What is Cystic Fibrosis (CF)?

Cystic Fibrosis (CF) is a rare, progressive, genetic disease that affects the lungs, pancreas, sinuses, intestines, reproductive system and other organs. The specific gene responsible for CF is called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Just like other genes, the CFTR gene is inherited from the parents. Both parents have to have the CF gene to pass it on to their children. There are over 2,000 mutations of the CFTR gene. Defects in the gene vary by mutation. The lack of the CFTR function causes an imbalance of salt and water in the body, making most people with CF extra salty. Because of that, it causes the body to produce abnormally thick and sticky mucus.

In the lungs, that sticky mucus leads to chronic infections, inflammation and permanent lung damage. People with CF do chest physical therapy (CPT) or Airway Clearance to help loosen and cough up the thick mucus so that it does not build up in the lungs. There are multiple ways / devices to do this. For my son, it looks like “The Vest” or an Oscillating PEP (Positive Expiratory Pressure) Device called an Aerobika. When he was an infant we had to do the CPT manually (bopping). He hated it…but that is another story. “Treatment” as we call it at our house is 30 mins 2x a day when healthy. If he is sick, we have to increase treatment to 30 mins 4x a day. He started the Vest around 18 months old and currently his machine says he has clocked 2,253.1 hours. That is a lot of time to be stuck to a machine.

The mucus can also block the pancreas, trapping digestive enzymes inside. Those enzymes are important chemicals that break down fats, proteins and carbohydrates in food. Without those enzymes the intestines cannot break down food properly, leading to significant malnutrition and poor weight gain. Many people with CF take pancreatic enzymes with their meals to help digest their food and get the nutrients they need.

CF can also affect other parts of the body such as sweat glands. People with CF are saltier, which means they lose more salt when sweating which can lead to severe dehydration. CF can cause liver disease if the abnormally thick bile plugs the liver bile ducts creating chronic inflammation. And the faulty CFTR gene can also cause fertility issues in both men and women. All of these symptoms can be problematic but lung disease is the leading cause of illness in people with CF.

In the United States, there are approximately 40,000 children and adults living with cystic fibrosis, and an estimated 105,000 people have been diagnosed with CF across 94 countries. CF can affect people of every racial and ethnic group.  Although there has been significant improvements in CF care in the last decade, there is still no cure for this life shortening disease. Current medications (modulators) have made CF more manageable and have extended lifespans but we still need a cure. Those medications come with side effects and issues of their own that people with CF have to deal with. Not all genetic mutations and countries around the world have access to the modulators so we have to find a cure so that all people with CF have a long healthy lifespan.

I am hopeful that one day the quote from the Cystic Fibrosis Foundation will be true and CF will stand for Cure Found.  If you have any questions please contact me on the About page.