Cystic fibrosis doesn’t slow down this toddler

By Maureen Gilmer, Riley Children’s Health senior writer, mgilmer1@iuhealth.org

Hudson Megnin doesn’t care that it’s Newborn Screening Awareness Month.

He doesn’t understand that he was diagnosed with cystic fibrosis as part of the state’s newborn screening program shortly after birth. Or that his parents are both carriers of the CF gene, even though they didn’t know it when he was born.

The 1-year-old son of Logan and Demi Megnin of Bloomington is focused on living the life of a toddler – eating, walking, learning new words and playing peek-a-boo.

“His CF diagnosis definitely came as a surprise,” said Demi Megnin, who had a scheduled C-section at 39 weeks in Bloomington.

When he hadn’t pooped in 48 hours and tests showed a blockage in his intestines, Hudson was moved into the NICU at IU Health Bloomington Hospital, then transferred to Riley Hospital for Children in Indianapolis.

One of the earliest symptoms of cystic fibrosis, a disorder that impacts the lungs, digestive tract and other organs, often is meconium ileus, which happens when a baby’s first stool is blocking the last part of the baby’s small intestine.

Hudson’s mom hoped that’s all it was, but within a few days, the test came back positive for CF.

It was a lot for the Megnins to digest. Their older daughter is a carrier, they learned after her birth, so they knew that one of them must be a carrier, but they did not get tested before Hudson was born. They assumed he might be a carrier but did not expect him to have the disease.

“It becomes your new reality,” Logan Megnin said when asked how they adjusted to the news. “You do what you have to do to keep them healthy,” his wife agreed.

That means regular checkups in the CF clinic at Riley, where they monitor his growth, nutrition, breathing and digestion. He takes pancreatic enzymes to help him absorb and digest food, gets physiotherapy on his chest and back twice a day to keep his lungs clear and takes breathing treatments as needed.

Early treatment for genetic disorders is crucial to long-term health, which is why Dr. Kristen Suhrie, a Riley neonatologist with a special interest in NICU patients affected by genetic disease, champions newborn screenings to get ahead of a diagnosis.

“We’ve developed a dedicated program for newborns with genetic diagnoses to get them connected with appropriate therapy quickly,” she said.

“We partner with the state lab so that all those tests that come back positive are referred to Riley for care. The newborn screening lab provides the testing, and we provide the clinical evaluation and treatment for those children,” Dr. Suhrie added.

Approximately one in 300 live births recorded comes back positive for one of more than 50 disorders covered in the screening, which is a simple blood test for babies typically done about 24 hours after birth. The results generally come back within a week but can be expedited if clinicians already suspect a disorder is present.

Riley offers treatment for all of the disorders tested for in the screening, Dr. Suhrie said, “so it’s very beneficial if we can have that diagnosis early, even before they have any symptoms.”

“Therapies help improve outcomes for those kids, so we try to get that diagnosis within days of birth.”

Because cystic fibrosis primarily affects the GI system and the lungs, it’s critical to begin treatment early, the physician said.

Children with CF produce a thick, sticky mucus that clogs the airways in the lungs and can lead to serious infections. The mucus also affects the esophagus, stomach and intestines and can cause poor nutrition and growth.

“When we make a diagnosis like Hudson’s, we address the GI system. Sometimes those babies are born with intestinal blockages because of the thick secretions that are in their intestines. Sometimes they need a surgery to correct that or supplements to help them absorb and digest their food. We start that right away.”

Addressing any respiratory problems caused by mucus buildup is the other component of therapy, which includes chest physiotherapy and breathing treatments if required.

This year, the FDA approved the use of the drug Trikafta for children with CF who are 2 to 5 years old and have at least one copy of the F508del mutation. Those ages 1 to 2 with at least two F508del mutations can be treated with the drug Orkambi to help slow the disease’s progression.

By all accounts, Hudson is doing great today – hitting his developmental milestones and gaining weight like a champ. That’s a testament to his parents’ care and his Riley team’s expertise. That team includes pulmonologist Dr. Don Sanders, dietitian Karen Maguiness, gastroenterology, nursing, respiratory therapy and social work, among others.

“Having that team has really helped, Demi said. “We were not fully prepared for the CF diagnosis, but we took it in stride, and we’re doing awesome.”

The Cystic Fibrosis Center at Riley is the only pediatric center accredited by the Cystic Fibrosis Foundation in Indiana.

Learn more about the state’s newborn screening program.

Photos submitted and by Mike Dickbernd, IU Health visual journalist, mdickbernd@iuhealth.org