What is Cystic Fibrosis?
Cystic Fibrosis (CF) is one of the UK's most common life-threatening inherited diseases.
It is caused by a faulty gene that controls the movement of salt and water in and out of the cells within the body.
Cystic Fibrosis affects the internal organs, especially the lungs and digestive system, by clogging them with thick sticky mucus. This makes it hard to breathe and digest food.
Over 9,000 people in the UK have Cystic Fibrosis.
If two carriers have a child, the baby has a 1 in 4 chance of having Cystic Fibrosis.
Over two million people in the UK carry the faulty gene that causes Cystic Fibrosis - around 1 in 25 of the population.
Over 95% of the UK CF population is Caucasian, but CF affects many ethnic groups.
Each week, five babies are born with Cystic Fibrosis.
Each week, two young lives are lost to Cystic Fibrosis.
Currently half of the CF population will live past 41 years of age, and improvements in treatments mean a baby born today is expected to live even longer.
How is Cystic Fibrosis diagnosed?
Cystic Fibrosis is increasingly being diagnosed through screening, but some babies and older children (and even adults) are diagnosed following unexplained illness.
There are three types of screening for Cystic Fibrosis: newborn screening, carrier testing and antenatal testing.
Newborn Testing
Following a campaign by the Cystic Fibrosis Trust, the National Screening Committee recommended that all babies should be screened for Cystic Fibrosis. This has now been implemented across the whole of the UK.
The test is a heel-prick to sample blood as part of the normal Guthrie test carried out on all children. The sooner CF is diagnosed, the sooner appropriate treatment can begin.
For more information please see the UK Newborn Screening Programme Centre.
Carrier Testing
A simple mouthwash test can be taken to tell if you are a carrier. This is important if a relative has CF or is a known carrier. It is very important to have the test if your partner is a known carrier.
Antenatal Testing
This test is used early in pregnancy to tell whether a baby has Cystic Fibrosis. It is usually offered to mothers who are recognised as being at a high risk of having a child with Cystic Fibrosis.
Other tests
Other tests for Cystic Fibrosis are the sweat test (people with CF have more salt in their sweat, which can be detected) or a genetic test, which is a swab taken by gently rubbing the inside of the cheek to check for the faulty CF gene.
If your partner is a carrier and you want to be tested, the genetic interest group has a useful list of services.
Symptoms of Cystic Fibrosis
Cystic Fibrosis causes the body to produce thick secretions that particularly affect the lungs and digestive tract.
Symptoms of CF can include a troublesome cough, repeated chest infections, prolonged diarrhoea and poor weight gain. These symptoms are not unique to Cystic Fibrosis.
Cystic Fibrosis affects a number of organs.
Lungs
It is common for people with CF to encounter some difficulties with their lungs. A combination of physiotherapy and medication can help control lung infections and prevent lung damage. To avoid the risk of cross-infection, it is recommended that people with CF do not come into close contact with others with Cystic Fibrosis.
Digestive system
Cystic Fibrosis affects the pancreas, which makes it difficult for people with CF to digest food. This can cause malnutrition, which can lead to poor growth, physical weakness and delayed puberty. There is medication that can compensate for the failure of the pancreas.
In older patients, insulin production can become deficient due to increasing pancreatic disease. Some develop CF related diabetes mellitus and their blood sugar levels are no longer controlled. This rarely happens to children with Cystic Fibrosis.
Common symptoms of diabetes include thirst, hunger, weight loss and excessive need to urinate, but some people do not show obvious symptoms of diabetes.
Other Affected Organs
In every ten babies born with CF, one is ill in the first few days of life with a bowel obstruction called meconium ileus. In these cases, the meconium (a thick black material present in the bowels of all newborn babies) is so thick that it blocks the bowel instead of passing through. Babies with meconium ileus often need an urgent operation to relieve and bypass the blockage.
People with CF are prone to developing bone disease (thin, brittle bones) due to the nutritional and other problems involved with the disease. Adults with CF are at an increased risk of bone disease because of the adverse effects of steroids taken to control lung disease.
