Teen Self-Diagnoses Her Mysterious Disease

June 8, 2009 — -- Three weeks into a final project for her senior biology class, Jessica Terry, 18, made a discovery that years of tests by gastroenterologists and pathologists had failed to make.

"I yelled for my teacher, 'Ms. Welch, come in here, you have to see this!'" said Terry, a senior at Eastside Catholic High School in Bellevue, Wash.

The slide Terry had under her microscope held a slice of her own intestinal tissue. Magnified on a screen was a large, darkened clump of cells surrounded by red dots of stained white blood cells in the process of engulfing surrounding cells -- a granuloma, one of the potential indicators of Crohn's disease.

"I think I looked at the right immune response in my tissue and where it was worst," Terry said. "I didn't go into it trying to find Crohn's. I went into it looking for abnormal things to show in my project."

Terry sent her samples to pathologists who confirmed that her finding was a granuloma. Coupled with her symptoms, Terry's self-diagnosis was Crohn's disease.

An Indeterminate Gastric Problem

Terry suffered from an indeterminate gastrointestinal disease for about 10 years. Doctors wavered between diagnosing her with Crohn's disease, characterized by extreme inflammation that can occur anywhere along the gastrointestinal tract, and ulcerative colitis, characterized by inflammation in the upper lining of the large intestine.

Both Crohn's disease and ulcerative colitis can cause fever, cramping, diarrhea, weight loss and pain. Terry had all of these symptoms through middle school and parts of high school. Such similar symptoms can make them difficult to distinguish from each other.

"There was nothing in the pathology [of the disease] that would waver one way or another," said Colleen Terry, Jessica Terry's mother. "And the treatment was the same, unless she needed surgery."

Terry said her daughter had been in and out of remission for about three years but was doing well, medically, on an immunosuppressant called Remicade. Jessica Terry said that, Because she was responding well to intravenous treatments of the drug, Jessica Terry said, she had stopped getting frequent biopsies of her intestinal tissue. The slides of her tissue that she studied in her biology class were from 2004.

Two Diseases With Similar Treatments

Although Jessica thought that her positive response to Remicade should have pointed definitively toward Crohn's disease, the illness was more complicated. While Crohn's disease is often called an autoimmune disease, in which the immune system attacks healthy cells, it is not.

Crohn's disease is an overreaction to normal foreign bodies in the intestines, such as bacteria. The resulting immune response -- inflammation due to white blood cells -- can destroy surrounding healthy cells, causing digestive problems.

What Works for One Won't Work for All

Remicade worked for Jessica, but its powerful immunosuppressant properties means it works for those with ulcerative colitis as well. And, for some, Remicade does not treat either Crohn's disease or ulcerative colitis. Jessica felt better but still had no definitive diagnosis.

"You wouldn't really want to make a diagnosis based on response to treatment," said Dr. Bruce Sands, acting chief of Gastroenterology at Massachusetts General Hospital.

Jessica said her case was rare because doctors had never found a granuloma in her tissues before. Others with Crohn's disease could have thousands of granulomas in afflicted tissue. She said that, because the tissue was from old biopsies, there may have been fewer granulomas to find and that there could be more now. While her Remicade treatments had worked well for many years, the past year had been her worst since 2002.

But experts say granulomas are not a definitive diagnosis for Crohn's disease. Sands pointed out that more than half of patients with Crohn's do not have granulomas.

Taking on her own illness for a high school science project was not an opportunity to play Nancy Drew and solve a medical mystery, Terry said. But the personal significance may have made her more vigilant in her research.

"Students need to pick a tissue that has meaning for their lives," said Mary Margaret Welch, dean of Academics at Eastside Catholic High School and Terry's biology teacher. "For Jessica, it's important for us to talk about the future, how could research maybe find some cures."

A Definitive Diagnosis

Research on gastrointestinal diseases has made advances in the past several years. Dr. Shanthi Sitaraman, associate professor of Medicine at the Emory University School of Medicine in Atlanta, described a number of new blood tests as well as a swallowable camera pill that could image the length of the gastrointestinal tract and make it easier to diagnose diseases like Crohn's earlier.

"Crohn's disease is very hard to diagnose compared to ulcerative colitis because it can affect any part of the bowel," Sitaraman said. "The bowel is eight-feet long and probes can only go in a few feet at either end. ... Ten years ago [when Terry was symptomatic], we didn't have camera pills or blood tests."

With a definitive diagnosis in hand and an effective treatment regime, Terry plans to head to college and nursing school. And as part of her science project, Terry wrote a children's book called "A Parent and Child's Guide to Cope With Crohn's Disease." Part diary, part resource guide, the book tells the story of Little Lilly, a girl with Crohn's disease, describing her emotions alongside scientific explanations of what the illness is and what it can do.

"Growing up the worst part for me was not knowing what to expect -- what to expect from tests, from medications that may or may not work," Terry said. "This book is a child and parent's way to cope with the disease and realize what's going on."