A decade ago, when Tom and Danielle learned from doctors at Children’s Hospital of Philadelphia (CHOP) that their baby’s breathing difficulty was due to neuroendocrine cell hyperplasia of infancy (NEHI), a rare lung disease affecting infants, they were stunned.

“It was scary to learn her diagnosis,” Tom says, “but the doctor told us that if your kid has to have a rare lung disease, she’d pick this one.” Why? It’s not a progressive disease. Instead of worsening with time, children with NEHI improve and go on to live normal lives.  

That comment was spot on. Despite dealing with the effects of NEHI, Reese, now 10, is a three-sport athlete and a typical tween. “She can be a bit of a pain sometimes,” her dad says, laughing. “But it’s not the lung disease; it’s her age.” 

The path to diagnosis

When Reese was hospitalized for one respiratory illness after another — pneumonia, RSV, asthma — and typical testing didn’t reveal an overall cause, doctors thought she had a string of bad luck.  

Her symptoms mirrored those of common respiratory illnesses: rapid breathing (tachypnea), struggling to breath (retractions), popping or clicking breath sounds (crackles) and low blood oxygen levels (hypoxemia). 

“On the sixth or seventh hospitalization, one nurse wouldn’t let them discharge us without an answer,” Tom says.  

This time, Reese had a high-resolution chest CT scan, which required anesthesia to keep her still and a ventilator to control her breathing. The CT revealed lung tissue abnormalities that look like ground glass and evidence that air was getting trapped in areas of the lung, tell-tale signs of NEHI. 

“They showed me the scan, and I thought it looked like a mash-up of the Batman and Wu-Tang logos. But as soon as they saw it, they knew it was NEHI,” Tom says. 

What is NEHI?

Like most people, Tom and Reese’s mom, Danielle, had never heard of NEHI, which was only identified about 20 years ago. NEHI begins to cause symptoms in the first 6 months to 2 years of life. It is classified as a childhood interstitial lung disease, an umbrella term for the 200 or so rare lung diseases that impact children.  

NEHI was named based on the observation that children with the condition have more neuroendocrine cells in their lungs than normal, but how this leads to NEHI breathing symptoms and low oxygen levels is not fully understood. Research suggests that a combination of genetic and environmental triggers is likely involved.  

While there is no cure, children receive supportive treatment and most outgrow it as they mature. The team at CHOP has been studying NEHI, aiming to better understand the causes, to improve awareness for earlier diagnosis and to find effective treatments. 

Nothing slowing her down

Now under the care of Lisa Young, MD, CHOP’s Chief of the Division of Pulmonary and Sleep Medicine, and co-director of the Rare Lung Diseases Center, Reese takes an inhaler and uses supplemental oxygen at night and sometimes during rigorous activity. She wears a pulse oximeter when she sleeps to monitor her oxygen saturation levels in her blood.  

All this is routine now, and Reese connects herself to the equipment. “Now it’s second nature, like brushing her teeth before bed,” her dad says. 

She hasn’t let it stop her from active participation in softball, volleyball and basketball, following doctor’s orders.  

“Dr. Young encourages her to be active, saying that it’s good for lung development,” Tom says. Reese is currently on two different basketball teams. “She’s a good shot,” her dad says, “and she’s a big-time rebounder.” 

Tom keeps an eye on her during games, and if Reese's breathing becomes labored, the coach will sub for her for a few minutes. “That doesn’t stop her from thinking she’s Caitlin Clark,” the star professional basketball player, Tom says.  

Reese has learned breathing exercises to help her fully empty her lungs so she can take in more oxygen, and she uses them at times during games to help offset labored breathing. 

“I’m so proud of her and all her hard work in sports,” Danielle says. 

While sports are a big part of her life, she’s also a good student, now in fifth grade. She enjoys writing and art, especially. 

“Reese is very creative,” Danielle says. “I always look forward to seeing her art and seeing her ‘stories.’” 

On the lookout for complications

While her lung function has improved since her diagnosis, Reese still experiences some issues. 

“If she gets sick, it hits her harder,” her dad says. “If our 9-year-old son, Tom IV, gets a cold, he feels better in a day. If Reese gets a cold, it impacts her for three or four days, or longer.” 

Reese has more frequent visits with her primary care pediatrician, Matthew Wieler, MD, at CHOP Primary Care Roxborough, who listens for crackles. If her lungs sound worse than her baseline, it means a trip to CHOP Pulmonary or the Emergency Department for additional tests. She may need to be hospitalized if she requires a higher oxygen flow than she can receive at home. 

“She’s somewhat behind the normal progress for children her age,” Tom says. “By now, kids usually turn a corner and start improving faster. She’s on a plateau right now.”

Care at home

After her diagnosis, the family worked with CHOP Home Care to set up Reese’s oxygen needs at home. Over the years, the equipment has changed from liquid oxygen tanks that had to be delivered weekly to a more manageable oxygen concentrator, which operates on room air.   

With assistance from Pulmonary social worker Danielle Carlin, MSW, LCSW, Reese received a grant for a battery-powered portable oxygen supply that she can take with her to her many activities.  

“It’s especially helpful during long days of softball tournaments,” Tom says. “In between games, she runs to the car and get some oxygen — sort of like you see NFL players using oxygen on the sidelines.” 

Giving back

In 2019, the family started a foundation, Walk with Reese, to raise money to help other families with children who have pulmonary conditions that require frequent inpatient stays at CHOP. 

“All those hospitalizations when Reese was a baby were rough,” Tom says. “Danielle and I would both stay at the hospital with her, so there were meals to buy and missed work. It adds up.” 

The foundation provides meal vouchers for families and supports the Child Life, Education and Creative Arts Therapy Department, because Reese greatly appreciated child life activities.   

Reese personally gives back at the Houston Playground in Roxborough, which Tom manages for the Philadelphia Department of Parks and Recreation. She organized a story and art time for toddlers. “Reese picks a book at the library and figures out a craft they can do,” Tom explains. “It’s really cute.” 

“CHOP has done so much for Reese and our family,” Tom says. “We’re grateful and happy to be able to give back.” 

Danielle adds, “We want to thank everyone at CHOP, plus our family and friends, for their continued support of Reese.”