Although Cystic Fibrosis does not cause sexual impotency, it can lead to fertility problems. In most men with CF, the tubes that carry sperm are blocked, which causes infertility. Because underweight women are more likely to have irregular menstrual cycles, the nutritional problems associated with CF may affect fertility. Women with CF do produce healthy, fertile eggs so effective contraception is necessary.
Cystic Fibrosis can cause the blockage of small ducts in the liver. This only happens to approximately 8% of people who have CF, but it is a serious health risk and may necessitate a liver transplant
Physiotherapy
Physiotherapy is a way of clearing the thick, sticky mucus from the lungs. Parents are taught how to do this for their child by the physiotherapist in the CF clinic. Adults with CF can learn how to administer their own physiotherapy.
Why is chest physiotherapy important?
Chest physiotherapy is important because helps to prevent the thick, sticky lung secretions from blocking the air tubes. This helps to reduce infection and prevent lung damage.
What different physiotherapy techniques are there?
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, and also on the length and frequency of treatment sessions. The technique used may change as you get older or as your disease changes. The amount of mucus you clear will also vary as your disease progresses.
Some techniques are done without any equipment and focus on specific breathing exercises:
Active Cycle of breathing Techniques (ACBT)
Autogenic Drainage
Other techniques use a device to aid clearance of mucus, by using positive pressure to hold open the airways, and some also create vibrations within the airways:
Positive Expiratory Pressure (PEP)
Oscillating Positive Expiratory Pressure - e.g Flutter®, Acapella®
Some techniques use large pieces of equipment which can be very expensive and therefore may only be available for use in hospital:
High frequency chest wall oscillation (HFCWO) - an electric air compressor connects to an inflatable jacket (vest) to vibrate your chest.
How much physiotherapy is needed?
The length of treatment sessions varies according to need. Daily physiotherapy is usually required and if you have a chest infection you may need to increase the amount of airway clearance you do. If there are few or no secretions, treatment sessions may only need to last 10-15 minutes. If there are many secretions, it could take as long as 45-60 minutes.
The number of treatment sessions should be varied. Most people do two a day when all is well, increasing to four a day when necessary. If no secretions are present, some people with CF only need physiotherapy once a day.
Your physiotherapist can advise you on how much physiotherapy is appropriate.
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 only require help if they have increased secretions.
Nutrition
In many people with Cystic Fibrosis, the small channels that carry the digestive juices 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 enzyme pills to help digest food.
A suitable diet is also very important for people with Cystic Fibrosis. 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 (kilocalories), but the exact amount will vary by age and from person to person. Further information can be found in the sections for babies, children and adults or from our publications library.
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. For more information about how CF may affect someone's schooling, see the CF at school page.
Posture and chest mobility
The spine, ribcage and shoulders should remain fully flexible as far as possible and good posture should be maintained.
Older children or adults may need to do stretching exercises to maintain full movement of the joints and muscles around the shoulders and chest.
Younger children can do the same by taking part in games or activities that involve moving and stretching the trunk and arms. Activities like wheelbarrow racing make good stretching exercises, as well as helping to drain secretions.
Your hospital physiotherapist can advise you on the right exercises and activities.
Medication for Cystic Fibrosis
Cystic Fibrosis affects the lungs and the digestive tract - these areas are likely to require medication. Infections can be cleared or controlled by a variety of drugs. Here is a guide to the most commonly used medication for people with Cystic Fibrosis.
Lungs
Medication can be administered in various ways: inhaled into the lungs using nebulisers, taken orally or taken intravenously (injected). These drugs treat the lungs in the following ways:
Bronchodilator drugs open the airways by relaxing the surrounding muscle. They relieve tightness and shortness of breath.
Antibiotics help to treat or control persistent infection.
Steroids reduce inflammation in the airways.
DNase breaks down mucus making it easier to clear
Digestive system
Cystic Fibrosis affects the pancreas, so enzyme pills should be taken with meals and snacks to replace pancreatic enzymes and enable people with CF to gain more energy from the food they eat. Your dietitian or doctor can advise you on the appropriate type/dosage of enzyme supplement.
Nutritional supplements such as high-energy drinks can also help to compensate for ineffective digestion. See the nutrition pages for more details.
