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Hirschsprung Disease: One Mother’s Story of Her Newborn’s Rare Disease

hirschsprung disease survivor, baby Lennox
Hirschsprung disease threatened Lennox’s life. But he’s healthy and happy now, thanks to UVA NICU & surgery experts.

Pregnant for the fourth time, Megan and James Watson felt pretty familiar with the ins and outs of having a baby. But Hirschsprung disease? They’d never heard of it.

Megan remembers being blindsided when Lennox was born. No one expects their newborn to have issues; but the shock was even greater for the Watsons, because it seemed like they’d received so much monitoring and care leading up to their son’s birth. Megan had been getting ultrasounds 3 times a week, due to an umbilical cord issue. “We knew he was small.”

Lennox weighed 4.7 pounds when he was born at 37.5 weeks. Despite his size, he seemed normal and healthy.

“He nursed right way. There was no indication that there was anything wrong.”

The Symptoms Begin

The next day, however, Lennox wouldn’t nurse. When he finally did, he spat up green bile. “I’d never seen it before, but I didn’t think anything of it,” Megan says.

“At midnight, when it happened again, another nurse happened to be in the room checking my stats and I told her he’d been spitting up this light green foam.” By 3 a.m., a head nurse told Megan her baby was NPO, or unable to be fed by mouth. “She told me, ‘I think he has an obstruction in his intestines, and we need to do an X-ray to figure out what it is.’”

Exhausted, Megan tried not to worry, knowing she needed to rest in case the news didn’t get better.

And it didn’t. That morning, their pediatrician told Megan and James that Lennox did in fact have a block in his large intestine. He would need to go to the NICU at UVA.

“As he was walking out the door, (the doctor) said, ‘I think he has Hirschsprung disease. Don’t look it up on the internet.’”

To which Megan said, “You know that’s the first thing I’m going to do!”

Next Steps at the UVA NICU

Two hours later, the UVA transfer team, NETS, for children arrived and began strapping baby Lennox into what Megan describes as a “sophisticated transfer safety box.”

Megan had to wait for her staples to be removed before she could follow him. Her husband, James, went with Lennox, and, though it took a certain amount of ferocity, Megan made it there by noon.

At first, the doctors didn’t have answers. “They told us it was an obstruction, that it looked like waste. It could be sticky poop, it could be cystic fibrosis, it could it be a billion things. He could get irrigated and be fine.” But for nine days, no one was sure of a diagnosis.

Those nine days were hard. Megan couldn’t nurse her infant, because he was still designated “nothing by mouth.” Meanwhile, the UVA team irrigated Lennox’s bowels and “scoped him up and down.” There was hope. It was possible that the obstruction was just sticky meconium, the fecal waste a baby produces in the uterus.

Looking back, Megan now knows that the green spit-up and the lack of a stool were two key symptoms of Hirschsprung disease (HD).

So, What Exactly IS Hirschsprung Disease?

Megan explains in a way that makes it clear she’s become something of an expert on the topic.

The colon is an active organ, lined with ganglionic nerve cells that help push out the waste. And when you have Hirschsprung disease, a portion of your colon is missing these nerve cells, so the waste gets stuck. Without intervention, this stool can back up and flood a baby’s body with toxins that can lead to death.

To determine if Lennox was indeed missing the crucial ganglionic nerve cells, doctors had to biopsy his large intestine.

The results were positive. Lennox had HD.

“Fortunately, it was just an inch and a half of his intestine missing the cells,” Megan says. In many ways, they had the best of the worst. “Some kids have total colonic HD,” she explains.

And it’s a rare disease that is still being studied. Megan went online to get answers and found that doctors are trying to find them, too. “Some journals said HD occurs 1 in 5,000, but others say 1 in 7,000. Some medical journals say it’s genetic, other say it’s not.”

One Mother’s Advice to Parents of Children with HD

  • Tread lightly on the internet: Megan recommends only reputable sites, not group chats and blogs, for researching rare conditions.
  • Ask until you’re absolutely clear on what the doctor’s saying. You’re your child’s only advocate.
  • Be flexible.
  • Ask about probiotics. They’ve been essential for Lennox’s gut health.
  • Follow the post-surgery care instructions – if you don’t think you’re doing it right, have the surgeon show you.

Decision Time

Sara Rassmusen, MD, and her team of pediatric surgeons spent time talking with Megan and James about the options. “We had a multidisciplinary decision-making process that included the NICU staff, surgeons, anesthesiologists,” says Rassmusen. “I remember vividly sitting with Megan in the NICU. I know she was scared.”

Normally, a baby with Hirschsprung disease has a pull-through surgery, which removes the unhealthy colon and connects the healthy parts. But Lennox was a very small baby. And a pull-through surgery takes 4 hours.

In the end, everyone felt Lennox would be better served with a two-stage operation: “Ostomy first, then the pull-through procedure when Lennox was older and bigger.”

The one-hour ostomy procedure bisects the intestines where the nerve cells stop and begin, ties off the part without nerve cells, and reroutes the colon to the outside of the body. Waste then leaves the body via a stoma, a surgically created opening.

“They showed us how to clean it, and within 24 hours we were home.”

Finally Coming Home

Taking Lennox home for the first time, Megan and James felt relief. “That felt like a very glorious moment. After the stress of being back and forth and caring for our other kids, it was nice to just be exhausted — spent emotionally and physically — in our own home.”

About the experience, Megan feels gratitude. “We were thankful people heard us. Thankful they didn’t talk to us like we were idiots. The doctors appreciated us asking intelligent questions and answered us intelligently. And no thinking, ‘I’m the doctor and you’re not.’”

For Megan, this respect and communication was key part of her experience as a mother of a sick infant. “The NICU nurses were fantastic. The pediatric team was really great at communicating. The only pediatric surgery of its kind in the area, people come from all over. I can’t say enough about the nurses and the surgeons, who were really great at communicating with us.”

The Pull-Through Surgery

Lennox went in for the surgery at 4 months old. The procedure removed the part of the intestine lacking nerve cells, connecting the healthy part to his anal opening. At that point he weighed 11 pounds, meeting the requirement of having a weight in the double digits.

Prior to the surgery, Megan researched as much as she could on babies and anesthesia.

“At the end of the day, I had to let it go and not be a control freak about the whole thing. I had to trust that this happens all the time, every day, and this is what they do and it will work out. Maybe he won’t invent the new version of the internet because he was anesthetized twice before he was 4 months old, but he’ll be OK.”

The surgery was a success. In Megan’s opinion, “UVA has fantastic pediatric surgeons with great expertise in children’s colorectal diseases.”

That wasn’t the end of the challenges. Within a month, Lennox was hospitalized two more times with enterocolitis —digestive tract inflammation — which occurs when you become constipated and your stool backs up. “His colon didn’t know how to tell his brain to poop,” Megan says.

Critical Care for Infants

Lennox’s recovery from Hirschsprung disease was made possible by several expert teams at UVA Children’s Hospital:

A Bright Future

Since then, however, Lennox has flourished. “He is fantastic. His pooper is working just fine. I never thought in a million years that I would be so happy or talk so much about poop.”

Lennox will need to eat healthy foods and exercise to avoid constipation, but otherwise, he’s developmentally right on track and should have a normal life.

“There may be some issues with potty training – but as I’m finding out with Xavier, my 2-year-old, that’s a boy thing,” she laughs. At that, Lennox comes crawling into the kitchen, bright-eyed and moving fast.

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