Published: December 16, 2024

Everleigh Johns is a miracle baby. She has an extremely rare genetic condition, but it wasn’t an easy or clear path to reach her diagnosis. For months, her care team never stopped treating her symptoms while searching for answers — until a special genetic test would finally reveal the cause of Everleigh’s struggles. By the time she was diagnosed with Turnpenny-Fry syndrome at around 6 months old, Everleigh’s doctors knew of just over a dozen other cases in the world.

A long journey in the neonatal intensive care unit (NICU)

Ever since Everleigh was born six weeks prematurely on April 19, 2023, she has faced enormous medical challenges, including long hospital stays, numerous surgeries and puzzling questions about her condition.

Before she was born, Everleigh wasn’t growing properly, and doctors with Norton Children’s Maternal-Fetal Medicine noticed inadequate blood supply to the umbilical cord.

“They told me from the beginning that she was going to be premature, and we would probably have a long NICU stay,” said Caitlyn Johns, Everleigh’s mom. “At 33 weeks, she came early, weighing just over 2 1/2 pounds, and she had two teeth!”

Everleigh was born with heart issues and couldn’t breathe on her own. She needed a tube inserted to help her breathe, and a feeding tube (G-tube) for proper nutrition and hydration. Everleigh would have to spend 105 days in the NICU at Norton Children’s Hospital. Her mother, Caitlyn, couldn’t hold her daughter for the first two weeks of her life.

During the monthslong NICU stay, a multidisciplinary team addressed Everleigh’s numerous health issues, including an abnormal heartbeat — supraventricular tachycardia (SVT) — and a congenital heart condition known as patent ductus arteriosus (PDA). Edward S. Kim, M.D., pediatric interventional cardiologist with Norton Children’s Heart Institute, performed the PDA closure procedure, which improved blood flow to Everleigh’s lungs and allowed her to breathe on her own. Soham Dasgupta, M.D., pediatric electrophysiologist and cardiologist with Norton Children’s Heart Institute, addressed Everleigh’s SVT in the NICU and remains her family’s cardiologist to this day.

Although she was breathing better, Everleigh still couldn’t feed enough on her own and often would get sick. Pediatric general surgeon Tiffany N. Wright, M.D., with Norton Children’s Surgery, performed a Nissen fundoplication, a procedure that tightens the connection between the stomach and esophagus to help treat severe acid reflux.

Finally, in August, 3 1/2 months after Everleigh was born, she got to go home with her family. But that relief was short-lived.

“I always knew in my heart, something wasn’t right,” Caitlyn said.

Uncovering a medical mystery

Just a few weeks after going home, Everleigh stopped breathing after vomiting, prompting another medical emergency. Readmitted to Norton Children’s Hospital in the pediatric intensive care unit, she was under the care of Amy L. Holthouser, M.D., pediatric hospitalist with Norton Children’s Inpatient Care. She would become one of Everleigh’s greatest supporters.

Everleigh’s care team, including Dr. Holthouser and another Norton Children’s Inpatient Care hospitalist, Rebecca M. Callahan, D.O., listened to Caitlyn when she insisted something further was wrong with Everleigh. They assured Caitlyn that they would keep looking for answers. Caitlyn continued to advocate for Everleigh, and her doctors worked together with multiple specialists for additional explanations for the issues she was experiencing. Dr. Callahan consulted the genetics team, which recommended additional testing for rare disorders that could present with differences in anatomy and development. 

Everleigh showed several symptoms that pointed to a possible genetic condition: She was small before birth and continued struggling to grow. Her facial features were distinct, in addition to having shorter leg bones, a smaller chest, low muscle tone and a large head for her size. She was referred to Norton Children’s Genetics Center, where Kelly E. Jackson, LCGC, a licensed certified genetic counselor, discussed rapid exome sequencing with Caitlyn. This advanced genetic test can provide results in less than two weeks.

“We offer rapid exome sequencing for inpatients quite frequently, as it can help shorten the hospitalization when it is understood what the underlying cause [is],” Kelly said.

Within 10 days, the mystery was solved. The test results revealed Everleigh has Turnpenny-Fry syndrome, an extremely rare genetic condition.

“Turnpenny-Fry syndrome was first described in 2018. At the time, only 13 cases had been reported worldwide,” Kelly said. “This condition is linked to a mutation in the PCGF2 gene, which plays a crucial role in regulating gene expression.”

Everleigh has all the main symptoms of Turnpenny-Fry syndrome, which include distinct facial features, developmental delays, heart and skeletal abnormalities, and smaller-than-average size at birth and throughout life. Characteristic facial features include a bulging forehead; sparse, slow-growing hair; and small, low-set ears.

Although Everleigh will face lifelong medical issues, her diagnosis finally yielded answers about her medical struggles, providing her care team with valuable insight for managing her condition. It also allowed her mother to connect with resources, including early intervention programs that address developmental concerns, and with online support groups involving other families navigating the same rare diagnosis. Through Facebook, Caitlyn determined that her daughter was the 12th child in the United States with the rare disease.

When the care team becomes family 

The multidisciplinary care at Norton Children’s involved a team of specialists working collaboratively to address Everleigh’s complex medical needs. From performing lifesaving surgeries to identifying her rare genetic condition, her care team ensured she received comprehensive treatment at every step. They went above and beyond to give the family hope and a sense of belonging at Norton Children’s.

“Norton Children’s Hospital became more than a hospital for us — it became our home and our family,” Caitlyn said. “From the doctors and nurses in the NICU to 7 East [hospital unit], the staff supported us in ways I could have never imagined. The NICU nurses still check on Everleigh to this day, and so do her doctors anytime we run into them. Dr. Holthouser, who we call ‘Aunt Amy,’ always asks about Everleigh and keeps in touch with us as well.”

Everleigh continues to see a team of Norton Children’s specialists at the Novak Center for Children’s Health, including cardiology, neonatology, endocrinology, pulmonology, gastroenterology and neurology specialists. Today, Everleigh continues to amaze her mom. Although the toddler has been through a lot in her short lifetime, Everleigh continues to defy the odds, find a way to thrive and light up a room with her sweet smile.

“She’s making small but meaningful milestones,” Caitlyn said. “She can sit up, grab objects and even yell and smile. Hearing her say ‘Mama’ for the first time was a moment I thought I’d never experience. It’s so awesome.”