General Information about Cystic Fibrosis 

Cystic Fibrosis (CF) is a condition with which some babies are born. 

It is not caused by any previous illness suffered by one of the parents or by anything that happened during the mother's pregnancy. It is non-contagious.

Cystic Fibrosis is an inherited disorder.  A baby can only be born with the disease if both parents carry the abnormal gene.

Normally the mucus in our bodies is thin and slippery and works as a lubricant. In CF, the mucus becomes very thick and sticky, blocking the tiny tubes and ducts of various organs. In approximately 90 per cent of patients the ducts in the pancreas are blocked, and so digestive enzymes produced by the pancreas are unable to flow into the digestive tract.

Mucus may also block the tiny bronchial tubes in the lungs causing shortness of breath and a chronic cough.  Recurrent respiratory infections, and malabsorption due to pancreatic insufficiency are the major clinical manifestations of the condition.

» Why is it called Cystic Fibrosis?

When the condition was first discovered, it was thought that the main effect of this condition was on the pancreas, an organ in the body which produces digestive juices. The pancreas in children with Cystic Fibrosis contains cysts and increased fibrous tissue, hence the term Cystic Fibrosis of the pancreas. It is now realised that the effects on the pancreas are only one aspect of the condition which is commonly termed Cystic Fibrosis or CF.

» How is Cystic Fibrosis diagnosed?

In New Zealand the National Testing Laboratory has been screening all new-born infants for Cystic Fibrosis since mid-1981, using the Guthrie Heel Prick Test.  The test, usually carried out 48 hours after birth, samples blood from the baby's heel and screens it for rare metabolic disorders.  One of these tests measures the amount of pancreatic enzymes in a baby's blood.  This measurement of pancreatic enzyme levels is not a definitive diagnosis, but indicates the babies that potentially have Cystic Fibrosis. If the level of enzymes is abnormal, another sample from the same blood card will be used to test for the four or five most common mutations causing Cystic Fibrosis in New Zealand.

If your child has been identified as potentially a person with Cystic Fibrosis by the Heel Prick Test, a 'sweat' test will be performed to determine the likelihood that they have the condition.

The sweat test involves stimulating a small area of the skin to produce sweat, which is analysed for sodium and chloride (common salt). In Cystic Fibrosis there is an excessive concentration of salt in the sweat. The sweat test will usually be performed at least twice.

To view a short film about the sweat test, produced by the US Cf Foundation, click here http://www.youtube.com/watch?v=8UCWoz6gUp8

A full blood sample will be taken for analysis to determine which gene variant the patient has.  A test for pancreatic insufficiency will also usually be performed.

Now with the ability to screen for several of the more common CF mutations, it is possible to determine (on most occasions) that a child does or does not have Cystic Fibrosis. However in about 1-2 percent of cases it is still difficult to be absolutely sure based on these tests alone.

Apart from new-born screening, other factors which may lead to further investigation are symptoms of pneumonia, or malabsorption, meconium ileus (obstruction of the bowel in the new-born) and an older brother or sister with the condition.

» Is Cystic Fibrosis inherited?

Yes, it is inherited - that is, it is passed from the parents to the child. Many of our body features, such as hair colour, colour of our eyes, our height, are inherited, or in other words they are determined by genes passed from the mother and father. We all have many millions of genes which are very small particles in the body cells which carry all the information about inherited features. All genes come in pairs, one inherited from each parent. Thus we have a pair associated with the colour of our eyes, another with hair colour.

Both parents of a child with Cystic Fibrosis have an abnormal gene in one of their gene pairs. The parents are called 'carriers'. This single abnormal gene does not cause them any ill effect. If two carriers have children, they may pass their abnormal genes on to their children. If each parent passes on the abnormal gene, the child will have two abnormal genes and so have Cystic Fibrosis. There is a one-in-four chance of this occurring. There are two chances in four that the child will receive one abnormal gene and so will be a carrier, like the parents. There is a one-in-four chance that neither parent will pass the abnormal gene to the child and so the child will neither have nor be a carrier of Cystic Fibrosis. These chances apply to each pregnancy, so having an affected child does not change the risk for the next. The incidence is exactly the same for girls and boys. View Inheritance diagrams

The most common genetic variant causing Cystic Fibrosis is called dF508, and it accounts for between 50-80 percent of all cases of the condition. However researchers have now identified more than 600 other variants of the CF gene responsible for the condition. Most individuals with Cystic Fibrosis in New Zealand have at least one copy of the dF508 variant.

