Cystic Fibrosis: Abby’s Story

Yet, when Abby’s pulmonologist at the Cystic Fibrosis Center at Children’s Hospital of Philadelphia (CHOP) suggested a gastrostomy tube as an efficient way to deliver calories, her parents resisted. A G-tube is surgically placed directly into the stomach through the belly, and they worried about the implications.

“It was overwhelming for us. We worried the tube would be painful,” Abby’s mother, Jill remembers. They had other concerns, too: Would kids pick on Abby for being “different?” Would the nightly nine-hour G-tube feedings prevent the family from traveling? Jill and her husband, Marco, dismissed the doctor’s suggestion and redoubled their efforts to get more calories into their daughter the old-fashioned way, through her mouth.

The diagnosis

Abby was just 11 days old in 2009 when a routine newborn screening returned the diagnosis of cystic fibrosis (CF). CF is an inherited disease that affects the glands that make mucus, digestive fluids and sweat. Children with CF produce a thick mucus, which clogs the lungs and digestive track. The sticky mucus may build up in the pancreas, preventing enzymes from reaching the small intestines to digest food. This can lead to poor growth and malnutrition.

After their daughter’s diagnosis, Jill and Marco turned to the Cystic Fibrosis Center at CHOP. Abby’s healthcare team developed a treatment plan designed to keep the little girl healthy and growing, including enzyme pills to aid digestion. Abby was just three weeks old when Jill broke open the first enzyme capsule and stirred the tiny pellets into applesauce to feed her infant. That was the beginning of a daily regimen to supply Abby’s growing body with nutrients.

When Abby graduated to solid food, her diet expanded to include cheeseburgers, French fries, sour cream and other foods high in protein, fat and salt. She would eat throughout the day, but her height and weight barely budged from the bottom of the growth chart. Abby was eating enough to sustain her energy level, but not enough to grow.

Making the decision

It was during a routine 3-month checkup at the CF Center that Abby’s pulmonologist, Howard Panitch, MD, first suggested a G-tube. Instead, Jill and Marco upped their daughter’s caloric intake with added supplements and a milkshake before bed.

But the news at their next few visits with Dr. Panitch was the same. Abby’s height and weight remained at the bottom of the growth curve. Dr. Panitch realized that the Marinaro’s concerns about the G-tube itself were keeping them from seeing the long-term benefits of the extra calories it would deliver.

Around puberty, the growth plates between certain bones fuse, sealing off any chance of getting taller. Children whose growth is slowed by CF risk falling short of their expected adult height. Dr. Panitch pointed out that Abby’s growth potential is considerable (Jill and Marco are 5’10” and 6’1” respectively), and explained why it was important to do everything they could to help her grow. Should their daughter need a lung transplant in the future, her small size would make it harder to find a donor, Dr. Panitch explained.

“That got us,” says Jill. “I think that was really a turning point for us. Hearing stories about G-tubes, that wasn’t doing it for us, but Dr. Panitch and the team at CHOP were helpful in answering all our questions and easing our fears.”

"CHOP is the best thing that ever happened to them," says Abby's grandmother, Joan (Mimi).

Life with a G-tube

Abby was 5 years old when CHOP attending pediatric surgeon Pablo Laje, MD, inserted the G-tube. The procedure took only 20 minutes, and Abby was back home within three days. Nurses at the CF Center taught Jill and Marco how to administer the feedings and care for the tube. The couple was relieved that the G-tube didn’t hurt Abby. The only time she complained was when Jill or Marco removed the tape that initially held the tube in place.

Two weeks after surgery, Abby was back to playing and a week after that, kindergarten started. Abby’s social worker at the CF clinic gave the family a picture book about cystic fibrosis to bring to school. Abby stood at the front of the room while the teacher read it to the class, then showed the kids her G-tube and answered their questions.

Now in first grade, Abby started the school year the same way, only this time she read the book to the class herself. Her classmates accept Abby as just another kid, and are even a little jealous that she gets a chocolate bar for snack while they have to eat healthy food. Other than that, she's a social butterfly who is friends with everyone.

In addition to a diet high in calories, fat and sodium, Abby receives feedings through the G-tube five nights a week. The family was relieved to find that the routine has not limited them in any way. They just tuck the IV pole and machine in the back of the pickup truck when they travel. They also have the option of skipping feedings, though they haven’t done that yet.

A ball of energy

It’s been over a year since Abby received the G-tube and there are signs that the nightly feedings are doing their job. She has grown a few inches, making it to the 10th percentile for her age, and is full of energy.

"We have eight grandkids, and she has more energy than any of them!" says her grandfather, Ron (also known as PapPap).

An easy-going child, Abby takes life with CF and a G-tube in stride. She’s become a pro at swallowing her enzyme capsules without help, and doesn’t even wake up when her parents come in at 5 a.m. to disconnect the tube from her nightly feedings. She doesn’t let it stop her from playing soccer, and she recently started playing lacrosse as well.

“We always joke with Abby that it’s how she got her superpowers,” Jill laughs.

Originally published January 2017
Updated May 2017