By Nancy Maddox, writer
Sara Rose Barth affectionately refers to her two young daughters—Riley, age 6, and Teagan, almost 4—as mini mes.
“Riley is exactly like her father in personality and stubbornness and being a night owl. Teagan is the early riser, the organizer, creative and over-the-top. She would be my mini me.”
Yet despite their differences, Barth says the girls “have a true sister bond.” Both were born with cystic fibrosis (CF), an inherited disorder that affects about 30,000 US children and adults and about 70,000 people worldwide. People with CF have a defective gene that causes the body to produce unusually thick, sticky mucus that clogs the airways—leading to potentially life-threatening lung infections—and obstructs the pancreatic ducts that secrete enzymes to help the body break down and absorb food.
When she had her first pregnancy, Barth knew she and her husband were CF carriers, meaning they each had a recessive mutation for CF. Genetic testing at 11 weeks of pregnancy indicated the baby had inherited the mutation from both parents and, if test results were correct, would be born with the disorder. “We did quite a big roller coaster ride of emotions,” said Barth. “We were going to continue anyway.”
Riley arrived six weeks early, and, Barth said, “has been a spitfire ever since.” Newborn screening confirmed the earlier test results.
During Barth’s second pregnancy, she and her husband opted to forego prenatal testing. As Barth says, “We weren’t going to do anything anyway.”
The Michigan Public Health Laboratory expedited Teagan’s newborn screening results, which showed that, like her sister, she has CF.
The main treatments for the disorder focus on minimizing lung and digestive problems caused by mucus build-up. Riley and Teagan take oral pancreatic enzymes to help digest food, take a specially formulated vitamin to get a nutrient boost, and have breathing treatments to keep the mucus moving through their lungs. They also take antibiotics to prevent lung infections and, every 18 to 24 months, receive two to three weeks of stronger, intravenous antibiotics—a “tune up” the girls call it.
“My kids are very good and understanding that treatments are not optional,” says Barth. “They know the routine and know what they need to do. They sometimes correct the therapists: ‘That’s not how you do that.’”
Nonetheless, Barth says, “We don’t let CF dictate our lives. We try to emphasize normalcy on a daily basis. The girls still have to follow rules and are disciplined.”
And they have a healthy dose of play. Both Riley and Teagan take swimming lessons in Novi, Michigan, where they live. Riley is a daisy scout, has been enrolled in ballet class since age three and is practicing lyrical jazz at the moment. “She is my diva,” says Barth. “She can go from happy-go-lucky to giving you the glare that would melt you. She has to know about everything. She’s always questioning and trying to figure things out.”
Teagan is taking a summer “princess ballet” class and also takes gymnastics. Barth calls her “your I’m gonna go play football in a dress kind of kid.” She says, “If there’s something to hang on or dangle from, she would be the kind of kid who goes and does it, no matter how high or where or what the risk is.”
Barth is grateful the girls received an early diagnosis, so they have the best possible chance for a long and active life. She says, “Newborn screening is not something to fear. It’s not knowing your kid is sick that you should fear. Newborn screening is your window into knowing what’s going on with your child.”
In 2011, the Michigan Public Health Laboratory screened 112,177 Michigan babies for newborn screening disorders. Eleven were identified with cystic fibrosis.