Julie Gellert had spent ten years learning to cope with the misery caused by a malfunctioning digestive system. She had undergone surgery, injections, and taken several 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 occasional vomiting became so unpredictable that she had to stash emergency “pump bags” around her Arizona apartment, Gellert wondered how much worse things could get.
Four gastroenterologists had first attributed her symptoms to acid reflux and later to gastroparesis, a condition in which food is processed too slowly. But nothing seemed to control Gellert’s debilitating symptoms for long.
In late 2019, a specialized scan revealed the elusive cause of her long-standing problems, a delayed diagnosis that resulted in harrowing treatment that may have saved her life. Gellert praises a new primary care doctor’s interest and her own tenacity in helping to establish the diagnosis.
“If it weren’t for those things, I would still be living with this,” says Gellert, now 58, who says her health has improved significantly. “Unfortunately, part of it was also dumb luck.”
In 2010, Gellert, who was battling severe acid reflux that was unresponsive to medication, underwent surgery to strengthen part of her esophagus and prevent the buildup of stomach acid. Soon after, she developed severe nausea and frequent diarrhea that resulted in several hospitalizations.
When her Phoenix gastroenterologist told her he didn’t know what was going on, she went to see 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 digestive system. The result was gastroparesis, which slows down the movement of food from the stomach to the small intestine.
Because diarrhea isn’t 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 now,” she recalls.
She was referred to a GI specialist at another hospital who agreed that Gellert had gastroparesis. She also saw a dietitian who suggested dietary changes, which provided some relief.
“Every test I did came back with no explanation for the diarrhea.”
— Julie Gellert
The gastroenterologist advised her to start taking domperidone, a drug that was withdrawn from the US market in 2004 due to concerns that it could be linked to cardiac arrest and sudden death. (It is available under limited circumstances for some patients with gastroparesis and other intractable gastrointestinal conditions.)
Gellert began ordering the drug from a company in Vanuatu, a small South Pacific country. At the doctor’s suggestion, she underwent a procedure to have a device called a port implanted in her chest so she could give herself an intravenous anti-nausea medication. She also started taking a prescription drug to treat diarrhea.
After six months, the nausea and vomiting were significantly reduced and the port was removed. The diarrhea persisted for reasons no one could explain. Gellert was hospitalized several times over the next several years as doctors searched in vain for a cause.
Repeated tests for a difficult to eradicate infection caused by the C. difficile bacteria were always negative. A colonoscopy found nothing and doctors ruled out Crohn’s disease, a serious GI condition.
“Every test I did came back with no explanation for the diarrhea,” Gellert said.
Doctors were puzzled, but came to a familiar explanation. They told her that diarrhea is not normally associated with gastroparesis “but it is in your case,” she recalls.
Pain that was ‘worse than childbirth’
In 2015, Gellert developed severe abdominal pain that was attributed to gastroparesis; pain is a common symptom of the condition. By then, she went to a fourth gastroenterologist who was closer to her home. He recommended she stop the domperidone and recommended injections of Botox into the pylorus, the valve that opens and closes during digestion. Botox is supposed to help food pass through the small intestine more quickly. The treatment, which has been described as widely used but of questionable effectiveness, could help, he told her.
Gellert said she felt better right after the outpatient procedure. But the next morning she woke up with pain “worse than contractions.” After a few days, her abdominal pain subsided considerably, but the diarrhea persisted. Gellert underwent 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 her GERD surgery was reversed, he suggested she have repeat surgery, an option Gellert flatly rejected. “I said, ‘No one goes in there anymore.'”
Thus began a cycle. When the stomach pain became unbearable, Gellert said she would call the doctor, make an appointment with one of the doctor’s assistants, and beg for help.
“I kept telling them this is debilitating,” she recalls. Their reactions, she said, became increasingly unsympathetic. It seemed clear that they thought she was exaggerating. She said one PA told her, “We’re doing everything we can,” while another reminded her that pain is to be expected with gastroparesis.
Occasionally she was sent for X-rays or CT scans that revealed nothing new or meaningful. Gellert said she was doing the best she could and was relieved that her employer understood her absence.
“It was really hard,” says Gellert, a single mom who works as an online tutor. “I spent a lot of time in the bathroom feeling very, very sick.”
In 2018, an insurance change sent Gellert to a new primary care physician. She found him extremely empathetic; he seemed determined to find out what was wrong. He wondered if her recurring symptoms suggested diverticulitis, an inflammation of the lining of the digestive system, which had been ruled out. By then, Gellert said, the vomiting had changed. There seemed to be no trigger; sometimes it woke her from a deep sleep.
“It went so fast,” she said. “There was no running” to the bathroom. “I had to be prepared,” so she deployed the puke bags.
Gellert was also plagued with new and seemingly unrelated problems. Although she had gone through menopause several years earlier, she developed hot flashes, unexplained facial flushing, and extreme fatigue. At the end of 2019, her GP sent her for another CT scan.
This time the result was different.
“I was really in shock,” said Gellert, who remembers bursting into tears. “The idea that I might have cancer had certainly crossed my mind,” she said, but she couldn’t understand why nearly six previous scans had turned up nothing. (She was later told that the size and position of the malignant tumor made it difficult to spot on a conventional CT scan.)
PNETs form in the hormone-producing cells of the pancreas and are responsible for about 7 percent of pancreatic cancers; about 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 usually grow slowly and have a much better prognosis than adenocarcinoma, which grows 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 don’t release hormones — but such tumors can grow large and spread to the liver or lymph nodes before they are detected, making them more dangerous and difficult to treat.
Gellert’s family doctor sent her to an oncologist, who ordered a specialized PET/CT scan, called a dotatate scan, to make the diagnosis.
“This scan is very 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 gastrointestinal cancers. . “If you just get a CT scan, you’re going to miss it.” Doctors suspected 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.
“Sometimes patients are told for seven or eight years that there is nothing wrong with them.”
– Satya Das, oncologist
The average time from symptom onset to a pNET diagnosis is about seven years, Das noted. Neuroendocrine tumors are both “zebras” — medical jargon for a rare disease — and “great imitators” because some of the symptoms they cause, such as diarrhea, have many causes, the oncologist noted.
“Sometimes patients are told for seven or eight years that there is nothing wrong with them and then they are diagnosed with metastatic cancer,” he said. In Gellert’s case, a specialized PET scan could have led to a diagnosis three or four years earlier. Das said he suspects the severe acid reflux Gellert was operated on for in 2010 may have been caused by the cancer, though it’s impossible to know.
“Small tumors sometimes cause terribly debilitating symptoms,” Das noted.
Gellert said her oncologist suggested two options: surgery to remove the cancer or close monitoring because her tumor was small and the surgery was tough. Gellert opted for surgery.
In March 2020, she underwent a distal pancreatectomy, a surgery to remove the tail and body of the pancreas. Gellert was 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 is under surveillance for 10 years.
But the operation almost cost her life. 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. The recovery took six months, but “I made it,” she said.
Although she developed a form of pancreatic insufficiency she was warned about before her surgery — treatment requires lifelong enzyme replacement drugs — Gellert’s abdominal pain has subsided. Her diarrhea and vomiting are intermittent and manageable and no longer dominate her life.
“I feel much better than before,” she said.
The fact that her small tumor made her so sick, Gellert said, was a blessing because “it kept me looking.” She feels incredibly lucky that her cancer hadn’t spread before it was discovered, but wishes her doctors had considered that her persistent symptoms could be due to a “zebra.”
‘I’m not sure I could have done much more. I pushed my doctors pretty hard,” she said. “It’s very important to find a doctor who is committed to getting to the root of a problem.”
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