Common Facts about Cystic Fibrosis
Cystic fibrosis cannot be said to be a common disease, with only one in 3,200 babies born with it in the world, but it still helps to know a few facts about it.
Life expectancy is slowly increasing for people with cystic fibrosis, and being aware of a few facts will help you to act accordingly in case you find yourself going to school or to work with someone afflicted with it.
The first fact that you should know about cystic fibrosis is that it is a hereditary chronic disease. You cannot get it by just touching someone or getting into contact with their body fluids. Here are the conditions for you to get cystic fibrosis:
- 2 defective CFTR genes
Both parents should be carriers of a mutated copy of a gene called cystic fibrosis trans-membrane conductance regulator or CFTR. The CFTR gene is the gene responsible for correct chloride transport in cells mainly in the respiratory system and the digestive system.
- Caucasian or Ashkenazi Jewish origin
You must be a Caucasian or someone with Ashkenazi Jewish ancestry. This disease is more common among people coming from this descent rather than among Asians, African-Americans or Africans. One in twenty people with Caucasian or Ashkenazi Jewish ancestry are carriers of the defective CFTR gene.
A disease affecting lungs and digestive organs
Cystic fibrosis causes the body to produce thick and sticky mucus, which has the following effects in the body:
- Heavy lung congestion that holds bacteria into the lungs, creating infections which can be very dangerous for the patient.
- Low enzyme production due to blocking of the pancreatic duct, leading to mal absorption of food.
Most important symptoms of people with cystic fibrosis:
- Heavy, productive coughing
- Frequent lung infections, with hospitalization for intravenous antibiotics
- Shortness of breath
- Malnutrition, inferior growth rate, low immune system
- Salty tasting skin
- Greasy stools
- The gene responsible for cystic fibrosis was only discovered in 1989,
- Cystic fibrosis patients need to do physical therapy daily to clear the lungs from mucus,
- CF patients need to take enzyme replacement medication to be able to absorb fat and protein,
- cystic fibrosis requires lifelong care.
Fact is there is no known cure for cystic fibrosis as yet, but it is very much treatable and manageable. Treatment depends on how early this disease has been diagnosed. Back in the 50s patients had a life expectancy of only 5 years. Today thanks to the discovery of the gene in 1989 and constant medical research, patients can live up to the age of 40 or even 50.
- Genetic testing is used to determine cystic fibrosis in the prenatal and infancy stages. Parents can also volunteer to get tested if they are carriers of the mutated CFTR gene to see if their child may have it.
- The test utilized for diagnosing cystic fibrosis in children and adults is the sweat test. The sweat test measures the amount of salt in a patient’s sweat as people with cystic fibrosis have higher salt contents in their sweat.
Disclaimer: This website provides general information about cystic fibrosis and in no means should be taken as a medical or health advice. Please consult your doctor before acting on any of its information.