Melissa was only 23 when she came to the Kishwaukee Community Hospital Emergency Department in the middle of the night with severe abdominal pain. She was nauseated and vomiting. A CT scan revealed a bowel obstruction and emergency surgery was required.

General Surgeon, Nitzet M. Velez, MD, was on call. The surgical team, including a scrub nurse and anesthetist, was called. A small section of her bowel was removed, including a 4.5 cm polyp, a little larger than a golf ball that was the root of her problem.

Dr. Velez said the polyp, which appeared unusual in someone so young, coupled with  the unusual  freckling on Melissa’s lips led her to suspect Peutz Jeghers Syndrome.
Peutz Jeghers is a rare genetic disorder that causes gastrointestinal polyps and is frequently found in conjunction with cutaneous pigmentation (freckling) of mucosal surfaces such as the mouth. It is also associated with a higher risk of gastrointestinal, gynecologic and breast cancers.

KCH pathologist, Dr. Krishna Reddy, confirmed that the polyp was not malignant. Dr. Velez urged Melissa to have genetic testing at the Center for Advanced Medicine at the University of Chicago Hospital, which later confirmed the diagnosis.

Melissa is the first in her family to develop this disorder. When she arrived at the Emergency Department she had no idea her pain would lead to emergency surgery and a diagnosis that would impact her health for the rest of her life. It’s been three years since the diagnosis, and Melissa now has two children.

“I look at life a little different now and don’t take things for granted. I know it’s not if I will get cancer, but that I will, just a matter of when.  But mostly my genetic testing effects me the most because I learned that my children have a 50 percent chance of developing the same condition,” she said.

Under normal circumstances the young mother of two would not need a mammogram until she was 40 or a colonoscopy until she was 50 years old.

“However due to her new diagnosis and the heightened risk of cancers it conveys, we can now monitor her more aggressively for the development of these cancers. Thanks to our health care system, she will be able to have her monitoring done in town including   mammograms, breast MRI, pelvic and physical exams every year. She also requires a  colonoscopy and small bowel study every two years,” Dr. Velez said.

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