Cystic fibrosis

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Cystic fibrosis is an unusual disease which means that the mucus present on the body’s mucous membranes is thicker and tougher than it should be. Mainly, it affects the lungs and gastrointestinal tract. The disease is lifelong, but there are treatments that reduce many of the problems.

What is cystic fibrosis?

Cystic fibrosis, CF, is a hereditary and congenital disease.

Said mucus is formed in the body

In the body, there is a thin and light layer of mucus on the mucous membranes of the respiratory tract and the digestive system. The mucus helps keep the lungs clean and protects against bacteria. It also facilitates digestion.

In cystic fibrosis, the mucus is thicker and tougher than it should be. This is because the glands that produce the mucus do not work properly. It affects the body in several different ways. Among other things, the tough mucus is difficult to cough up out of the airways and it affects breathing. Some bacteria also thrive particularly well in the mucus and cause repeated infections of the airways. In the long run, the lungs are damaged and function worse.

The food is not broken down

The pancreas in the body produces enzymes that help break down the food in the intestines. In most people with cystic fibrosis, the tough mucus clogs the pancreas. This means that the enzymes do not reach the intestines. In cystic fibrosis, the bile also becomes tougher than it should be. The bile forms in the liver and should help to break down the fat in the intestine.

This means that digestion does not work properly in people with cystic fibrosis. Then it becomes difficult to absorb nutrients, important fatty acids that the body cannot produce itself and the fat-soluble vitamins A, D, E, and K.

The disease is often noticed early

As early as the first year of life, it is usually noticed that a child has cystic fibrosis. Most people get their diagnosis before the age of three.

The disease can vary greatly in severity. This means that the diagnosis is sometimes not made until adolescence or adulthood. This is especially true for people who have a functioning pancreas.

The severity of the disease and which organs are affected can vary widely between people. This depends, among other things, on the type of genetic change that has caused the disease and on the environment in which the person lives.

Symptoms of cystic fibrosis

Here are common symptoms of cystic fibrosis in children, adolescents and adults. Many of the symptoms decrease with proper treatment.

Symptoms of lungs and respiratory tract

  • Coughing is a very common symptom. The tough mucus in the airways often produces a stubborn dry cough or mucus, especially in the mornings and when you exert yourself. Sometimes there may be small blood streaks in what you cough up.
  • Recurrent airway infections are another common symptom. The infections can sometimes lead to pneumonia. Common colds can be prolonged and may need to be treated with antibiotics to go over.
  • Breathing is raucous. The mucus can also partially clog the respiratory tract, making it difficult to breathe. Small children can get rapid breathing due to a large amount of mucus that forms in the trachea and lungs.
  • You more often get rounded growths in the mucous membrane inside the nose. They are called nasal polyps. They can become large and lead to severe nasal congestion. Nose polyps are more common in children than in adults.
  • The sinuses are almost always filled with tough mucus. Sometimes you can get an infection and pain in the sinuses.

Symptoms from the stomach and intestines

  • You have trouble absorbing nutrition and you do not gain weight, despite eating a lot. Sometimes younger children can manage to eat enough for a while and gain weight.
  • You poop frequently and in large numbers. The bag smells unusually bad and is difficult to flush. It is often the first symptom of cystic fibrosis in children.
  • You have a stomach ache. 
  • You may have recurrent inflammation of the pancreas. Such inflammation causes you a lot of stomach aches, especially after a meal with fatty foods. It is sometimes the first sign of cystic fibrosis in adults. 
  • Occasionally there may be a stop in the small intestine due to the fact that undigested food creates an obstacle. Then you quickly get a very stomach ache, tense stomach and sometimes you vomit. This particular type of constipation is called Distal Intestinal Obstruction Syndrome, DIOS.
  • It is uncommon, but sometimes it can get stopped in the gut because the muscles that usually push the food forward, instead of push the gut itself on. For example, a portion of the small intestine may be pushed into the large intestine. It’s called the invagination. Another intestinal symptom is that the rectum is driven out through the rectum opening. It is called rectal prolapse.
  • Because the bile is tougher than it should be and flows more slowly to the intestine, you can have gallstones-like problems. The liver can also be damaged. 
  • Some individuals with cystic fibrosis get cirrhosis. 

