05/02/2026
WHAT IS CYSTIC FIBROSIS ?
CF was named in 1938 by American pathologist Dr. Dorothy Andersen after she provided the first description of the disorder in the medical literature, calling the disease “cystic fibrosis of the pancreas” based on her autopsy findings of children who died of malnutrition. Other physicians of the era referred to the disease as “mucoviscidosis,” which called attention to the presence of thickened mucus.
- CF is a genetic condition affecting 40,000 in the US and around 110,000 worldwide.
- A defective protein causes a mutation on the 7th chromosome causing thick sticky mucus in our bodies.
- because of this, it affects the lungs and GI systems mostly (but honestly everywhere that mucus can be, in which I will be outlining the entire month)!
- over time, mucus clogs airways and traps germs.. leading to infections, inflammation, scarring, and damage.
- in the GI, the mucus prevents the release of pancreatic enzymes that help absorb nutrients .. and can also cause CF related diabetes, gastroparesis, nutrient deficiencies, and constipation.
- this can also happen in the liver causing liver disease. (Or if you’re like me in that lucky up to 5% .. it causes liver STONES)
- to top it all off, it can cause issues in the reproductive system too. Many males are infertile due to the das deferns being not connected, and women have issues trying to get pregnant due to the mucus issues. In recent years with the help of modulators, it’s helped women a lot!
- but because of this protein malfunction, our bodies also sweat out all of our salt. (I joke we’re just a giant body shot waiting for it’s tequila!)
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But... so... HOW DO YOU GET CF??
- in order to get CF, both parents must carry a CF gene.
- these people are called ‘carriers.’
- each pregnancy between two CF carriers will result in: 25% chance of the child having CF, 50% chance in the child being a carrier, 25% of being lucky and no result in CF or being a carrier.
- the CF gene is labeled as a ‘mutation,’ and there are over 2,000 documented these days!
- to diagnose, most babies now get screened at birth (yay research!), a child can go through having a sweat test done, and from there will have genetic gene testing done. The kicker is though, not all states do a full panel sequence. Some just do a ‘most common’ panel.. and that’s where many of us rare kiddos don’t get noticed.. it usually only tests for roughly the most common 150-180 mutations.
A fun fact about me, is that my parents actually passed the carrier test & I didn’t learn actual names of my mutations until my teens. We will get into this in a couple of days though!
The CFTR gene belongs to a family of genes that regulate the energy transfer that allows a cell to open and close its ion channels. It is located on human chromosome 7 and consists of twenty-seven sequences of DNA that encode 1,480 amino acids. The CFTR gene produces the CFTR protein, which regulates the chloride ion content of epithelial cells that line the nasal cavity, lungs, and stomach. These cells secrete fluids such as sweat, mucus, and tears, which normally are thin and watery. When chloride ions cannot leave the cell properly through the CFTR protein, water is retained in the cell due to osmosis and these fluids are thicker than they should be. Thus, the proper regulation of the chloride channel enables a cell to maintain the correct balance of electrolytes on both sides of the cell membrane.
History of cf: https://www.nationaljewish.org/conditions/cystic-fibrosis-cf/history
Link to about CF: https://embryo.asu.edu/pages/cystic-fibrosis-transmembrane-conductance-regulator-cftr-gene
