Her crippling digestive problems were caused by a 'zebra' malady
Julie Gellert had spent a decade learning to cope with the miseries inflicted by a malfunctioning digestive system. She had undergone surgery, endured injections and taken a variety of medications - one of which is banned in the United States - to treat severe abdominal pain, chronic diarrhea and recurrent vomiting.
But three years ago when her episodic vomiting grew so unpredictable she had to stash emergency "barf bags" around her Arizona apartment, Gellert wondered how much worse things could get.
Four gastroenterologists had attributed her symptoms first to acid reflux and later to gastroparesis, a disorder in which food is processed too slowly. But nothing seemed to control Gellert's incapacitating symptoms for long.
In late 2019, a specialized scan revealed the elusive cause of her long-standing problems, a delayed diagnosis resulting in harrowing treatment that may have saved her life. Gellert credits the interest of a new primary care doctor and her own tenacity in helping to ferret out the diagnosis.
"If it wasn't for those things I'd still be living with this," said Gellert, now 58, who says her health has improved significantly. "Sadly, part of it was also dumb luck."
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In 2010 Gellert, who had been struggling with severe acid reflux that did not respond to medication, underwent an operation to strengthen part of her esophagus and prevent the backup of stomach acid. Soon afterward she developed severe nausea and frequent diarrhea that resulted in several hospitalizations.
When her Phoenix gastroenterologist told her he didn't know what was wrong, she saw a new specialist. The second gastroenterologist told her he suspected the surgeon had accidentally damaged her vagus nerve, which transmits signals between the brain and the digestive system. The result was gastroparesis, which slows movement of food from the stomach into the small intestine.
Because diarrhea is not typically a symptom of gastroparesis, Gellert said the new doctor speculated that Gellert might have an atypical presentation. That "didn't make much sense to me but I accepted that answer for the time being," she recalled.
She was referred to a GI specialist at another hospital who agreed Gellert had gastroparesis. She also saw a dietitian who suggested dietary changes, which provided some relief.
The gastroenterologist advised her to start taking domperidone, a drug that was taken off the U.S. market in 2004 because of concerns that it might be linked to cardiac arrest and sudden death. (It is available under restricted circumstances to some patients with gastroparesis and other intractable GI disorders.)
Gellert began ordering the drug from a company in Vanuatu, a tiny country in the South Pacific. At the doctor's suggestion she underwent a procedure to implant a device called a port in her chest so she could self-administer an intravenous anti-nausea drug. She also began taking a prescription medicine to treat diarrhea.
After six months, the nausea and vomiting had lessened significantly and the port was removed. The diarrhea continued for reasons no one could explain. Gellert was hospitalized several times over the next few years as doctors searched in vain for a cause.
Repeated tests for a hard-to-eradicate infection caused by C. difficile bacteria were always negative. A colonoscopy found nothing and doctors ruled out Crohn's disease, a serious GI disorder.
"Every test I did came back with no explanation for the diarrhea," Gellert said.
Doctors were puzzled, but settled on a familiar explanation. They told her that diarrhea is not normally associated with gastroparesis "but in your case it must be," she recalled.
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In 2015 Gellert developed severe abdominal pain that was attributed to gastroparesis; pain is a common symptom of the disorder. By then she was seeing a fourth gastroenterologist who was closer to her home. He advised that she discontinue the domperidone and recommended injections of Botox into the pylorus, the valve that opens and closes during digestion. Botox is supposed to allow food to pass more quickly into the small intestine. The treatment, which has been described as widely used but of questionable effectiveness might help, he told her.
Gellert said that immediately after the outpatient procedure she felt better. But the next morning she awoke in agony "worse than labor." After several days her abdominal pain eased considerably, but the diarrhea continued. Gellert went on to have two more Botox treatments months apart with similar results.
The fourth gastroenterologist "was very sympathetic and worked hard to figure out what was wrong," Gellert said. After a scan showed that her GERD surgery had come undone, he suggested she undergo a repeat operation, an option Gellert flatly rejected. "I said 'No one's going to go in there again.'"
So began a cycle. When the abdominal pain became unbearable Gellert said she would call the doctor's office, make an appointment with one of the physician assistants and beg for help.
"I kept telling them this is debilitating," she remembered. Their reactions, she said, grew increasingly unsympathetic. It seemed clear that they thought she was exaggerating. She said that one PA testily told her, "We're doing everything we can," while another reminded her that pain is to be expected with gastroparesis.
Periodically she would be sent for X-rays or CT scans that failed to uncover anything new or meaningful. Gellert said she managed as best she could and was relieved that her employer was understanding about her absences.
"It was really hard," said Gellert, a single mother who works as an online college tutor. "I spent a lot of time in the bathroom feeling very, very ill."