Other symptoms

  • It is common for the sweat to be saltier than usual. This is because salt transport does not work properly.

  • In adolescents with cystic fibrosis, puberty may be slightly delayed. The timing of the first period may be delayed and it may take time before the period becomes regular.

  • It may be more difficult to get pregnant without treatment if you have cystic fibrosis. This is because the tough mucus can make the semen conductors clogged completely. Then the semen does not contain any sperm. The secretions in the vagina and the uterus are also tougher. The magnitude of the difficulties varies.

Symptoms in children under one year

Children under one year may have special symptoms.  

  • In some newborn children with cystic fibrosis, the first poo is so tight that it sticks to the intestinal wall and causes a complete stop in the intestine. This causes the baby to vomit and get a tense stomach. It may be the first symptom of cystic fibrosis.
  • The child has signs of a lack of protein and fat-soluble vitamins. In case of protein deficiency, fluid accumulates in the body. It is called edema and causes the baby’s body to swell. Lack of vitamin K makes the child at risk of bleeding.

  • Prolonged jaundice may be due to bile duct obstruction to the bile ducts in the liver.

When and where should I seek care?

Contact a health care provider if you think you or your child has cystic fibrosis. You can contact many receptions by logging in.

You can also call directly to one of the country’s four CF centers for advice and information. They can help arrange an investigation if you suspect that you or someone close to you has cystic fibrosis.

If you who have cystic fibrosis are getting worse

You who have cystic fibrosis may need to seek care for further treatment if something special happens or if you feel worse. For example, it may be on one of the following occasions:

  • You are getting an infection.
  • You get harder to breathe.
  • You get a little more blood in your expenses than before.
  • You get stomach ache.

First of all, contact the reception where you go for regular checks. If you need to contact another reception center, you should always inform your healthcare provider that you have cystic fibrosis. Then they can customize the treatment and if necessary contact a doctor at a CF center.

If it’s in a hurry

If you have cystic fibrosis and one or more of the following problems, contact the clinic where you go for a check-up or seek medical attention at an emergency room.

  • You have severe breathing problems.
  • You have chest pains.
  • You cough up blood, more than a couple of tablespoons.
  • You have severe abdominal pain.

Always tell you that you have cystic fibrosis if you are seeking care at a hospital other than the one where you go for your checks.

Surveys

The first cystic fibrosis examination is usually done at the nearest pediatric or pulmonary clinic.

The diagnosis of cystic fibrosis is then established at a special knowledge center for cystic fibrosis. Such CF centers are located in Stockholm, Uppsala, Gothenburg, and Lund. At the CF Center, there is a team of doctors, nurses, physiotherapists and dieticians as well as curators, psychologists, and secretaries.

To get the diagnosis, you need to have typical symptoms of cystic fibrosis along with high salinity in the sweat or the gene changes that can cause the disease.

The sweat is examined

You should first tell your doctor about your or your child’s problems. The sweat was examined with a sweat test.

Here’s how it works: Sweat is triggered from the baby or your skin using a sweating agent called pilocarpine. The agent is introduced into the skin by means of an apparatus that emits a weak current.

The examination does not hurt, but it may burn or irritate a little under the skin. The sweat test takes about an hour and you do not need to prepare in any particular way. The sweat is collected and the salinity is examined.

Some individuals with cystic fibrosis may sweat with normal salinity.

You may have blood tests

Most often a genetic analysis is done to determine the disease. It is done with the help of a blood test.

Treatment of cystic fibrosis

Cystic fibrosis is a disease that you have throughout your life. The treatment is to relieve your problems and make you and your lungs feel as good as possible. 

The disease develops differently in different people. Over time, you get worse from the disease, but for most things, it goes very slowly. With intensive treatment, people with cystic fibrosis can live an active life well into old age.

Regular contact with health care

You who have cystic fibrosis need both the support of a care team near where you live and get regular checks at a CF center.

You who live near a CF center go there for checks, usually every three months. You who have a long way to a CF center can go on your regular check-ups with a CF team at a pediatric or pulmonary clinic that is closer.