» How common is Cystic Fibrosis?

Cystic Fibrosis occurs in peoples of Caucasian origin, but it is rare in Africans, Asians and Polynesians. In New Zealand, it is estimated that about 1 in 25 of the Caucasian population will be a carrier of the abnormal gene, and therefore about 1 in 625 marriages will be between two Cystic Fibrosis carriers.

Of all births in New Zealand, 1 in 3000 - 3,500 infants born will have Cystic Fibrosis. Currently there are more than 500 children and adults with Cystic Fibrosis in New Zealand.

» Can carriers be identified?

Carriers have no features of Cystic Fibrosis and are usually healthy individuals. Being a parent of a child with Cystic Fibrosis is the usual way that carriers of the abnormal CF gene are identified. It is now possible to test for carriers of Cystic Fibrosis. This is advised for close relatives in a family where a person with Cystic Fibrosis has already been identified. Your doctor or paediatrician can, however, arrange for the necessary blood tests to be performed.

» Are all children similarly affected?

No, there is a great variation in the effects of Cystic Fibrosis. A few children have adequate digestive juices to digest normal food, but most have to take a special enzyme preparation to aid their digestion. Some children have a persistent cough while others suffer from very few chest infections. Even in one family, one affected child can be troubled much more than another. The reason for this variability is an unknown factor about the condition. Sometimes it is possible to trace the variability in the features of Cystic Fibrosis to the type of variant causing the disease. A small number of variants are known to be associated with nearly normal pancreatic function. Sometimes these people also seem to have milder chest problems. 

» New Diagnosis

If your child has just been diagnosed with Cystic Fibrosis, if you have just had a diagnosis or there has been a diagnosis in your family, please ring our helpline where you can talk to someone and request our Newly Diagnosed Pack. Phone CFANZ National Office on 0800 651122.   

» Living with Cystic Fibrosis

The impact of CF on family life means that practical advice and emotional or financial support is important. Coping with CF at the time of diagnosis and other stressful occasions can be a challenge. The CF Association's Support Service provides practical and emotional support, information and help with the Ministry of Health system of supports, WINZ entitlements and practical help. Call us on 0800 65 1122 for information, advice and support on any aspect of Cystic Fibrosis.

» Physiotherapy

Chest physiotherapy is one method of clearing the thick, sticky mucus from the lungs. Physiotherapy is important because it helps to prevent the thick, sticky lung secretions from blocking the air tubes, helping to reduce infection and prevent lumg damage. Parents are taught how to do physio for their child by the Physiotherapist in the CF clinic. Adults with CF can learn various techniques to administer their own physiotherapy.

There are a wide variety of airway clearance techniques and a Specialist CF Physiotherapist will assess a person with CF and advise on the most appropriate technique to use, also on the length and frequency of treatment sessions. The technique used may change as you get older or as your condition progresses. The number of physiotherapy sessions that take place each day varies according to the person's current state of health.  The length of each session will vary from 15 minutes to an hour.

Some techniques are carried out without any equipment and focus on specific breathing exercises, whilst other techniques use devices to aid clearance of mucus.  Either by using positive pressure to hold open the airways, or some also create vibrations within the airways.

» When should Physiotherapy start?

Physiotherapy should start from the time of diagnosis

» Who should do Physiotherapy?

At first, the adults that care for the child should do it. In time, relatives or friends should learn so that no one person becomes indispensable.

Breathing exercises can be introduced in the form of a game from the age of two or three. From around the age of nine, most children can start doing part of their physiotherapy for themselves. Most teenagers become completely independent and usually only require help if they have increased secretions.

