Left untreated, cystic fibrosis in children can have serious health consequences, including poor weight gain and recurrent infections. However, kids often do remarkably well managing and living with the condition due to tremendous advances in treatment.
What is cystic fibrosis?
Cystic fibrosis is an autosomal recessive inherited disorder. This means the genes must be passed down from each parent. It’s characterized by the buildup of thick, sticky mucus that impacts the function of several organs. It primarily affects the respiratory and digestive systems.
“The buildup of thick mucus leads to persistent lung infections, damage to the pancreas that impairs the ability to produce digestive enzymes and insulin, and complications in other organs,” said Dr. Joshua Freedman, pediatric pulmonologist with Marshfield Children’s.
Onset of the condition and symptoms will vary in patients, depending on the severity of the disease.
“Presenting cases may be asymptomatic due to early findings with newborn screening (NBS) results or children may notice poor weight gain, pancreatitis, respiratory symptoms, chronic sinusitis, male infertility and more,” said Dr. Freedman.
Today, cystic fibrosis typically is diagnosed on a newborn screening.
A nationwide program was created to identify babies born with certain health conditions that benefit from early treatment, including cystic fibrosis. To help identify cystic fibrosis early, providers look for mutations on the CFTR (cystic fibrosis transmembrane conductance regulator) gene.
The CFTR gene produces the CFTR protein. This is responsible for regulating the flow of chloride ions in and out of the cells in different parts of the body. This affects the movement of water in tissues and the consistency of mucus in cases where it builds up in organ systems.
Mutations in this gene cause this CFTR protein to malfunction or not be made at all, which leads to the buildup of thick mucus.
“The next step in diagnosis is to have a consult with a genetic counselor and do a sweat test, which is the gold standard for diagnosing cystic fibrosis,” said Dr. Freedman. “A sweat test is a painless test that measures the concentration of chloride in a person’s sweat. This test should be done if an individual has symptoms of cystic fibrosis, a genetic test that identifies them to carry the CFTR mutation or if a baby has a positive newborn screen for cystic fibrosis.”
Treatment is available
Historically, treatment has largely been aimed at treating individual symptoms of the disease. This includes treating with pancreatic enzymes to help with digestion or antibiotics and airway clearance to treat lung infections.
“More recently, advances in treatment have led to the ability to treat the underlying genetic abnormality in most patients. This has led to remarkable improvements in outcomes,” Dr. Freedman said.
Even with advances in care, it’s recommended patients attend regular appointments.
“Typically patients will be seen on average every three months to assess for growth and nutrition, pulmonary health and to check for any concerning infections, even in the absence of symptoms,” he said.
Marshfield Clinic Cystic Fibrosis Center offers care for children and adults
Marshfield Medical Center in Marshfield offers an accredited cystic fibrosis center for children and adults. The center allows patients to be seen for coordinated care in the hopes of minimizing the treatment burden that may come with separate visits.
Patients can see a pulmonologist, nurse, respiratory therapist, social worker, registered dietitian and psychologist, among others, during one visit.
“Most of the team members are the same, specialized team you’ll see throughout your childhood and into adulthood. This helps the transition to adult care go really well,” said Brittany Graves, registered nurse and Cystic Fibrosis Program Coordinator with Marshfield Clinic Health System. “This transition doesn’t start when you turn 18. It happens gradually and is worked towards throughout most of childhood. Cystic fibrosis is a lifelong, chronic condition that affects every day of a person’s life.”