Expert: Living With Cystic Fibrosis
Cystic Fibrosis (CF) is a genetically inherited disease that primarily affects the lungs and the digestive system. Approximately 1 in 19 Irish people are said to carry the altered gene that causes the disease, and Ireland has the highest incidence of Cystic Fibrosis in the world.
What is Cystic Fibrosis?
A person with Cystic Fibrosis has two copies of an altered CF gene (CFTR), one inherited from each parent. CFTR normally makes a protein that controls the movement of salt and water, in and out of our cells: For people with Cystic Fibrosis, this protein is faulty, as the altered gene doesn’t function properly. Roughly 1 in 19 Irish people are said to ‘carry’ one copy of the altered gene, though both must be altered in order to have Cystic Fibrosis. Most carriers of the altered gene have no idea because they’re completely healthy.
Normally, the liquids and mucus that line many of our organs lubricate them and help to protect against infection. In Cystic Fibrosis, however, the fluid lining the airways is reduced, resulting in an excess of sticky secretions that are prone to infection, and difficult to cough up. In the pancreas, the secretions block the flow of digestive juices into the gut; leading to impaired digestion, and poor absorption of food.
How Is Cystic Fibrosis Diagnosed?
Since April 2011, all babies born in Ireland are tested for CF at birth with a simple heel-prick test (part of the newborn blood-spot screening programme,) so parents usually get a diagnosis very early. In fact, many parents find it difficult to believe that the diagnosis is correct, especially if their child seems well. That’s why it's important to be referred to a CF specialist at an early stage; to have the diagnosis confirmed, and explained fully. The more understanding you have of the disease the better!
What Happens Next?
After diagnosis, you’ll be given a huge amount of information and advice from various sources; some of which may be conflicting. Cystic Fibrosis is a complicated condition, and each child is affected slightly differently; so it’ll be a while before you fully understand CF, and only experience will tell you exactly how it is affecting your child. Never be afraid to ask questions; and if something is worrying you, ask for help. Never wait for things to get worse.
The life expectancy and lifestyle for children with CF has improved beyond recognition in recent years. With the latest advances in research, there's every chance that new therapies will be developed to further improve the outlook for those with CF. So it's important that your child follows the normal developmental milestones of their peers, to prepare them for independence in later life.
It's also important not to forget the impact there may be on any brothers and sisters of the child with Cystic Fibrosis. They’re just as likely to be anxious, and may even feel either guilty because they are well; or left out because of all the attention the child with CF is receiving.
What Effect Will CF Have On My Child?
Cystic Fibrosis and Digestion:
The effect of Cystic Fibrosis on the pancreas and digestion, varies from person to person; but without treatment, babies and children with CF will fail to gain weight and have very loose stools.
It is now possible to replace most of the missing enzymes with Pancreatin (the general name for all pancreatic enzyme medicines.) They come in the form of powder, granules or capsules, but for most children, capsules are preferable: The outer capsule dissolves in the stomach, releasing all the microspheres; then they pass into the upper part of the small intestine, mixing with the food, and allowing digestion to take place. Most babies will take the microspheres removed from the capsules; sprinkled onto fruit puree, which makes them easier for baby to swallow. This can be done from birth.
Taking enzymes quickly becomes routine, and children soon learn how to take them themselves and should be encouraged to do so from a young age. Given the correct dose, this will do no harm at all.
Cystic Fibrosis and the Lungs
We all have liquid and mucus in our lungs, which helps them function; but with CF the mucus produced is abnormally thick, due to there being too little liquid. This can block some of the smaller airways, leading to infection; which if left untreated can lead to lung damage.
The aim is to keep the lungs as clear as possible from mucus and infection. There are two main ways in which this is done:
Prevention and treatment of chest infections, usually with antibiotics.
Clearing the sticky mucus from the lungs with physiotherapy, breathing exercises and regular physical exercise
All children suffer numerous colds in their first few years; but in children with CF, symptoms often last longer because of the increased lung secretions. Children with CF may need antibiotics to prevent a bacterial infection developing; and extra physiotherapy is needed if there’s a lot of extra mucus.
It is impossible to prevent your child picking up infections from other children and adults, so there is no point in isolating them for that reason. It is sensible though, to avoid close contact with people who have streaming colds; and it’s very important to avoid smokers, as ‘passive smoking’ has an increased effect on CF sufferers.
What Other Side Effects Might You Expect?