» Nutrition

In many people with Cystic Fibrosis, the small channels that carry the digestive juices from the pancreas become clogged with sticky mucus. The enzymes then build up in the pancreas, which becomes inflamed and damaged over time.

The effect of Cystic Fibrosis on the pancreas varies from person to person and around 5-10% of people with CF retain some useful function. Most people have to take an enzyme supplement to help digest food.

Because of the difficulty in digesting food efficiently, people with CF often struggle to maintain a 'good' body weight. A good body weight can help people to fight chest infections and help the body have reserves should they start losing weight when they are ill.  The right diet for people with Cystic Fibrosis is high in energy (calories), but the exact amount will vary by age, health and from person to person.  Your hospital dietitian will advise you about an appropriate diet.

» Exercise and Cystic Fibrosis

Physical activity is an important part of the treatment process. Exercise is particularly important for people with CF as it prevents deterioration of the lungs and improves physical bulk and strength. Children with CF should be encouraged to take part in as much physical activity as possible - ideally types of exercise that make you out of breath such as running, swimming, football or tennis.

It is important to inform teachers at school that exercise should be encouraged, as they may be unsure whether exercise is good for people with Cystic Fibrosis.

Your hospital physiotherapist can advise you on the right exercises and activities.

» Cystic Fibrosis at School

It is important to remember that CF affects each child in different ways with varying degrees of severity. Each child's health can change considerably from month to month or even from day to day. There are some symptoms that may be particularly relevant at school.

The most noticeable feature of CF is a persistent cough. Although it is not infectious, it may be embarrassing in front of other children, especially as a severe coughing attack occasionally leads to coughing up mucus or vomiting.

Parents or other carers may have to come into school to help their child with daily physiotherapy, And nebuliser treatment may also be necessary.

As CF causes malfunctioning of the pancreas, special supplements need to be taken with all meals and snacks. These are available in capsule form and are often taken in large quantities. In view of the current school policies regarding eating 'healthy' diets, the typical CF high calorie diet may make your child feel different.  Talk to your dietitian of CFANZ Fieldworker for ideas to make this less obvious, if your child is having a problem.

» Education

Children with CF are as academically able as their peers, so teachers should expect similar standards, but hospitalisation or chest infections can result in prolonged absence from school, so extra help may be needed to catch up with the rest of the class.

Examining boards make certain allowances for pupils with Cystic Fibrosis.

Some older children take advantage of portable intravenous antibiotic equipment, which enables them to attend lessons more regularly.

Physical exercise is beneficial for children with CF so they should participate in games and PE lessons. Illness can result in loss of energy, which should be taken into consideration.

» Tertiary Level Education

As people with CF are living longer, healthier and more independent lives many more are now undertaking higher education.

Going to university can enable you to realise academic potential, broaden your career prospects, secure financial independence and achieve personal satisfaction. It also offers the chance to make new friends, think differently about yourself and the world and have a great time!

Although CF will not prevent you from going to university, there are issues that you should consider when deciding where to apply as it is important to ensure you are able to continue with all of your treatments and care routines whilst away from home. Talk to your CF Field Worker about options and strategies to keep you well during your time at study.

» Cross-infection

As most people with CF are affected by chest infections caused by specific types of bacteria, it is important to try and limit the spread of these bacteria through the CF community.  It is good policy for people with CF to avoid close contact with other people who have CF.

Don't be insulted should someone with CF not shake your hand, or chooses to stand further away whilst conversing with you.  This helps them to keep themselves healthy.  It is not that you are contagious, but the they may be more susceptible to infection by ordinary bacteria present on all of us.

» Adulthood

Now that adults with CF are living longer (CFANZ membership is, for the first year, over 50% adults - 2010) they can plan on leading full lives: education, work, travel and family; whatever any adult can choose to do.

Adults with CF may need to plan their options more carefully but there should be few restrictions on what they choose to do.  Obviously keeping good health should be a priority, and any lifestyle changes that will affect this should be discussed with your CF team.

CFANZ has produced a guide which specifically addresses the issues faced by adults with CF in New Zealand, and discussed some of the choices available.  The Adult Guide is available online or a hard-copy can be obtained by contacting the National Office.