Cystic fibrosis

Cystic fibrosis is a condition caused by genetics, meaning a person is born with it. Cystic fibrosis causes sticky mucus to build up in a person’s organs, including the lungs, pancreas and liver, which means the organs cannot function properly. There are many other potential symptoms of cystic fibrosis, and each person with the condition will be affected differently.

There are around 11,000 people in the UK with cystic fibrosis, and it affects both males and females of all ethnic groups, although it is most common in white people. Each day, around 5 babies are born with cystic fibrosis in the UK. There are lots of treatments for cystic fibrosis, which can help relieve symptoms and help a person have a good quality of life. Many people with cystic fibrosis live well into adulthood and are able to go to school, college, work, get married and do the things that people without the condition do.

Many people now live to the age of 50.

Read more about cystic fibrosis.

Cystic fibrosis is a genetic condition, which means the faulty (mutated) genes that are responsible for cystic fibrosis are passed on from parents to their unborn child. Some parents will both have a faulty gene even though they themselves do not have the condition.

Sometimes, one parent may have cystic fibrosis, and the other just carries the faulty gene, and sometimes both parents may simply be carriers of the faulty gene. In each of these cases, there are different chances of the child having cystic fibrosis.

The genes that cause cystic fibrosis are responsible for making proteins that create cells within the body function. The particular cystic fibrosis gene mutations affect the CFTR protein that makes salt and water move into and out of cells, and this is what affects the body’s over-production of mucus. There are lots of different types of cystic fibrosis mutation, which present as different cystic fibrosis symptoms.

Read more about what causes cystic fibrosis and the importance of genes.

The main symptom of cystic fibrosis which is fairly common amongst those living with the condition, and which is most often associated with the condition, is related to the lungs. Cystic fibrosis affects the respiratory tract because a person with the condition produces thicker mucus in their lungs than is normal in a healthy body. Some people with cystic fibrosis may also experience constant coughs, wheezing, and reduced lung function that makes breathing difficult. The mucus clogs the airways and bacterial infections may become common. The lungs can become damaged due to the build-up of mucus, which affect delicate parts of the lung called the cilia.

Read more about the effects of cystic fibrosis on the lungs.

There is a constant risk for people with cystic fibrosis, as they may be more likely to catch viruses and these may cause a serious infection. People with cystic fibrosis are strongly advised not to be in physical contact with one another, because they each may harbour bacteria that would be particularly harmful for someone else with the condition.

Read more about the risks of cross infection.

This is an extensive list, and includes most cystic fibrosis symptoms, but every person with the condition is an individual and may experience only a selection of these symptoms depending on the type of cystic fibrosis they have. Find out more about how cystic fibrosis affects the body.

Some time ago, a cystic fibrosis diagnosis would have been made later in a person’s life, when symptoms were noticed. However, in the UK nowadays, newborn babies undergo a screening test in the first week of their life, which explores whether they have a set of diseases, one of which is cystic fibrosis. The test involves a ‘heel prick’ to obtain a blood sample which is then tested. This test may indicate that a baby has cystic fibrosis genes and further testing is then carried out to confirm if the child has the condition. A sample of the baby’s sweat is obtained and tested for levels of salt within the sweat, which is an indicator of cystic fibrosis. Read more about diagnosis of cystic fibrosis in babies.

Some adults who were born before newborn screening was implemented, or who were born in the 80s/early 90s before testing was accurate, may be diagnosed in adulthood or may have been misdiagnosed as having other health conditions. If you are concerned you may have symptoms of cystic fibrosis, visit your GP to discuss these.

Someone with a cystic fibrosis diagnosis, and their family, may undergo genetic testing to confirm the particular genetic mutation they have, and also to confirm who carries the cystic fibrosis gene. Read more about genetic testing for cystic fibrosis.

There are different categories of cystic fibrosis which are determined by the type of genetic mutations a person has. The mutations that occur within a gene mean that the gene will make the body’s proteins work in a certain way, and this will cause different cystic fibrosis symptoms. There are thousands of possible mutations and these are categorised broadly into 5 groups. Read more about the genetic mutations that cause cystic fibrosis.

Sometimes, a person’s lungs can become so damaged by the condition that they are no longer functioning properly, which may have a huge impact on their daily life and health. In such cases, a person may be considered for a lung transplant, where both of the lungs are replaced by donor lungs. This is a serious undertaking and there are lots of issues to consider, such as being on a transplant list for some time, the risks and after effects of such major surgery, and the fact that living with transplanted lungs is likely to result in regular, life-long medical checks. Similarly, if a person’s liver is damaged by cystic fibrosis, they may be recommended to have a liver transplant. Read more information on organ transplants as treatment for cystic fibrosis.