People with CF can be prone to Sinusitis and Hay Fever, which may need to be treated with nasal sprays or antibiotics. Some older children and adults develop nasal polyps, which may need to be removed by a small operation.
Some people with CF get liver problems; and older children and adults will have their liver function checked from time to time by a blood test. Treatment is now available to prevent progression of any liver problems.
Diabetes Mellitus develops in about 30% of adults with Cystic Fibrosis, and results in an abnormally high level of sugar in the blood. Treatment is usually by insulin.
Some older children develop a form of Arthritis, usually in one or two large joints, such as the knee. In most cases this improves with time and treatment. Adults can also be prone to Osteoporosis (thin brittle bones). However, with medical advances, we do not expect children to develop osteoporosis to the same degree that adults with CF now experience it.
In some children with Cystic Fibrosis, particularly those who are underweight; puberty is often later than usual, but children do develop normally in time.
Fertility is usually normal or only slightly reduced in women, but many men with CF have fertility issues: They do produce viable sperm, but it doesn’t make it into the semen; so they may need clinical assistance to father children.
How Does Physiotherapy Help?
Physiotherapy, breathing exercises and regular physical exercise help to clear mucus from the lungs of someone with Cystic Fibrosis. You’ll be taught to do physiotherapy soon after your child is diagnosed as having CF; and advised on when and how to do it. Traditionally, physiotherapy is carried out routinely twice a day; or more often when children are unwell. However, nowadays many babies and children with CF may have clear chests; so it's not always necessary to give treatment as frequently, particularly if they’re very active. Breathing exercises can be introduced in the form of a game from the age of two or three and, as children get older, they can learn to do their own physiotherapy. Most teenagers become completely independent and only require help from time to time.
When Should My Child See A Doctor?
The answer is a simple one – when you are worried about him or her.
Here are some useful pointers:
- Cold symptoms
- Weight loss
- Increased or frequent cough
- Tummy aches
- Increased sputum
- Frequent or loose stools
- Change in colour of sputum
- Decreased ability, or unwillingness to exercise
- Decreased or poor appetite
- Increased fatigue
Children with CF should attend a Hospital with a specialist CF Centre or Clinic. Alternatively, you can contact your GP, who will send you to the hospital if necessary; but most GPs are not experts in CF, so ask a specialist consultant if you’re worried.
Are Immunisations Important?
Children with CF are particularly at risk from common childhood diseases, especially those infections which may affect the lungs. They must be immunised at an early stage, before they come into regular contact with other children at nursery or school. Flu can cause an especially nasty illness in children with CF, and it’s recommended that every child over six months is immunised against flu annually.
Children with CF respond just as other children to immunisation, and are no more likely to have reactions to the injections. The normal immunisation schedule is appropriate for children who have CF and injections should be postponed only in very exceptional circumstances: There are very, very few medical reasons to avoid immunisation.
Will My Child Be Able to Run, Play, and Go to School With Other Children?
Regular exercise is an important part of care for children with Cystic Fibrosis. It helps prevent deterioration of the lungs, improves physical strength and is very good for keeping bones healthy.
Children with CF attend nurseries and school in just the same way as any other children, and can join in almost all the normal activities. However, it’s important that the school knows about CF, and how it affects your child; so keep them informed of new developments, or changes in treatment.
Only 30 years ago, the outlook for a baby born with CF was very poor. Today, young adults with CF are living into their 30s, 40s and beyond. New treatments are having a significant impact on the lives of people living with CF, and the future is, without doubt, an optimistic one.
In the interim, CF Ireland aims to keep every person with Cystic Fibrosis as fit and well as possible; controlling their symptoms, to maximise both the quality and the length of their lives.
And Finally …
To raise some much-needed funds in order to support the amazing work CF Ireland does; there is a Riverdanceathon taking place on June 29th on South Anne Street from 10am – 10pm. Whether you’re free to lend a hand, or fancy taking the kids along to watch, it’s sure to be a great day. More details are available on cfireland.ie. See you there!
There's lots more information about living with Cystic Fibrosis on CF Ireland, including Entitlements Available to CF sufferers. CF Ireland is a voluntary organisation that was set up by parents in 1963 to improve facilities for people with Cystic Fibrosis in Ireland. CF Ireland cooperates with medical professionals to give maximum assistance to CF sufferers and their families.
This article is part of a new series looking at different conditions which affect children and families; getting expert advice on how to spot the signs, and manage symptoms. There'll be plenty more in the coming weeks in our child health section; but for now check out Expert: Diabetes, And How To Recognise The Signs.