Julia, 9, and Claire, 7, were both diagnosed as newborns with cystic fibrosis (CF), an inherited disease that affects the glands that make mucus, digestive fluids and sweat. Their mother, Christine, says while having two children with CF is challenging, it has an unexpected silver lining. The disease helped create a strong bond between the girls, and in some ways, makes life easier for them.
“No one is the odd man out,” says Christine. “They support each other and know what it’s like for the other.”
First one diagnosis, then another
The sisters have followed a similar track with the disease, but their early days were dramatically different. Julia was a week old when a newborn screening test revealed she had CF. Her parents brought her to the Cystic Fibrosis Center at Children’s Hospital of Philadelphia (CHOP), where she came under the care of Ronald Rubenstein, MD, PhD.
When Christine became pregnant less than a year later, she knew there was a 25 percent chance that her second child would be born with CF. Claire arrived with a distended and rigid belly. She had meconium ileus, a bowel obstruction that occurs when the baby’s first stool, meconium, is thicker and sticker than usual, causing a blockage in a part of the small intestine called the ileum. It is often seen in babies who have CF.
Claire was transferred from the local hospital near the family’s home in Bryn Mawr, PA, to CHOP, where trauma surgeons performed emergency surgery to remove the blockage. Claire needed a second surgery two weeks later and spent the first 40 days of her life at CHOP.
Once she was home, Claire grew stronger with medication and therapy treatments. But her older sister wasn’t gaining weight as she should. Children with CF do not absorb nutrients properly and require 1 ½ to twice as many calories as other kids. When they get sick, they often lose weight. This leads to longer recoveries, more frequent illnesses and more weight loss. At 2 ½, Julia had fallen into this downward cycle.
Dr. Rubinstein suggested feeding her through a G-tube, which would be surgically placed through the belly, allowing Julia to receive nutrients directly into her stomach. The surgery was a success and over the next year, Julia gradually put on weight.
It takes a village
Christine credits an extremely strong support system of family and friends for helping manage her daughters’ care, especially after their father passed away.
The school nurses give the girls the enzyme pills that help them digest their lunches and snacks. The team at the Cystic Fibrosis Center rounds out the family’s care network, with the social worker, nurse, nutritionist, physical therapist and the doctor each serving a vital role in the family’s life.
“The team approach at the Cystic Fibrosis Center is really helpful for parents,” Christine says. “Having an expert in every area all working together is critical in keeping the girls healthy.”
CF-related diabetes and another G-tube
Children with CF are at greater risk of developing diabetes because the buildup of mucus can damage the pancreas, which produces insulin to regulate blood sugar. It turned out both girls had CF-related diabetes and would need regular injections of insulin in addition to their CF therapy.
Tips for Managing Your Cystic Fibrosis
When Claire was 5, she fell into a cycle of getting sick and losing weight just like her sister had. Christine and the team at CHOP agreed that Claire would also benefit from a G-tube. Having watched her older sister receive nightly feedings for most of her life, Claire was unfazed.
“I don’t know what Claire’s made of; she’s just mentally tough,” Christine says. “She just understood she needed it.”
Claire’s weight gain was dramatic, leaping from the 25th percentile for her age, to the 75th. Last fall, she and Julia started a medicine that targets the genetic mutation that causes CF. The combination of the medication, the G-tube feedings and the other therapies have given the girls more energy and stamina than their mother thought possible.
A special connection
These days, the girls have never been more in sync.
They read during their morning therapy treatments, go to school together and participate in many of the same activities. Last spring, they ran a 5K race with their mother and their au pair, Kim. Both girls are sociable with lots of friends, but it’s their relationship with each other that their mother is most grateful for.
Children with CF can feel isolated in their disease. They carry bacteria in their lungs that can be harmful to each other. With the ever-present danger of cross-infection, they must stay away from other kids with CF.
Christine keeps the girls apart when one is sick, but otherwise it’s impractical for them to avoid one another. Their shared experience with the disease, the treatments and the G-tubes has forged a tight bond between them and brought the entire family immeasurable comfort.
“They have camaraderie, they have complementary personalities,” Christine says. “They seem to be each other’s best friend and supporter.”
Originally published July 2017