Patient’s family hopeful, with Norton Children’s help, to find answers for rare lung disease

Cora is one of a small number of infants diagnosed with surfactant protein C deficiency. Her family hopes research can find a cure for the lung disease.

Cora Anne is bright-eyed and all smiles during her pulmonology appointment at Norton Children’s. Only 4 months old, she’s already spent a good deal of her life in hospital rooms.

“As sick as she is, it’s crazy how happy she still is. She doesn’t let things bother her; she just smiles away,” said Alisha Sizemore, Cora’s grandmother. “Cora’s just so happy and has been since day one.”

Troubling symptoms

Alisha knew, shortly after Cora came into the world, that something was wrong.

“Right after she came home from the hospital, her breathing was off. She was breathing fast, kind of tugging and pulling as she tried to take breaths,” Alisha said.

Cora’s grandparents took her to an emergency room in their hometown of Marion, Kentucky, which is near the Illinois border. Cora eventually was sent home. Her breathing issues continued to worsen, and she started struggling to keep formula down. During her two-month checkup in December, it was discovered that Cora had only gained an ounce of weight since she was born.

Not long after, doctors determined Cora needed to be sent to Norton Children’s Hospital in Louisville for specialized care.

Getting a diagnosis

After Cora arrived at Norton Children’s Hospital, care teams began a running series of tests to find a diagnosis.

“There has not been an inch of this baby that has not been tested,” Alisha said. “There was around-the- clock care, several different teams coming in and working with her. It was amazing watching all of these specialists come together for Cora.”

After genetic testing, a chest CT scan and a lung biopsy — Cora was diagnosed with surfactant protein C deficiency, a type of childhood interstitial lung disease. The condition is also known by a shorter name:  chILD.

“Surfactant protein C deficiency is a rare lung disease which affects how well a patient’s surfactant works,” said Scott G. Bickel, M.D., pediatric pulmonologist with Norton Children’s Pulmonology, affiliated with the UofL School of Medicine. “It’s a very rare disease.”

Surfactant is an important soapy substance in the lungs. It helps lungs easily expand as needed for breathing, according to Dr. Bickel. The labored breathing caused by the disease also can cause babies like Cora to burn more calories than they take in, which is why she struggles to gain weight.

“In some children, symptoms may start at birth and be severe or even fatal, while other children may have milder symptoms,” Dr. Bickel said. “Many children with the disease will need long-term oxygen therapy and different types of anti-inflammatory treatments. There are currently no Food and Drug Administration-approved therapies specifically for this condition.”

Pediatric pulmonologists with Norton Children’s create a unique care plan for each patient based on their chILD diagnosis. Currently, Norton Children’s has approximately 20 patients diagnosed with some form of chILD. Goals for treatment include preventing further lung damage, preventing low blood oxygen, reducing strain on breathing and offering nutritional support to help promote growth.

Multiple specialist teams with Norton Children’s take part in caring for Cora, who is on oxygen support 24/7.  She also had a gastrostomy tube (feeding tube) placed, to help ensure she is getting enough nutrition.

Some children do see their symptoms improve as they get older. In a few years, as Cora grows and develops, doctors may try to wean her off supplemental oxygen.

Raising awareness

According to Dr. Bickel, the current lack of treatment options for surfactant protein C deficiency is largely due to the rarity of the disease. Norton Children’s pulmonologists caring for Cora are sharing her progress with other researchers in hopes her case can help lead to a better understanding of the condition.

Cora’s grandparents plan to continue sharing her journey, wanting to raise awareness of surfactant protein C deficiency, hoping for a better future for other kids who may face the disease.

“My hope is that eventually more doctors will be aware of surfactant protein C deficiency, so they know to look for it and find it earlier, and there will be enough research done to find a cure,” Alisha said. “We believe in the Lord, and he’s going to work miracles. And he’s going to use Cora’s voice to change the world.”