Cystic fibrosis in children: screening, daily treatment and what care involves

The NHS describes cystic fibrosis as a rare inherited genetic condition that causes breathing and digestive problems. NHS inform explains that the faulty gene means some cells struggle to move salt and water across the cell wall, which together with recurrent infection leads to a build-up of thick sticky mucus in the lungs and digestive system. It is present from birth and cannot be caught from someone else who has it.

Neither parent usually has the condition, because each carries one working copy and one altered copy of the gene. Both the NHS and NHS inform describe the 1 in 4 chance when two carriers have a baby, and NHS inform says around 1 in 25 people in the UK are carriers.

Cystic fibrosis is one of the conditions all babies are checked for with the newborn blood spot test, says the NHS, which advises telling the person taking the test if anyone in the family has cystic fibrosis. The UKHSA programme overview lists it among the screened conditions. NHS inform explains that the test collects blood from the baby's heel, and that because screening is not 100% accurate, further tests follow.

If the test suggests cystic fibrosis, the NHS says the baby will have a sweat test to measure salt, which is usually high. NHS inform adds that a genetic test on blood or saliva may be used if the sweat test is inconclusive or to identify the specific fault. Older children and adults who may have it are tested with a blood test followed by a sweat test.

The NHS lists lung symptoms such as a persistent cough with mucus, wheezing and breathlessness, and frequent sinus and chest infections; digestive symptoms such as constipation, stomach pain, bloating and large, greasy, sticky poo; and in children, not growing as quickly as expected. Very salty sweat that leaves crystals on the skin and swollen fingertips and rounded nails can occur. NHS inform adds a serious bowel obstruction in the first days of life (meconium ileus) in some babies.

The NHS says that if the condition goes undiagnosed, symptoms may only become noticeable when a child is a teenager. It says to see a GP for a child with symptoms who has not been diagnosed, or if worried about growth and development.

The NHS lists CFTR modulators, which help the lungs work better by reducing the effect of the altered gene on cells, medicines to widen the airways or make it easier to cough up mucus, antibiotics for infections and steroid medicine to reduce airway inflammation. NHS inform lists mucus-thinning medicines such as dornase alfa, hypertonic saline and mannitol powder. Which medicines suit a child depends on their genetic type and clinical picture, and are decided by the cystic fibrosis team.

Physiotherapy teaches ways to clear mucus and improve posture, devices such as inhalers and masks help with breathing and clearing mucus, and a dietitian advises on a high-energy diet and supplements. NHS inform adds that digestive enzyme capsules are usually taken with all meals and snacks, that the number depends on the food eaten, and describes airway clearance techniques including the active cycle of breathing technique and autogenic drainage.

The NHS advises regular handwashing with warm water and soap and considering not meeting other people with cystic fibrosis face-to-face, because there is a higher risk of catching serious infections from another person with the condition, and says people with cystic fibrosis should try to avoid close physical contact with each other. Charities can put people in touch remotely. NHS inform says families should keep routine vaccinations up to date and have the annual flu jab once old enough.

The NHS lists diabetes, liver disease, infertility, osteoporosis and lung damage as possible problems, some of which develop later, and says there are treatments for many. A lung transplant may eventually be needed for some people if other treatments are not controlling symptoms, though it is not suitable for everyone. The NHS says living with cystic fibrosis can be hard, but it does not always mean being unable to go to school, have a family or get a job, and that it requires life-long care. NHS inform notes that the condition tends to get worse over time and that outlook has improved considerably; figures for life expectancy in older material may be out of date, so ask the care team.