Faculty friday| 2019-11-22 Ortó Eszter

Cystic fibrosis

Cystic fibrosis is inherited in an autosomal recessive manner, caused by a mutation of the CFTR gene, otherwise responsible for mucus production. This results in the exocrine glands producing an excessively dense mucus, which mostly affects the GI tract and the lungs. This dense mucus can potentially block the excretory ducts of glands (e.g. in the pancreas and stomach), thus preventing the proper excretion of digestive enzymes. It can also ‘stick’ to the airways which causes dyspnoea. Here are a couple of interesting facts about this disease.

Five feet apart is a novel (based off of which a movie has also been made) about two young people both suffering from CF, who, although attracted to one another, are not allowed to touch. This is based on the real danger that people suffering from CF are more susceptible to have pathogens settle in their lungs – these pathogens are obviously not exactly the same ones in different patients, so they pose a very real threat to each other. It is therefore advised that they don’t interact with each other to prevent cross-contamination.

The disease used to be referred to as sixty-five roses disease, which comes from a mother, Mary Weiss, who realised that all three of her children suffer from CF. She did all she could to help them, then, one day, her 4-year-old son realised ‘what she was spending all her time on’ – 65 roses.

Only until a few years ago, the average life expectancy for children born with CF was 5 years. Luckily, several advances have been made since then, and thanks to these medications, they can even reach 50 years or more. Despite this, their average life expectancy is unfortunately still only about 31 years.

An interesting but unproven theory is that Frédéric Chopin also suffered from the disease. He lived 140 ago, and the physicians of the age diagnosed him with TB, even though the symptoms didn’t match the classic diagnosis of tuberculosis. Despite his 170-cm height, Chopin only weighed 45 kg, and he suffered from chronic coughs and frequent respiratory infections. We probably won’t ever know the real diagnosis, but it is important to note that his sister died at 14, and she probably had CF (as well).

Although patients suffering from CF are in a difficult position, some have shown extraordinary strength and overcame its obstacles to conquer certain milestones. Walter van Praag, for example, managed to ride his bicycle all the way from Paris to Istanbul, and even wrote a book about it. Ian Pettigrew is a renown photographer with CF, and he has done photoshoots and campaigns to raise awareness as well.