Cystic fibrosis (CF) is a life-threatening condition which causes mucus buildup in the body, severely damaging the respiratory, digestive and reproductive systems. Cystic fibrosis, most often diagnosed during childhood, is caused by an inherited gene mutation. Although cystic fibrosis cannot be cured, many CF patients are living longer, healthier lives thanks to progress in research and care.
Cystic fibrosis is a genetic (or inherited) disease. A baby will be born with CF if two CF genes are inherited—one from the mother and one from the father.
What are the Risk Factors for Cystic Fibrosis?
The birth of a child with CF is often a total surprise to a family, since most of the time there is no family history of CF. Some people carry the CF gene without being affected by the disease. They usually do not know that they are carriers.
If there is a family history of CF, testing is recommended for anyone who has a family member with the disease, or whose partner is a known carrier of CF or affected with CF.
All newborns are tested for CF, which means that parents will know if their baby has the disease and can take precautions and watch for early signs of problems. Infants born with CF usually show symptoms by age two. Some children, though, may not show symptoms until later in life.
The following are the most common symptoms of cystic fibrosis.
Abnormalities in the glands that produce sweat and mucus. This may cause a loss of salt, which can cause an upset in the balance of minerals in the blood. This can lead to abnormal heart rhythms, and, possibly, low blood pressure and shock.
Thick mucus that clogs certain organs, such as the lungs, pancreas and intestines. This may cause malnutrition, poor growth, frequent respiratory infections, breathing problems and chronic lung disease.
The following signs are suspicious of CF, and infants having these signs may be further tested for CF:
Cystic fibrosis is most often diagnosed during newborn screening. If the condition is not discovered at birth and is suspected in an older child, the physician will obtain a medical history and conduct a variety of tests—such as genetic, blood, sweat pulmonary function and stool tests—to diagnose cystic fibrosis.
The Adult Cystic Fibrosis Program includes researchers who are conducting studies on cystic fibrosis. The results of their work are translated directly into exceptional patient care.
What Should I Expect at Brigham and Women's Hospital?
The Adult Cystic Fibrosis Program brings together the full range of services and expertise of BWH and Boston Children's Hospital. The team develops a personalized care plan for each patient based on current research. Your health will be closely monitored and managed to promote optimal lung function and improved quality of life. You will also have access to cystic fibrosis community organizations.
Patients benefit from the teamwork of physicians, social workers, physical therapists, nutritionists and dedicated nurses at BWH and Boston Children's Hospital. They collaborate closely to provide comprehensive care as the child with cystic fibrosis transitions to adulthood.