Case Study and Critical Thinking Questions
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?
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There is a 25% chance that they will have a child with cystic fibrosis.
2. What is the…show more content… 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 disease is cystic fibrosis. The chronic wheezing, persistent cough and stuffy nose would be symptoms to test patient for cystic fibrosis. In cystic fibrosis, a defect in a gene changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat. Children need to inherit one copy of the gene from each parent in order to have the disease. If children inherit only one copy, they won't develop cystic fibrosis, but will be carriers and possibly pass the gene to their own children.
6. What is the recommended treatment for the most likely disease or disorder you identified?
There is no cure for cystic fibrosis, but treatment can ease symptoms and reduce complications. Close monitoring and early, aggressive intervention is recommended. Medications can be used such as antibiotics to treat and prevent lung infections, bronchodilators to help keep airways open, mucus-thinning drugs to help loosen the mucus so the patient can cough it out, and oral pancreatic enzymes to help the digestive tract. Chest PT helps to loosen the mucus.
7. What is the prognosis for the disease or disorder (a) without treatment and (b) with treatment?
Without treatment, the prognosis is very grim. The