Publisher Health

The 56-year-old woman eased herself into her desk chair. Sitting was wildly uncomfortable these days. She clicked on the link to her Facebook page and began her post: “I’ve been struggling mightily for the past few weeks with sciatica, which is excruciating leg pain caused by a pinched or irritated nerve.” It hurt to stand; it hurt even more to sit — the weight of her body was torture on her thighs. The only times she was mostly pain free were when she was lying down and when she was walking. She was a journalist, and for the past several weeks she had to do all her reporting and writing from her couch. She’d seen her doctor, who gave her a muscle relaxer, and her chiropractor, who adjusted her back. Neither provided any relief.

The patient had been healthy her entire life. Then at 50 she wrestled with an ugly bout of colon cancer. She recovered completely with lots of help from surgery and chemotherapy. Four years later, she developed severe asthma out of the blue. A thoughtful pulmonologist helped her get that under control, but she hadn’t felt well since. It was as if she had crossed some threshold. She got these strange bouts of aches and pains, occasional numbness and weakness that lasted for days. Lymph nodes blew up to a painful size, then disappeared. Now this terrible leg pain. Strangely, her back didn’t hurt at all, but her legs, especially the left, were killing her.

It was her husband who gave her pain a name — sciatica. But he didn’t know how to fix it. Finally, she decided to ask the crowd — or at least her crowd of Facebook friends. “Any suggestions out there from people who have gone through this?” Within hours she got more than 60 responses. Most offered sympathy, heartfelt and welcome but not helpful. Finally, a Facebook friend who was married to a physical therapist messaged her: See my husband. He can tell you right away if you need an M.R.I. or if P.T. is likely to be enough.

Nothing on the M.R.I.

She saw her friend’s husband, who gave her some exercises and told her that if they helped, great, but if they didn’t, she probably needed an M.R.I. She was religiously adherent to the prescribed regimen, but the pain persisted. The sciatic nerve is the largest nerve in the body, and the irritation of that nerve that causes the pain better known as sciatica is usually a result of pressure from the bony spinal column. Those points can often be seen on an M.R.I. But not, as it turned out, on her M.R.I.

And that was why, three days later, she made her way to the office of Dr. Dustin Nowacek, a neurologist at Bronson Methodist Hospital in Kalamazoo, Mich. The patient detailed her weeks of pain and weakness. Reclining was OK; walking was mostly painless, though she tired out much too quickly. But just about anything else — especially sitting or standing still — was excruciating.

Nowacek noted that the patient limped as she moved from the chair to the examination table. On exam, her left foot was clearly weaker than the right. Indeed, she was unable to keep her left foot pointed up when he applied any downward pressure. And on the right, the foot was strong, but her big toe was not. She couldn’t keep it pointed up when he pressed on it with his thumb. When the doctor tapped the Achilles’ tendon on her right leg, the foot twitched in the expected response. But on the left side, nothing: no reflex movement at all. She was a little alarmed when the doctor pulled out a safety pin and explained that he was going to poke her with it to check her ability to feel pain. Oh, she could feel pain, she assured him. And she could feel the sharp tip of the point everywhere — until he pricked the top of her left foot. There she felt nothing.

This kind of nerve injury, which affects both the ability to feel and the ability to move, can have many causes. It was patchy rather than symmetrical, which narrowed the possibilities. Could it be caused by her cancer, back after six years? It seemed unlikely. Thyroid disease was possible, but her symptoms didn’t really fit. This was more likely to be some type of infection: Lyme disease, or H.I.V. or hepatitis. Autoimmune diseases could do this as well. Nowacek sent off a slew of blood tests to look for all of these.

The results trickled in. Her thyroid was normal. It wasn’t H.I.V. or Lyme disease, or any of the usual types of hepatitis. Indeed, the only abnormalities were those suggestive of some kind of autoimmune disease. He had no idea which, so he referred her to a rheumatologist in his practice, Dr. Lakshmi Kocharla.

As her physician assistant interviewed the patient, Kocharla carefully reviewed her records and test results. This kind of neuropathy was not uncommon in autoimmune disorders. Sjogren’s syndrome and lupus were probably the most common, but there were others. She would have to keep an open mind and look for other symptoms that might narrow the field. These kinds of mysteries were one of the great pleasures of working in rheumatology. The P.A. summarized her findings, and Kocharla entered the exam room and introduced herself to the middle-aged woman and her husband. She’d heard about the painful legs, Kocharla began, but what else has been going on? So much! She had aches and pains everywhere, and she’d lost more than 20 pounds over the past few months. Maybe the pain had stolen her appetite, but she hadn’t really felt well since she developed asthma two years earlier. That seemed to get the rheumatologist’s attention — which surprised the patient. She had told many doctors about her out-of-the-blue asthma, but none seemed to think it was important. Until now.

A New List of Symptoms

“Hang on a second,” Kocharla said, after hearing this part of the story. She turned to her laptop computer and typed something in it. Then she passed it to the patient. “Do any of these symptoms seem familiar?” she asked.

The patient looked through the list.

Fatigue: Sure, but who isn’t tired? Weight loss: check. Swollen lymph nodes: check. Muscle pain: check.

And she had the asthma and the numbness and weakness in her left foot and right big toe. “I think you have something called eosinophilic granulomatosis with polyangiitis,” Kocharla said. E.G.P.A. was formerly called Churg-Strauss syndrome for the two physicians, Jacob Churg and Lotte Strauss, who first described the condition in 1951. The disease is linked to an elevated level of white blood cells called eosinophils — the cells that respond in allergic reactions. Somehow these cells become involved in the destruction of small blood vessels all over the body. That’s what causes the numbness and the loss of strength and reflexes. These cells can lead an attack on blood vessels anywhere in the body. It is not clear what triggers this disorder, but it is a destructive, sometimes deadly, disease.

Kocharla checked the patient’s blood count. Indeed, her eosinophil count was quite high — eight times the level normally seen. The rheumatologist had never seen this disease in a patient before but had certainly learned about it in her fellowship. It would take a biopsy to confirm the diagnosis, but doing that could permanently damage the already-injured nerve. This patient fit nearly all the diagnostic criteria. She started the patient on a high dose of prednisone to weaken the white-cell-led attack. But because she had never seen a patient with E.G.P.A., she wanted the diagnosis confirmed by someone with more experience: She sent the patient to the Mayo Clinic in Rochester, Minn., to get a second opinion. Even before the patient saw the doctors at Mayo, she had no doubt that Kocharla had been right. After just a week on the steroids she felt great. The pain was gone. She could sit and stand. The level of eosinophils dropped to normal. She could go back to work. The rheumatologist at Mayo had seen many cases of E.G.P.A. before and agreed with Kocharla’s diagnosis. They started her on a second immune-suppressing medication.

Following her instincts as a reporter, the patient began to read up on the disease. One article suggested that walking can help control this and other autoimmune diseases, so the patient started taking walks. She averages six to seven miles a day. It has allowed her doctors to lower her medication doses, and she says that even though she is sick — in a very real way sicker than she has ever been — she has never felt healthier.

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.