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Cystic fibrosis report
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Cystic fibrosis report
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Cystic Fibrosis
Cystic fibrosis is a life-threatening disease that causes damage to the lungs and digestive system. This disease is constantly being researched to find a cure and to develop different treatments to lessen the disease’s effects. CF causes a multitude of defects to how a person’s body functions because of the gene mutation they are born with. To develop CF, a child must receive one gene mutation from each parent. According to the Cystic Fibrosis Foundation, “each time two CF carriers (someone that has one copy of the gene mutation for CF) have a child, the chances are 25 percent (1 in 4) the child will have CF, 50 percent (1 in 2) the child will be a carrier but will not have CF, 25 percent (1 in 4) the child will
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In people who have CF, the gene makes a protein that doesn't work well.” When diagnosed with CF, it causes “thick, sticky mucus and very salty sweat.” More than 10 million Americans are carriers of the gene; however, there are over 1,800 mutations of the gene that have different effects on each person. “Disease-causing” are the gene mutations that cause CF. To be diagnosed, a doctor preforms a sweat test that measures the amount of salt in one’s skin.This test is done because by examining the amount of salt in a person’s sweat, doctors can find out whether the patient has CF or …show more content…
Some groups include Help One Love One, CF Living, and Great Strides. Help One Love One is a foundation that supports adults with CF as they face an everyday struggle of nearing the life expectancy for patients diagnosed with the life-threatening disease. CF Living is an organization that supports all patients and gives them the resources they need to live their life with this condition . Great Strides is a group that raises money for people with CF through walking marathons or just donating for their cause. No matter what kind of support group it is, every single foundation has a main purpose to help those who are suffering with any type of
Cystic Fibrosis (CF) Pathophysiology: Cystic fibrosis is a genetic disease of the secretory glands that affects the respiratory and digestive system. It mainly affects the lungs, pancreas, liver, intestines, sinuses, and reproductive organs. Cystic fibrosis affects the cells that produce sweat, mucus, and digestive fluids. Mucus becomes thick and sticky, causing build-up in the lungs and blocking airways, making it easier for bacteria to develop. This prompts repeated lung infections and can cause severe lung damage after some time.
CF is a chronic condition therefore the patients are either seeking medical attention or receiving (sometime involuntarily) a great deal of medical scrutiny and intervention during their lifetime.
Most of us have experienced a time in our lives when we have dealt with the burdens of sickness. Can you think of a time when a loved one has been severely ill? Or of a time when you, yourself, have been in the hospital? Can you imagine not being able to physically be with that sick loved one, or not having your loved ones nearby to support you while you were sick? Now imagine being a parent with a child who has a life-threatening illness, such as cancer. Wouldn’t that be hard? What if your child needs the best care available, but that facility is out of state? Do you send them away and visit every now and then? Do you move? Do you drive hundreds of miles a week for treatments? How can you afford it all? Thousands of families experience these hardships every day. The struggle to accommodate for a child’s healthcare needs is costly and stressful. That is why Ronald McDonald House Charities provide shelter across America for families with hospitalized children who are receiving treatment away from home.
Being diagnosed with a chronic illness is a life-altering event. During this time, life is not only difficult for the patient, but also for their loved ones. Families must learn to cope together and to work out the best options for the patient and the rest of the family. Although it may not be fair at times, things may need to be centered on or around the patient no matter what the circumstance. (Abbott, 2003) Sacrifices may have to be made during difficult times. Many factors are involved when dealing with chronic illnesses. Coping with chronic illnesses alter many different emotions for the patients and the loved ones. Many changes occur that are very different and difficult to get used to. (Abbott, 2003) It is not easy for someone to sympathize with you when they haven’t been in the situation themselves. No matter how many books they read or people they talk to, they cannot come close to understanding.
In the Shadow of Illness, the book describes different experiences of families who have or had children with cystic fibrosis (CF). CF is an inherited disease that is passed on from the mother or father who is a carrier, but doesn’t have the condition. Doctors have figured that in this scenario, the parents are likely to have a child with CF. Individuals with CF have to take Cotazymes to help the pancreas digest food. If the person does not take these enzymes, the food goes straight through them as diarrhea. Also, the person’s lungs are affected by a thick mucus that must be removed or thinned before it clogs. Doctors recommend the patient to perform daily breathing exercises that prevent the mucus from thickening; for example, swimming
One very special case can be displayed by none other than David Beckham, the famous international football star. He says that he has tried various treatments, but the biggest success came from learning to live with the disease (Healthguru, n.d.). His family is also very supportive of his condition, which shows how important family support is. Quoted by Victoria Beckham, his wife, “We've got three fridges - food in one, salad in another and drinks in the third. In the drinks one, everything is symmetrical. If there's three cans, he'll throw one away because it has to be an even number” (Frith,
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
Contrary to popular beliefs, supports groups involve much more than a bunch of patients sitting around talking about their problems. There is much more taking place in the room. A good support group process is going to encourage the exchange of ideas, experiences
...gous to the gene, there is a twenty-five percent chance that the chid will be health, a twenty-five percent chance that the child will have the disease, and a fifty percent chance that the child will carry CF.
