Helping Christian thrive with rare gastrointestinal disease

Thankfully, she had an excellent medical resource available right in her hometown of Oshkosh, Wisconsin – the Aurora Children’s Health Clinic – which is also an outreach clinic for Madison-based UW Health pediatric specialists. It wasn’t long before Kellie received a diagnosis of her son’s condition from Dr. Dan O’Connell, a UW Health pediatric gastroenterologist who sees patients from the Fox Valley at the Oshkosh clinic twice a month. Christian, as it turns out, is one of the very few – 1 in 100,000 people – with a genetic gastrointestinal disease called Juvenile Polyposis Syndrome (JPS). 

JPS is a chronic condition caused by a genetic mutation in which polyps or growths develop in the colon. The symptoms of JPS, such as bloody stools, pain, constipation or diarrhea for more than a week, are present with many other conditions, but sophisticated testing available at UW Health’s American Family Children’s Hospital in Madison allowed physicians to pinpoint the problem.

“There are a wide variety of what we call polyposis syndromes that are usually hereditary,” says Dr. O’Connell. “With more detail in our genetic testing, we get a better diagnosis. Juvenile Polyposis Syndrome is a rare syndrome that can run in families, but there can also be new mutations that are not present in any other family member, as in Christian’s case.”

“Juvenile” refers to the type of polyp, not the age of the person diagnosed, and while the polyps themselves aren’t cancerous, those with JPS are at higher risk of developing colorectal cancer. If left untreated, polyps can grow quite large and cause painful bowel obstructions.

Madison care team is like extended family

Since that first appointment with Dr. O’Connell in late 2018, Christian and Kellie have made multiple trips to Madison for advanced diagnostic and therapeutic procedures at American Family Children’s Hospital. 

Though scoping procedures and colonoscopies to monitor and remove polyps are routine for patients with JPS, Christian had some unexpected complications that required extended hospital stays, including surgeries to resect his colon and remove his gallbladder.

Dr. O’Connell and other pediatric gastroenterology team members have become part of Christian’s extended family. 

“Despite some pretty traumatic experiences,” Kellie says, “Christian still loves the hospital. When I told him we needed to go back to Madison for another surgery, he jumped up and down and shouted, ‘Yay!’”

Child Life therapists played a big role in making the hospital experience less scary – and even fun – for Christian. When Christian feared getting his first IV poke, the Child Life specialist explained the process and brought him a bear with an IV so he could have a friend with him.  Adding to his collection of Legos, friendly nurses, pancakes for dinner, “Minions” movie viewings, and one-on-one time with mom also make the hospital stays special. 

Doctor’s ability to make children feel comfortable is key

Christian will deal with chronic illness his entire life, but the long-term relationship with his care team, especially Dr. O’Connell, makes all the difference to his well-being. 

“Christian is always excited when he sees Dr. O’Connell, because he has always gone above and beyond to help Christian feel comfortable, well-informed and cared for,” says Kellie. “Even when Christian was just five, he always made a point to begin each visit talking directly to Christian and asking, ‘What do you think about this?’ and ‘Do you have any questions?’”

Dr. O’Connell enjoys the challenge of working with patients of all ages and stages of development.

“Asking questions directly of the child with parents in the room is important, especially with younger kids who can add insight into what the parents see,” says Dr. O’Connell. “How each patient perceives and interprets how their body feels at every age is really important to my decision-making, and parents are sometimes surprised by what they hear from their child. It’s a partnership with parents to work toward the best outcome for their child.” 

It’s a partnership Kellie deeply appreciates. “Dr. O’Connell wants to know how I’m feeling, too,” she says. “It’s hard when you’re a parent, since you don’t have the training or experience. I’ve taken it upon myself to learn anatomy starting with the GI system so I understand what’s going on.” 

When the preparation for procedures led to difficult side effects for Christian, such as low blood sugar, dehydration and severe nausea, Dr. O’Connell worked with Kellie to make the clinic appointments and procedures as “Christian-friendly” as possible.

UW Health team knows that kids don’t like surprises

Understanding what’s happening at each visit has also helped Christian.

“He really likes to know what's going on and what they are going to do next,” Kellie says. “The nurses are all really good in telling Christian,  ‘This is the tape,’ or ‘This is going to be wet,’ and ‘This won't hurt,’ or ‘This will have a pinch’, and that really helps a lot.” Christian also loves to show his favorite souvenir from the hospital – a pill camera that traveled throughout his digestive system.

Dr. O’Connell reflected, “You can see the resilience Christian has built as he’s had a difficult diagnosis and how Kellie has built her knowledge and been a great advocate and partner in his care.”

Looking ahead, the focus will always be on making Christian’s quality of life as normal as possible.

“JPS is a life-long condition, but we were able to catch it early,” says Dr. O’Connell. “We’ll continue to monitor Christian and keep a close eye on things to prevent any complications,” It’s really about quality of life. Our goal is to make sure he has as normal digestive function as possible to limit the impact on his day-to-day life. We’ve been able to preserve that and are addressing nutritional issues.”

Dr. O’Connell is one of many UW Health physicians who travel throughout Wisconsin and Illinois to provide regional care.

“Regional outreach helps us serve kids around the state which is especially important for patients with rare conditions who need care from experts. The physical distance of our hospital can be a barrier for families,” he says. “We come together with other healthcare systems to provide specialized children’s care because smaller communities typically lack local access to pediatric specialists more commonly found in larger cities. Our doctors really enjoy the work. Seeing the gratitude from patients and families makes the care rewarding.”