Crohn’s Disease and Turner Syndrome: Abigail’s Story

Abigail was small as a baby. “The doctors told me not to worry, she was just petite,” remembers her mom, Cynthia. As a toddler, Abigail started to have periodic bouts of diarrhea, and those became more frequent and intense when she was 2. For the next two years, Cynthia worked with her pediatrician and specialists to figure out what was wrong with Abigail, but tests showed nothing unusual.

“I would make her cakes, milkshakes, anything fattening,” Cynthia says. But at 4, Abigail was still very thin. She had dry skin and brittle hair. Cynthia made an appointment to see a different specialist, this time at Children’s Hospital of Philadelphia (CHOP).

Finding a diagnosis

Doctors did more extensive tests, including a colonoscopy and biopsy, and came back with a diagnosis of Crohn’s disease, a form of inflammatory bowel disease (IBD). They explained that the condition had no known cure, but that the symptoms could be controlled with medication and diet. Finally, the family had an answer for Abigail’s constant digestive issues. She was put on a nasogastric (NG) feeding tube to boost her nutrition intake, and started on a combination of an anti-inflammatory medication and a short-term dose of steroids.

The nutritional supplement and the medication succeeded in curbing Abigail’s diarrhea and bringing the inflammation under control. She started putting on weight and her growth resumed. She got used to the NG tube, and would wrap it around her pony tail to keep it from getting in her way. After a couple of years, she learned to change it herself. When she was 10, she had the NG tube replaced with a gastronomy tube (G-tube), which fed her nutritional formula directly into her stomach in a less visible way.

As a chronic condition, Crohn’s requires regular medical care, and Abigail became a long-term patient of the Division of Gastroenterology, Hepatology and Nutrition (GI) at CHOP. In her second year with CHOP’s GI team, her case was taken over by Robert N. Baldassano, MD, Director of the Center for Pediatric Inflammatory Bowel Disease, and Petar Mamula, MD, a Medical Fellow at the time who is now Director of the Kohl's GI Nutrition and Diagnostic Center. Dr. Mamula would be Abigail’s GI specialist for the next 17 years.

A complicated case

Crohn’s impacts patients in various ways, so it can be very difficult to identify the most effective way to manage the disease. Because there is no one set treatment or combination of treatments to manage symptoms; it can also take various lengths of time to discover the best way to manage the condition. Crohn’s can be serious for some patients, but milder for others. Patients also react to treatments in different ways.

Abigail’s condition turned out to be a complicated case. Her anti-inflammatory medication began to lose effectiveness over time, so her medical team tried other treatments. She started on an immunomodulatory when she was 7, but she had a negative reaction. A different drug proved to be effective for a few years, but eventually started to lose effectiveness as well. Her treatment was switched to the combination of an immunomodulatory and a biologic drug, which has been her treatment for Crohn’s ever since.

When Abigail was in the sixth grade, another complication was discovered. Abigail had developed strictures, a narrowing of portions of her intestine. Surgery was done by Michael L. Nance, MD, FACS, FAAAP to correct the problem, and additional surgeries were needed in each of the next three years to fully resolve the issue.

Abigail was also diagnosed with Turner syndrome, a chromosomal disorder associated with stunted growth and other health problems. Her medical team expanded, and she was put on growth hormones. CHOP takes a multi-disciplinary approach to care, and her providers coordinated with one another.

Coping emotionally

In addition to the medical treatment, Abigail found support in social connections and behavioral health therapy. She attended Camp Oasis for several summers, a week-long summer program for kids with different forms of IBD, and the experience helped her feel less alone with her disease. Therapy helped her deal with feelings of anxiety and depression. Abigail recommends therapy to other young IBD patients who have emotional reactions to the disease.

Now 22, Abigail has transitioned to an adult GI specialist recommended by Dr. Mamula. She’s working now, and enjoys long walks, swimming, trips to the beach and the companionship of her dog.

Abigail and Cynthia give great credit to Dr. Mamula for getting them through the complicated course of the disease and for being so available whenever they needed him. Abigail continues to keep in touch with him.

“abigail loved dr. mamula. she never saw anyone but him. and he always responded when we had questions.”