In 2018, an insurance change resulted in Gellert seeing a new family physician. She found him to be unusually empathic; he seemed determined to figure out what was wrong. He wondered if her recurrent symptoms signaled diverticulitis, an inflammation involving the lining of the digestive system, which was ruled out. By then, Gellert said, the vomiting had changed. There seemed to be no trigger; sometimes it woke her out of a deep sleep.
"It was that rapid," she said. "There was no running" to the bathroom. "I had to be prepared," which is why she deployed the barf bags.
Gellert was also plagued by new and seemingly unrelated problems. Although she had gone through menopause several years earlier, she developed hot flashes, unexplained facial flushing and extreme fatigue. In late 2019 her primary care doctor sent her for yet another CT scan.
This time, the result was different.
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The scan revealed a 7 millimeter tumor, slightly larger than a pencil eraser, on Gellert's pancreas. During an emotional meeting her family physician said he suspected it was not an adenocarcinoma, the most common and lethal form of pancreatic cancer, but rather a rare pancreatic neuroendocrine tumor (pNET). Such tumors are often, but not always, malignant.
"I was really in shock," said Gellert, who remembers bursting into tears. "The idea that I might have cancer had certainly gone through my mind," she said, but she couldn't understand why nearly half a dozen previous scans had found nothing. (She was later told that the size and position of the malignant tumor made it hard to spot on a conventional CT scan.)
PNETs form in the hormone-producing cells of the pancreas and account for about 7 percent of pancreatic cancers; roughly 4,300 Americans will be diagnosed with such a tumor this year. PNETs killed Apple co-founder Steve Jobs and singer Aretha Franklin, both of whom lived about eight years after diagnosis.
These tumors typically grow slowly and have a much better prognosis than adenocarcinoma, which tends to grow quickly and is usually discovered after it has spread. Treatment includes surgery, sometimes followed by chemotherapy and hormone therapy depending on the stage of the cancer. Most pNETs are nonfunctional - they do not release hormones - but such tumors can grow large and spread to the liver or lymph nodes before they are discovered, making them more dangerous and harder to treat.
Gellert's primary care doctor sent her to an oncologist, who ordered a specialized PET/CT scan known as a dotatate scan, which clinched the diagnosis.
"This scan is highly specific for neuroendocrine tumors," said oncologist Satya Das, who is affiliated with the neuroendocrine tumor program at Vanderbilt University's Ingram Cancer Center and specializes in treating patients with advanced GI cancers. "If you just get a CT scan, you're going to miss it." Doctors suspected that Gellert's tumor was a functional gastrinoma, in part because of her facial flushing and hot flashes. Such tumors secrete excess gastrin, a hormone involved in the production of stomach acid.
The average time from the advent of symptoms to a pNET diagnosis is about seven years, Das noted. Neuroendocrine tumors are both "zebras" - medical slang for a rare malady - and "great imitators" because some of the symptoms they trigger, such as diarrhea, have many causes, the oncologist observed.
"Sometimes patients are told for seven or eight years that there's nothing wrong with them and then they're diagnosed with metastatic cancer," he said. In Gellert's case, a specialized PET scan performed three or four years earlier might have led to a diagnosis. Das said that he suspects the severe acid reflux for which Gellert underwent surgery in 2010 may have been caused by the cancer, although it is impossible to know.
"Tiny tumors sometimes cause terribly debilitating symptoms," Das noted.
Gellert said her oncologist presented two options: surgery to remove the cancer or close monitoring because her tumor was small and the operation is arduous. Gellert chose surgery.
In March 2020 she underwent a distal pancreatectomy, an operation that removes the tail and body of the pancreas. Gellert felt lucky: her cancer was classified as a grade 1, the most favorable prognosis; it had not spread to her liver or lymph nodes. Surgery was the only treatment required. Because pNETs can recur, Gellert will be monitored for 10 years.
But the operation nearly killed her. Within days Gellert developed a pancreatic leak that resulted in an abdominal abscess, a blood clot and severe sepsis, an overwhelming systemic infection with a high mortality rate. Recovery took six months, but "I made it through," she said.
Although she developed a form of pancreatic insufficiency that she had been warned about before her operation - treatment requires lifelong enzyme replacement drugs - Gellert's abdominal pain has vanished. Her diarrhea and vomiting are occasional and manageable and no longer dominate her life.
"I feel much better than I did before," she said.
The fact that her tiny tumor made her so sick, Gellert said, was a boon because "it caused me to keep looking." She feels incredibly lucky that her cancer did not metastasize before it was discovered, but wishes her doctors had considered that her intractable symptoms might be the result of a "zebra."
"I'm not sure there was much more I could have done. I pushed my doctors pretty hard," she said. "It's really important to find a doctor who's determined to get to the root cause of an issue."
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