...Cystic Fibrosis: A Personal Impact Carrie Minton NUR/427 June 8th, 2013 Dr. Angela Lowery Cystic Fibrosis: A Personal Impact Isabel and Anabel Stenzel, identical twins, were born with the deadly chronic disease, Cystic Fibrosis. This disease has had a huge impact on their everyday quality of life as well as their family and friends. It is a daily fight and struggle. Not giving up and continuing to be proactive about caring for themselves is key to survival. At birth the doctor said they had 10 years to live. They are now 40 years old and have accomplished so much in their lives despite the difficulties of living with Cystic Fibrosis. Cystic Fibrosis: The science Cystic Fibrosis is a very progressive and chronic lung disease. Some people have it worse than others. Some are not diagnosed with it until later in life. It is more commonly diagnosed in the Caucasian population. Isabel and Anabel are half Japanese, from their mother, and half German, from their father. So it was very rare that their mother was a carrier of the recessive gene. Since their father was also a carrier, it lead to them acquiring Cystic Fibrosis. The most common autosomal recessive genetic disorder among Caucasians is Cystic Fibrosis (Scott, 2013). Nearly 5% of the population in the United States carries the defective CFTR gene (Scott, 2013). There is still a large number of the population that remain asymptomatic. Cystic Fibrosis has an effect on the exocrine glands, also known as the secretory...
Words: 1489 - Pages: 6
...Cystic Fibrosis By Cameron Boulden Cameron Boulden BI101NB Cellular Essay Cystic Fibrosis Cystic Fibrosis is a genetic disorder passed down to children from parents through defective genes. Normally neither parent has the disease, it is the child who inherits one damaged gene from each parent, causing the infection. Some of the target areas for cystic fibrosis are, sex organs, lungs, liver, pancreas, and sinus. (Gary H. Gibbons) People living with cystic fibrosis have thick gluey mucus that builds up in their lungs and blocks the airways, ultimately making it hard for tubes to carry air in and out. Typically mucus is watery, keeping organs moisturized so they don’t dry out. (Gary H. Gibbons) Mutation of the CFTR (cystic fibrosis transmembrane conductance regulator) gene is what leads to cystic fibrosis. A change in this gene negatively affects the formation of the CFTR protein, making it unable to pass chloride ions and water in and out of cells. The lungs and pancreas are then directly...
Words: 889 - Pages: 4
...Matto Massaad 1/19/16 AP Bio Mr. Duehr Cystic Fibrosis In 2010, two sisters, diagnosed with cystic fibrosis, went on America’s Got Talent to show the world that they would not let this horrible disease drag them down. People said from the start, according to Christina and Ali, “they would never be able to sing.” They were from a family of four children who were all diagnosed with cystic fibrosis. Cystic fibrosis is a single gene disorder. This disease is still very life threatening even though science, medicine, and technology have come a long way since the mid 20th century. In the past fifty years, cystic fibrosis patients have gone from dying as infants to having their average life expectancy be from 3540 years old, (Kaneshiro.) Cystic fibrosis is caused by a mutation of the CFTR gene. This gene makes a protein called CFTR or (cystic fibrosis transmembrane regulator.) This protein balances the salt and water content on epithelial surfaces by providing a channel for the movement of chloride ions in and out of cells, (Genetics and Nutrition.) The CFTR protein can be altered if there is a fatal mutation in the CF gene. Although there are so many different mutations of this gene, the most common is found in almost ninety percent of all cystic fibrosis patients. This mutation is just a simple deletion of three nucleotides. These three nucleotides were to create the amino acid phenylalanine, but with CF, that is never made. The CF protein never makes it to the cell ...
Words: 1072 - Pages: 5
...“Cystic Fibrosis” Pediatric Case Study March 27, 2013 Kasie Wilson The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Cystic fibrosis (CF) is a major cause of serious chronic lung disease in children. It is an inherited recessive trait, in which both parents carry a gene for the disease. Children with cystic fibrosis have a defect in chromosome number seven, which is thought to have developed many years ago as a protective response of the human body against cholera (just a theory). The disease causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body such as the pancreas, liver, and intestine. It also causes a loss of electrolytes in sweat because of an abnormal chloride movement. About one thousand new cases of cystic fibrosis are diagnosed each year and more than seventy percent of these patients are diagnosed by the age of two. Cystic fibrosis is considered a multisystem disease because of the following effects of the thick, viscid secretions. In the respiratory system, small and large airways are obstructed, which then results in difficulty breathing. The accumulation and stasis of the secretions create a medium of growth for organisms that will cause repeated respiratory infections. The thick secretions in the lungs and response of tissues to infections cause hypoxia that can lead to heart...
