Dispelling Misconceptions About Cystic Fibrosis

Dr. Dorothy Andersen first wrote about cystic fibrosis in 1938, and our understanding of the disease has significantly evolved since. There are still many misconceptions about what CF looks like today, from the person who lives with the disease to how it manifests.

6 min read

Cystic fibrosis is an immensely personalized disease that looks different for each individual — from the disease-causing mutation to the way it manifests, to the trajectory of the disease over a person’s life. As the disease has evolved over time, there are certain misconceptions about CF that persist which can prove harmful to those living with the disease. Some facts that are important to know about cystic fibrosis include the following:

  • Cystic fibrosis can affect every racial and ethnic background. In Dorothy Andersen’s 1938 paper, she described her initial findings of CF, noting that cases had been reported from various corners of the globe, in people of varying ethnicity and socioeconomic status. The misconception that it is a “white person’s disease,” has contributed to health disparities in communities of color such as delayed or missed diagnosis. According to the 2021 Cystic Fibrosis Foundation Patient Registry, 15% of the registry’s participants self-identify as a person of color (Hispanic and/or not white). Specifically:  

  • 3.5% of people identify as African American 

  • 9.8% of people identify as Hispanic 

  • 5.1% of people identify as another race aside from white   

The Patient Registry contains data from individuals diagnosed with CF who have consented to participate in the Registry and were seen at a CF care center. While the registry represents almost 90% of people in the United States, it is not representative of the entire U.S. population, and it is believed that cases from persons of color are underreported in the registry.   

  • Not all people with CF are diagnosed at birth. While CF newborn screening has been universal for more than a decade in the U.S., each state has different processes for CF newborn screening. These variations include how well the screen performs in identifying newborns with CF, how soon after birth a screen is completed, when the results are reported, when follow-up is completed, and when treatment is initiated. All these variations have the possibility to contribute to a missed diagnosis, ultimately leading to disparities in treatment, care, and outcomes over time.

  • CF is not solely a pediatric disease. In the years following the initial discovery of the disease in 1938, children with CF rarely made it to adulthood. But, in the past few decades, the face of cystic fibrosis has changed. Evolutions in the multidisciplinary CF care model, advancements in research and treatments, and universal newborn screening have helped extend lives.

For a child born between 2018 and 2022, the median predicted age of survival is 56 years old — up from 38 years a decade prior. Additionally, according to the CF Foundation Patient Registry, 60% of the U.S. population that lives with CF are adults.

Today, there are close to 40,000 people in the United States with CF due in large part to more people living longer into adulthood.

  • CF is not just a lung disease. Cystic fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs. Furthermore, CF is a complex disease and the types of symptoms and how severe they are can differ widely from person to person. Many factors can affect a person's health and the course the disease runs, including their age at diagnosis. 

As people with CF live longer, their disease manifests in different ways, forcing them to confront new challenges related to life with CF, including infections, CF-related diabetes, gastrointestinal issues, reproductive health, and mental health.

  • CF is not contagious. Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which cause the CFTR protein to become dysfunctional. While CF itself is not contagious, the thick mucus that builds up in the lungs of people with CF allows germs to thrive and can lead to serious lung infections. As a result, people with CF are more vulnerable to getting sick by catching germs from others who are sick, and particularly from others with CF. The Cystic Fibrosis Foundation's Infection Prevention and Control Guidelines help people with CF, their families, and caregivers reduce the spread of germs in everyday life.

  • There is no cure for cystic fibrosis. While CFTR modulators represent a tremendous feat in addressing the underlying cause of CF, they are not a cure, and not everyone can benefit.  

There are more than 1,700 different mutations that cause CF. About 10% of people with CF have two rare mutations, around 2-3% of which might respond to CFTR modulators. The other approximately 7%, including the 3% with nonsense mutations, will not respond to modulator treatments. Moreover, there are some people who may be able to clinically benefit from modulators but cannot tolerate the therapy and must alter its dosage or forgo the therapy altogether. Advancements like Trikafta® have — along with highly specialized care — contributed to improving quality of life and life expectancy for many, but not all with CF. 

Additionally, modulator therapy cannot reverse or heal permanent organ damage, which is why it's especially important to start these therapies as early as possible. While a lung transplant may be a treatment option for people with cystic fibrosis who are facing advanced lung disease, a person with CF will continue to have CF after the transplant.   

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