Living with cystic fibrosis living

Overview

Cystic fibrosis (CF) is a condition you are born with. It causes the body to make thick, sticky mucus that can clog the lungs and block the digestive system. It can make breathing hard and affect the way the body absorbs food.

No, it is rare. In the UK, about 1 in 2,500 babies is born with cystic fibrosis. But it is one of the most common inherited conditions in people of northern European ancestry.

Cystic fibrosis affects people of all genders and races, but it is most often diagnosed in white people of northern European descent. In most cases, symptoms start in childhood, but some people are diagnosed later in life, especially if their symptoms are mild.

Symptoms

Common symptoms

• a persistent cough that can bring up thick mucus (phlegm)
• wheezing or shortness of breath
• frequent chest infections, such as pneumonia or bronchitis
• salty-tasting skin
• poor weight gain, even with a good appetite
• very oily, bulky, and foul-smelling stools
• difficulty passing stools (constipation)

Symptoms in children

• delay in the first bowel movement in newborn babies (meconium ileus)
• difficulty gaining weight or growing
• frequent chest infections and lung flare-ups
• persistent cough, sometimes with thick mucus
• large, fatty stools

Symptoms in older adults

• Many adults have the same symptoms as children, but some people are only diagnosed in adulthood because their symptoms are milder.
• Adults may also experience complications such as diabetes, thinning of the bones (osteoporosis), or sinus problems.

Causes

Main causes

• Cystic fibrosis is caused by a change (mutation) in a gene called the CFTR gene. This gene controls the movement of salt and water in and out of your cells.
• A person needs to inherit two changed copies of the CFTR gene — one from each parent — to have CF. People with only one change are called carriers and usually do not have the condition.

Risk factors

• having a family history of cystic fibrosis
• having parents who are both carriers of the CFTR gene change
• being of northern European ancestry (though it can affect any ethnic group)

When to see a doctor

See a doctor urgently if:

• See your CF care team promptly if you have a fever, an unusual increase in chest symptoms, or are feeling too unwell to eat or take your medicines.

Book a routine appointment if:

• You will usually have regular check-ups with a specialist CF team. These appointments are important for keeping your lungs and nutrition healthy.

Diagnosis

Cystic fibrosis is often found during newborn screening in many countries. In this test, a small drop of blood is taken from your baby's heel and tested. Sweat tests and genetic tests can also be used, especially for older children and adults.

Tests that may be done

• Newborn blood spot test
• Sweat test — measuring the amount of salt in sweat
• Genetic test — checking for changes in the CFTR gene
• Other tests such as a chest X-ray, lung function tests, or stool tests may also be done.

What to expect at your appointment

If you or your child is diagnosed with CF, you will be introduced to a specialist CF team. They will explain everything and work with you to create a personal care plan. Most people with CF today are diagnosed in childhood and grow up with a team they know well.

Treatment

Treatment for cystic fibrosis is a team effort. It aims to keep the lungs clear, prevent infections, and make sure the body gets enough nutrition. The best care is usually provided by a CF centre — a team of doctors, physiotherapists, dietitians, nurses, and pharmacists who specialise in CF.

Self-care at home

• Do your airway clearance every day — this helps to loosen and clear thick mucus from your lungs.
• Take all your medicines exactly as advised by your CF team, including pancreatic enzymes with every meal (these help you digest food).
• Drink enough fluids to keep mucus thin, and eat a high-energy, high-protein diet.
• Avoid tobacco smoke and try to keep away from people with colds or flu.
• Keep your vaccinations up to date, including the seasonal flu jab and any recommended vaccines for respiratory infections.

Medical treatments

Medical care for cystic fibrosis usually includes several treatment approaches: regular chest physiotherapy to keep lungs clear; medicines that thin mucus or help it be coughed up; antibiotics to treat lung infections; pancreatic enzyme pills to help digest food; extra fat-soluble vitamins; and newer therapies called CFTR modulators, which target the underlying gene defect rather than just the symptoms. The exact combination is different for every person. Your CF team will explain what is right for you.

When is surgery considered?

Surgery is not needed for most people with CF. If the lungs become severely damaged, a double lung transplant may be considered. In rare cases, surgery on the kidneys, liver, or digestive tract may also be recommended.

Living with this condition

Living with cystic fibrosis takes time, but it is a routine that can become a normal part of your life. Many people set aside specific times for treatments, such as after breakfast and before bed, and plan around school, work, and family activities. It can help to involve your family and close friends so they understand your needs.

Lifestyle tips

• Stay active — exercise is one of the best ways to clear mucus and keep your lungs strong.
• Rest when you need it, especially during a chest infection.
• Plan ahead when travelling, including booking appointments at CF centres if you need them.
• Join a CF community or support group to meet others who understand your experience.

Diet and exercise

Most people with CF need extra calories and protein because the condition makes it harder to absorb nutrients. A dietitian can help you plan meals. You might need to eat more than other people of your age and use pancreatic enzymes with meals. Exercise — like walking, swimming, cycling, or attending regular lung function training — helps clear mucus and strengthens the muscles you use to breathe.

Mental health and emotional wellbeing

Living with a long-term condition can be emotionally hard. It is normal to feel anxious, stressed, or low at times. Your CF team should check on your mental health as part of your care, and you can ask for extra support if you need it. Talking to a counsellor or joining a support group can make a big difference.

Prevention

Cystic fibrosis cannot be prevented because it is a genetic condition you are born with. If you have a family history of CF, genetic testing can help you understand your risk of passing it on. Genetic counselling can explain your options if you are planning a family.

Vaccines

Keeping up to date with vaccinations is very important for people with CF. Vaccines to protect against flu, pneumococcal infection, and COVID-19 are especially recommended. Your CF team will tell you which vaccines you should have.

Screening programmes

In many countries, newborn screening checks every baby for CF as part of the heel prick test. If you have a family history, carrier screening can be offered during pregnancy or before pregnancy.

Complications

If left untreated

• Repeated lung infections that can damage the airways over time
• Difficulty preserving lung function and physical strength
• Malnutrition and poor growth because the body cannot absorb food properly
• Higher risk of diabetes, thinning bones (osteoporosis), and liver disease

Long-term outlook

The outlook for people with cystic fibrosis has improved dramatically over the past few decades. Thanks to earlier diagnosis, better treatments, and organised care from specialist teams, many adults with CF work, study, raise families, and enjoy full and active lives. There is ongoing research, and newer treatments are continuing to change what is possible.

Find support

International organisations

• Cystic Fibrosis Foundation ↗

Local organisations

• Cystic Fibrosis Trust ↗ · UK

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