6 Tips for Caring for a Family Member with Cystic Fibrosis

Cystic fibrosis (CF) is among the most common and severe genetic diseases in the United States, with about 1,000 new cases every year. The disease is caused by a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and it affects the secretory glands, which are responsible for the production of sweat and mucus. Healthy people’s mucus is a slippery and watery substance that keeps the organs moist, but in CF patients, mucus is thick and sticky. The respiratory, pancreatic, gastrointestinal and reproductive systems are affected by the genetic defect and the accumulation of mucus provokes difficulties in properly breathing.

Cystic fibrosis is a chronic disease for which there is currently no cure. However, improvements in diagnosis have made possible the definition of an early treatment plan. Newborn screening for CF has become widely conducted and the age of diagnosis has decreased to two years old. Therefore, in the majority of the cases, patients are diagnosed as children and their parents or other loved ones become their caregivers, a task with numerous challenges.

1. Caring for a Child: Identifying the Signs

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Being an inherited disease, cystic fibrosis runs in the family, but in some cases, families may not realize this and the diagnosis may be a shock. Right from the start and during the entire process of caring for a patient with cystic fibrosis, knowing what to expect and what isn’t normal can be helpful. It prevents caregivers from being scared or surprised with the manifestations of the disease. When medicated, children tend to suffer from mild symptoms, which can become more severe over time.

Parents should call a doctor if the CF patient gets worse for no apparent reason, which may include increased coughing, new or worse wheezing, more trouble breathing than usual, loss of weight or not gaining weight, or additional symptoms not discussed by the doctor. Common symptoms in older patients include persistent cough that produces thick (sputum) mucus, wheezing, breathlessness, exercise intolerance, repeated lung infections, inflamed nasal passages or a stuffy nose, foul-smelling and greasy stools, poor weight gain and growth, intestinal blockage, particularly in newborns (meconium ileus), and severe constipation.

One comment

  1. Deb Haupert says:

    ACOG recommends pre conceptual testing for all women. Committee Opinion #486.
    Family history need not be present to have a child with CF or a child who is a CF carrier.
    Newborn screening does not identify all carriers.

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