Understanding Cystic Fibrosis - Racquel Tonuzi, MD

Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system but can have many variations. This is a chronic health disorder affecting 30,000 children and adults throughout the United States, with over a thousand new cases being diagnosed every year. It is a condition that harms the cells that produce mucus, sweat, saliva and digestive enzymes, and is the result of a spectrum of defective gene mutations that cause the body to produce unusually thick, sticky mucus that can present with clogs in the airways, pancreas, kidneys and reproductive organs. A child must inherit a specific gene from each parent to get cystic fibrosis.

While there is no cure, the great news is that the life expectancy for those diagnosed with cystic fibrosis has been increasing during the past four decades. On average, people who suffer from cystic fibrosis live into their thirties, and new treatments have extended that to the forties or longer.

Over half of the patients who are diagnosed with cystic fibrosis are under the age of three. Some symptoms become evident to the parents of infants. Those with cystic fibrosis tend to have higher than normal amounts of salt in their sweat. This may be one of the first signs parents notice because they taste the salt when they kiss their child. Other obvious symptoms of this disorder may be a blockage in the intestines that causes a bulky greasy stool, persistent coughing, and wheezing or shortness of breath. Parents may also notice slow development or growth in their child due to poor appetite. Enlargement or rounding of the fingertips and toes known as ”clubbing” may also occur. Other symptoms include rectal prolapse, where part of the rectum protrudes from the anus, and polyps, or growths, in the nose or sinuses.

If your child has a positive newborn screening test or symptoms of cystic fibrosis, he or she will be examined further. If they are diagnosed with cystic fibrosis, there are many treatment protocols to consider. The type of treatment will depend upon what health problems your child is experiencing, and how his or her body responds to different types of treatment. Your physician may prescribe antibiotics, mucus-thinning drugs, bronchial airway drainage, or oral enzymes. There are also many steps that may be taken to help prevent the infection from becoming fatal. The main objective of treatment is to stop infections, reduce the amount and thickness of secretions in the lungs, improve airflow, and most importantly maintain adequate calories and nutrition.

In some cases, surgery may be needed to treat complications of cystic fibrosis. These procedures may include chest tube drainage to treat a collapsed lung, lung transplantation, repair or removal of bowel that has become obstructed. Those affected that are not able to get adequate nutrition from food may require a feeding tube.

Although families feel badly when any child is born with a genetic disorder, cystic fibrosis has become one with many life prolonging treatments and therapies.