Six days after Ella was born, parents Shane and Tara got the news that her newborn screening came back positive for cystic fibrosis (CF). They went to the University of Minnesota’s Cystic Fibrosis Center for follow-up testing the next day. Ella was given a sweat test to determine if her sweat contained the high level of chloride that indicates CF. Within an hour, her positive screen for CF was confirmed. “It was the worst day of my life,” says Tara.
Fortunately, the worst day of her life happened at the CF Center. A worldwide leader in research and development of CF therapies, the Center has established outcomes for CF patients well above the national averages. According to Tara, “If it wasn’t for them, we wouldn’t be here today, with Ella doing as well as she is.”
CF is a genetic disorder, resulting from inheriting an altered gene from both the mother and father. This altered gene results in a non-working protein product, which causes thick, sticky mucus to build-up in the lungs and digestive system. The mucus build-up leads to lung infections and difficulty digesting food and absorbing nutrients.
Even before the CF diagnosis, Tara and Shane were concerned that something was wrong. Ella’s stools were very greasy (a result of her body not absorbing fat), and they seemed to run right through her the minute she would start nursing. “We were changing up to 10 diapers an hour,” recalls Shane. When treated with an enzyme therapy after her diagnosis, her digestive system improved greatly.
Then the real work began. Her parents were given instruction and support for performing the therapeutic chest-pounding regimen required to break up and expel the mucus in Ella’s lungs, which they found very challenging because she just seemed way too little to endure the poundings. “Our pity party ended when the respiratory therapist told us to snap out of it, stop feeling sorry for ourselves,” remembers Tara, “She said Ella was going to be fine, and we just needed to focus on her therapies and overall care plan.”
The Center offers patients access to the very latest in applied research, through its team of physician specialists (pulmonologists, neonatologists, gastroenterologists, endocrinologists), as well as nurses, neuropsychologists, respiratory therapists, dietitians, social workers and genetic counselors. In addition to expert clinical care, the Center provides a real support system for CF patients and their families. “Our real work is helping CF patients lead a normal life, through childhood and into healthy adulthood,” says Dr. Warren Regelmann, interim director of the Center’s Pediatric Division and associate professor of Pediatric Pulmonary and Critical Care Medicine at the University of Minnesota.
“Ella is doing so well today,” according to the Center’s genetic counselor, Amy Powers. “Tara and Shane have really embraced all that is required to keep her healthy and reduce the impact of her illness.”
Like more than 10 million Americans, Tara and Shane are symptomless CF carriers. Unless a CF carrier screening is conducted on both parents, there is no way to know if a child is at risk of inheriting the disease. If both parents are carriers, there is a one-in-four chance that their child will be born with the disease.
CF genetic carrier testing can be performed either before or during a pregnancy, giving parents valuable information about their chances of having a child with CF. Results can be discussed with a genetic counselor or physician who can review risks and testing options, allowing the family to make decisions that are best for them. CF newborn screening is a recent addition to Minnesota’s compulsory newborn screening panel, and it ensures that all babies, regardless of parental carrier testing, are screened for CF at birth.
“By detecting CF as early as possible, we are in the best possible position to help these children live the most normal, healthy life possible,” concludes Regelmann.
