Cystic fibrosis is a progressive genetic disease. Frequent lung infections cause the condition to develop. As a result, cystic fibrosis will inevitably limit a person’s ability to breathe. Those living with cystic fibrosis are born with the condition. They experience mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. These mutations result in the CFTR protein becoming dysfunctional. This, in turn, causes the mucus in numerous organs is thick and sticky. This build-up can render organs inefficient, limiting oxygen absorption.
People living with cystic fibrosis often experience shorter-than-usual lifespans. As a result, it is critical that those with the condition see a pulmonologist regularly. Prompt and proper treatment is essential to a positive prognosis.
Cystic fibrosis is a genetic condition. A recessive gene is responsible for causing cystic fibrosis. Therefore, children who have cystic fibrosis inherited a copy of the gene from each parent. So, if the child only inherits a single gene, the child will not develop cystic fibrosis. This means that the child can potentially pass the gene on to their own offspring since they would be a carrier.
There are a number of symptoms for people with cystic fibrosis. These symptoms can include:
Cystic fibrosis can affect both men and women. There are approximately 30,000 people in the United States who live with a cystic fibrosis diagnosis. Family history is the highest risk factor for those who develop the condition. If either parent is a known carrier of the gene, the child may be born with cystic fibrosis. However, they will only develop the condition if they inherit the gene from both parents.
Cystic fibrosis is not limited to affecting any one ethnicity. Still, it is found to be largely common in Caucasian individuals of northern European descent. Those who are carriers of the cystic fibrosis gene are generally healthy. Similarly, many do not experience symptoms of cystic fibrosis. A lack of symptoms does not mean the gene cannot be passed on to children. As many as 10 million people may be carriers of the gene without being aware of it. Ultimately, each pregnancy has a 25% chance of yielding a child with cystic fibrosis if the parents carry the required gene.
There are specific requirements to properly diagnose cystic fibrosis. First, a physician will need to observe clinical symptoms. These symptoms must be consistent with cystic fibrosis in one organ, at the minimum. There must also be evidence of CFTR dysfunction. It is typically based on an abnormal sweat chloride test. However, the appearance of mutations in the CFTR gene also allows for a diagnosis of cystic fibrosis.
For infants undergoing a newborn screening, clinical symptoms are not required. The other diagnostic tests for cystic fibrosis can include:
Cystic fibrosis is not currently curable. Nonetheless, there are a number of treatments that can make living with the disease more manageable. Medication is one of the primary ways to ease the symptoms of cystic fibrosis. The types of medicine can include:
Alternative treatment for cystic fibrosis is undergoing a surgical procedure. These procedures can include:
For a less invasive procedure, you can also undergo chest physical therapy. The therapy helps loosen mucus that has thickened in the lungs. The chest therapy is often performed anywhere from one to four times per day.
It is important to see a doctor if cystic fibrosis symptoms arise or persist. Most importantly, you should know which doctors and specialists to speak to about any diagnosis. Given the complex nature of the disease, health care professionals will recommend a diverse team. Since cystic fibrosis can affect different areas of the body, the team members can include a:
The outlook for those living with cystic fibrosis has vastly improved over the decades. Prior cases saw those with cystic fibrosis typically not living past grade school. However, a steady rise in therapies improved the outlook for many patients. Today, individuals with cystic fibrosis can live into their 40’s and 50’s, or sometimes longer.
Even so, the average lifespan is still shorter than ideal. Ultimately, the decline of one’s lung function greatly affects the individual, causing them to become disabled. Lung complications generally result in the cause of death for those with cystic fibrosis. Therefore, focusing any therapies on the lung region is crucial to further extend the lives of those with cystic fibrosis.