Mystery Disease: Breathless
Trying to make sense of a sickness that robs kids of oxygen.
Dr. Robin Deterding is doing her best to get off the phone, but it’s not always easy when you’re responsible for other people’s capacity to breathe. She looks over and mouths a quick I’m sorry before speaking back into the receiver: Well, I mean, he’s growing normally, right? Good. That’s good. But, yes, I’ll take a look. I gotta go right now, though, OK? She hangs up the phone, apologizes again, and says, “So what can I tell you about kids who can’t breathe?”
Deterding is a pediatric pulmonologist and the director of the Children’s Breathing Institute and Interstitial Lung Disease Program at Children’s Hospital Colorado. She sees patients with a range of breathing-related issues—everything from asthma and cystic fibrosis to airway anomalies and pneumonia. But her phone rings often these days with questions about a disease she’s spent the last 16 years trying to decode: neuroendocrine cell hyperplasia of infancy (NEHI).
“Now I get calls from all over the world,” the doctor says, explaining that she’d recently spoken on the phone with someone in Finland. “But back in 1995, when we first began noticing patients with these symptoms, no one believed us.” No one believed, that is, that Deterding and her mentor, Dr. Leland Fan, were seeing a disorder that caused very sick babies and toddlers to breathe fast and require oxygen therapy—because when a lung biopsy was performed, nothing appeared to be wrong.
That didn’t sit well with Deterding; she knew something was causing these kids to be sick. Something other than asthma, a virus, or pneumonia—illnesses for which most of these children had been previously diagnosed and unsuccessfully treated. So Deterding and her colleagues began gathering lung tissue samples and sent them to a pathologist in Texas. The findings were surprising—and confusing. “These kids had too many neuroendocrine cells in their lungs,” Deterding says, explaining that those types of cells usually aren’t present after six months of age. “But to this day, we don’t know why they have these cells, or how the cells are involved in making the children sick.”
And the kids are very sick. They breathe 50 percent faster than most children their age. They experience poor weight gain. And they almost always require extra oxygen, sometimes until they are as old as six. The current treatments for the symptoms of the disease are limited to oxygen and a high-calorie diet. But Deterding and her colleagues are hoping to offer better solutions in the near future. “We’re collecting clinical material and working with the top scientists in the world,” Deterding says. “I think we have some good clues to figure this out.”