Cystic Fibrosis

Cystic fibrosis is an inherited disease.

What is Cystic Fibrosis?

CF, or cystic fibrosis, is a disease of the glands in charge of secretion, such as the ones that make sweat and mucus. It is an inherited disease, passed on from two “faulty genes…from each parent”. The parents probably did not have the disease, but they were carriers. CF impacts the lungs, liver, intestines, pancreas, sinuses, and sex organs. Normally, the body’s mucus is watery and slippery, and its function is to keep the organ linings moist so that they do not get dried out or infected. The problem for patients with CF is that the mucus is sticky and thick, building up in the airways of the lungs, leading to infections from bacterial growth. The mucus can also stop up the pancreas, and this means that enzymes for digestion, which are made in the pancreas, do not get to the small intestine. Fats and proteins cannot be absorbed if this occurs, so malnutrition and vitamin deficiency result, leading to constipation and gas as well. The sweat of the body becomes quite salty, as well, leading to an imbalance of minerals in the body, and issues such as dehydration, weakness, fatigue, heat stroke, decreased blood pressure, or even death. Patients with CF are at high risk for osteoporosis, diabetes, and fertility issues. CF varies over time in severity. The most frequent cause of death from cystic fibrosis is respiratory failure.¹ Symptoms of CF include wheezing, breathlessness, a persistent cough with thick mucus, lung infections, stuffy nose, and “exercise intolerance”. Patients could also have poor growth and weight gain, greasy and foul-smelling stools, constipation, and intestinal blockage. CF is confirmed through genetic testing and a “sweat test” for salt.²

Prognosis

Cystic fibrosis requires a lot of daily care, but there have been improvements in treatments and screening. Patients can “live into their 20s and 30s, and some…into their 40s and 50s”. Treatments are meant to prevent and fight lung infections, remove mucus from the lungs, treat blockages to the intestine, and provide necessary nutrition. Medications include mucus-thinning drugs, antibiotics, pancreatic enzymes, and bronchodilators to open the airways. Chest physical therapy can loosen mucus, and pulmonary rehabilitation may also include “exercise training, nutritional counseling, breathing techniques”, and counseling. Some patients may require nasal polyp removal, oxygen therapy, a feeding tube, mucus sucked out via “endoscopy and lavage”, bowel surgery, or even a lung transplant.³ The Cystic Fibrosis Foundation works to cure CF by “funding research and drug development, promoting…treatment, and ensuring access to…care”.⁴ One new and promising drug is Orkambi, for adults and teens, which would benefit “about half of CF patients”. Unfortunately, it costs $259,000 per year and is not a cure, but it could reduce the occurrence of death and lung infections.⁵