Overview
Cystic fibrosis (CF) is a genetic disease. It can cause breathing problems, lung infections, and lung damage.
CF results from an inherited faulty gene that prevents or alters the movement of sodium chloride, or salt, in and out of the body’s cells. This lack of movement causes a heavy, thick, sticky mucus to form, which can clog the lungs.
Digestive juices also become thicker. This can affect nutrient absorption. Without proper nutrition, a child with CF may also experience growth problems.
Getting an early diagnosis and treatment for CF is vital. CF treatments are more effective when the condition is caught early.
In the United States, newborns are routinely tested for CF. Your child’s doctor will use a simple blood test to make an initial diagnosis. They will take a blood sample and examine it for increased levels of a chemical called immunoreactive trypsinogen (IRT). If the test results show higher-than-normal levels of IRT, your doctor will first want to rule out any other complicating factors. For example, some premature babies have higher IRT levels for several months after birth.
A secondary test can help confirm a diagnosis. This test is called a sweat test. During a sweat test, your child’s doctor will administer a medication that will make a spot on your child’s arm sweat. Then the doctor will take a sample of the sweat. If the sweat is saltier than it should be, this may be a sign of CF.
If these tests are inconclusive but still give reason to suspect a CF diagnosis, your doctor may wish to conduct a genetic test for your child. A DNA sample can be pulled from a blood sample and sent to be analyzed for the presence of the mutated gene.
Millions of people carry the defective CF gene in their body without knowing it. When two people with the gene mutation pass it to their child, there’s a 1 in 4 chance that the child will have CF.
CF appears to be equally common in boys and girls. More than 30,000 people in the United States currently live with the condition. CF occurs in every race, but it’s most common in Caucasians with Northern European ancestry.
Cystic fibrosis symptoms vary. The severity of the disease can greatly impact your child’s symptoms. Some children may not experience symptoms until they’re older or in their teens.
Typical symptoms for CF can be divided into three main categories: respiratory symptoms, digestive symptoms, and failure-to-thrive symptoms.
Respiratory symptoms:
- frequent or chronic lung infections
- coughing or wheezing, often without much physical exertion
- breathlessness
- inability to exercise or play without growing fatigued quickly
- a persistent cough with a thick mucus (sputum)
Digestive symptoms:
- greasy stools
- chronic and severe constipation
- frequent straining during bowel movements
Failure-to-thrive symptoms:
- slow weight gain
- slow growth
Screening for CF is often performed on newborns. Chances are the disease will be caught within the first month after birth, or before you notice any symptoms.
Once a child receives a CF diagnosis, they will need continual care. The good news is that you can provide much of this care at home after receiving training from your child’s doctors and nurses. You’ll also need to make occasional outpatient visits to a CF clinic or the hospital. Your child may need to be hospitalized from time to time.
The combination of medications for your child’s treatment may change over time. You’ll likely work closely with the treatment team to monitor your child’s reactions to these medications. Treatment for CF falls into four categories.
Prescription medications
Antibiotics may be used to treat any infections. Some medications can help break up the mucus in your child’s lungs and digestive system. Others can reduce inflammation and possibly prevent lung damage.
Vaccinations
It’s important to protect a child with CF against additional illness. Work with your child’s doctor to keep up with the proper vaccines. Also, make sure your child—and the people who have frequent contact with your child—get an annual flu shot.
Physical therapy
There are a few techniques that can help loosen the thick mucus that may build in your child’s lungs. One common technique is to cup or clap your child’s chest one to four times per day. Some people use mechanical vibrating vests to help loosen the mucus. Breathing treatments may also help reduce mucus build-up.
Pulmonary therapy
Your child’s overall treatment may include a series of lifestyle treatments. These are meant to help your child regain and maintain healthy functions, including exercise, play, and breathing.
Many people with CF can lead fulfilling lives. But as the condition worsens, so may the symptoms. Hospital stays may become more frequent. Over time, treatments may not be as effective at reducing symptoms.
Common complications of CF include:
- Chronic infections. CF produces a thick mucus that is prime breeding ground for bacteria and fungi. People with CF often have frequent episodes of pneumonia or bronchitis.
- Airway damage. Bronchiectasis is a condition that damages your airways and is common in people with CF. This condition makes breathing and clearing the thick mucus from airways more difficult.
- Failure to thrive. With CF, the digestive system may not be able to properly absorb nutrients. This can cause nutrition deficiencies. Without proper nutrition, your child may struggle with growth and staying well.
CF is life threatening. But the life expectancy for a baby or child diagnosed with the disease has increased. A few decades ago, the average child diagnosed with CF could expect to live into their teens. Today, many people with CF live well into their 30s, 40s, and even 50s.
Research continues in the search for a cure and additional treatments for CF. Your child’s outlook may continue to improve as new developments are made.