Newly Diagnosed: Taking the First Step on Your Journey

Cystic fibrosis (CF) is an inheritable progressive disease caused by mutations in the CFTR gene, which leads to a thick mucus buildup in the lungs, pancreas, liver, and intestine. This can cause inflammation and damage, leading to scarring (fibrosis).

CF is caused by a mutation in the CFTR gene, which provides instructions to build the CTFR protein, a channel in the cell membrane that regulates the movements of negatively charged particles, known as chloride ions, in and out of cells. There are more than 1,700 known mutations in the CFTR gene that can cause CF and disrupt the normal function of the chloride channels.

The most common symptoms of CF are respiratory issues such as lung infections, digestive system problems, and reproductive system issues. CF symptoms begin to develop soon after birth. They can vary in severity significantly between patients, and may get better or worsen with time. A patient may not experience all of the symptoms of CF, and some symptoms may not manifest until adolescence or adulthood.

For a full diagnosis of CF, multiple tests need to be carried out. Most CF cases are diagnosed early due to the implementation of newborn screening in the U.S and in many other countries, including the U.K. and Canada. Other ways to reach a diagnosis include the immunoreactive trypsinogen test, genetic testing, sweat test, and nasal potential test.

CF is a chronic disease that can affect many aspects of a patient’s life. Knowing about some of the challenges and complications that may arise from living with CF can help patients find different strategies that will help them in their everyday lives. Seeking medical care, information, and support may help patients improve their quality of life, life expectancy, and emotional wellness.