A widely accepted Caucasian disease has since changed; as cases of its existence are appearing in the South Asian Population (Orenstein, Rosenstein and Stern, 2000). First discovered in 1989, Cystic Fibrosis (CF) is a genetically predetermined condition, its presences is lifelong and highly complex, which is why many CF sufferers and families develop various mechanisms in order to adapt to the condition (Tippingemail, Scholes, Cox, 2010). Cystic Fibrosis causes the body to develop thick, sticky mucus which clogs the lungs and affects other organs in the body, mainly the pancreas. The layer of mucus if untreated develops in to a chronic infection which can be detrimental. The pancreas of a CF patient is most vulnerable, once the mucus has reached this organ, it halts digestive enzymes from reaching the intestines which aid in absorbing food, therefore affecting nearby organs (Davies, Alton, and Bush, 2007). Currently there are 9,000 people diagnosed with CF in England (CF Trust, 2011). It has been estimated that there is 1 in 10,000 South Asian sufferers in the UK alone (Kabra, Kabra, Lodha, Ghosh, Kapil et al, 2003; McCormick, Green, Mehta, 2002). Prior research-based literature that focuses on people with CF and their families covers some of the experience of living with the disease but displays some major gaps; none has specifically targeted South Asian individuals. Cross culturally this is also the case; the limited availability of CF research has influenced scientists to devote more attention in this area. For instance, information in regards to CF in Egypt is very limited; firstly CF has been believed to occur infrequently as there has not been a sufficient amount of known CF cases. Naguib, Schrijver, Gardner, Pique, Doss, Ze...
For a baby to have Cystic Fibrosis, he/she has to have precisely two defective cystic fibrosis genes from each of the parents. Both parents must be carriers of this condition. The parents will also not show any signs of having this condition. It is a recessive condition which explains why a majority of the carriers never have a clue when they are carriers. The problem lies on chromosome seven which has the defect in those people living with this condition. Typically, people have 46 chromosomes, which pair up forming 22 pairs in every nucleus in the human body (Wicks, 2007). The remaining two chromosomes are the sex chromosomes hence the seventh chromosome is the one that gets mutated causing Cystic Fibrosis. Some of the common symptoms of Cystic Fibrosis include persistent coughing, salty-tasting skin, wheezing and shortness of breath. Additionally, there is very poor weight gain despite excessive appetite, fleshy growths in the nose and bulky, greasy
Cystic Fibrosis is an autosomal recessive disease created by mutations in both copies of the cystic fibrosis transmembrane conductance regulator gene or the CFTR gene. This means a person must inherit the recessive gene from both parents to have cystic fibrosis. The CFTR gene codes for an ion channel protein that conducts chloride ions across the epithelial cell membranes of the passageways of the respiratory, digestive, and reproductive systems. Mutations of the transmembrane conductance regulator gene causes malfunctions of these chloride ion channels resulting in a decrease in fluid transport of affected organs leading to cystic fibrosis. These CFTR gene malfunctions are due to a lack of production, failure to reach its site of action due
Both genes from each of the parents have to be recessive in order for one to get CF. Both males and females can acquire the disease or inherit it. The mutation of the disease lies on the 7th chromosome and there have been over 1000 different mutations that have been scientifically discovered. Triangle F508 is the most common mutation in the disorder. Over 2/3’s of the worldwide population that have Cystic Fibrosis is from this mutation.
The programs and services range from in the areas of social, emotional, spiritual and physical care. Since 2000, the organization has successfully assisted with over "27,000 individuals who have made over 210,000 visits" (Touched By Cancer). The organization has no limitations around who is Touched, because ultimately whether you are diagnosed or a family member is diagnosed it can impact your life. On the company website the organizations conveys that :"The Gathering Place serves all individuals with any type of cancer and their family and friends regardless of age, gender, race, ethnicity, religion, or sexual orientation. The clinical staff are all master’s prepared and licensed and provide the highest quality standard of care" ( Touched By Cancer). They offer: two educations centers with lending libraries, and a medical librarian, support groups weekly, gentle movement classes, nutrition classes, and an age appropriate support group for
Donations are always accepted by Focus on the Family. You can donate in several ways: Employer Matching Gifts, Estate, Gifts, Gifts in Honor or Memory, Gifts of Stock, Deferred Gift, Product Donations and In-Kind Gifts. Focus on the Family helping resources are 1-800 Family Help Line, Counseling, radio broadcast, website, simulcasts, conferences, interactive forums, magazine and books.