Connecting Care to Those with Rare

Cystic Fibrosis

Our next student nurse blog submission about sickle Cystic Fibrosis. It is an honor to build relationships with nursing and medical programs to precept bright students eager to learn and make a difference for rare diseases in medicine.
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Cystic fibrosis (CF) is a progressive genetic disease that causes persistent lung infections which can result in severe damage to the lungs, damage to the digestive system and adversely affect other organs in the body. It can lead to respiratory failure. CF affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in people with CF, a defective gene causes the secretions to become sticky and thick. Instead of acting as lubricants, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas. The thick and sticky mucus associated with cystic fibrosis clogs the tubes that carry air in and out of your lungs making it harder to breathe over time. 

Signs and symptoms of Cystic Fibrosis: 

  • Very salty-tasting skin 
  • A persistent cough that produces thick mucus (sputum) 
  • Wheezing or shortness of breath 
  • Exercise intolerance 
  • Repeated lung infections including pneumonia or bronchitis 
  • Male Infertility 

The thick mucus can also block tubes that carry digestive enzymes from your pancreas to your small intestine. Without these digestive enzymes, your intestines aren’t able to completely absorb the nutrients in the food you eat. The result is often: 

  • Frequent greasy, foul-smelling bulky stools 
  • Poor weight gain and growth despite a good appetite 
  • Intestinal blockage, particularly in newborns (meconium ileus) 
  • Chronic or severe constipation, which may include frequent straining while trying to pass stool, eventually causing part of the rectum to protrude outside the anus (rectal prolapse) 

Genetic Risk 

In cystic fibrosis, a defect (mutation) in a gene — the cystic fibrosis transmembrane conductance regulator (CFTR) gene — changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus that clogs the respiratory, digestive and reproductive systems, and causes increased salt in sweat. The thick mucus can trap germs too and this can lead to bacterial infections and inflammation.  Because cystic fibrosis is an inherited disorder, it runs in families, so it is important to gather a good family history. Therefore, identifying at risk families is important to include during normal nursing assessments.  Although CF occurs in all races, it’s most common in white people of Northern European ancestry.  

Nursing Considerations 

From a clinical nursing perspective there are immediate concerns for minimizing risk for infection so handwashing and minimizing contact with persons who are sick would be very important for an individual with CF.  There is a risk for electrolyte imbalances, so replenishing electrolytes replacement will be important.  Poor nutrition may become a concern so it would be important to include a nutritionist in the care plan and observe for weight loss, reviewing daily nutrition, and if necessary, provide resources about supplemental nutrition. I would be concerned about my patients having fatigue and exercise intolerance due to limited lung capacity so it’s possible they would benefit from prescribed oxygen therapy or respiratory therapy. Furthermore, there is a risk for reproductive problems, including infertility in males; so good gynecologic or male reproductive care beginning at puberty is very important.  Genetic testing and good family planning are important since this is an inherited condition. For parents to pass CF to a child both must have at least one copy of the defective gene. Couples planning a family would need to discuss and weigh risks involved in having children with their medical team. 

Although cystic fibrosis is progressive and requires daily care and a strong support system, people with CF are usually able to attend school and work. Improvements in screening and treatments mean that people with CF can live longer. For that reason, long term life planning, transition planning, family planning and end of life planning are all ways to support people diagnosed with Cystic Fibrosis. 

Cystic fibrosis is just one of thousands of rare conditions, but since people are living longer and healthier lives with this condition, it is encouraging to think that people with other rare diseases can also live longer and have a much better quality of life with excellent medical care.  Nurses are at the center of this work and can do so much to fight for their patients and help improve their lives. This is exciting for me as a student nurse. I am committed to learn more about rare diseases and try to help increase knowledge and improve care in whatever way that I can.