About this sample
About this sample
Words: 954 |
5 min read
Published: May 14, 2021
Words: 954|Pages: 2|5 min read
Cystic fibrosis (CF) is a genetic, recessive disorder which affects the lungs and the liver. CF develops when there is a mutation in the gene because it's autosomal recessive it means you would have inherited two copies of the CFTR gene, one from each parent. Symptoms of cystic fibrosis are that the patient becomes prone to lung infection and persistent coughing. This occurs because the cilia can get rid of the mucus, as they're thick and sticky. Also, digestion problems happen because the patient becomes underweight. This punnet square shows two parents who are carriers of the cystic fibrosis allele. If these parents decide to have children there’s a ¼ chance of the baby inheriting cystic fibrosis, a ½ chance of having a baby not having cystic fibrosis, there’s a ½ chance of the baby being a carrier. And there’s a ¼ chance the baby is not a carrier or a sufferer of the cystic fibrosis allele. Individuals that have CF suffer from lung problems because they have a sticky mucus, which causes mucus to build up in the lungs. This means that pathogens such as bacteria can become trapped in the lungs, this will eventually result in an infection. Additionally, cilia don’t work properly which means that the mucus can't be moved, resulting in inflammation. This causes symptoms such as persistent coughs. Similarly, people living with CF have ‘pancreatic insufficiency’. This is because mucus becomes blocked in the digestive tubes, causing scarring and the pancreas to be inflamed. This due to enzymes accumulating the pancreas instead of travelling to the digestive system. Additionally, scarring in the pancreas affects the normal function of the pancreas, resulting in a sluggish pancreas as it limits the production of insulin which is essential to regulate the amount of sugar in the blood. This causes CF-related diabetes (CFRD), which affects over 30% of adults living with CF.
Also, CF affects the secretion and function of bile, which is produced in the liver. CF makes the liver produce sticky bile, which causes irritation and inflammation of the bile ducts in the liver. Sometimes inflammation in the bile ducts creates permanent damage to the ducts scarring and the normal function of the liver. This means that an inactive liver will reduce the production of bile, causing a chemical imbalance and generating digestion problems for the affected individual, including bloating of the abdomen. People living with CF have thinner and weaker bones, susceptible to fracture at an earlier age. This because the bone has low levels of collagen and minerals which are essential for the bone to become strong and enables a rigid framework for the body. This causes extreme joint pain in the bones. CF also affects puberty and women fertility. Women with CF are likely to have periods which are very irregular or may never have periods, which means that they will not ovulate each month like a healthy woman. This can cause many mental health problems.
Rebekah is 19 and was born with cystic fibrosis, as a cause from his parents' faulty alleles who were both carriers. However, both his parents had no idea that they were carries of CF, as they are both orphans. Rebekah was rushed to hospital on his 1st birthday. His parents had noticed her coughing and wheezing far more often. Her mother, who is a nurse has suspected that Rebekah may has CF but ignored the idea as she has thought it would be impossible because she didn’t know her family history. Later that day doctors concluded that Rebekah suffers bronchitis, which often misdiagnosed with CF, due to her having common symptoms such as shortness of breath, wheezing or whistling sound when breathing and coughing up thick mucus. This happens when pathogens such as bacteria can become trapped in the lungs, causing an infection. Additionally, cilia don’t work properly which means that the mucus can't be moved, resulting in inflammation and symptoms. Bronchitis has no cure, so the doctors advised the parents to make sure that Rebekah is receiving plenty of fluid, has lots of rest and to use a humidifier or steam in the bathroom. Unfortunately, at the age of 5 Rebekah symptoms had worsened and that was when his parents decided that she should have a 'sweat test' and it was confirmed that she had Cystic Fibrosis. Rebekah was referred directly to a specialist to be given Bronchodilators, which is a medicine that helps to open the airways to clear mucus from his lung.
In cystic fibrosis, there is no latency or asymptomatic periods as this is genetic and will continue to be there. This has meant that Rebekah at the age of 15 had a CF team which includes a doctor, nurse, social worker, physiotherapist and a dietician. Rebekah had to have 30 minutes of inhalers (which help to open her passages) and physiotherapy every morning before school. Rebekah, who is now 19, is at university abroad studying marine science but now suffers CF-related diabetes (CFRD), due to having a ‘pancreatic insufficiency’ which caused her scarring in the pancreas, resulting in a sluggish pancreas as it limits the production of insulin which is essential to regulate the amount of sugar in the blood. CF has had a massive impact on Rebekah’s daily life. Rebekah has experience social isolation because she has difficulty forming and having a long-lasting relationship with the opposite sex. This means that Rebekah could result in being less socially communitive and may not want to integrate into society. On the other hand, Rebekah has a good social life with her friends and family and receives group therapy within her university, which has allowed her to meet a boyfriend, who she trusts and can confide in when she has problems.
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