Years of pain, digestive problems preceded a diagnosis

But three years ago, when his episodic vomiting became so unpredictable that he had to keep emergency “barf bags” in his Arizona apartment, Gellert wondered how much worse things could get.

Four gastroenterologists had first attributed his symptoms to acid reflux and then to gastroparesis, a disorder in which food is processed too slowly. But nothing seemed to control Gellert’s crippling symptoms for long.

In late 2019, a specialist exam revealed the elusive cause of his longstanding problems, a late diagnosis that resulted in harrowing treatment that could have saved his life. Gellert credits a new primary care physician’s interest and his own tenacity in helping uncover the diagnosis.

“If it wasn’t for those things, I would still be living with this,” said Gellert, now 58, who says his health has improved significantly. “Unfortunately, part of that was also pure luck.”

In 2010, Gellert, who had been battling severe acid reflux that was unresponsive to medication, underwent a operation to strengthen part of your esophagus and prevent stomach acid buildup. Soon after, she developed severe nausea and frequent diarrhea that led to several hospitalizations.

When her Phoenix gastroenterologist said he didn’t know what was wrong, she saw a new specialist. The second gastroenterologist told her that she suspected the surgeon had accidentally injured her. vagus nerve, which transmits signals between the brain and the digestive system. The result was gastroparesis, which slows the movement of food from the stomach into the small intestine.

Because diarrhea is not usually a symptom of gastroparesis, Gellert said the new doctor speculated that Gellert might have an atypical presentation. That “didn’t make a lot of sense to me, but I accepted that answer for now,” she recalled.

She was referred to a gastroenterology specialist at another hospital who agreed that Gellert had gastroparesis. She also saw a dietitian who suggested dietary changes, which provided some relief.

“All the tests I did came back with no explanation for diarrhea.”

—Julie Gellert

The gastroenterologist advised him to start taking domperidone, a drug that was withdrawn from the US market in 2004 due to concerns that it might be linked to cardiac arrest and sudden death. (It is available in restricted circumstances for some patients with gastroparesis and other intractable gastrointestinal disorders.)

Gellert began ordering the drug from a company in Vanuatu, a small country in the South Pacific. At the doctor’s suggestion, he underwent a procedure to implant a device called port in his chest to be able to self-administer an intravenous anti-nausea drug. He also started taking a prescription medication to treat diarrhea.

After six months, the nausea and vomiting had decreased 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 testing for a difficult-to-eradicate infection caused by It’s hard bacteria were always negative. A colonoscopy found nothing and the doctors ruled out Crohn’s diseasea severe GI disorder.

“All the tests I did came back with no explanation for diarrhea,” Gellert said.

The doctors were baffled, 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.

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 disorder. By then, she was seeing a gastroenterologist room that was closer to her house. She advised him to stop the domperidone and recommended injections of botox in it pylorus, the valve that opens and closes during digestion. Botox is supposed to allow food to pass through the small intestine more quickly. The treatment, which has been described as widely used but of questionable efficacy could help, he told her.

Gellert said that immediately after the outpatient procedure he felt better. But the next morning she woke up with agony “worse than childbirth.” After several days, her abdominal pain lessened considerably, but the diarrhea continued. Gellert underwent two other Botox treatments months apart with similar results.

The fourth gastroenterologist “was very understanding and worked hard to figure out what was wrong,” Gellert said. After a scan showed that his GERD surgery had undone, he suggested that he undergo a new operation, an option that Gellert flatly rejected. “I said, ‘Nobody’s going to go back in there.'”

Thus began a cycle. When the abdominal pain became unbearable, Gellert said he would call the doctor’s office, make an appointment with one of the medical assistants and ask for help.

“I kept telling them that this is debilitating,” he recalled. His reactions, she said, became increasingly unsympathetic. It seemed clear that they thought she was overreacting. She said one personal assistant told her irritably, “We’re doing everything we can,” while another reminded her that pain is to be expected with gastroparesis.

Periodically, she was sent for X-rays or CT scans that failed to reveal anything new or significant. Gellert said she got by as best she could and she was relieved that her employer understood 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 sick.”

