a rheumatologist tested him for all the autoimmune diseases he could think of, and when none of the tests were revealed, he still tried a high-dose prednisone course. If his immune system goes wrong, it will help to suppress that system, which is what Prednisone does. Otherwise, the doctor told him he didn’t know what he could do anymore. At this point, the patient needed a specialist at the Academic Medical Center. They saw a wider range of illnesses and caught up with the latest research. He proposed a rheumatology group in Charleston, South Carolina Medical College. The man immediately called them, but he couldn’t get a promise for months. And by that time, he and his wife were on the coast of New Jersey, where they spent every summer with their grown-up children.
Instead, he contacted the University of Pennsylvania Health System in Philadelphia. Just an hour from their beach house, he got a pacemaker a few years ago. The following week, from his home in North Myrtle Beach, South Carolina, a single phone call made an appointment for telemedicine with a pen neurologist.
After the patient signed on to his video visit, Dr. Mariam Salive listened carefully when he talked about activities that he could no longer pursue and his deteriorating weakness and disability. He could hardly walk and had lost nearly 40 pounds in the last few years. He was 69 years old, but he felt like an old man. Salive got up and asked her to show her how he walked. He leaned forward and used his arms to stand upright.
Even in the video, Saleeb could see the patient’s hands mostly skeletal muscle, as if the fat and muscle had simply melted. His arms were also much thinner than she expected from his figure. His walking was awkward, his feet extended far beyond the width of his hips, giving Frankenstein monster-like quality to his movements, and he was unable to lift the toes of his right foot when he walked. I was dragged by. She had to do some additional testing. When was he able to come to her office? Immediately he told her. They were traveling north in 6 weeks.
When she finally saw the patient, Salive noticed that the man was even thinner than he saw on the video visit. And he had almost no sensation in his feet. When she stabbed him with the tip of her safety pin, he didn’t even blink until she crossed her knees. His hands were almost as bad. And he was right — he was very weak. To test the nerves in her arms and legs, she fired a small electrical pulse on one nerve to measure the strength of the signal and the time it took to reach one point to another. There was little signal from the lower limbs to the feet, only traces from the hands to the arms.
Peripheral neuropathy has hundreds of possible causes. Diabetes is probably the most common. Alcohol abuse can do that. Therefore, vitamin B12 may be too low or too high. Some medicines can cause this type of neuropathy and some toxins. So are autoimmune and hereditary diseases.
Most peripheral neuropathy first affects the senses. He had what was called neuropathy in stockings and gloves. It starts with the foot and continues to move upwards towards the hand. In most cases, the feet and hands are burned and stabbed as if they were stabbed with a pin and a needle, and then slowly, usually over the years, disappear. However, this kind of rapidly progressing, combination of severe sensory loss and weakness was a danger signal. Salive didn’t know what he had, but he was convinced he needed to meet a more professional person, and he introduced him to a clinic focused on neuromuscular disease.
Special test
Dr. Margaret Means was the first doctor to be convinced that a diagnosis could be found. After her exam, she said, “You really had a lot on your plate, but we know we’re going to reach the bottom of this.” Then she disappeared. Ten minutes later, she returned with a tall man dressed in scrubs. She introduced her as Dr. Chafic Karam.
Karam asked a few questions and confirmed the records brought by the patient. After a brief test, he told the patient to send him to the lab for further blood tests, but first they had subcutaneous fat in his abdomen to look for a condition known as amyloidosis. I wanted to have a biopsy. In this disorder, the liver produces abnormal proteins that form fibers that circulate throughout the body and invade organs and nerves, as well as fat and skin. These fibers interfere with the normal functioning of the body just by being there. They are one cause of peripheral neuropathy.
Two weeks later, Karam called for results. What he had was very rare, probably 10,000 worldwide. It was a type of amyloidosis caused by a genetic abnormality he inherited from one of his parents. And this anomaly was the cause of many of his medical problems. That was why he needed a pacemaker — because the fibers interfered with his ability to regulate the rhythm of the heart. That’s why he was losing weight. His digestive system had a hard time absorbing the nutrients he ate. And that was certainly the reason he had this debilitating neuropathy. The patient thought of his parents. My parents were dead for years. Both had many health problems, but he didn’t know who had this amyloidosis.
His children were at risk, Karam told him: it was 50-50 possible that he had passed on to them this abnormal gene. His children have not yet been tested and the patient is worried about what they will find. Still, there are new medicines that can slow down this process, although they cannot repair the damage that has already been done. The patient is currently taking two of these medications and his physical fitness has stopped declining. Slowly, he can still walk. And he accepted the fact that he would never play golf again. These days, it’s enough to see for some reason.
Lisa Sanders, MD is a magazine contributor. Her latest book is “Diagnosis: Solving the Most Troublesome Medical Mysteries”. If you have a resolved case to share, write her to Lisa.Sandersmdnyt@gmail.com.
