1.Briefly describe the genetic disorder and the circumstances surrounding it; that is, how you know about it/your relationship to it. If any.
2. Once the genetic disorder occurs, what can be done differently for the person or in the person’s life to make the course of life more positive?
3. Are there contextual issues ( i.e., socioeconomic status, culture, or cohort) that make it more less likely that changes will occur in order to improve life? Which issues, how, and why?
The genetic disorder
Cystic fibrosis (CF) is a progressive, genetic disease that causes persistent lung infection and limits the ability to breathe over time. In people with CF, mutations in the CF transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it`s unable to help move chloride – a component of salt – to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky. There is no cure for cystic fibrosis, but treatment can ease symptoms, reduce complications and improve quality of life. Close monitoring and early, aggressive intervention is recommended to slow the progression of CF, which can lead to a longer life.