Jeremy W. Stewart, M.D., Resident, PGY-2, Baylor College of Medicine
Martha Morse, M.D., pulmonologist, The Children’s Hospital of San Antonio; Associate Professor, Baylor College of Medicine
Cystic fibrosis (CF) is a genetic disease that affects many organ systems of the body. According to the Cystic Fibrosis Foundation Patient Registry, 1,000 new people are diagnosed each year and a total of 30,000 people in the U.S. are living with CF.
CF is caused by different mutations in a gene (CFTR) that makes a protein that helps move electrolytes (chloride and sodium) in and out of our body’s cells. When this process is not working correctly, the body produces thick and viscous secretions in the lungs, digestive tract, pancreas, and reproductive organs.
The disease is present when the person has two defective copies of the CFTR gene. A person can be a “carrier” of the defective CF gene, which means they have a defective gene but no disease. If two carriers have a child together:
- One in four children will have CF
- One in two children will be a carrier and not have CF
- One in four children will not be a carrier or have CF
Symptoms of CF include:
- Persistent productive cough
- Salty-tasting skin
- Lung infections
- Difficulty breathing or wheezing
- Growth problems
- Difficulty with bowel movements, often with greasy, bulky stools
- Infertility in males
People with CF require daily routines of lung treatments, digestive enzymes with every meal, vitamins, and regular monitoring to avoid becoming sick, as they are at a high risk of becoming very sick. CF requires a full health care team that includes multiple subspecialties and frequent appointments. In the past, people with CF lived short and troubled lives with frequent hospitalizations and early death.
Currently, all 50 states test newborns for CF. The Texas Newborn Screen began testing for CF in 2008. If the test is abnormal on the first or second newborn screen, a sweat test can confirm the diagnosis.
While CF remains a serious disease, recent advancements in medicine have provided promise for many. CFTR Modulator Therapy helps the protein transport chloride. The medication works for people with specific mutations, as different mutations cause different protein defects. There are currently three CFTR modulators for people with certain CFTR mutations: tezacaftor/ivactor (Symdeko), Ivacaftor (Kalydeco), and Lumacaftor/ivacaftor (Orkambi). A video of how Ivacaftor works, can be found here.
Currently, no cure exists for CF so the scientific community is continually developing new drugs and therapies to lessen its effect on the day-to-day lives of people with CF.
How do I get involved
To find out more about local efforts to raise awareness about cystic fibrosis, visit www.cff.org/lonestar
The Children’s Hospital of San Antonio has a team of specialists who work to diagnose and provide treatments to children, adolescents and teens with cystic fibrosis. To find a pediatric pulmonologist, visit www.chofsa.org/findadoc.