Inflammatory Bowel Disease (IBD): Makenzie’s Story

Makenzie suffered a terrifying illness when she was 7, a rapid decline in which she lost a quarter of her weight. Now 9, Makenzie has come out the other side of an 18-month health crisis. With treatment at Children's Hospital of Philadelphia (CHOP), the 9-year-old is now back to her healthy, happy self.

At Christmas, the year she was 7, Makenzie was a normal little girl. Then she started to get a rash around her mouth and cold sores inside her mouth. By New Year’s Eve, she wasn’t eating.

Her mother, Jalene, took her to a walk-in clinic where she was diagnosed with hand-foot-and-mouth disease, a viral illness. The prescribed antibiotics cleared up the sores, but four days later, Makenzie started having stomach pains. She also had a fever and was vomiting.

Jalene made an urgent appointment with her pediatrician. After examining Makenzie, he said they shouldn’t worry and the illness just needed to run its course. Five days later, she was still vomiting and feeling nauseous. The fever hadn’t come down and she had diarrhea. In the 10 days since the sores had first appeared, she had lost 10 pounds, dropping from an already light 48 pounds to 38.

Emergency surgery

Jalene couldn’t wait any longer. She took Makenzie to the emergency room at the local hospital, in Binghamton, New York. She had a computerized tomography (CT) scan performed and her doctors thought they saw blockage in her intestines. They transferred her to a children’s hospital in upstate New York.

There, doctors started giving Makenzie nutrients and antibiotics through a peripherally inserted central catheter (PICC line) — a tube that feeds directly into a patient’s bloodstream. In reviewing the scan imagery, the medical team saw no blockage, but did see signs of inflammation. They took new X-ray images to check the placement of the PICC line, and these showed a new and more serious problem. There was air in Makenzie’s abdomen, a sign of a perforation (or hole) in her digestive system.

She underwent emergency surgery to find and repair the perforation. The surgeon found her colon to be severely inflamed. She described it to the parents after the procedure as largely “necrotic” (dead tissue) and “disintegrated.” The repair turned out to be more drastic than anticipated: most of Makenzie’s colon was removed and she was left with an ileostomy — an opening that attaches to a bag to drain digestive waste from the lower intestine.

Microscopic examination of the removed colon tissue showed granulomas — tiny collections of cells formed in response to infection or inflammation — which the doctors explained to the family was an indication of Crohn’s disease. They started her on steroids.

In two weeks, Makenzie had gone from a healthy, happy child to a very sick little girl with an incurable disease, an ileostomy and a medical treatment plan that carried risks of serious side effects. Her parents were stunned. Their response, while trying to make Makenzie as comfortable as possible, was to research the condition and its treatment.

Discovering Children’s Hospital of Philadelphia

Makenzie was showing no signs of improvement. Her stomach pains and nausea were getting worse.

“That’s when we found out about CHOP,” says, Jalene. The more they learned about inflammatory bowel disease (IBD) and Crohn’s disease, the more convinced they became that Makenzie needed to go there.

Two weeks after her surgery, the family’s insurer and medical team agreed that she needed the care of IBD specialists at CHOP. Arrangements were made to transfer her by air to Philadelphia.

At CHOP, Makenzie was put under the care of Judith R. Kelsen, MD, Director of the Very Early Onset Inflammatory Bowel Disease (VEO-IBD) program. Dr. Kelsen examined Makenzie and looked at the tissue sample from the colon surgery together with the pathologists at CHOP. They did not see evidence of granulomas, a mass of granulation tissue which is commonly produced in response to inflammation or infection.

Makenzie was clearly very sick with a form of IBD, similar to Crohn’s disease, but she recommended a different path for treatment. She immediately took Makenzie off the steroids and instead prescribed a combination of antibiotics.

Pablo Laje, MD, an attending pediatric surgeon, also joined Makenzie’s medical team. An endoscopy at the children’s hospital in upstate New York just before Makenzie had been transferred to CHOP had accidentally opened the incision from the surgery, making her very sick. Dr. Laje closed the opening.

Makenzie began to respond almost immediately to the new treatment. After seven days at CHOP, she was well enough to go home, and she gradually regained her weight and her strength.

Mackenzie’s journey

Over the next 16 months, Makenzie had some additional issues, such as blockages in her intestines, sending her back to the emergency room several times. The prior surgery in New York, in which much of her colon was removed, resulted in sections of her intestines adhering to the inside of her abdomen (abdominal adhesions), causing constrictions and blockages.

The problems were resolved in April 2016 when Dr. Laje performed the surgery to remove Makenzie’s ileostomy and reconnect her lower intestine with the remaining portion of her colon. As part of that procedure, he also cut the adhesions.

Makenzie began to feel better fairly quickly after that surgery. She was back at school 10 days after the procedure. By May, she had the stamina to rejoin her softball team. She limited her play at first, but stayed in games longer as the weeks went by. By early summer, she was her old self again — singing, dancing, making music videos and enjoying time with her friends. Makenzie is a cheerful young girl, and she makes people around her happy with her big smile and sense of humor.

Makenzie returns to CHOP for monthly infusions of Remicade, a synthetic antibody used to treat autoimmune diseases, including some forms of IBD.

“CHOP is amazing. from the world-class doctors to the nurses and the cafeteria staff, they are all so caring and knowledgeable. makenzie loves chop. she knows the doctors there saved her life and restored her quality of life. it's hard to put into words how grateful we are to them.”