Words: 1660 - Pages: 7
...According to the Cystic Fibrosis Foundation, cystic fibrosis (CF) is a fairly uncommon genetic disorder which occurs in approximately 70,000 people worldwide (n.d.-a). Although it is uncommon, the disease is fairly well known even in the general public. With advances in medicine, in both diagnosis and treatment of the disease, CF does not carry the death sentence it once did. As is the case with many diseases, people affected are living longer and more normal lives than they were able to in the past. Cystic fibrosis is a genetic disease which affects the mucous membranes as well as the sweat glands (Medline Plus, 2017). Cystic fibrosis is considered an autosomal recessive disorder, meaning that the child must inherit a faulty gene from...
Words: 1497 - Pages: 6
...Cystic Fibrosis (CF) is an additional genetic disorder that can cause several implications to a patient. Cystic Fibrosis is the most prominent single- gene genetic disorder. An individual inherits the disease through a combination of both parents having the CF gene in their genetic make up. Cystic Fibrosis is a disease that mainly affects the digestive system and lungs of a carrier. The defective gene causes the body to produce “a thick, sticky buildup of mucus in the lungs, pancreas and other organs.” This effect leads to a pathway of multiple complications for carriers of the defective gene. The genetic disease is most circulated in the caucasian population.(Nordhaus 117) Prominently, Caucasians carry the gene of Cystic Fibrosis. About...
Words: 962 - Pages: 4
...Section 3 T.A. - Sheree Speckman November 15, 2011 Introduction: Cystic Fibrosis is one of the most common chronic lung diseases in children and young adults. It is an inherited deadly disorder that affects Caucasians in the United States. Cystic fibrosis of CF is a disease that is caused by a defected gene, which causes the lungs to build up with an abnormally thick and sticky fluid, or mucus. This mucus affects the lungs obstructing breathing along with also affecting the pancreas, causing poor absorption of nutrients. For my family Cystic Fibrosis is a well-known disease, because my Aunt Rae Ellen died of it back in 1962. The history of Cystic Fibrosis dates back into the mid-17th century where it was first known as a child who had become bewitched. Advances in cystic fibrosis began to pick up in the 1940s. Children with CF are normally diagnosed by the age of 2 and now can live to around the age of 40. There are many different symptoms that come along with this disease. There are different symptoms related to newborns, bowel functions, lungs, and later in life. The most common symptoms seem to be coughing or increased mucus in the lungs and salty-tasting skin. People with cystic fibrosis have mutations on the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which reduces the ability of chloride ions to travel across cell membranes. There is no way to prevent Cystic Fibrosis but there are ways to deal with it and have a quality life with it....
Words: 2597 - Pages: 11
...Williams. Dr. Williams failed to approach and gain Juan’s confidence and ignored the child only to deal with the parents. Juan’s parents encouraged Dr. Williams to contact Juan’s primary doctors so that he could understand Juan’s medical needs. Juan is dealing with Cystic Fibrosis and other birth defects that were not mentioned. Juan is expressing social problems which are causing concern to his parents. Dr. Williams felt that he could “alter Juan’s angry behaviors with a Standard Behavioral Intervention” (case study video) Dr. Williams felt that a standard behavioral intervention was the next step for Juan without even explaining what that was to Juan’s parents. Juan’s parents were a no-show for the next appointment and Dr. Williams was not bothered by this. Dr. Williams failed to implement the Five General Principals: Beneficence and Nonmaleficence , Fidelity and Responsibility, Integrity, Justice, Respect for People’s Rights and Dignity. Treatment Plan: Evaluation/ Symptoms/Treatment/Diagnosis/Application of Therapy Clinical Interview with Parents of Juan: Juan male age 15 from the Dominic Republic. Parents are expressing concern of social problems and disabilities with their son. Juan has Cystic Fibrosis and other birth defects. Evaluation will need to take place with Juan and his parents as well as alone with Juan, so that Juan can feel comfortable to be able to have a rapport. Forms: Parents have been given medical release, medical consent to treat...
