Cystic Fibrosis is a genetic disease that mainly affects the lungs and often causes problems in the pancreas, liver, kidney and intestines. CF causes a build up of mucus in the lungs and sufferers experience respiratory problems, frequent lung infections, clubbing of the feet and hands, growth problems and infertility.
There are hundreds of thousands of people in the World who have 1 CF gene, these people are called ‘carriers’ and do not suffer from the disease, when two ‘carriers’ reproduce there is a 25 percent chance that their infant will take both genes and end up with CF, a 50 percent chance that they will be a carrier and a 25 percent chance that they will neither be a carrier nor a sufferer. Currently there are around 100,000 sufferers of CF in the World and whilst medical advancements have improved treatment, there is still no official cure.
Symptoms of CF patients range from salty-tasting skin, frequent lung infections, regular shortness of breath, poor growth, persistent and/or violent coughing and difficulty with bowel movements. Not all sufferers will experience all of these symptoms at first but the longer the disease is undiagnosed, the more likely the symptoms will be.
More than 75% of CF patients are diagnosed by the age of 2 as most new borns are screened for the disease. The diagnosis involves a sweat chloride test alongside a full evaluation at a specialist CF centre. As a result of the screening of new borns in many countries, treatment can begin rapidly and ensure a higher quality of life than those that are diagnosed later into their adult years.
There is a range of treatment available to CF patients, all with the intention of minimising symptoms and providing comfort and a healthier life. Treatments range from person to person and can include inhalers and respiratory devices that will help to clear the airways on a daily basis and aim to prevent the build-up of mucus; supplements that help the pancreas absorb more nutrients from food and drinks; and liquid medicines to help the body break down mucus.
Alongside medicinal treatments are physiological treatments to help the body work to the best of its ability. Current research is centred on both treating the condition itself and treating those who carry the single CF gene with the hope of eradicating the disease at it’s root.
Quality of Life
The median life expectancy of a Cystic Fibrosis patient is 40 years old, naturally this will differ from country to country and is often dependent on a person’s general health as opposed to the severity of the disease. Regarding day-to-day life, patients of CF can experience respiratory problems and regular infections which can affect daily tasks and there ability to exercise.
This being said, many patients carefully manage their disease and work hard to avoid areas where there are likely to be germs and take precautions to avoid infections. The disease is not debilitating and many patients live ‘normal’ lives and have the same opportunities as non-sufferers. The symptoms of the disease are always prevalent but with careful management, patients can lead a high quality life and achieve all that they desire.