In 2018, an insurance change caused Gellert to see a new family doctor. She found him unusually empathetic; he seemed determined to find out what was wrong. She wondered if his recurring symptoms indicated diverticulitis, an inflammation that affects the lining of the digestive system, which was discarded. By then, Gellert said, the vomiting had changed. He seemed to have no trigger; sometimes he woke her from a deep sleep.

“It was that fast,” he said. “He did not run” to the bathroom. “She had to be ready,” which is why she unfolded the barf bags.

Gellert was also plagued with new and seemingly unrelated problems. Although he had gone through menopause several years earlier, he developed hot flashes, unexplained facial flushing, and extreme fatigue. In late 2019, her primary care physician sent her for another CT scan.

This time, the result was different.

“I was really in shock,” said Gellert, who remembers breaking down in tears. “The idea that I might have cancer had certainly crossed my mind,” he said, but he couldn’t understand why nearly half a dozen previous scans had turned up nothing. (She was later told that the size and position of the malignant tumor made it difficult to detect on a conventional CT scan.)

PNET are formed in the hormone-producing cells of the pancreas and represent approximately 7 percent of pancreatic cancers; approximately 4,300 Americans will be diagnosed with such a tumor this year. PNETs killed Apple co-founder steve jobs and singer Aretha Franklinwho lived for about eight years after diagnosis.

These tumors are generally slow growing and have a much better prognosis than adenocarcinoma, which tends to grow rapidly 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 (do not release hormones), but these tumors can grow and spread to the liver or lymph nodes before they are discovered, making them more dangerous and difficult to treat.

Gellert’s primary care physician referred her to an oncologist, who ordered a specialized PET/CT scan known as a dotatate scan, which secured the diagnosis.

“This scan is highly specific for neuroendocrine tumors,” said the oncologist. satya race, affiliated with the Neuroendocrine Tumor Program at Vanderbilt University Ingram Cancer Center and specializing in the treatment of patients with advanced gastrointestinal cancers. “If you only get one CT scan, you’re going to miss it.” Doctors suspected that Gellert’s tumor was a functional gastrinoma, partly due to his 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 nothing is wrong with them.”

— Satya Das, oncologist

The average time from symptom onset to pNET diagnosis is about seven years, Das noted. Neuroendocrine tumors are both “zebras”—medical slang for a rare disease—and “great imitators” because some of the symptoms they trigger, such as diarrhea, have many causes, the oncologist noted.

“Sometimes patients are told for seven or eight years that nothing is wrong with them and then they are diagnosed with metastatic cancer,” he said. In Gellert’s case, a specialized PET scan performed three to four years earlier could have led to a diagnosis. Das said he suspects that the severe acid reflux for which Gellert underwent surgery in 2010 may have been caused by cancer, although it’s impossible to know.

“The tiny tumors sometimes cause terribly debilitating symptoms,” Das noted.

Gellert said his oncologist presented him with two options: surgery to remove the cancer or strict monitoring because his tumor was small and the operation is arduous. Gellert chose surgery.

In March 2020 he 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 his liver or lymph nodes. Surgery was the only treatment required. Because pNETs can come back, Gellert will be monitored for 10 years.

But the operation almost killed her. Within days Gellert developed a pancreatic drain which resulted in an abdominal abscess, a blood clot, and serious septicemia, an overwhelming systemic infection with a high mortality rate. Recovery took six months, but “I made it,” she said.

Although she developed a way of pancreatic insufficiency He had been warned about before his operation (treatment requires lifelong enzyme replacement drugs), Gellert’s abdominal pain has disappeared. Her diarrhea and vomiting are occasional and manageable and no longer dominate her life.

“I feel much better than before,” he said.

The fact that her little tumor made her so sick, Gellert said, was a blessing because it “made me keep looking.” She feels incredibly lucky that her cancer didn’t metastasize before it was discovered, but she wishes her doctors had considered that her intractable symptoms could be the result of a “zebra.”

“I’m not sure there was much more he could have done. I put a lot of pressure on my doctors,” she said. “It is very important to find a doctor who is determined to get to the root cause of a problem.”

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