Genetically inherited diseases

Question 1

physical effects of cystic fibrosis

Answer 1

• can cause pancreas to become blocked with mucus and enzymes needed to digest food cannot reach the stomach meaning inability to absorb nutrients. may have to take 50 tablets a day to mimic these enzymes to help digest their food
• build up of mucus in the lungs can cause chronic infections meaning they struggle with reduced lung function which can hinder their ability to do physical activities. they may have to do physiotherapy exercises 2 to 3 times per day to help remove excess mucus.
• they struggle containing / gaining weight
• compromised immune system
• men usually infertile
• places stress on body of pregnant women

Question 2

social effects of cystic fibrosis

Answer 2

• cannot take part in strenuous cardiovascular activities, such as a football team. eg children and teenagers may feel a loss of community and that they are missing out on friendships and making connections with others
• missing school / work due to frequent hospital appointments, making it hard to maintain friendships, making you feel anxious, stressed and lonely
• may meet other people going through similar things at CF support groups. they will understand and relate to the challenges and create a sense of community

Question 3

psychological effects

Answer 3

• more likely to become depressed due to receded life expectancy or frequently being hospitalised or socially isolated
• may feel like a burden on other people as they often require assistance for simple tasks eg frequent exercise to remove build up of mucus
• men being infertile can cause depression and anxiety and often require counselling
• woman may feel more stress during pregnancy because of their unborn baby’s health and they are at more risk
• may have the determination to go out and give life as much as possible - positive approach

Question 4

physical effects of Huntington’s disease

Answer 4

• uncontrolled movement of arms, legs, face and upper body leading to involuntary jerking or fidgety movements
• muscles are likely to become stiff and rigid causing movements to slow down and person may become clumsy, increasing risk of falls and injury.
• loss in muscle mass and strength. since muscles needed for swallowing are effected (cannot eat solid foods) there may have to be a change in diet which can lead in weightless and severe risk of choking.
• latter stages signals from the brain for basic functions may decline and so the person may experience difficulty breathing and swallowing.
• verbal communication, speech becomes slurred and they are inaudible

Question 5

social effects of Huntington’s disease

Answer 5

• decline in thinking and reasoning skills, including memory loss which can effect ability to communicate with friends and family
• cognitive decline resulting in difficulties with planning and thinking which can affect ability to remember plans and cannot socialise independently
• uncharacteristic anger and irritability which can affect person’s ability to build and maintain relationships with others and engage effectively within the society

Question 6

psychological effects of Huntington’s disease

Answer 6

• affects brain and alters mood, especially anxiety and depressiong
• obsessive-compulsive disorder, leading individual to repeat question or activity over and one
• affect concentration and judgement which can become frustrating (leading to an anger outburst) as they lose their sense of autonomy when they rely on other people for help
• speech deteriorates so communication will br difficult, meaning they will feel embarrassed and stay away from the local community, leading to loneliness and a loser of a sense of community.