Meet Bill. He is a 14 year old boy that has been living with cystic fibrosis his whole life.
14 Years Ago
When he was born his parents were shocked to learn that their son had cystic fibrosis.
The doctor told them not to worry, because with proper care people with cystic fibrosis are living up to the age of forty.
One day in Bill's bio class they learned about genetic mutations. They were also assigned mutations to research.
Ironically Bill was assigned cystic fibrosis.
That night Bill read on wikipedia (a very credible site in this parallel universe) that the gene associated with cystic fibrosis or CF is called cystic fibrosis transmambrane conductance regulator or CFTC.
He also read that the most common cause of CF is ΔF508. It is a deletion (Δ) of three nucleotides that results in a loss of the amino acid phenylalanine. This amino acid creates the protein that is a channel across cells that create mucus, saliva, tears and digestive enzymes.
Bill thought about things that sometimes kept him from doing things other kids could. Some of these things were lung infections, persistent coughing, wheezing, and shortness of breath. All of these symptoms correlated with those he read about. He also learned that people with CF have salty skin.
Bill decided to ask his father some questions about CF.
Well son you take medications through your inhaler that help to help keep the airways clear and you take pancreatic enzyme supplements to help your body get more nutrients.
He asked his mom what research was being done to help CF patients.
New medicines like Kalydeco are helping CF patients create the missing protein while others like Tobramycin treat the effects of CF such as killing bacteria that infect compromised immune systems.
That night before Bill went to bed he though about ways that CF provide an obstacle to prevent him from doing things he loves, and ways it enables him to pursue his dreams.
Bill can still play his favorite sports with his friends.
Bill can even have a pet, like his cat Floofy. As long as Bill take his medications he can live a normal life.