Anyone suffering from CF related diabetes will need to balance food intake with appropriate diabetic treatment such as tablets or insulin.
Other affected areas
Bones can be affected by a lack of minerals, which can cause osteoporosis (weak/brittle bones). Bisphosphonates, which are used to treat osteoporosis in post-menopausal women, have been shown to be beneficial for the treatment of osteoporosis in Cystic Fibrosis.
Research is being carried out to investigate the benefits of high doses of vitamin D and calcium.
If someone with CF is having liver problems, they will be treated in the same way as other people with this condition. Promising results have been reported following early treatment with ursodeoxycholic acid.
Travel and Cystic Fibrosis
As medications and healthcare for those with Cystic Fibrosis have improved, it is now common for people with Cystic Fibrosis and their families to travel abroad. However there are some issues to consider when travelling if you or a family member has Cystic Fibrosis.
Travel insurance
Medication - including taking sufficient, sterilising tablets, salt tablets, antibiotics etc
Air travel
Oxygen
Nebulisers and voltage
Clothing
Visits to theme parks
Driving abroad
CF Centres abroad
Financial assistance
Specialised holiday funds
CF and School
This section may be helpful for teachers who have little or no experience of children with CF or for the parents of CF children who are starting or changing 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. Nebuliser treatment may also be necessary.
The number of physiotherapy sessions that take place each day varies according to the child's current state of health. The length of each session will vary from 15 minutes to an hour.
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.
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.
Social and psychological aspects
Children with CF may be teased or picked on at school because of their persistent cough and the fact that they may be underweight and small for their age. Taking tablets and capsules with their meals may also be embarrassing for them.
Physiotherapy is very time consuming, possibly to the detriment of the child's social life, though children with CF often find supportive friends who help with care and physiotherapy.
During teenage years, there is the possibility that physiotherapy and diet could be neglected. Some people with CF experience delayed sexual maturity and this may cause anxiety or insecurity.
Teenagers may require sympathetic treatment and counselling to deal with some of these issues.
Cystic Fibrosis requires a degree of special involvement from teachers. This could include consultations with parents or even practical help.
Examinations
Although children with CF are as academically as able as their peers, some may have special educational needs. Cystic Fibrosis may also prevent or hinder the child from using certain educational facilities.
The joint council for the GCSE (standing agreement number four) advises that 'Examining groups are required to take all reasonable steps to enable candidates with permanent, long-term, or temporary handicaps or indispositions to demonstrate their attainments.' This means that under suitable safeguards, a grade can be awarded if a candidate is absent from an exam for legitimate reasons. Additional time may be permitted (normally up to 25%) for all types of examination.
If necessary, a candidate can receive treatment during a supervised break. Arrangements can also be made (subject to examining board approval) for candidates to take examinations outside their own centre (ie at home or in hospital).
Disabled candidates may be given additional time to complete course work, or assigned a reduced amount of course work. Again, this is subject to the approval of the examining board.
In order for a pupil to be considered for concessions at GCSE level, they need to have documented their special needs over a number of years. A child with CF should be included on the school's register of special needs as soon as possible.
It is advisable to keep a record of any absences from school, so it can be presented at the request of the examining board.
Cystic Fibrosis at college or university
As people with CF are living longer, healthier and more independent lives many more are thinking of going into 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.
Transporting your oxygen cylinders
An oxygen cylinder company has recently been carrying out telephone conferences with people with Cystic Fibrosis. They have produced this helpful advice on transporting your oxygen.
You can transport your cylinders by car provided you follow this advice:
Always display a warning sticker in the back (offside rear) window. You will find this in your Patient Pack or you can obtain one by calling the oxygen company on 0800 373580 between 8.00 am and 5.30 pm Monday to Friday.
Inform your insurance company that you will be carrying oxygen.
Ensure that the cylinders are secured safely in the boot of the vehicle, behind the front seats or on a back seat with a secure fastening.
Never transport cylinders in the front passenger seat.
If transporting several portable cylinders, always carry them in a green safety box. Your oxygen company can provide this box if needed.
Individual portable cylinders should be kept in the carry bag provided to you free of charge.
Never use oxygen in a fuel station and never allow anyone to smoke while using oxygen in the car.
