He was diagnosed with Lyme disease. Why did the treatment have no effect?

The couple didn’t quite remember when the 61-year-old started getting sick. Was it before you retired last spring? No, it was later, the man insisted. But both men agreed that they knew something was very wrong the day the recently retired man fell while he was walking up the stairs. He was carrying his new laptop when his right leg suddenly buckled. If he hadn’t had the computer, maybe he would have been able to recover. Instead, holding his new machine up, he fell forward and slid down a couple of steps. He scraped his shins and forearms; His blood seeped from the superficial wounds. And he was too weak to get up. “I need help,” he called to his companion upstairs. The man, already standing after hearing the blow, appeared almost instantly next to him.

He picked up his partner and half carried him to the upstairs bathroom. “You really need to call your doctor,” she muttered as she wiped away her scratches. She had been urging him to do this for weeks, ever since he noticed how easily his partner got hurt and how strangely thin his skin looked. And there were other changes. He was calmer. His easy laugh was almost gone. The most worrying thing is that he seemed confused and forgetful; Sometimes he didn’t make sense. They had been together for more than 40 years; The man knew his partner well. These changes scared him.

When the man agreed to see the doctor, he could barely move his leg that gave way on the stairs. He walked with difficulty and had to hold on to his companion as they walked from the car to the medical center in Durham, Connecticut. The doctor on duty that day basically took one look at the bruised and limping man and sent him to Yale New Haven Hospital. At the very least, the patient was going to need a scan. He’d probably need more.

In the emergency room, a physical examination revealed that the muscles in his right thigh were not working at all. And the skin there was numb. Her blood chemistry was out of control: his potassium was dangerously low. An MRI of her entire spine provided no answers. She lived in a wooded area, not far from Lyme. Had she noticed a tick bite? Or a rash? He had no bites, but a friend had pointed out a rash earlier that summer. He was in a place he couldn’t see and he simply forgot. A blood test and then a lumbar puncture confirmed the diagnosis: he had Lyme disease. Both men felt a shiver of relief. He would need a full month of antibiotics, but once he received treatment, he should improve.

But he didn’t do it. A month later she was still weak, still bruised and bleeding. He was tired; His thoughts remained confused. And his blood pressure was out of control. She had a history of hypertension, but she had always been well controlled with a single medication. Suddenly, he wasn’t. His primary care doctor prescribed a second medication and then a third, but his blood pressure remained higher than ever. His doctor sent him to a cardiologist, who prescribed the patient even stronger blood pressure medications. He also ordered an ultrasound of the man’s heart to make sure it was beating normally. He was, but the aorta looked strange. A CT scan assured him that the man’s aorta was normal, but revealed an unexpected finding: Above his left adrenal gland was a mass the size of a golf ball.

Accidental findings on CT scans are so common that they have a name: incidentalomas. Up to 7 percent of abdominal imaging studies will reveal an incidentaloma in one of the adrenal glands. Most of these masses are benign and do not produce any of the hormones that the adrenal gland normally produces. Still, everything needs to be evaluated. The cardiologist called the patient to break the news and referred him to an endocrinologist at Yale.

Between difficulty scheduling an appointment with a subspecialist and an unexpected snowstorm, months passed before the patient was able to see the endocrinologist. But finally, on a cold, cloudy April day, he and his partner met in an exam room at Yale New Haven Hospital. The cheerful, smiling endocrinologist came in and introduced herself. The two men described their strange journey over the previous nine months. It all started, they explained, that summer with what turned out to be Lyme disease. He was treated but never got better. In fact, he now felt even worse. He was weak: he stopped going to the gym because he could no longer exercise. The muscles in his arms and legs seemed to evaporate. He gained weight, but none of it was muscle. He had never had a belly like that. And he was exhausted even though he slept 10 to 12 hours a night.

The endocrinologist had already reviewed the man’s CT scan, as well as the MRI done the previous summer, so he knew what he was looking for. This had nothing to do with his recent Lyme infection. The adrenal glands are responsible for providing several hormones, including fight-or-flight hormones such as adrenaline; cortisol, the hormone that regulates metabolism; and the fluid balance hormone aldosterone. Excesses of any of these could be responsible for his high blood pressure. His fragile, easily bruised skin suggested excess cortisol. Your low potassium and high sodium level could be due to excess aldosterone. His rapid heart rate could be a sign of excess stress hormones. While the doctor examined him, she looked for clues to help her determine which hormone was being overproduced. Her body was covered in bruises. Her arms and legs were thin and the muscles atrophied. Her belly, on the other hand, was soft and obese. She had fat pads on the top of each shoulder and her face was swollen, red and round. This unusual collection of symptoms was classic Cushing’s syndrome, caused by an excess of the metabolic hormone cortisol.

However, one aspect of his illness was puzzling. These adrenal tumors usually grow slowly and take years to create so much physical discord. But this man described symptoms that came on suddenly and got worse quickly. And the tumor itself seemed to be growing rapidly. Although not noticed at the time, a smaller version of the tumor was visible on the MRI performed the previous summer. A cancer could grow that fast. Was this an adrenal carcinoma? These aggressive cancers are rare (only one or two cases per million people are found each year), but they can be deadly.

The endocrinologist ordered a CT scan that day. If it was cancer, it should have grown in the months since his last scan. But even if it wasn’t cancer, he clearly needed to get out, and soon. She referred him to a surgeon. He had already been sick with this growth for quite some time.

The laboratories confirmed what the endocrinologist suspected. The man’s cortisol level was through the roof: 25 times the normal amount. CT scan showed no growth in tumor size. That was a relief. Adrenal cancers often spread beyond the gland itself, and once that happens, your chances of living longer than five years plummet.

He had surgery a month later. The response was immediate. The next day his blood pressure and heart rate returned to normal. His blood chemistry tests, including his cortisol level, were in the normal range. The overactive tumor had taken over cortisol production; His remaining adrenal gland was now on vacation and would take time to recover. In the meantime, he would need to take hydrocortisone.

The mass was examined in the laboratory. The endocrinologist was surprised to discover that it was adrenal carcinoma after all. Both doctor and patient were relieved when a PET scan showed no signs of spread.

The rest of his recovery was slow. The bruises disappeared. His muscles reappeared and his stamina returned. At the end of the year she was able to start running again. She underwent scans every few months and, after four and a half years, got what was supposed to be her last. But that scan showed a new injury to his spine. He was treated with radiation. The next year, just this fall, he had a hint of another injury. A new metastasis. He and his doctors are discussing next steps.

I spoke with the patient recently. He has a good life, he told me. He feels great. When asked about the new injury, he was reflective but optimistic. He will address these issues as they arise, he said. In the meantime, he will continue to enjoy the life he and his partner lead together. He asked: What else can any of us do?


Lisa Sanders, MD, is a contributing writer for the magazine. Her latest book is “Diagnosis: Solving the Most Perplexing Medical Mysteries.” If you have a solved case to share, please write to her at Lisa.Sandersmdnyt@gmail.com.