Overview
Cystic Fibrosis, or CF, is a genetic degenerative disease that affects how the body works, especially in the respiratory, digestive, and reproductive tracts. CF impacts the cells that make mucus, sweat, and digestive juices, In healthy people, these secretions are slippery and keep internal tubes clear. However, in people with CF, these secretions are thick and sticky. This causes blockages, especially in the lungs and pancreas, leading to troubles with breathing and digestion.
Causes
Cystic Fibrosis is caused by a mutation of the transmembrane conductance regulator or the CFTR gene. An individual’s parents must be a carrier of the CFTR gene mutation and their child must inherit two copies of the mutated gene to have the disease. This gene provides the blueprint for the CFTR protein. There are more than 2,000 different mutations of this gene that cause CF. Some cause a misshapen protein, while in others, the protein is hardly able to be produced by the body. In some cases, the CFTR gene is missing entirely. The type of mutation in an individual determines the severity of their CF.
Symptoms
The primary symptoms of Cystic Fibrosis are frequent lung infections from the excess moisture present in the lungs along with trouble breathing, wheezing, sinus infections, and a nagging cough. Individuals often experience symptoms with their digestive system causing them to struggle with gaining weight and having a good appetite resulting in loose/oily stool and slow growth. These symptoms will only worsen over time, meaning patients with the disease will need daily care. However, those with the condition can still participate in daily activities and live a fulfilling life with the help of medical intervention.
Treatments
While there is no cure for Cystic Fibrosis, there are many treatments that aid in controlling symptoms and improving quality of life. Early treatments include a newborn screening, a sweat test, and testing for adults. Common treatments are antibiotics, anti-inflammatories, mucus-thinning medication, bronchodilators, chest physical therapy, and oxygen therapy. More invasive procedures range from feeding tubes and bowel surgery to lung and liver transplants. However, scientists think they have found a breakthrough treatment with a new medication known as a CFTR protein modulator. This medication helps the lungs to function better, improve digestion and weight, and lessen the amount of salt in sweat.
Thanks to these advances in research and with the help of medical professionals such as pulmonologists and gastroenterologists, the average lifespan of someone with CF has gone from 30 years to 61 years. With some people even living up to 80 years old! Hopefully, with the attention brought to the disease by influencers such as Claire Wineland and popular media such as the award winning movie Five Feet Apart, there will be more research done to improve the lives and symptoms of those living with cystic fibrosis.
Resources I Used and Where You Can Learn More!
https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700
https://my.clevelandclinic.org/health/diseases/9358-cystic-fibrosis
https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/diagnosis-treatment/drc-20353706