By Maria Franco, MD
Pediatric Pulmonologist and Medical Director of the Division of Pulmonology

May is Cystic Fibrosis Awareness Month, which is the perfect time to learn more about this lifelong lung condition that’s all too common among children. The Cystic Fibrosis Foundation’s theme for this year is, “More Than a Lung Disease.” According to the foundation, this genetic condition is more common than many people realize: About 30,000 children and adults in the United States — and more than 70,000 worldwide — live with the complications of cystic fibrosis (CF). About 75 percent of CF cases are diagnosed in the patient by the age of two.

What Is Cystic Fibrosis?

CF is a genetic disorder, which means it occurs due to a gene mutation. Both parents must be a carrier of the defective CF gene in order to pass the disease along to their children. The mutations cause the cystic fibrosis transmembrane conductance regulator (CFTR) not to function properly by not allowing the faulty protein to help move chloride (a component of salt) to the cell surface. This causes the buildup of thick, sticky mucus in various organs of the body, most commonly in lungs, pancreas and liver.

This mucus leads to a variety of complications in children with CF. One of the biggest issues in the lungs is that the mucus traps bacteria and other germs, which leads to chronic infections and other problems. This makes avoiding germs very important for children with CF. The backup of mucus in the pancreas, does not allow the digestive enzymes to be released. Because of this, the body is not able to absorb necessary nutrients, resulting in malnutrition.

Other potential symptoms of CF include the following:

• Persistent wet cough
• Frequent lung infections
• Wheezing
• Shortness of breath
• Chronic sinus infection
• Nasal polyps
• Salty skin
• Poor weight gain and growth
• Trouble with bowel movements
• Enlarged fingers and toes
• Rectal prolapse
• Male infertility

Identifying and diagnosing Cystic Fibrosis is a multistep process. Cystic Fibrosis is included in the Newborn screening done by each state but only 10% of cases are identified through this. Diagnosis is confirmed via Sweat test and Genetic or carrier testing. If there is concern for Cystic fibrosis it is recommended to have a clinical evaluation at a CF foundation accredited center. Typically, diagnosis occurs before 2 years of age; however, some are diagnosed as adults. There is no cure for CF, but advances in treatments have made it easier for patients to manage these symptoms.

How Severe Is It?

The symptoms of CF can be severe and life threatening however, the severity can range greatly from one child to another based on age of diagnosis and treatment availability. Cystic fibrosis can cause further complications due to the damage to the lung, pancreas and other organs.

How is it Treated?

The good news about CF is that great advances have been made in its treatment, which has increased the life expectancy of children with the condition. Regular checkups and tests with your child’s doctor are essential for managing the condition and making sure your child is getting the care they need.

Treatments for CF include respiratory treatments such as inhaled medications to open up the airways and help thin the mucus, airway clearance therapies (ACT), which involves various methods of loosening up mucus in the airway and allowing it to be coughed up. Pancreatic enzymes and nutritional supplements may also be needed to help the child supplement capsules to improve the absorption of vital nutrients at every meal and snack.

Often times children with CF will need antibiotics and anti-inflammatory medication from time to time to treat infections. The Cystic Fibrosis Foundation's commitment to furthering CF research has helped find new treatments for the disease.

Since 2012, many advances in treatment have been developed in the form of CFTR modulators, which are effective for specific DNA mutations. These oral medications target the underlying defect in the CFTR protein. Because of these advances in treatment patients with Cystic Fibrosis the predicted life expectancy for patients have increased to 50 years of age.

Nicklaus Children’s Hospital’s Division of Pulmonology is a Cystic Fibrosis Foundation-Accredited Center with a multidisciplinary approach to care that includes a robust team of doctors, nurse practitioners, dietitians, respiratory therapists, social workers and psychologists who specialize in the care of children and adolescents with CF. The center is equipped to administer prompt interventions with specialized therapies. This helps promote health and prevent complications in new patients by providing them with immediate treatment.