Cystic fibrosis

Most babies born in Aotearoa New Zealand are screened for CF at birth and are generally diagnosed before any symptoms develop. If a child has missed routine screening, symptoms at birth can include:

• salty tasting skin
• slow weight gain or failure to thrive even with a good appetite
• wheezing, coughing and pneumonia
• abnormal bowel movements.

For a small number of babies, the first symptom of CF is a blocked intestine at birth, known as meconium ileus. Meconium is the thick, sticky black secretion from a baby’s bowel, usually passed within 24 hours of birth. In some babies with CF, the meconium is too thick to pass and blocks their intestine. They need enemas (a laxative solution put into their bottom) or surgery to remove it.

When we don’t have CF, our bodies make mucus that is thin and slippery and works as a lubricant to help protect us from infections and to keep the inside of our body working well. If we have CF, our mucus becomes thick and sticky and blocks the tiny tubes of many of our organs.

CF causes the body to produce thick, sticky mucus which affects the lungs, liver, digestive system and other parts of the body. The type and severity of symptoms varies between individuals – some people with CF remain well for a long period of time with minimal symptoms or hospital admissions, while others require more intensive medical care.

Lungs

In your lungs, the sticky secretions are difficult to cough up and viruses, bacteria and fungus can become trapped under the mucus. This can cause inflammation and infection, often causing a chronic cough and repeated chest infections. People with CF also have a much higher risk of developing serious complications from bugs that are generally harmless to other people. Most people with CF will develop some lung damage over time.

Digestive system

In your digestive system, thick secretions also block the flow of digestive enzymes from the pancreas to the duodenum (top part of the intestine), where they’re needed to help break down food. Without these enzymes, fats and vitamins can’t be absorbed. This causes problems with malnutrition and poor weight gain.

The lack of digestive enzymes in the duodenum caused by thick mucus causes:

• malnutrition due to malabsorption
• poor weight gain
• frequent, foul-smelling, greasy bowel motions
• stomach aches
• excessive wind.

Some people with CF may also develop cystic fibrosis related diabetes (CFRD). 

Read more about nutrition and cystic fibrosis(external link).

Most babies in Aotearoa New Zealand are tested for CF through the Newborn Metabolic Screening Programme, often referred to as the Guthrie Heel Prick test. This test, usually carried out about 48 hours after birth, uses a blood sample taken from a baby’s heel and screens it for rare disorders, including CF.

If the results show the baby may have CF, a  second heel prick test will be done. Other tests of the baby’s sweat, poo and blood will be done to confirm the diagnosis. Read more about how CF is diagnosed(external link).

Every day, usually twice a day, a person with CF needs to do chest physio to help keep their lungs clear of mucus. This can take 20 to 40 minutes each time but it can be longer if they're unwell. Chest physio is usually done in the morning, for example before school or work, and before bed.

Read more about physiotherapy for CF(external link).

If you have advanced cystic fibrosis, you may need to have a lung transplant. A lot of testing and assessment is needed to make sure you’re eligible. Read more about lung transplantation(external link).

Most people with CF need to take pancreatic enzyme capsules with meals and snacks to help them digest their food and absorb nutrients, eg, Creon®.

Medicines used in the treatment of CF include:

• antibiotics
• bronchodilators
• vitamin supplements
• insulin for those with cystic fibrosis-related diabetes CFRD.

CFTR Modulator Therapies

Until recently, medicines for CF treated only the symptoms of this condition. However, there are now medicines called CFTR modulator therapies that treat the cause of CF by correcting the defects in the CF gene. Two CFTR modulator therapies are now publicly funded in Aotearoa New Zealand.

One of these modulator therapies (Trikafta) targets the defects in the F508del CF gene mutation but also works for a wide range of other mutations. It's currently  funded in Aotearoa New Zealand for people with CF who have eligible mutations and who are 6 years of age and older. 

Trikafta has been shown to provide significant improvements in lung function, weight gain, quality of life and increased life expectancy, and may help to delay the progression of the condition in younger people. CTFR modulator therapies have changed the lives of many people with CF providing them with a much brighter future.

Read about how CF is managed with treatment and medication(external link).

Read more about CFTR modulator therapies(external link).