Gut Check
Wed, 05/14/2008
Editorial Intern
When Marcy Strickler was 10 years old, she suddenly faced frequent bouts of diarrhea and completely lost her appetite and energy — far from the ideal situation for an active fifth grader. For a while, she tried to ignore the symptoms and hid everything from her parents. But as hard as she tried, she couldn’t hide the illness forever. “I just woke up one morning and I physically couldn’t go to school,” she said. Strickler, now 26, was officially diagnosed with Crohn’s disease in 1991, a chronic genetic disorder that leads to inflammation of the gastrointestinal tract. Coupled with a related condition called ulcerative colitis, Crohn’s disease is one of a broader group of illnesses known as Inflammatory Bowel Disease (IBD). Both Crohn’s disease and ulcerative colitis are genetic diseases, and through the generations they have become particularly pervasive in the Jewish population, physicians say. While doctors cannot identify precisely why Crohn’s disease and ulcerative colitis are particularly common among Jews, the illnesses do occur most frequently in Jews of Ashkenazic descent, according to Dr. Ellen Scherl, director of the Inflammatory Bowel Disease Center at Weill Medical College of Cornell University, New York-Presbyterian Hospital. She notes, however, that although the presence of the disease continues to increase within the Jewish population, numbers are also exploding globally. Though first identified in 1932 by Beryl Crohn, Scherl said, similar symptoms have been reported for centuries. Alfred the Great, who died in 899, was known to have ongoing gastrointestinal issues consistent with a diagnosis of Crohn’s disease. Most people’s gastrointestinal tracts have evolved to live harmoniously with their gut bacteria, exhibiting what Scherl calls “tolerance.” When a particular bacterium is not perceived as “friendly,” the gut becomes inflamed, as it inhibits that foreign body from entering its cavities. In this scenario, Scherl explained, a person without Crohn’s disease will experience “controlled inflammation,” as white blood cells flood the area and manage the infection appropriately. In a Crohn’s patient, the reaction doesn’t work properly. “The genes are not so good in sensing the bad bacteria, and they are overly sensitive,” Scherl said. “They actually cause an inflammatory response from friendly bacteria that they should be tolerating.” Scherl compares the perpetual inflammation in the gut to “a chronic sunburn on the inside,” which often causes perpetual diarrhea and intestinal pain. “For reasons we don’t understand, the inflammation doesn’t turn off,” she said. Particularly for young children, however, such symptoms of Inflammatory Bowel Disease can lead to incessant embarrassment and social discomfort among their peers. “I was this skinny little girl and I had this puffy moon face,” Strickler said, explaining that Prednisone, her steroid medication, visibly blew up her cheeks and made her self-conscious in front of her classmates. Meanwhile, her mother had to notify all of her teachers of the condition, so she could slip away from class to the bathroom as often as necessary. “I never had to ask to go the bathroom — I just left the classroom and I went,” Strickler said. “If there was someone else in the bathroom, I would probably wait until they left.” But Scherl and her colleagues have identified several primitive genes that are responsible for the faulty inflammatory response, which inhibits proper surveillance of good and bad bacteria. Crohn’s disease is caused by the patient’s genetic makeup, a phenomenon that doctors have identified through the Human Genome Project. A gene called Nod2 resides on Chromosome 16 and controls proper responses to bacteria in the gut, according to Scherl. In patients with Crohn’s disease, however, their Nod2 gene exhibits a double mutation, rendering the gene essentially dysfunctional and causing the gut immune system to be overly sensitive, even to friendly bacteria. While doctors initially attributed Crohn’s disease to the inflammation of the intestine only, they now blame the condition for inflammation anywhere from the mouth to the very bottom of the anus, Scherl said. Inflammatory Bowel Disease can also cause damage outside of the gastrointestinal tract, leading to problems in the perianal and perivaginal regions, as well as systemic problems and lesions. Scherl and her colleagues are currently investigating the Nod2 gene and are researching the proteins it controls, proteins that are notably missing in Crohn’s patients. If doctors are able to locate one or more of the proteins, they may be able, eventually, to replace the missing protein in a process that Scherl calls “targeted therapy.” “As we decode the genome,” she said, “we hope that we can identify select therapies that will work for individual patients.” Unfortunately, there is currently no way to screen adults or fetuses for Inflammatory Bowel Disease before symptoms develop, according to Scherl. And while the illness seems to happen most frequently among Jews, it is nearly impossible to predict whether or not a child will have the disease. Parents can only control certain environmental triggers. Scherl recommends that parents encourage their children to stay away from cigarettes and to limit intake of anti-inflammatory agents because they are anti-inflammatory everywhere except inside the gut. She also reminds patients to complete each course of medication as prescribed, even if they are feeling perfectly well. “The most common reason for a flare-up is that the patient stops taking their medication,” she said. And flare-ups are certainly possible even when medical routines are properly followed. Strickler said that during her first 10 years on and off steroids, she would typically be healthy for six months to a year and then exhibit a cyclical bout of symptoms. When she was 20 years old, she developed an abscess that required serious surgery, but she has been relatively healthy ever since. For the sixth consecutive year, Strickler and her sister — who also has Crohn’s — will be serving as counselors at one of the many week-long summer camp programs for children with Inflammatory Bowel Disease, which are funded by the Crohn’s & Colitis Foundation of America. Away from home for perhaps the first time in their lives, children are able to participate in typical camp activities, with continual access to doctors and nurses. And, for once, they can leave behind the embarrassment caused by Crohn’s or colitis and enjoy the normal discomfiture of any preteen’s years. Next month, the Crohn’s & Colitis Foundation will be holding three walks in the New York metropolitan area to raise awareness and funds. They are on Saturday, June 7, at Marjorie Post Park in Massapequa. Tuesday, June 17, at Bloomingdale’s in White Plains; and Thursday, June 19, at South Street Seaport in Manhattan. To register, log on to cctakesteps.org.