Crohn's Disease: Will's Story

When Will was 6, his parents, Amy and Walt, noticed blood in his stool. His pediatrician began a series of stool tests to figure out what was causing the bleeding. At first, he thought it might be a virus that would clear up within a few days. Will didn’t act sick and wasn’t in any pain, but he began to make more frequent trips to the bathroom and to have diarrhea filled with blood and mucous.

Will was getting worse, and his stool studies were negative, so the pediatrician advised his parents to immediately take him to the emergency room at Children’s Hospital of Philadelphia (CHOP).

Amy remembers the call like it was yesterday. “He said, ‘Something is seriously wrong. You need to go right to the emergency room and do not leave without being seen by a gastroenterologist.’” When the attending gastroenterologist saw the stool, heard the history of his intensifying diarrhea, and reviewed the lab results, he knew that Will had a serious health problem.

“He told us that he believed Will had inflammatory bowel disease (IBD),” Amy remembers. “I asked what that was and he said that it could be Crohn’s disease or ulcerative colitis. He explained that there was no cure, but that it could be managed with medication. Hearing the doctor tell you that there was no cure was terrifying. I was in complete shock. Our world was changed forever that night.”

Will was admitted to the Hospital, where the family met with Dr. Petar Mamula, MD, an attending physician at the Center for Pediatric Inflammatory Bowel Disease (IBD) and Director of the Kohl's GI Nutrition and Diagnostic Center. Over the next few days, Dr. Mamula ran a series of tests, including an endoscopy and colonoscopy, which led to the official diagnosis of IBD. Unable to definitively classify Will’s condition as either Crohn’s disease or ulcerative colitis, he gave an initial diagnosis of indeterminate colitis.

“I knew when I saw Dr. Mamula’s face coming out of the OR that it wasn’t good,” says Amy. “I had been holding onto that last thread of hope that it wasn’t IBD.”

A complicated case

Treating IBD can be challenging and complicated. Patients are affected in very different ways — it can be serious for some patients, but milder for others. Depending on the individual, IBD can also sometimes affect other parts of the body. There is no one set drug, treatment or combination of treatments to manage symptoms for patients, so it can take various lengths of time to test and discover the most effective treatment.

Over the next year, Will’s condition would prove to be complicated and difficult to bring under control. Dr. Mamula tried him on different types of treatments including 5-aminosalicylic acid (5-ASA) medications, a biologic immune suppressant, and doses of an immunomodulator. Nothing seemed to work — all of the treatments had little effect or caused a flare-up.

“We were running out of options,” says Amy. “As a parent, you worry not only about the cost of each medication and being able to get access to the drug, but most importantly about the side effects it may bring. With each new medication, we held our breath that Will would respond positively and that this would be the ‘one’. Not only did we need it to alleviate his symptoms; we needed it to actually heal him on the inside.”

A little over a year after his diagnosis, Will was admitted to CHOP for what would be a five-week stay. “He was so sick, he couldn’t get out of bed,” Amy recalls. “And this time he was in so much pain. He was in and out of the bathroom every few minutes in the middle of the night.” She put him in the car at 2 a.m. and drove to CHOP. Will would need a blood transfusion during this stay and was given heavy doses of IV steroids. But he still wasn’t getting any better.

“I remember feeling so hopeless that I couldn’t take the pain away from my son,” says Amy. “He spent weeks in a hospital bed and nothing was changing. He would look up and tell me he knew he was going to be OK — he was reassuring me! I remember looking out the window many days and seeing the ‘Hope lives here’ sign.”

“I kept telling myself that they are going to get him better. I knew he was in the best hospital in the country.”

An experimental ‘rescue drug’

Dr. Mamula had run through the arsenal of IBD treatments, but he was determined to find a treatment that would help Will. Dr. Mamula discussed Will’s case with a panel of specialists, and one of the doctors suggested a medication in clinical trials for treating IBD. Although the medication was typically used for organ transplant patients to prevent rejection, it had been used with some success on children with IBD as a short-term “rescue drug” — a medication given to help severely sick patients when other options weren’t working.

Dr. Mamula presented the recommendation to Amy and Walt. “There was no hesitation,” says Walt. “If there was a chance, we were taking it to get Will better.”

“I just wanted to get Will better so our family could be back together again,” says Amy. “And it worked. Within a day of his first dose we saw a response. It was a miracle. That drug saved my son and gave him his life back.”

Will was released the following week. He returned to school and had to catch up with tutoring over the summer, but he was healthy again. He stayed on the medication for the next two years. During this time, some changes in his lab results led Dr. Mamula to order a video endoscopy. The test revealed ulcers in his small bowel, which changed his official diagnosis to Crohn’s disease.

“Will was feeling so well,” says Amy. “When we were told he had Crohn’s disease, I was devastated. It was tough to learn that the rescue drug wasn’t enough. We would need to add another medication. How could Will look and feel so great on the outside and at the same time have dozens of ulcers inside of him?”

While the rescue drug controlled his symptoms and had healed his large intestine (where the inflammation had first appeared), it wasn’t a long-term solution. Over time, Dr. Mamula noticed that the medication was beginning to hurt Will’s kidneys. After discussion among the doctors on the panel of specialists, he took Will off the rescue drug and continued treatment with an immunomodulator.

“It was hard to hear that the drug that had given our son his life back for two years needed to be stopped right away,” says Amy. “It was like they were telling me to leave my son in the middle of the Atlantic Ocean with no life jacket. But thankfully, his kidney function went back to normal in time, and his disease stayed under control with the change in medication.”

Growing normally again

Now 12, Will has been on the same immunomodulator ever since. In addition to his medication, he has some restrictions on his diet. While he is not in remission, his symptoms are all under control and manageable. Will continues to hit all normal developmental milestones, and he’s in the middle of the curve for his age for both his growth and weight.

Crohn’s doesn’t stop Will from enjoying his passion — basketball. Will and his twin brother, Andrew, both love the sport and are talented players. Will makes three-pointers look easy in games and is unbeatable at the foul line. He was the New Jersey state champion in the free-throw competition at 11, and repeated the feat when he was 12.

Will does well in school, and is on the honor roll. He particularly loves science. Inspired by Dr. Mamula and the team at CHOP, he is very interested in medicine and would like to be a doctor one day. Dr. Mamula has encouraged Will’s interest, and even gave him a tour of an operating room.

“Although Will’s case is complicated, he’s a healthy Crohn’s patient,” says Amy. “We realize things could be a lot worse, and we are lucky he does so well. I can’t say enough good things about CHOP. Dr. Mamula and his team worked quickly to make a diagnosis and begin treatment. They didn’t give up when one treatment failed and a different approach was needed. And Will feels very comfortable at CHOP. Every time I see Will out on the court I know that we wouldn’t be here without the great care from Dr. Mamula and his staff.”

“It has been a long journey,” says Walt. “We are in a really good place right now. We’ve learned that with his disease there will be periods of remission, periods where the disease is active.”

“But we feel safe at CHOP because we know that they will take good care of Will because they are the leading center for IBD care in the country.”

Will understands how important it is to participate in research studies to find better medications and ultimately a cure to his disease. Will’s twin brother Andrew recently said, “Maybe by the time Will goes away to college he will be cured so he doesn’t have to take his pills anymore.” Amy and Walt share that hope. They support ongoing research on improved treatments and, ultimately, a cure for IBD.