A Family History of Triumph Over Hirschsprung Disease

Hirschsprung disease has taken a lot away from Amy Ziegler and her family. But it also has given them the precious gifts of inner strength, determination and a belief that together they can conquer anything. And Cincinnati Children’s Hospital Medical Center has been there every step of the way.

Hirschsprung disease is a disorder of the colon (the first section of the large intestine) in which ganglion nerve cells are absent. Ganglion cells are responsible for pushing feces through the colon to the rectum. Left untreated, the disease causes fatal intestinal blockage, but even with treatment sufferers can experience chronic constipation, infection, dehydration and intense pain.

Two of Amy’s brothers died of Hirschsprung disease before she was born, and Amy was diagnosed with “long segment” Hirschsprung disease involving most of her colon soon after delivery.

She underwent surgery to remove her colon when she was two days old. Five months later, Amy’s family moved from southern Kentucky to Cincinnati in order to be closer to Cincinnati Children’s.

By the time she was 17, Amy had undergone 40 surgical procedures to manage the disease. While she no longer requires regular medical care for Hirschsprung disease, Amy does need to be careful about her diet and limit her exertion level to avoid symptoms such as dehydration and constipation.

Home Remedies, and an Uncertain Future

After Amy married, she had her first daughter, Jessie, who didn’t show any signs of Hirschsprung disease. But Amy’s second daughter, Sarah, had severe constipation from the day she was born. “My mother knew right away that Sarah had Hirschsprung disease — she’d been through so much with the disease,” Amy recalls. “But our doctor couldn’t confirm it. Back then, the medical community believed the disease couldn’t be passed down from mother to daughter. I ended up treating her constipation on my own, with prune juice, rectal massages and suppositories.”

Amy’s youngest child, Rachel, was born a year after Sarah, and except for occasional constipation, seemed healthy. When Sarah’s condition didn’t improve over time, Amy became increasingly worried. By then, the family had relocated to Virginia. Not satisfied with the advice she was receiving from doctors there, Amy decided to bring Sarah to Cincinnati Children’s to have her tested for Hirschsprung disease. The tests came back positive. Sarah was diagnosed with the “long segment” form of the disease.

Surgery for Sarah

Cincinnati Children’s surgeon Fred Ryckman, MD, discussed a treatment plan with Amy. The first step was to create a temporary colostomy to connect Sarah’s colon to the surface of her abdomen. This gave Sarah’s colon a much-needed rest, allowing her body to eliminate waste into a bag rather than through her rectum. Amy and her family returned to Virginia, coming back to Cincinnati Children’s for follow-up visits.

Three months later, Dr. Ryckman performed a “pull-through procedure,” which involved reversing the colostomy, removing the diseased section of Sarah’s colon and connecting the remaining colon to her rectum. While not a cure, the pull-through would allow Sarah to eliminate waste normally.

The surgery itself was a success but complications set in, including infection, intestinal blockage and leakage from the colon into the abdominal cavity. Over the course of the next eight months, Sarah was hospitalized repeatedly and underwent about 20 procedures, many of them surgical and others involving colonoscopies to monitor her condition. The stress became overwhelming.

“I remember one night I just slumped down to the ground and told my sister that I couldn’t keep doing this, I couldn’t see my child suffer like this,” Amy recalls. “She looked me in the eyes and said: ‘Yes, you can. I believe in you!’ That was a transformational moment for me. I never felt defeated by Hirschsprung disease again. In fact, my survival gives my daughters hope that they can always live life to the fullest. Together, we feel like we can overcome any challenge.”

Rachel’s Hirschsprung Diagnosis

That was a stressful year for the Ziegler family. They moved to Cincinnati and Sarah began first grade. Shortly thereafter, Amy had Rachel tested for Hirschsprung disease, and the results came back positive. Thankfully, her condition is far less severe than Sarah’s, and a pull-through procedure at Cincinnati Children’s was sufficient to manage her symptoms.

Today, Sarah and Rachel try not to let Hirschsprung disease slow them down. Sarah, 14, enjoys playing basketball and dancing, and is hoping to work in the medical field someday. Rachel, 13, runs cross-country and is a gymnast, with plans to become a marine biologist.

Sarah has undergone five additional surgeries for Hirschsprung disease. Both girls have to be careful not to over exert themselves on hot, humid days, since doing so can lead to symptoms such as dehydration, heart palpitations and migraine headaches.

Celebrating Life Everyday

Sarah and Rachel remain grateful to Cincinnati Children’s for helping their family thrive despite Hirschsprung disease. “Everyone at Cincinnati Children’s always did what they could to make me feel comfortable,” Sarah recalls. “I remember the nurses playing Barbies with me, and helping me wrap Rachel’s birthday presents when I was hospitalized. One time, a doctor came into my room wearing a surgical cap, and I told him I didn’t like it. From then on he always took it off before coming to see me.”

Rachel’s memories of Cincinnati Children’s are equally positive. “The doctors were always so kind and cautious,” she says. “If they had bad news, they always made sure to tell my mom privately so she could find the right words to tell us. But if I had questions, they would answer me directly — not just talk to my mom like I wasn’t there. They really cared about me, like family.”

Amy continues to marvel at how well she and her daughters are doing. “Hirschsprung disease has always been part of our lives, but we’ve been able to grow and learn from it. It’s part of us, but it doesn’t define us or slow us down,” she says. “We celebrate life in this family, that’s for sure!”