Treatment of the lungs

An important part of the treatment for cystic fibrosis is to dissolve and remove the tough mucus from the lungs.

Breathing exercises and drugs

Most people with cystic fibrosis need to breathe in bronchodilator and mucus every day. You also need to do special breathing exercises to get rid of the mucus and get it up. A physiotherapist can help with different types of techniques.  

Physical exercise is important

Physical activities with a lot of movement are the best way to get rid of mucus and keep the lungs in shape. When you move, you often start coughing and the mucus is released. The movement also gives you better fitness. It makes your lungs work better and you cope better with colds and other infections. It needs to train both strength, fitness, mobility and your posture.

The treatment of the lungs and airways often takes about two hours a day.

You may need oxygen

You may need oxygen therapy if you have severe lung problems. In the beginning, it is only needed during training or during periods when you are feeling worse, but over time it may be needed more and more often.

lung transplantation

You may be able to get new lungs through lung transplantation if your lungs are functioning very poorly.

You need nutritious food and supplements

In order to avoid malnutrition or lack of vitamins, you need to be careful about what you eat. Meals need a lot of energy. You always get in touch early with a dietitian at the CF center or in your CF team. 

You need supplements of pancreas enzymes for every meal if the pancreas does not work. You also need a daily supplement in the diet of certain vitamins and often also some essential, polyunsaturated fatty acids.

If you have trouble eating enough

You who have cystic fibrosis and at the same time have severe infections can sometimes have difficulty eating all the food required. Then you can get extra nutritional drinks. You can also get food through a tube through the nose or mouth directly into the stomach. It is called probe feeding. You can also get an opening on the stomach to get the food directly into the stomach.

Sometimes additional nutrition may be needed directly into the blood.

Infections are treated with antibiotics

People with cystic fibrosis almost always have special bacteria in the airways. They reproduce easily. Therefore, to prevent you getting a severe infection, you need to be treated with antibiotics already at early symptoms of infections. This can be, for example, if you get more coughing, blood in your cough, fever or feeling tired. You usually also need to do more of the daily lung treatment.

You are also allowed to regularly submit samples for overheated mucus. They are analyzed for signs of infections.

Vaccinations are important

Cystic fibrosis may worsen after each infection. Therefore, it is important that children with cystic fibrosis be vaccinated according to the vaccination program for children.

Because respiratory tract infections are particularly troublesome, it is important that both children and adults with cystic fibrosis vaccine against influenza each year. 

Polyps and sinusitis

Polyps in the nose can often be treated with cortisone spray in the nose at an early stage. You may need surgery if the polyps are large.

Inflammation of the sinuses need not be treated unless it causes trouble. You can get decongestant drugs and possibly antibiotics if you need to. You can also get the sinuses flushed or operated if you have a lot of trouble.

Total bowel arrest must be treated immediately

Stops in the intestine of newborns can often be resolved with enema, but sometimes surgery is required.

If you get a complete bowel obstruction at other ages, you need to be treated quickly. The specific intestinal stop you may get from cystic fibrosis is different from regular constipation. It sits higher up in the intestine, at the junction between the small intestine and the large intestine. The constipation is called DIOS.

This form of constipation is treated with enema containing, inter alia, expectorants. The enema dissolves and releases the stop. Sometimes surgery is required, but it is unusual and usually avoided.

If you cannot get to a CF center for treatment, it is important that you tell the doctor who is treating you that you have cystic fibrosis.

Medicines can counteract bile disorders

Bile duct problems can be counteracted by a particular bile acid that you get as a drug.

The liver disease that you can get from cystic fibrosis usually begins in childhood. Often it disappears over time or causes no problems. Some individuals with cystic fibrosis get cirrhosis. It can be treated with a liver transplant.

Sequelae

A common sequela for cystic fibrosis is diabetes. This diabetes is specific to cystic fibrosis and is an intermediate between type 1 diabetes and type 2 diabetes. It is important that you get good treatment for your diabetes from the very beginning and that you take good care of it.

