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  • Writer's pictureSinead Mackintosh

Cystic Fibrosis

May was Cystic Fibrosis awareness month!

So, let’s make people more aware of what it is and what it is all about! Cystic Fibrosis (CF) is a genetic condition that affects 1 in 2 500 to 1 in 31 000 people globally. The gene responsible is the “CFTR” gene. The gene helps with the transport of salts in the body’s cells, especially in the lungs and pancreas. When the gene malfunctions, there are some really harmful side effects. Sticky mucus buildup is one of the major concerns because it creates breathing problems and puts the person at risk for chest infections. What does this have to do with salts? Well, the chloride in the salts is involved in controlling the flow of water between cells, and the production of mucus.

This mucus increases the chances of pneumonia and more. This is why people with CF have to be careful about germs and sanitization, making them experts on hygiene and face-masks way before Covid-19. Maybe this “brief” experience that the rest of the world has had will make us understand what it’s like to live with the condition that puts you at risk every day. This is just one of the challenges that CF poses. Still, it is what people might have noticed before face masks were everyday/compulsory fashion.

How does someone get CF? CF is what is known as an autosomal recessive condition (photo 2). This means that both parents need to have at least one copy of the dysfunctional “CFTR” gene (we get one copy of every gene from each parent). Then the child needs to inherit two dysfunctional copy to be affected. One copy is not enough to cause problems, because one working copy of “CFTR” does all the work to cover for the other copy. People with only one copy of the dysfunctional gene are called carriers. In some populations, more people are carriers. E.g., in SA Caucasians, 1 in 20 people are carriers. This is the highest of all SA population groups (photo 3).

This is a global condition, and there are some really great support/information pages that I have tagged if you want to learn more. And if you haven’t already seen it, I highly recommend the 2019 movie “Five Feet Apart.”

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