Exam (elaborations) NURSING HEALTH ASS

A couple that met at a Cystic Fibrosis Society support group is contemplating having children. They both had brothers who developed cystic fibrosis and they are concerned about the likelihood of having sons who have the disease. As a counselor, you are to answer the following two genetic counseling consult questions in addition to the five critical thinking questions that are listed below. Genetic Counseling Consult Questions (To Answer) 1. What is the likelihood that any of their children (sons and/or daughters) will be born with the disorder? If both parents have the defective gene CF, then the child will inherit both copies of the gene. 2. What is the likelihood that any of their children (sons and/or daughters) will be carriers of the disorder? If two carriers have a child there is: 25% or 1 in 4 chance the child will have CF. 50% or 1 in 2 chance the child will be a carrier but will not have CF. 25% or 1 in 4 chance the child will not be a carrier and will not have CF. Critical Thinking Questions (To Answer) 3. What are the main presenting issues? Include why they may have arisen. (Note—in this case, you are to assume that they have a child who presents with cystic fibrosis.) Some of the presenting issues is that the skin is salty tasting because the balance of salt is disturbed. There can be persistent coughing, shortness of breath, greasy bulky stool and poor weight gain even if the eating habit is good. 4. Identify and use at least one website that you used to learn more about the issues and potential solutions; briefly explain what was found at the website(s). The website I used was “About Cystic Fibrosis”. Within in this website I was able to find the definition of CF, the symptoms, the treatment, the cause, the diagnosis, and the outlook of having the disease. 5. What is (are) the potential disease or disorder? Include (a) a justification for your decision, (b) the causal agent, and (c) the mode of transmission. The potential disease is Cystic Fibrosis and it is a progressive, genetic disease that cause persistent lung infections, and limits the ability to breathe overtime. CF is caused by the mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). The mode of transmission is an autosomal resave manner. Children with CF in the same family may have varying degree of the disease