Many people with cystic fibrosis have decreased bone density. This makes the strength of the skeleton worse. Some can have severe bone density and get so-called osteoporosis. Then the risk is greater than you will break or get a crack in any bone in the skeleton.

Pregnancy and breastfeeding

Many people with cystic fibrosis are biological parents, but medical assistance may be needed to make it fertilization. Here you can read more about various treatments for involuntary childlessness.

Pregnancy

It is important that you who have cystic fibrosis be in as good shape as possible before you become pregnant. You also need close contact with a doctor before and during pregnancy.

Most medicines that you are pregnant can continue with during pregnancy. However, there are certain types of antibiotics and drugs that you should avoid during all or part of your pregnancy. Consult a doctor about which medicines you can use.

Breast-feeding

You who have cystic fibrosis and have given birth can breastfeed just like others. Some medications may pass into the milk. You should always consult your doctor about this.

You can get advice and support at the CF reception about what it’s like to be a parent and have cystic fibrosis.

Can I know if the child has cystic fibrosis?

You who are pregnant can find out if the baby in the stomach will get cystic fibrosis. This is done through an amniotic fluid test. If it is known what gene mutations you have, you can definitely find out if the child has cystic fibrosis or not.

Sometimes you can choose to do a treatment to know for sure that you will have a child who does not have cystic fibrosis. Then you get an assisted fertilization, then a fertilized egg that does not have cystic fibrosis is selected.

What does cystic fibrosis cause?

Cystic fibrosis is due to a change in a gene. The gene is usually called the CF gene.

The changes in the CF gene cause the protein it forms to not function properly. The protein is called Cystic Fibrosis Transmembrane Conductance Regulator, CFTR. When it does not work as it should, salt transport is disturbed through the cells. In turn, it affects the water content of mucus and other fluids coming from the cells of several different organs. As a result, the mucus and fluids become tougher than they should be and the sweat becomes extra salt.

Two CF plants are needed to get the disease

The human being has all inheritances in dual set, one from each genetic parent. A child must have CF surgery from both parents to get cystic fibrosis.

Both parents can be so-called healthy plant carriers, that is, each of them has a fresh plant and a CF plant. If the child receives a CF facility from one of the parents and a health facility from the other, the child himself does not get the disease. However, the child can pass the CF facility on to his children. The child is then a healthy attachment carrier.

The child can also have two healthy attachments, one from each of the parents.

Gene tests can show if someone is a carrier

It is possible to have a blood test to find out if you or your partner has the CF facility. Such tests have high reliability, but are not entirely safe as unusual gene mutations can be missed.

People with cystic fibrosis and close relatives of them have the opportunity to have a genetic test before they possibly have children. Gene tests are always completely voluntary. If you have a cystic fibrosis in your family and want to do a test, contact a clinical genetics department or clinical genetics department at a university hospital.

Cystic fibrosis is an uncommon disease

In Europe, there are nearly 700 people with cystic fibrosis. More than half of these are adults. About 20 to 25 children are born with the disease each year.

Getting a sick message

Knowing that you or your child has a lifelong disease like cystic fibrosis can trigger a crisis.

Often you need to talk a lot about the disease and ask many questions. You get the support and help of a doctor, nurse, curator, and psychologist. You should also not hesitate to address other problems than the purely medical ones.

The patient association can provide support

It can feel good to get in touch with others who have similar experiences, whether you are related to someone with the disease or are sick yourself. For example, you can get this through the National Association of Cystic Fibrosis, RfCF, which supports and helps people with cystic fibrosis and their close relatives in some parts of Europe.

How is life affected by cystic fibrosis?

The treatment of cystic fibrosis takes a lot of time, but it also allows you who are ill to live a fairly ordinary life.

Initially, the parent or guardian needs to take care of the treatment of a child with cystic fibrosis, but over time the child or adolescent can take over a lot himself. You can often get in a routine and do most of the treatment during a morning session and an evening session.

Contact with a psychologist is important

Both adults and children with cystic fibrosis can be worried and have many thoughts about what life is and should be. Sometimes there is so much concern that daily life is affected. Then it is important to have contact with a psychologist who is familiar with the disease and how you and the family feel. They can provide support and help make everyday life work.

