While cystic fibrosis (CF) is not a new disease, there is still a lot to learn about it. In 1938 a

Nearly 1 in every 30 Americans are a carrier of the recessive gene that leads to CF (About Cystic Fibrosis, n.d.). Although CF is a life-threatening condition, through the advancement of treatments and care, there has been a steady increase in life expectancy and improvement in the quality of life. The current mean age of survival is now 40. Although that does not seem very high, sixty years ago, a child diagnosed with CF did not survive childhood (About Cystic Fibrosis, n.d.). CF is a complex disease, where the types and severity of symptoms can differ widely from person to person. Symptoms may include fatigue, salty-tasting skin, persistent cough with phlegm, wheezing and shortness of breath, lung infections, and poor growth and weight loss (Cystic Fibrosis Symptoms, Causes & Risk Factors, 2018). Many different factors, such as the age of diagnosis, can affect an individual's health and the course of the

Cystic Fibrosis is a life threatening condition that causes severe damage to the lungs and digestive system. Developing this condition can change a person's entire life. Depending on the severity of the condition a person can be affected by mild symptoms such as shortness of breath, all the way to severe symptoms such as rectal prolapse, or even death. Screening is done on infants in all 50 states; therefore if a child has inherited Cystic Fibrosis it will be known in the first months of life. As professional staff members of a nursing community it will be necessary to help prepare the child and the family for the life of Cystic Fibrosis.

Cystic Fibrosis, also known as CF, is one of the most common life-threatening genetic disorders found in people. Discovered in 1938 by Dr. Dorothy Hansine Andersen, Cystic Fibrosis severely affects two parts of the human body, including the respiratory system and the digestive system. Cystic Fibrosis causes the mucus glands to secrete very thick and sticky mucus. This mucus then clogs the tiny air passages and traps bacteria in the lungs. The thick mucus also stops the release of digestive enzymes in the pancreas from reaching the small intestine. According to Cystic Fibrosis Queensland (2015) more than one million Australians carry the Cystic Fibrosis Gene, with one in every 25 people, often not realising they are carrying the deadly gene.

A defect in the CFTR gene, or cystic fibrosis transmembrane regulator gene, is what causes Cystic Fibrosis. Every person inherits two of these genes, one coming from each parent. If a child inherits a faulty CFTR gene from both parents they will have CF. If a child inherits only one faulty CFTR gene, they are considered “CF carriers” ("What Causes Cystic Fibrosis?," 2013). More than 10 million Americans are carriers of the defective CF gene ("Cystic Fibrosis Foundation – Testing for Cystic Fibrosis," 2014). Carriers are able to live a normal, healthy life and they usually have no symptoms of CF, however, they could pass the faulty CFTR gene down to their children ("What Causes Cystic Fibrosis?," 2013). Carrier testing is available to help people identify if they could pass down the gene. The test uses blood samples or scraped cells from inside the cheek to look at a person’s genetic material ("Cystic Fibrosis Foundation – Testing for Cystic Fibrosis," 2014). The figure below shows how the CFTR gene can be inherited (Kotrla, 2014).

A single person has two CFTR genes. They get one copy from each parent. If an adult or child has only one abnormal copy of this gene, they are a carrier of Cystic Fibrosis. A carrier simply means that they carry the trait for cystic fibrosis, and could give it to one of their children. If each parent gives a child one abnormal copy of the CFTR gene, this is when CF occurs. However if they only have one abnormal copy, the child becomes a carrier. When both parents are CF carriers, there is a 25% chance that their child will have Cystic Fibrosis.

