What Is Cystic Fibrosis?
Cystic fibrosis (CF) is a genetic disease, meaning that it is inherited. Both parents must carry a copy of the mutated gene in order for a baby to be born with the disease. People who have cystic fibrosis produce thick, sticky mucus that builds up in the lungs and also affects the function of the pancreas and intestines. This leads to problems with breathing and digestion.
What Are the Symptoms of Cystic Fibrosis?
The symptoms of CF can vary both in range and severity. Some common symptoms include:
- Salty-tasting skin: Even before newborn testing can confirm a diagnosis, many parents notice the salty taste of a baby’s skin when they kiss him or her.
- Abnormal bowel movements: Because mucus buildup can affect the functioning of the pancreas and intestines, people with CF will often have diarrhea or bulky, greasy stool.
- Frequent coughing: The sticky mucus builds up in the airways and lungs. This can cause bouts of coughing that bring up thick, sometimes bloody, phlegm. It also makes people with CF more prone to respiratory infections such as bronchitis and pneumonia. Over time, repeated infections can lead to lung damage.
- Poor weight gain and growth: Mucus that blocks the pancreas prevents important digestive enzymes from reaching the intestines. As a result, nutrients, fat and protein in food are poorly absorbed. Even if a baby with CF is feeding well, he or she may not gain weight or grow normally.
How Is Cystic Fibrosis Diagnosed?
Cystic fibrosis can be diagnosed with genetic, blood and sweat tests. Though CF is most commonly diagnosed in newborns, the disease can also be detected before a baby is born or later in life.
- Prenatal testing: Genetic screening tests that are performed during pregnancy – such as amniocentesis and chorionic villus sampling (CVS) – will reveal if your baby has cystic fibrosis. Getting a diagnosis before your baby is born will allow you to learn more about the disease and be prepared for the challenges your family will face.
- Newborn screening: It is standard for newborns to be tested for a variety of health conditions, including cystic fibrosis. A genetic test determines whether or not your baby has the gene mutation for CF. A blood test reveals how well the pancreas is working. And a sweat test measures the amount of salt in your baby’s sweat (high levels confirm CF diagnosis). The sweat test is usually done only if needed to confirm or rule out a diagnosis of cystic fibrosis, depending on the results of the genetic and blood tests.
How Is Cystic Fibrosis Treated?
Currently, there is no cure for cystic fibrosis. But there are many modes of treatment that help manage the disease and allow people with CF to live longer and stay healthier. Current treatments focus on getting children and young adults with CF the right treatments so that they can attend school, travel, play sports and live full, busy lives. Treatments may include:
- Methods for clearing airways: There are a variety of techniques that help clear mucus from the lungs – including pounding or clapping on the chest and back, vests that vibrate at high frequency to loosen mucus and deep breathing techniques.
- Exercise: Breathing hard during aerobic exercise is another way to help loosen the mucus that builds up in the lungs. Exercise is also important for maintaining overall health and physical condition.
- Proper nutrition: Because people with CF don’t absorb protein, fat and other nutrients very well, they require diets that are nutrient dense and high in calories and fat. Typically, a person with CF needs to eat about 1.5 to 2 times the amount of calories as someone without the disease. And even with a healthy diet, they may need vitamin supplements to prevent any deficiencies.
- Medications: Your doctor may prescribe a variety of medications to help clear mucus and prevent infections – including inhalable mucus thinners and antibiotics.
- Lung transplant: If your lungs become so impaired that they can no longer function properly, you may be a candidate for a lung transplant. This is a lengthy process, so your CF care team may discuss this treatment option with you long before you actually need it.
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