Words: 784 - Pages: 4
...Adult Client with Childhood Disease-Cystic Fibrosis Candace Tiley GCU RN-BSN Health Assessment NRS-434V Kathy Karlberg August 01, 2013 Adult Client with Childhood Disease-Cystic Fibrosis CLC GROUP ASSIGNMENT-SPEAKER NOTES Candace Tiley #1- A clinical description and definition of the disease Definition: Cystic Fibrosis is one of the major life-threatening disorders that affect vital organs such as the lungs, pancreas, liver, and intestines. It is a genetic disorder of the exocrine glands, also called the secretory glands, which are the glands that produce and secrete mucus and sweat. CF affects all races but primarily affects Caucasians of European descent. This disease affects about 30,000 people in the United States and 70,000 people worldwide. In the U.S. nearly 5% of the population carries the defective CFTR gene. There are a high number of asymptomatic carriers. (Scott, 2013) Cystic Fibrosis causes severe damages to cells of the body that produce mucus, sweat, and digestive juices. Under normal conditions, these secretions from the body are usually thin and slippery. However, in people diagnosed with CF, the defective gene causes the secretions to become thicker and stickier. This leads to a plugging up of tubes, ducts and passageways, particularly in the lungs, sinuses, pancreas, intestines, hepato-biliary tree, and the vas deferens. (Hopkin, 2009) Cystic Fibrosis is characterized by abnormal movement of chloride and sodium ions across the epithelial...
Words: 2526 - Pages: 11
...life can be affected by ill-health. In this assignment I will be discussing how cystic fibrosis and obesity affects the health and lifestyle of the person with the illnesses. What is cystic fibrosis? Cystic fibrosis is an example of ill health, as it is the UK’s most common, life threatening disorder. It is a genetic disorder that is caused by ‘an inherited disease caused by a faulty gene. In the UK, 2.3 million people carry the faulty gene and when two people that are carriers of the gene, there is a 1 in 4 chance in every pregnancy that their child will be born with cystic fibrosis. This gene controls the movement of salt and water in and out of your cells, so the lungs and digestive system become clogged with mucus, making it hard to breathe and digest food.’ This faulty gene causes a variety of symptoms for the person with the disorder, some of these symptoms include: a persistent cough, poor weight gain and recurring chest and lung infections. The cells most seriously affected are the lung cells, this is because the over production of mucus clogs the airways of the lungs and increases the risk of infection due to the amount of bacteria that can reproduce which may lead to lung and heart failure. Cystic fibrosis is a disorder that is getting more treatable over the years and with newfound technology and medication has meant that ’life expectancy for children born and diagnosed with cystic fibrosis (CF) in 2010 is 37 years for females and 40 years for males’ Lewis, R (2014)...
Words: 2561 - Pages: 11
...Mucus is a fluid that is slippery and thin, but when cystic fibrosis takes place it turns the mucus sticky and thick. Family History and race are two factors that play a role in inheriting this disease. Cystic Fibrosis were first discovered in 1989 by a pathologist named Dorothy Anderson. Dorothy Anderson discovered this disease when she did multiple autopsies on children and seen that a lot of them were malnutrition. CFTR is a gene that helps make proteins, that produces saliva, sweat and digestive enzymes. CFTR is developed by both parents, but when the gene is broken the child will develop Cystic Fibrosis. When the CFTR gene is only inherited from only one parent, the trait for Cystic Fibrosis is carried, which means their children will have the disease. When experiencing pain in the abdomen, and burning in the chest are symptoms of Cystic Fibrosis. Coughing up blood, bad constipation, wheezing, and salty sweat are also common symptoms. Puberty can be delayed for a child and growth of the body is affected when they have cystic fibrosis. Many parents don’t know that Cystic Fibrosis can be prevented, by taking genetic tests. Genetic testing is when the doctor takes a sample of your blood to see what the risk of having a child with this. This test may also be run while pregnant, so the doctor can keep a close...
