Cystic fibrosis (CF) affects approximately 30,000 children and adults in the United States, and occurs in approximately one out of every 3,900 births.
Over 10 million Americans are unknowing, symptomless carriers of the defective CF gene, which comes in over 1,000 mutations. When two carriers conceive, there is a 25% chance that the child will have CF, and a 50% chance that the child will be a CF gene carrier.
About 1,000 new cases of CF are diagnosed each year. Over 80% of patients are diagnosed by age three, but nearly 10% initially have more moderate symptoms and are only diagnosed at age 18 or older. Additional information can be found at the Cystic Fibrosis Foundation website, www.cff.org.
Cystic fibrosis (CF) is the most prevalent chronic genetic disease. CF primarily affects the lungs and digestive system and makes a child more vulnerable to repeated lung infections. A defective gene causes the body to produce an abnormally thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections. These thick secretions also obstruct the pancreas, preventing digestive enzymes from reaching the intestines to help break down and absorb food.
Cells in the epithelium, which line the passages in bodily organs and protect tissues, are affected by CF, and the thick, sticky mucus clogs many passages.
The lungs and pancreas are most affected, causing various breathing and digestive problems, and allowing bacteria to remain and cause infection. Thick mucus can also be found in the pancreas, an organ that produces proteins called enzymes that support the body's digestion process. CF patients have trouble digesting food and absorbing its vitamins and nutrients. CF can also affect the liver, sweat glands, and reproductive organs.
Although there is still unfortunately no cure for CF, there are a variety of options to alleviate its symptoms and complications. However, the choice can leave patients and their parents highly confused.
Child Life Society offers expert advice, as well as referrals to top-of-the-line pulmonary specialists.
The following are some of the most common treatments:
• Mucus-thinners – Medicines that thin mucus, making it easier to cough out.
• Antibiotics – Drugs that can kill or slow the growth of germs called bacteria. One commonly used CF drug is TOBI®, or “Tobramycin for Inhalation.”
• Anti-inflammatories – Drugs, like ibuprofen, help reduce inflammation or swelling of tissues in the body. People with CF have inflammation in their lungs. This is one cause of lung damage.
• Bronchodilators – Medicines that open the airways for easier breathing.
• Caring for cystic fibrosis can be overwhelming.
The lungs and pancreas are most affected, causing various breathing and digestive problems, and allowing bacteria to remain and cause infection. Thick mucus can also be found in the pancreas, an organ that produces proteins called enzymes that support the body's digestion process. CF patients have trouble digesting food and absorbing its vitamins and nutrients. CF can also affect the liver, sweat glands, and reproductive organs.
The following are the most common symptoms of cystic fibrosis, although they may slightly differ in individual patients:
• Abnormalities in the glands that produce sweat and mucus and may cause a loss of salt. This can cause an imbalance of blood minerals, abnormal heart rhythms, and, possibly, shock.
• Thick mucus in the lungs and intestines can cause malnutrition, poor growth, frequent respiratory infections, breathing difficulties, and/or lung disease.
Other medical problems, such as:
- Sinusitis
- Nasal polyps
• Clubbing of fingers and toes - a condition marked by the ends of the fingers and toes becoming enlarged; more prevalent in the fingers.
• Pneumothorax - the presence of air or gas in the pleural cavity, causing the lung to collapse.
• Hemoptysis - coughing up blood.
• Cor pulmonale - enlargement of the right side of the heart.
• Abdominal pain
• Gas in the intestines
• Rectal prolapse
• Liver disease
• Diabetes
• Pancreatitis
• Gallstones
Infants showing the following symptoms should be tested for CF as a precaution:
• Persistent diarrhea
• Foul-smelling stools
• Frequent greasy, bulky stools or difficulty with bowel movement
• Frequent episodes of wheezing
• Frequent episodes of pneumonia
• Persistent cough
• Salty-tasting skin
• Slow growth/weight gain despite a healthy appetite
The symptoms of cystic fibrosis may resemble other conditions or medical problems. Consult a physician for a diagnosis.
Cystic fibrosis is an inherited disease caused by mutations (changes) in a gene on chromosome 7, one of the 23 pairs of chromosomes that children inherit from their parents.
Cystic fibrosis occurs because of mutations in the gene that makes a protein called CFTR (cystic fibrosis transmembrane regulator). A person with CF produces abnormal CFTR protein, or no CFTR protein at all, which causes the body to make thick, sticky mucus instead of the thin, watery kind.
Humans have 23 pairs of chromosomes in their DNA. The CF gene is found on chromosome number 7. It takes two copies of a CF gene - one inherited from each parent - for a child to show symptoms of CF. Persons born with only one CF gene (inherited from only one parent) and one normal gene are CF carriers. Although symptomless themselves, can pass those genes on to their children. An estimated more than 10 million Americans are currently CF carriers. Two CF carrying parents have a 25% chance of giving birth to a child with CF.
There are over 1,000 different mutations of the CF gene that can lead to cystic fibrosis (some mutations cause milder symptoms than others). About 70% of people with CF have the disease because they inherited the mutant gene from both of their parents. This can be detected by genetic testing, which can be done in children, both before and after birth, and in adults who are thinking about starting their families.
Of all ethnic groups, Caucasians have the highest inherited risk for CF, and Asian Americans have the lowest. In the United States today, about one of every 3,600 Caucasian children is born with CF. This compares with one of every 17,000 African Americans and only one of every 90,000 Asian Americans. Although the chances of inherited risk may vary, CF has been described in every geographic area of the world among every ethnic population.
