by Diana Price
For Jessie Toledano, 34, the symptoms started in April 2006, but the diagnosis of Crohn’s disease didn’t come until March the following year, just before her twenty-fifth birthday. She felt the urge to use the restroom after meals and after drinking a glass of water. There was blood in her stool, and she was losing about 5 to 10 pounds per week. What’s going on? Jessie, who lives in Miami, Florida, recalls thinking. This is so weird.
Jessie’s primary care physician prescribed medication for irritable bowel syndrome (IBS). Months later she felt worse, losing more weight and even fainting. After a colonoscopy and several biopsies, her gastroenterologist diagnosed Crohn’s, and the next medication also failed. The disease continued to flare, and she shed a total of 75 pounds, dropping from size 12 to size 2. In her most severe state, she counted 23 trips to the bathroom in a single day. Between 17 and 18 trips were the norm.
Seeking Specialized Care
Although everyone experiences gastrointestinal upset once in a while, sometimes symptoms linger for weeks or months, with no end in sight. Even your primary care practitioner may be perplexed. That’s when it’s time to consult a gastroenterologist and determine what is causing your internal plumbing to go awry.
The American College of Gastroenterology notes that a gastroenterologist is a physician with specific expertise in managing diseases of the esophagus, stomach, small intestine, colon and rectum, pancreas, gallbladder, bile ducts, and liver. After medical school, a physician must complete a three-year internal medicine residency to be eligible for a two- or three-year fellowship of specialized training in gastroenterology.
Without a gastroenterologist’s insight, an initial misdiagnosis of IBS is common when a patient, such as Jessie, has inflammatory bowel disease (IBD)—either Crohn’s or ulcerative colitis. Crohn’s most often affects the end of the small bowel (the ileum) and the beginning of the colon, but it can occur anywhere in the gastrointestinal tract, from the mouth to the anus. Ulcerative colitis is confined to the colon, or large intestine. With Crohn’s, inflammation can skip over healthy segments between areas of diseased intestine, whereas with ulcerative colitis the affected parts are continuous, according to the Crohn’s and Colitis Foundation of America.
Patients with IBS or IBD often have diarrhea, abdominal cramping, and pain, but those with IBD also experience specific alarm and inflammatory symptoms, such as bloody stool and weight loss, so treatment differs greatly. A delay in a diagnosis of Crohn’s disease increases the risk of complications that may require intestinal surgery.
Crohn’s and ulcerative colitis are lifelong digestive illnesses that may go into remission and later return with a vengeance. A gastroenterologist can ascertain whether you have a chronic condition or a temporary affliction, such as a bacterial infection.
Persistent abdominal pain tends to be the most common complaint that brings a patient to a gastroenterologist. It can emanate from any part of the abdomen, or it can feel diffuse. “Typically, people see a specialist when they’ve had that for a long time, and it’s unresolved,” says James J. Weber, MD, a gastroenterologist and the president of Texas Digestive Disease Consultants, a medical group practice near Dallas–Fort Worth, Texas.
Other symptoms that warrant a gastroenterologist’s opinion include a significant and ongoing change in bowel habits—ranging from chronic diarrhea to constipation— or blood in the stool. Abnormal weight loss or gain or difficulty swallowing also pose concerns, as do blood tests indicating elevated liver enzymes, iron-deficiency anemia, or excessive iron. X-ray findings may reveal a potential mass or other concerning findings that warrant further investigation, Dr. Weber says.
Benefiting from A Correct and Timely Diagnosis
A gastroenterologist can perform a comprehensive evaluation, such as a colonoscopy or an upper endoscopy, to arrive at an accurate diagnosis. Endoscopy involves using narrow, flexible lighted tubes with built-in video cameras to visualize the inside of the intestinal tract, remove colon polyps, and dilate the esophagus or intestines. Biopsy samples taken during these procedures are sent to a pathologist, who classifies the disease and its severity. Imaging studies also may be helpful.
Early diagnosis can have a major impact on treatment outcomes and survival rates, particularly in cancers of the digestive system. They are among the most prevalent types of cancer and also some of the most deadly.
For instance, colorectal cancer ranks as the third most common cancer in men and women and the second-leading cause of cancer-related deaths, according to the US Centers for Disease Control and Prevention. Screening with colonoscopy starting at age 50—or age 45 for African-Americans and age 40 for those with a family history—can detect precancerous changes and cancer before it spreads to other organs. When detected early, colorectal cancer is highly treatable, says James S. Leavitt, MD, president of Gastro Health in Miami, Florida.
On the other hand, pancreatic cancer is difficult to catch at an early stage, before it causes symptoms. By the time symptoms appear, they are often vague—yellowing of the skin and eyes, pain in the abdomen and back, weight loss, and fatigue. Pancreatic cancer spreads rapidly and is frequently diagnosed late. Risk factors include smoking, long-term diabetes, chronic pancreatitis (inflammation of the pancreas), and certain hereditary disorders, according to the National Cancer Institute.
