Danny is now 19 years old, but his mother, Amy, still remembers carrying him as an infant into the emergency room at Mass General for Children.”I was nursing him,” she said. “He started just spitting up and then throwing up. He didn’t want to eat, and he seemed distressed.”Dr. Allan Goldstein entered their room to examine Danny.”He pressed on his belly,” Amy said. “And his belly even in the ER started getting more and more distended, so I was freaking out. Like, ‘What is wrong?'”Goldstein knew the answer immediately.Danny had Hirschsprung disease.It occurs when nerve cells fail to develop in the large intestine.Without those cells, the large intestine is unable to detect or pass stool, leaving the bowel system paralyzed.”They get backed up,” Goldstein said. “They start to have vomiting or are unable to take food.”Danny’s parents were left with a life-altering decision to make for their son.He could wear a colostomy bag to collect waste long-term or have surgery to remove his entire colon.They chose surgery.”It was so terrifying,” Amy said. “Even though Dr. Goldstein kept saying, ‘He’s going to be fine. The surgery, he’ll be OK.’ But I mean, it is taking out a whole organ.”Even a successful surgery, like Danny’s, can create new problems.Without a colon, the body processes food and waste differently.”They can have accidents as a result of the disease and maybe also from the operation that’s required,” Goldstein said. “Their ability to control stool can be affected. Probably half the kids will have that problem well into adulthood.”It’s taken a long time for Danny to learn how to live with his anxiety.”Even now, at night, I’ll try not to eat past a certain time before school,” Danny said. “But growing up, especially with school and making friends and stuff, it was really tough because I missed a ton of school. I never went to sleepovers or anything because I was just so anxious about having to use the bathroom.”Today, Goldstein and his team are searching for a better option.They hope to use gene therapy to create nerve cells that do work to restore function to a colon that doesn’t.”That’s our hope right now,” Goldstein said. “There’s been great progress in isolating nerve cells, growing them in a dish, given them back to at least animal models that have the disease, and shown great benefit. The question will be, will that translate into a human trial?”It could take three years to launch a clinical trial for infants with Herschsprung’s, but Goldstein and his longtime patient are optimistic.The research has already received funding through the Gene and Cell Therapy Institute at Mass General Brigham.”If that could help kids not need the operation at all, I think that’ll be amazing,” Danny said.
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