And most of them don't know it. Parents can be tested to see if they carry the CF gene, but because there are hundreds of specific CF gene mutations (not all of which are known), genetic testing for CF won't detect everyone who is carrying a CF gene. Doctors can also perform tests during pregnancy to determine the chances that their child will have CF.
The sweat test has been the cystic fibrosis (CF) method of diagnosing for more than 40 years. The test can be performed on individuals of any age. The sweat test determines the amount of chloride in the sweat. There are no needles involved in the procedure. In the first part of the test, a colorless, odorless chemical, known to cause sweating, is applied to a small area on an arm or leg. An electrode is then attached to the arm or leg, which allows the technician to apply a weak electrical current to the area to stimulate sweating. The second part of the test consists of cleaning the stimulated area and collecting the sweat on a piece of filter paper or gauze, or in a plastic coil. The entire collection procedure takes approximately one hour. In some states in the United States, all newborns are checked for CF with a blood test, although the blood test isn't as good at detecting the disease as the sweat test.
The sweat test can help rule out the presence of CF, an inherited disorder of the lungs, intestines and sweat glands. Children and adults with CF have an increased amount of sodium and chloride (salt) in their sweat. In general, sweat chloride concentrations below 40 mmol/L are normal (does not have CF); values between 40 to 60 mmol/L are borderline, and concentrations greater than 60 mmol/L are consistent with the diagnosis of CF. For individuals who have CF, the sweat chloride test will be positive from birth. Once a test result is positive, it is always positive. Sweat test values do not change from positive to negative or negative to positive as a person grows older. Sweat test values also do not vary when individuals have colds or other temporary illnesses.
Treatment of CF depends upon the stage of the disease and the organs involved. Clearing mucus from the lungs is an important part of the daily CF treatment regimen. Chest physical therapy is a form of airway clearance done by vigorous percussion (using cupped hands), clapping on the back and chest to dislodge the thick mucus from the lungs. After lying in a position that helps drain mucus from the lungs, the person has a helper, such as a parent, gently bang on his or her chest or back to loosen the mucus. There is also a newer device called a “therapy vest” that shakes the chest and allows teens to be more independent by doing their therapy on their own.
Other types of treatments include TOBI ® (tobramycin solution for inhalation), an aerosolized antibiotic used to treat lung infections; Pulmozyme, a mucus-thinning drug shown to reduce the number of lung infections and improve lung function; and azithromycin, an antibiotic recently proven to be effective in people with CF whose lungs are chronically infected with the common Pseudomonas aeruginosa bacteria. These antibiotics are administered intravenously, via pills, and/or medicated vapors which are inhaled to open up clogged airways.
When CF affects the digestive system, the body does not absorb enough nutrients. Therefore, people with CF may need to eat an enriched diet and take both replacement vitamins and enzymes.
In the pancreas, the small channels (through which the enzymes produced in the pancreas flow to reach the intestines) become blocked with mucus. This results in cysts being formed and these lead to fibrosis in the pancreas. The enzymes produced by the pancreas are vital for normal digestion. Digestive enzyme preparations can replace most of the digestive enzymes produced by the pancreas.
Insulin is also produced by the pancreas. However, in most cases of cystic fibrosis, the pancreas usually manages to produce enough insulin in childhood, but diabetes is increasingly common in adults.
If you have CF, focus on staying as healthy as possible by following your doctor's treatment instructions, taking your medications, eating right, and exercising. Meeting other teens who have CF via chat rooms is fine, but physical contact between two CF patients carries the risk of infection.
But there is hope. Since researchers identified the CF gene in 1989, they have tried to replace abnormal CF genes with normal ones. Some are working on finding the right method of delivering the normal gene into the cells of a person with CF. Other scientists are trying to find new ways of fighting lung infections and different ways of moving chloride in and out of cells, bypassing the defective CFTR protein. In some cases, lung transplants have extended the lives of people with CF.
In 1938, when cystic fibrosis was first described, over 80% of patients died within one year of birth. In 1980, life expectancy reached age 10. By 1990, thanks to full lung transplants and other scientific breakthroughs, children with cystic fibrosis lived until their late teens.
Today, the median age of survival for a person with CF is 33.4 years. As more advances have been made in the treatment of CF, the number of adults with CF has steadily grown. Today, nearly 40 percent of the CF population is age 18 and older. Adults, however, may experience additional health challenges, including CF-related diabetes and osteoporosis. CF can also cause reproductive problems. Over 95 percent of men with CF are sterile, but new innovations are helping to decrease that number. Although many women with CF are able to conceive, limited lung function and other health factors may make it difficult to carry a child to term.
Sadly, many with cystic fibrosis still die in childhood. Whatever their life span is, the years allotted to those with cystic fibrosis are fraught with medical crises, severe financial hardship, and incalculable emotional stress.
Child Life Society provides vital assistance to children and adults with cystic fibrosis.
Although cystic fibrosis remains incurable, extraordinary medical advances in recent years have helped ease the symptoms and provide hope. However, public awareness and resources remain low, and those suffering from this disease are frequently misunderstood and underserved.
Child Life Society spreads information and provides desperately needed services to CF children and their families. Every dollar donated to Child Life Society helps fund valuable programs that completely change the daily lives of CF children.
Families who live with cystic fibrosis find it difficult to reach out for help. The condition is not as well known as other life-threatening diseases, and the fear of stigmatization often keeps many from publicizing their struggle.
The Child Life Society is the one place that parents are comfortable turning to. We understand their plight and sympathize with them and respect their privacy. Child Life Society undertakes everything possible to ease their burden.