People with cystic fibrosis have secretions that are thick and sticky rather than thin and watery. In CF the glands that produce mucus, saliva, and intestinal fluids do not work properly. Thick mucus in the lungs interferes with the removal of dust and germs and can cause breathing problems, infections, and lung damage. The traditional first line of defense

Cystic Fibrosis (CF) is a common genetic disorder that affects the exocrine gland in the lungs, liver, pancreas, and intestines causing progressive disability due to multisystem failure. It is also known as “mucoviscidosis because of the mucus that builds up and blocks the respiratory system and pancreas”(Bedwell). Cystic Fibrosis affects the cells that produce mucus, sweat, and digestive juices. It causes these fluids to become thick and sticky. With them becoming so thick and sticky they can plug up tubes, duct, and passageways. Unfortunately, there is no real cure for Cystic Fibrosis. “Although, the new developments in treatment and management, the 50 percent survival rate from the 1970’s has greatly improved, allowing patients to continue to live their lives longer than ever expected in the past. New developments in prevention of exacerbations, therapy drugs and methods to preserve

“About 1 in 4,000 children in the United States are born with CF” (Crosta, 2009) and “one in every 3,600 children born in Canada [have] cystic fibrosis” ("Cystic fibrosis Canada," 2011). According to several resources a consensus has formed which proposes that people with northern European ancestry, specifically those that are white, are more likely to be carriers of the disease and thus more at risk of having children with the mutated gene. This risk is even more likely if the other parent of the child is a carrier. Another risk factor for CF is “family history, since the disease is hereditary it increases they likely hood of

The type of mutation that causes Cystic Fibrosis occurs in the CFTR gene, or Cystic Fibrosis Transmembrane Conductance Regulator gene. This gene is important to the body because it helps provide channels that transport negatively charged particles (chloride ions) in and out of the cell. Chloride has an important role in the human body by how it controls the movement of water in tissue, which allows mucus to become thin. Mutations in the CFTR gene interrupts the function of the chloride channels. It makes the regulating process of the flow of chloride ions and water across the cell membranes not happen. This causes passageways to produce mucus that is very thick. The thick mucus causes these passageways to clog, and trap

​Cystic fibrosis is a disease that is continually affecting children and adults in the United States. This is an inherited and life-threatening disease which affects many organs in the body. According to the Center for Disease Control, there are an estimated 30,000 people affected by this disease today. There are also approximately 2,500 babies born each year with Cystic fibrosis and unfortunately there are millions of people unaware they even carry the gene for this disease.

One in every 2,500 births a child with CF is born. Approximately 3,000 people in Australia have CF. With the discovery of the CF gene in 1989 it is now possible to test to see if you are a carrier. This is not a simple matter though there is one most common gene for CF, there are over 900 mutations of the gene. Because of this, carrier testing is usually offered only to those people who have a family history of CF.

Cystic fibrosis is most common in North European ancestry and Caucasians, but also happens in Latino, African-Americans, and Native Americans. It is uncommon in Asian and Middle Eastern origins.

Cystic Fibrosis is a genetic disorder caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). The inheritance pattern is autosomal recessive. This means, to have symptoms of CF, you must have two defective CFTR genes, by inheriting a mutant copy of the CFTR gene from both your mother and your father. If you inherit a single defective CFTR gene from either your mother or your father, you are a “carrier” of the disease, but do not show symptoms, since it is a recessive gene. However, you could pass the gene onto your child and they could end up having cystic fibrosis, even if you do not have it. The CFTR gene makes a protein that controls how much salt and water move in and out of the body’s cells.

This is a great improvement over survival rate of the 1950s with the life expectancy of 1 year or less for cystic fibrosis patients. Unfortunately, since it is a recessive genetic disease, there are many men and women who are carriers of the disease without actually having the disease themselves. If each parent is a non-affected carrier of cystic fibrosis, there is only a 25 percent chance of having a non-affected, non-carrier child and 50 percent chance of having a child that is a non-affected carrier of cystic fibrosis. Unfortunately there is also a 25 percent chance of having a child affected by cystic fibrosis. This makes prenatal genetic screening very important.

Cystic fibrosis is an autosomal recessive condition that is caused by the mutation of the cystic fibrosis trans-membrane conductance regulator (Doring & Hoiby, 2008). The mutation affects the absorption of chloride ions which impairs the movement of sodium and water at the cellular level. This results in production of abnormally thick secretions that cause inflammation and damage to the cell. This affects the functioning of the organs. It is one of the most common genetic disorders that affects Europeans. Statistics indicating that one out of 2381 people in the United Kingdom suffer from the condition (Cuthbert, 2011).