Sofie and Finn’s story: Not letting Hirschsprung’s disease slow them down

Elizabeth was living in Australia when she had her first baby, Finn. They left the hospital just a few hours after he was born, and Baby Finn had no problem feeding – at first. But later that day, he lost interest in eating, wouldn’t latch and seemed uncomfortable.

Elizabeth called her midwife who said it was probably a feeding issue. But that didn’t seem right, because he’d had no problem feeding the day before. So Elizabeth took him to the ER.

“He started deteriorating throughout the day and I was completely lost,” Elizabeth says. “When his belly started to swell and he still hadn’t pooped, they finally started thinking something was seriously wrong.”

That hospital called an ambulance that rushed them to a larger hospital an hour away. There, they ran a test to see if Finn was missing important cells that help move poop through the colon.

“I spent most of the day in the ER not even 24 hours after giving birth,” Elizabeth says. “And that was my introduction to Hirschsprung’s disease.”

A mother’s instinct leads to a second diagnosis

Without the cells that help move poop along the colon, babies with Hirschsprung's disease need specialized care in the first days of life to be able to poop.

Finn had an initial surgery to remove a section of his colon and to create an ostomy, an opening that allows waste to leave the body. Then he had a pull-through procedure, which connects the healthy part of the colon to the anus. Even after the pull-through procedure, most kids with Hirschsprung’s will need ongoing care, such as laxatives to help with constipation or enemas to help them empty their bowels completely.

Hirschsprung's disease can run in families, but it’s not common. When Elizabeth’s daughter, Sofie was born she told the care team: I’m not leaving this hospital until she poops. They waited a while, then said if she didn’t poop by a certain time they would do the test.

That test came back positive.

“I just remember thinking: I’m sure I can do this with two, but holy cow it’s going to be hard,” Elizabeth says. “As a mom, you feel responsible for everything, and I knew she’d have to go through pain and procedures and surgeries.”

Finding a care home at Children's Health℠

That feeling of responsibility is something the care team hears often and addresses early.

“We often tell families with Hirschsprung’s that there’s nothing you did to cause this and there’s nothing you could have done to prevent it,” says Sharon Kluger, APRN, Nurse Practitioner at Children’s Health.

Elizabeth and the kids first met Sharon after moving to Texas and they came to Children’s Health for a complication called Hirschsprung's-associated enterocolitis.

“Hirschsprung's-associated enterocolitis may look like a stomach bug at first, but it can progress very quickly and kids get very sick,” Kluger says.

Both kids were admitted to Children’s Health where Kluger took the time to walk Elizabeth through what was happening and answer all of her questions.

“We just love Sharon [Kluger]. She takes the time to listen and make sure you understand everything," Elizabeth says. “At some hospitals, you get treated like just a bed or a number, but not with Sharon.”

Doing all the activities (with a few more potty breaks)

Kluger also helps Sofie and Finn with constipation and better bowel control through Children's Health Bowel Management Program.

“Hirschsprung's affect different kids in different ways,” Kluger says. “Some do great and some have ongoing challenges, but we work together to find strategies that work for each kid. The goal is to have kids be socially continent (stay clean in regular underwear) and do everything their peers do.”

Sofie (left) and Finn (right) don’t let Hirschsprung’s disease keep them from being active and enjoying their childhood.

Now 8 and 6, Finn and Sofie do online school because it can be challenging to go the whole school day without bowel management support from their mom. But they hope to go to in-person school when they get a little older.

“Those early years are when kids are most prone to having that infection of the bowel. It may also take longer for kids to get the hang of potty training,” Kluger says. “But function generally improves as kids get older.”

Elizabeth is a strong believer in not letting her kids’ medical diagnosis and care stop them from doing things they enjoy. Finn loves Legos while Sofie is a budding artist. Both kids are excited to start playing soccer. And they also love exploring Dinosaur State Park, where they often go for hikes, look at dinosaur footprints and learn about fossils.

“It’s easy to get worn out with all the medical stuff, but we try to make time for the things we enjoy because that’s what being a kid is all about," says Elizabeth. "We can do all the activities any other family can do – we just take a few more potty breaks.

Learn more

The Children’s Health Colorectal and Pelvic Center offers comprehensive care for kids of all ages. Our Bowel Management Program helps kids gain bowel control, independence and confidence, and offers a number of resources including support with diet, mental health and 504 plans for school accommodations. We’re here to support kids and families from birth through young adulthood. Learn more.