Words: 1573 - Pages: 7
...Cystic Fibrosis Imagine if you had a friend her name is Elyse Veldman and she has Cystic Fibrosis. Elyse has to deal with all of the struggles and difficulties that come with Cystic Fibrosis. Elyse and her family have known that she has CF ever since she was born. Elyse, crazy enough, was the first newborn in that hospital to be scanned for Cystic Fibrosis. Elyse is now 8 years old and has never had to take a trip to the emergency room involving CF. This is because Elyse’s parents always make sure that Elyse always takes her medication. You have known Elyse since you were a child and as you age you have a better understanding of what this crazy disease was doing to Elyse’s body but you still are not exactly sure about everything about CF. You know that Elyse Veldman is an incredible person with an hilarious personality and a big heart. What is...
Words: 1414 - Pages: 6
...How many of you have ever heard of the disease called Cystic Fibrosis? Im going to talk about how someone can get Cystic Fibrosis, some symptoms that go along with the disease, a few treatments, and the basic overall prognosis. Now I personally know a great deal about Cystic Fibrosis, or Cf as it can be called because 3 of my cousins actually have it. Cystic Fibrosis is a genetic disease. People inherit CF from their parents through genes, same as how you get your hair color, eye color and height. In order for a person to get CF they must inherit to copies ,one from each parent , of the defective gene called the CFTR gene. Now this gene cause the body to produce unusually , thick and sticky mucus. This mucus clogs the lungs and can cause life-threatening lung infections.It also obstructs the pancreas and stops natural enzymes from helping the body breakdown and absorb food. Some symptoms that go along with CF is Persistent coughingFrequent lung infectionsWheezing or shortness of breathPoor growth and weight gain despite having a good apetite Now even though CF is fairly a rare disease every newborn is screened for it. Now this is not entirely a definitve, so a follow up test is performed called the sweat test. This test measures the salt content of sweat. High salt= cf positive. Unfortuntley, there is no cure for Cystic Fibrosis. According to the CF Foundation Patient Registry the average life expectancy is 40 years old. This is still very young but the life expectancy...
Words: 379 - Pages: 2
...blueprint for all living systems, encoding specific instructions in the sequence of its four nitrogen-containing base pairs that are necessary for building the organism. During the process of transcription, the information in the DNA codons of a gene is transcribed into RNA. A change in the DNA sequence, for example as a result of a "mistake" during DNA replication, is defined as a mutation. Mutations may result in a change in the "blueprint," which may then change the resulting protein product. Assignment details for part one: Transcribe and translate EACH of the three following DNA gene sequences. Turn these in using the graphic organizer. The letters represent the DNA N-base sequences of the genes. The first is the original gene. The next two are mutations of the original. Note that the changes (mutations) are shown in red. Original Gene sequence 3'-T A C C C T T T A G T A G C C A C T-5 Mutated gene sequence 1 3’-T A C G C T T T A G T A G C C A T T-5' Mutated gene sequence 2 3’-T A A C C T T T A C T A G G C A C T-5’ Also, answer the following questions: • What is the significance of the first and last codons of an mRNA transcript? • What meaning do these mRNA codons have for protein synthesis? • Did the mutations result in a change in the final proteins? If so, describe the change. • In general, why might a change in amino acid sequence affect protein function? Part II: Inheritance of Traits or Genetic Disorders Background: Cystic fibrosis is an inherited disease...
Words: 683 - Pages: 3
...Cystic Fibrosis Latisha Long HCS/245 March 26, 2012 Cathy Coyle Cystic Fibrosis In today’s society there are many diseases out there. It is to contract these diseases by coming in contact with a carrier. People who are into sharing dirty needles, having unprotected sex, or not being able to maintain a healthy and clean environment, can become infected with these transferable diseases. There are some diseases out there that you can inherit; one in particular that stands out is Cystic Fibrosis (CF). CF is a life threating disease; there are 1,000 new cases each year. With the new treatments and studies, people are living longer with CF. Before people with CF were only living into the early years of their childhood, and now they are living well past their 30s. CF is an inherited disease that affects the lungs and digestive system. A defective gene and its protein cause the body to produce an abundance of thick sticky mucus in the lungs. The production of this mucus causes the lungs to clog and can lead to life threating infections. CF can also cause the pancreas to obstruct and stop enzymes, which allows the body to absorb and breakdown food. This can cause slow growth and malnutrition in the body, and the sticky mucus can block the airway which makes it difficult to breath causing this disease to be life threatening. People with CF have shorter life expectancy, because of the way CF controls the body. The treatment for CF is improving every day...
Words: 1105 - Pages: 5
