1. Cystic Fibrosis

2. About Cystic Fibrosis Cystic Fibrosis is a chronic inherited disease that affects the lungs and digestive system of around 30,000 people in the United States (70,000 worldwide). People with Cystic Fibrosis have a defective gene and its protein product which causes the body to produce and unusually thick, sticky mucus that clogs the lungs and leads to life threatening lung infections and obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food. in the 1950s people with the disease did not live to go to elementary school.

3. Symptoms Salty tasting skin Constant coughing Frequent lung infections Wheezing or shortness of breath Poor growth/weight gain (even with a healthy diet) Difficulty with bowel movements Short life expectancy (not much higher than 30-40 years)

4. How Cystic Fibrosis is inherited Recessive trait Autosomal (not sex-linked)

5. Medical Help/Treatments Air way clearance techniques (mechanical vest or done by doctor) Inhaled medicines such as: 1. TOBI (an antibiotic for lung infections) 2. Pulmozyme (thins mucus to help with lung function

6. Cystic Fibrosis Foundation For all people with Cystic Fibrosis there is the CFF (Cystic Fibrosis Foundation). They are a non-profit organization dedicated to help people with CF. CFF is supplied by donors and fundraisers. Their main focus is developing drugs to help people with CF.

7. Role Play Scenario You have a child who is 3 years old with cystic fibrosis. Your wife is three months pregnant with a second child. You and your wife were separated a month ago. You have been referred to a genetics councelor. Income – $35,000 Coverage through the employer

8. Role Play Answer Because there is only a 25% chance that the baby will get cystic fibrosis they should have the baby. If their child does get CF they should continue to see their doctor to get their recommended treatments.

9. Sources www.cff.org http://www.ornl.gov/sci/techresources/Hu man_Genome/posters/chromosome/cf.sht ml http://www.lung.org/lung-disease/cystic- fibrosis/symptoms-diagnosis-and.html