Cystic Fibrosis

Cystic Fibrosis is a life-threatening, genetic condition that affects approximately 30,000 people in the United States and approximately 70,000 people worldwide. Cystic Fibrosis (CF) affects the respiratory and digestive systems of the body by making the normally thin, slippery mucus in each of these systems become extremely thick and sticky. This results in breathing difficulties and lung damage, but it also results in mal-absorption issues in the small intestines.

Different patients present different symptoms of CF from birth. Today, most states conduct CF testing as part of the mandatory newborn screening test (the ‘heal prick’ tests) that is done within 24 to 48 hours after birth. This enables CF to be diagnosed well before the baby’s health begins to suffer. Approximately 10 percent of babies with Cystic Fibrosis are born with a condition called Meconium Illeus, in which the intestines are blocked with meconium (meconium typically makes up the baby’s first several bowel movements.) This can sometimes be resolved with laxatives or enemas, but more often than not requires surgery to be corrected. For those few babies born in a state that does not routinely test for CF, they may go for months without proper treatment. As a result, the babies are usually classified as “failing to thrive.” This means that the child is not growing and gaining weight as he or she should. Once the child is properly diagnosed and begins treatment with vitamins and digestive enzymes, they are usually able to gain weight quickly, but then they are already behind their peers.

Some people are very mildly affected and may be diagnosed much later in life, even into their 30’s. Others are very sick from birth, having severe lung involvement at an early age. Research has not found an explanation for this. There are approximately 1,400 mutations that have been found to be responsible for CF. The most common mutation, Delta F508, occurs in approximately 70 percent of cases. Identical twins, genetically the same as one another, can have dramatically different cases of CF, as can brother and sisters or cousins who have the same mutations.

The effects of Cystic Fibrosis typically first become apparent in the digestive system. Digestive enzymes can remedy this, but patients with CF must be vigilant in eating an adequate amount of calories each day in order to maintain a healthy weight and also to provide the body with fuel to fight off infection. Although several decades ago, CF would kill its victims through mal-absorption, modern medicine has resolved this through vitamin supplements and digestive enzymes.

As stated earlier, CF makes the normally thin, slippery mucus in the body extremely thick and sticky. This sets up a perfect environment for bacteria to set up shop in the lungs. People with CF typically fight infection after infection, resulting in the eventual irreparable damage to the lungs themselves. This occurs as a result of the infections themselves, the constant coughing to eliminate the thick mucus and the mucus itself clogging the smaller airways in the lungs, resulting in pockets that become a haven for bacteria. For those with CF, the most deadly, damage causing bacteria are Pseudomonas and B. cepacia, to name just two. As infections become more pronounced and prolonged, often more in-depth treatments are needed to keep the lungs clear.

The progression of CF is as different from patient to patient. What remains unchanged from patient to patient is the need to consistently and diligently conduct the treatments prescribed by the CF care team.