Cystic fibrosis affects day-to-day life in many ways, including:

Daily living aids can be useful products for people who have chronic health conditions or disabilities. At NRS Healthcare, we are experts in daily living aids, and our specialist team of Occupational Therapists can advise on suitable products that could help with various daily tasks.

If you are unsure what cystic fibrosis products may help you, contact our friendly and knowledgeable Occupational Therapist Product Advice team for free by telephoning 0345 121 8111 or emailing productadvice@healthcarepro.co.uk

Diet for cystic fibrosis is really important for helping to manage the condition.

Cystic fibrosis often affects a person’s digestive system, specifically the function of the pancreas. The pancreas is responsible for releasing enzymes into the gut to help break food down, and also to regulate blood sugar levels.

In a person with cystic fibrosis, the pancreas becomes blocked with excess mucus and can become scarred, resulting in these two key functions of the organ being affected. This can lead to food not being broken down properly and some foods being particularly difficult to digest, such as fats.

Some people with cystic fibrosis may also develop diabetes, because the pancreas is unable to produce enough insulin to manage blood sugar correctly. Read more about diabetes caused by cystic fibrosis.

Some children and adults with cystic fibrosis find that they are underweight, which may be due to the condition causing them to burn more energy than they take in from food. Lung infections and persistent coughing means more calories are needed to give the body energy to fight the infection and physically cough. Digestive issues can also mean that calories and nutrients are not absorbed correctly. Cystic fibrosis symptoms may affect a person’s appetite, which can lead to not eating enough.

A cystic fibrosis diet therefore needs to ensure a healthy balance of nutrients but also that ample calories are consumed, which may mean increasing the amount of fat eaten.

Research shows that people with cystic fibrosis who eat a well-balanced diet and who are a healthy weight, actually have better lung function than those who are underweight, so diet for cystic fibrosis is an important factor in managing and treating the condition.

Read more about nutrition and diet for cystic fibrosis.

Cystic fibrosis exercise is really important because physical activity helps improve lung function by moving mucus from the lungs. Exercise also helps improve mood, reduce anxiety, build strength in the muscles, make bones stronger and keep joints flexible.

It is important for parents of a child with cystic fibrosis to instill physical activity from a young age and make it a priority during childhood. Exercise for those living with cystic fibrosis should involve cardiovascular exercise that gets the heart pumping, such as team sports, running, swimming and so on. Exercise helps maintain bone strength, which is important for people with the condition because they may be at risk of osteoporosis and related issues. Cystic fibrosis exercise should also include stretches that help the joints stay flexible- yoga and Pilates are excellent choices.

A physiotherapist may be able to put together a programme of exercise for cystic fibrosis patients.

Read more about being active when you have cystic fibrosis.

Living with a cystic fibrosis diagnosis does not mean that a person is unable to work – many people with the condition do work and have careers. Cystic fibrosis symptoms may cause some issues at work such as needing time off for medical appointments, but employers are legally obliged to permit these and ensure reasonable adjustments are made to allow a person with the condition to carry out their job safely and comfortably. With health as their main priority, a person living with cystic fibrosis may be unable to do certain jobs - for example, keeping their lungs healthy is really important so they may need to avoid careers where chemicals, dusts, smoke or other potentially lung-damaging inhalants are used.

Read more information on cystic fibrosis and work here.

Cystic Fibrosis Facebook Support Group – a Facebook support group for anyone who has cystic fibrosis, or their families, to share experiences, ask for informal advice and talk freely about the condition

Cystic Fibrosis Trust Forum – an online community for people to share their experiences of living with cystic fibrosis or raising a child with cystic fibrosis

British Lung Foundation – a charity supporting people with a variety of lung conditions including cystic fibrosis, featuring information on the condition as well as how to care for the lungs generally; a helpline is also available

Cystic Fibrosis Foundation – a US charity that supports people with cystic fibrosis with advice, information and research

Cystic Fibrosis Trust – the leading CF charity, providing information and advice about the condition, including symptoms, treatments, practical matters, research projects, as well as an advice helpline

NHS – source of official medical advice and information about cystic fibrosis symptoms, treatments and living with the condition