Cystic Fibrosis
Cystic fibrosis is a genetic disease that causes lung infection and can limit the ability to breathe over time, caused by a person’s genes. Cystic fibrosis is caused by mutations in a gene. It causes a thick buildup of mucus in the lungs and clogs the airway and traps bacteria leading to infections, lung damage, and eventually respiratory failure. As the mucus builds up it blocks the lungs airway. In the pancreas, the mucus prevents digestive enzymes to be released, which is used to break down food and absorb vital nutrients. Symptoms of cystic fibrosis can occur during people's teens or the early stage of adulthood if the diseases is not that serious. There are some people who have serious problems at birth.
Symptoms of cystic fibrosis are coughing, pain in the abdomen, heartburn, diarrhea, and severe constipation. A cough can be persistent, with blood or phlegm. Delay in puberty, development, or slow growth are also symptoms of cystic fibrosis. There are symptoms for cystic fibrosis respiratory and gastrointestinal disease. Respiratory include wheezing, shortness of breath, and allergies that last all year.
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Dorothy anderson provided the first description of cystic fibrosis in 1938, this was discovered based on her autopsy findings in children that died due to malnutrition. Dr. Paul di Sant'Agnese observed infanfants who showed dehydration, this discovered that the sweat of children who had cystic fibrosis had high concentrations of salt. During the 1980s, the protein defect was described and in 1989 the gene was identified and the genetic code was sequenced. A variety of organizations were formed during the 1950s and 1960s. Part of the reason this organization was built was to educate people about cystic fibrosis. The disease was described as malabsorption of fat and protein, growth failure, lung infection, and steatorrhea. Studies showed that inhaled hypertonic saline helps clear the mucus in the lungs and improve lung
R.S. has chronic bronchitis. According to the UC San Francisco Medical Center “Chronic bronchitis is a common type of chronic obstructive pulmonary disease (COPD) in which the air passages in the lungs — the bronchi — are repeatedly inflamed, leading to scarring of the bronchi walls. As a result, excessive amounts of sticky mucus are produced and fill the bronchial tubes, which become thickened, impeding normal airflow through the lungs.” (Chronic Bronchitis 2015) There are many things that can be observed as clinical findings. R.S. will have a chronic cough that has lasted from 3 months to two years or more, and a lot of sputum. The sputum is due to
Symptoms: • Pain in the abdomen • Burning in chest • Chest cold • Chronic cough with blood or phlegm • Pulmonary hypertension • Pneumonia Cystic Fibrosis primarily impacts the respiratory and digestive system. In any case, it might bring about different complications in the reproductive and musculoskeletal system. For example, infertility in men and women and low bone density. Patients with cystic fibrosis frequently have lung diseases caused by germs that don't react to antibiotics.
Hypothesis about signs and symptoms: Symptoms: cramping, diarrhea, and dehydration. These symptoms were thought to be due to the disease withdrawing fluid from the blood and irritating the stomach and
Symptoms for urethritis are mild including frequency of urination and pyuria (presence of white blob cells in the urine). Cystitis (bladder infection) symptoms are easier to distinguish and include back pain, concentrated appearance, urgency, hematuria (presence of red blood cells in the urine), a...
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.
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
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).
Symptoms and signs of possible severe illness (such as unusual lethargy, uncontrolled coughing, irritability, persistent crying, difficult breathing, wheezing, or other unusual signs)- until medical evaluation allows inclusion;
Chronic illness can be very difficult to manage. Cystic fibrosis is the most common life-limiting autosomal (not sex-linked) recessive disease among Caucasian heritage. Although technically a rare disease, it is ranked as one of the most wide spread life-shortening genetic diseases. It is most common among nations in the Western world minus the exception of Finland but it is equally diagnosed between male and female.
This couple has discussed their concerns involving the genetic possibility of their children having cystic fibrosis since a family member has this disorder.
Parker, Steve. "Chronic Pulmonary Diseases." The Human Body Book. New ed. New York: DK Pub., 2007.
When cystitis is suspected, the doctor first examines the person abdomen and lower back, to evaluate unusual enlargements of the kidneys or swelling of the bladder. Tests doctor may order:
1. One couple in the UK who had a child that died from cystic fibrosis was able to screen their new fetus' genes so that their child would be born healthy (Begley).
It takes years for most women to be diagnosed with this mysterious disease, says Ghadir. Unfortunately, that's because the only definitive way to diagnose it is with a surgical biopsy of the tissue. Still, Ghadir urges women to tell their doctor if they have any of the symptoms: chronic pelvic pain, severe menstrual cramps, spotting before your period, painful bowel movements or urination especially during your period, and discomfort or pain during sex especially during deep