What is cystic fibrosis?
Cystic fibrosis, or CF, is an inherited disease passed down in families. Both parents have to carry the gene and carriers are asymptomatic. There is no cure for cystic fibrosis but new therapies are being developed for this disease.
People with CF can have serious breathing issues due to problems with the mucus in their lungs. They also have problems with the pancreas requiring that they take enzymes to digest their food. Other organs can be affected as well.
Pediatric cystic fibrosis
A baby born with CF today can expect to live into adulthood with good care. Newborns are tested for CF so the disease can be identified and treated as early as possible. Many pregnant people are also screened for CF genes, but it is still recommended that their babies have CF newborn screening.
Adult cystic fibrosis symptoms can vary
Sometimes symptoms are not picked up in childhood, because they can be different from person to person. Later symptoms include:
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Coughing up mucus or bloody mucus
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Shortness of breath with exercise
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Growths (polyps) in the nose or sinuses
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Rounded or flattened fingers
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Infertility, especially in males
Pediatric CF symptoms
Most newborns with CF have trouble gaining weight in the first few weeks and months of life and have oily, frequent stools. They may not have breathing issues until a few months of age. Common symptoms in young children can include:
- Salty sweat or salty skin
- Blocked small intestine at birth
- Diarrhea that doesn’t go away; often this is oily and foul smelling
- Chronic constipation and belly pain
- Poor weight gain
- Breathing problems
- Wet cough that doesn’t go away
- Pneumonia
- Wheezing
- Dehydration
- Chronic severe sinus infections
Diagnosing cystic fibrosis
All babies in Maine are screened for cystic fibrosis at birth, if the family agrees to do the test. The screening tests for high levels of a certain enzyme. A laboratory test called a Sweat Test (iontophoresis) measures how much salt is in the sweat and is required to make a diagnosis of CF. Patients with CF have a high level of salt in their sweat. The test can only be done at an accredited laboratory.
Treatment to avoid lung problems includes chest physical therapy and various inhaled therapies to thin mucous and inhaled antibiotics to treat bacteria and exercise. The majority of patients need to take pancreatic enzymes for normal growth. There are also new therapies that can treat the cellular defect and can be taken in pill form that offer great promise for CF patients.
Many CF patients have to be hospitalized for several weeks for intravenous antibiotic therapy to treat lung infections. During this time they receive chest physical therapy 4 times a day, exercise and consultation with the CF team and other specialists as needed.