Cross-infection
Cross-infection is an issue of considerable concern for the CF community. Those with CF attract different bacteria or 'bugs' that grow in their lungs. These 'bugs' are rarely harmful to those who do not have CF but may be harmful to others who have CF but who do not have the same 'bugs'.
This became a real problem in the 1990s in relation to Burkholderia cepacia complex, some strains of which can cause a very serious health problem in those with Cystic Fibrosis. It was agreed that those with B. cepacia complex should be segregated from other people with Cystic Fibrosis. It subsequently emerged that there are several strains of B. cepacia complex and some are more serious than others so people with B. cepacia complex were then further segregated according to the strain they had.
Pseudomonas aeruginosa is another 'bug' people with CF regularly acquire, mostly from the environment. This can usually be eradicated or kept at bay with early antibiotic treatment. It is expected that CF patients will pick up Pseudomonas from time to time. There are thousands of different strains of Pseudomonas. If this 'bug' gets well established and starts to become resistant to antibiotics, it can cause problems.
There is some concern that CF patients are more likely to pick up strains of Pseudomonas from each other that are more difficult to treat than strains picked up from the environment. For this reason, CF Centres and Clinics are now encouraged to offer separate clinics for CF patients according whether or not they have Pseudomonas and if so, whether the particular strain is known to be transmissible, that is, has been shown to have the ability under some circumstances to pass from patient to patient.
'Bugs' such as B. cepacia complex and Pseudomonas aeruginosa can be transmitted from person to person by close personal contact, such as sharing rooms, sharing medical equipment, sharing cutlery or crockery, and by kissing or coughing.
There is little risk of transmission of 'bugs' in an outdoor environment, but travelling with other people with CF in a car or a coach, or meeting them socially would introduce a higher level of risk.
People who have had a lung transplant need to take powerful medication for the rest of their lives to dampen down their immune system and to protect the transplanted lungs from rejection. This medication, which is called immunosuppression, has the unwanted effect of increasing the risk of infection in those taking it.
It is therefore important that after having a lung transplant people avoid, where possible, any non-essential contact with anyone who has an active infection, especially winter bugs, colds and flu. Although the annual flu jab is essential to protect against severe flu it does not protect people from seasonal bugs and colds.
After a lung transplant it might also be necessary to avoid close contact with other people with CF if their lungs are infected with particular bacteria or fungi. This is decided on an individual basis and should be discussed with the transplant centre. Some people after lung transplant may continue to carry bacteria or fungi in their sinuses or upper airway or their newly transplanted lungs which might pose a risk to other people who have had a lung transplant. If this is the case some restrictions on contact with them might be advised. Again this is individual and should be discussed with the transplant centre.
Transplants and Cystic Fibrosis
The success rate of lung transplantation for CF patients is encouraging but like any other major surgery, transplants carry considerable risks and a transplant is appropriate only for a patient who is severely ill and has tried all other forms of conventional treatment. To these patients, lung transplantation offers a better quality of life.
There is a shortage of donor organs available for those awaiting transplants. If more people carry donor cards, then more lives can be saved in this way.
Transplantation doesn't remove all concern - the risk of rejection or infection still remains.
Anyone considering transplantation should consult doctors or counsellors at a local CF clinic. For more information about transplantation, you can download the CF Trust's factsheet from our publications library. You can read about a research project in transplantation and more about what we are doing to increase donations.
Give the gift of life. Join the NHS Organ Donor Register.
Organ Donor Line 0300 123 23 23
Right now more than 8,000 people in the UK need an organ transplant that could save or improve their life, but each year around 400 people die while waiting for a transplant. If you want to help someone live after your death, sign up to the register now.
Find out more from NHS Blood and Transplant, NHS Choices and Live Life Then Give Life.
A moving new book of letters written from transplant patients to their donors and donor relatives has been launched to show the positive side of organ donation and encourage more people to sign up to the organ register. Thank you for life is published by the Royal College of Physicians (RCP) for NHS Blood and Transplant (NHSBT) with support from the Department of Health and highlights the long-standing gratitude felt by those who receive donated organs.
http://www.cftrust.org.uk/
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