Coping with A Digestive Disease
It may take years for some patients to get at the root of their digestive ailments. Susan Goolsby, 53, had experienced bloating and gas since her early thirties. More than a decade later, in 2012 at age 49, she finally learned why. A gastroenterologist diagnosed celiac disease, an autoimmune disorder marked by gluten intolerance. Exposure to foods with gluten produces an immune response that damages the small intestine.
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“Even as a dietitian, I didn’t know that’s what it was,” says Susan, the assistant director of clinical nutrition at Arkansas Children’s Hospital in Little Rock. Despite having counseled other people coping with celiac disease, “it didn’t even cross my mind. My symptoms were different from the classic presentation.”
Diarrhea and weight loss are common symptoms of celiac disease, but Susan experienced little of either. She felt extremely tired and had severe iron-deficiency anemia, which ran in her family. Nonetheless, “I never had the test at that point for celiac,” says Susan, who told her primary care physician about her symptoms and family history. “And I had a few food intolerances, which tend to go hand in hand with celiac disease, but I still didn’t put two and two together.”
While training for a marathon, Susan suffered major gastrointestinal discomfort. She chalked it up to dehydration, but it compelled her to finally see a gastroenterologist. “He knew almost immediately what it was,” she recalls. A blood test for celiac disease antibodies was highly elevated, and an upper endoscopy with biopsies confirmed the diagnosis. For accurate blood test results, patients with this condition must be on a gluten-containing diet, according to the Celiac Disease Foundation.
Gluten is a staple in many foods, so consuming anything outside your own kitchen poses challenges. “When you eat out, there’s a lot of cross-contamination,” says Susan, who researches establishments online and travels with her own gluten-free foods. “Unless it’s a gluten-certified restaurant, I really don’t trust it.”
Unlike many gastrointestinal disorders, celiac disease can be managed without prescription medicines. Simple heartburn may be alleviated with over-the-counter remedies or with the help of a primary care physician. If it is severe and frequent enough (two to three times per week), however, “you want to be able to see a gastroenterologist so you don’t get complications,” Dr. Leavitt says.
Avoiding Potentially Serious Complications
Sometimes the culprit is more serious than simple heartburn. Recurrent hoarseness, cough, or chest pain may signal the presence of gastroesophageal reflux disease (GERD), a chronic disorder that occurs when stomach acid or content flows back into the esophagus. This regurgitation, or reflux, inflames the esophageal lining. It also puts a patient at increased risk of Barrett’s esophagus, a condition in which tissue similar to the lining of the intestine replaces the lining of the esophagus.
In rare instances, Barrett’s esophagus may develop into cancer. Seeing a gastroenterologist for follow-up care greatly reduces the chances of malignancy. The physician may prescribe high-grade acid blockers and treat abnormal precancerous cells with radiofrequency ablation, which destroys the diseased lining of the esophagus, Dr. Leavitt says.
Although Barrett’s esophagus occurs twice as often in men than in women—usually striking middle-aged Caucasian males who have endured heartburn for many years—women are twice as likely to suffer from irritable bowel syndrome. Hormonal fluctuations may play a role in IBS because many women report their signs and symptoms taking a turn for the worse around menstruation.
IBS also tends to intensify around stressful occasions, whether joyous or sorrowful—such as marriage, divorce, birth, or death. It can be life disrupting, with muscle contractions of the bowel resulting in alternations between diarrhea and constipation. Stress may worsen symptoms, but it is not the cause.
After tests to rule out more-serious digestive illnesses, anti-spasm medicines and dietary interventions may help control or eliminate bloating and gas. Lifestyle changes in the form of exercise and stress reduction are also worth trying, says Dr. Weber, who sometimes refers IBS patients to a psychologist.
Feeling Well After a Long Struggle
Finding the right remedy for Jessie Toledano to rein in the disease took some trial and error. Mini-flares erupted whenever she developed a tolerance to any medication. Still she has been able to maintain her full-time job in training and development for a global insurance company.
When the condition was relatively stable, Jessie became pregnant and delivered a healthy daughter, Mia, via Caesarean section in February 2014, a few weeks early. “She’s here, and she’s my miracle,” says Jessie, who traveled on business during her pregnancy, when Crohn’s tends to go into remission. “She saved me. She gave me strength.”
Then in July 2015, Jessie needed emergency surgery to remove diseased portions of her large and small intestines and her entire appendix. Without the operation, her gut likely would have ruptured. Her surgeon described it as one of the worst cases of Crohn’s he had ever seen.
Since her health improved, Jessie has regained the weight she lost and is now wearing size 12 again. “I feel alive,” she says. “I feel like I can conquer the world. And I haven’t felt that way in so many years.”