A New Clinic for the Newly Diagnosed
About 70 percent of individuals with cystic fibrosis are diagnosed by 1 year of age, about 20 percent by age 10, and the other 10 percent after age 10. Sometimes family history or an intestinal obstruction related to meconium ileus will tip off the pediatrician early on, but most often it’s coupling the classic symptoms of a chronic cough and failure to thrive that drives the diagnosis. But by then, says Hopkins pediatrician Beryl Rosenstein, serious damage may have already been done.
“We have some patients who unfortunately were not diagnosed until age 3, 4, 6 or 10, and who had evidence of significant lung disease and impaired pulmonary function,” says Rosenstein. “Catch these kids early and you can favorably impact the clinical course and maybe even survival.”
A new newborn screening program, starting in Maryland in July, will help pediatricians detect the disease and intervene in early infancy. Before newborns are discharged from the hospital, their dried blood spot-collected for newborn screening will be used to measure levels of a pancreatric enzyme called trypsinogen, which is usually substantially elevated in newborns with CF. A positive result can be followed up with a diagnostic sweat test. This means 90 percent of individuals with CF will be diagnosed before 1 month of age. They will form a different group of patients for pediatricians like Rosenstein—CF patients who have no signs of pulmonary damage or malnutrition.
“They will have somewhat unique needs,” says Rosenstein. “The focus will be on education and counseling for families, and monitoring patients for problems early on as they develop.”
In conjunction with the screening, the Children’s Center has developed a new clinic for these newly diagnosed newborns. Families will learn nutritional strategies and airway clearance techniques early on, while Rosenstein and his colleagues stay on the lookout for organisms like Pseudomonas aeruginosa. Once colonized in a young CF patient’s airways, P. aeruginosa can quickly become a permanent resident and lead to significant lung damage. Patients with the organism are known to suffer steeper declines in pulmonary function and pulmonary infections requiring IV antibiotics and hospital stays.
“It’s been shown in recent years that if you can pick up Pseudomonas by airway cultures as soon as it starts to colonize, there’s a window of opportunity to eradicate the organism with intensive oral and aerosolized antibiotic therapy,” says Rosenstein. “We have a treatment protocol to fight it.”
The clinic also has the capability to measure pulmonary function in infants, and to intervene early with any signs of decline. Knowing there’s an association between poor nutrition in the first year of life and susceptibility to respiratory infections, clinic staff are raising the bar on nutritional status for these patients, too. Counseling will be offered to parents who may be shocked to learn their seemingly healthy newborn has CF.
“In the past, the child wasn’t thriving and the parents weren’t getting an answer,” says Rosenstein. “With newborn screening, we should detect CF before there’s any damage.” For more information, call 410-955-2795.
A newborn screening test for CF means patients will be diagnosed and treated earlier, reducing their risk for pulmonary damage and malnutrition.