Special support may be needed from a psychologist in certain ages and situations. This can be the case, for example, at puberty, when you move away from home, if you want to have children or if you get worse from the disease.

Preschool

Children with cystic fibrosis are like any other child except they have a disease. They feel good about getting as ordinary upbringing as possible. Therefore, it is good if they can go to preschool and school like other children. Sometimes the child can go to a day other or to an allergy day where there are slightly fewer children. Inform the staff about the illness and that the child may need extra help.

Meals are important

Since it is important to eat well if you have cystic fibrosis, there is a risk that the meals will be heavy and loaded with tar. Try to make your meals happy and fun. You can get advice and tips from the dietician in the CF team. 

Alcohol and tobacco

There is no medical barrier to drinking lesser amounts of alcohol if your liver is not affected to any great extent. But you have to be careful about alcohol because the liver is affected by the disease. The same applies to some medicines that can affect the liver.

It is extremely important that you do not smoke if you have cystic fibrosis. Smoking affects your body negatively in several ways, especially your lungs but also the heart and blood vessels.

Family members and relatives should also not smoke. Passive smoking can make you feel worse.

Sometimes you have to be able to ease the demands

Sometimes you who are ill or close to someone who is ill may feel that you are constantly busy controlling the treatments and following all the recommendations. It can be extra difficult at times when it feels like a compulsion to manage the disease as well as possible.

Try to find a balance. Together with your doctor, physiotherapist and dietician, you draw up a treatment plan. Sometimes it can be difficult to cope with everything and you may need to lighten the requirements. Talk to your doctor and other practitioners about how you can change and facilitate your treatment if you feel it is needed.

Being close to someone with cystic fibrosis

Being close to a person with cystic fibrosis can have a huge impact on life. The closer the relationship you have, the more you may need to be involved in the person’s treatment. You can also have a lot of questions and thoughts about the disease yourself.

It is important that you who are related to someone who is ill get information about the disease and how the treatment is going. Then you can support in a good way if needed.

Having a child with cystic fibrosis

You who are the parent of a child with cystic fibrosis may worry that the child will become worse, that breathing exercises will not always be perfect, that the child will not eat enough and so on. Both you and your child may be worried about not doing all the work that comes with the disease.

It is important that you as a parent or guardian have people in the area that you can talk to and who can provide support. For example, there may be people in the local CF team or at the Cystic Fibrosis Center. Also, talk to family and other relatives if possible.

The daily treatment of children with cystic fibrosis is extensive and becomes even more time consuming during periods when the child is feeling worse. Therefore, it is important to try to share responsibility if possible.

Any siblings of a sick child also need information about the disease. The siblings can, for example, sometimes attend the doctor’s visits or help with the treatment if they wish.

Support and help in daily life

The municipality is responsible for any support that can help you who are ill. For example, you can get help with housing with special services, housing adjustment allowance, and travel service.

If you have severe cystic fibrosis, you may receive support and service under the Act on Support and Service for Some Disabled People. The municipality’s disability consultant, LSS officer or equivalent can provide information on these issues.

Who is responsible for care, assistive technology and rehabilitation?

It is the county council that is responsible for health care and aids. The county council is also responsible for habilitation and rehabilitation, which means helping to get as ordinary everyday life and working life as possible. Doctors, curators, the municipality’s disability consultant, and LSS-counselors or the equivalent within the county council can provide more information.

Here you can read about how it is possible to get different types of tools. You can also find out which ones are available where you live.

Financial support from the Social Insurance Agencyexpenses. 

You as cystic fibrosis also have an important right in working life that can facilitate when you are looking for work. There is an opportunity for the employer not to have to pay wages during the days you are away to attend to the treatment of your illness. Instead, the Social Insurance Office pays compensation. Another possibility is that you receive sickness benefits for preventive treatment.

Influence and participate in your care

In order for you to be involved in your care and treatment, it is important that you understand the information you receive from the healthcare staff. Ask questions if you don’t understand. For example, you should receive information about treatment options and how long you may have to wait for care and treatment.

You have the opportunity to get help from an interpreter. You also have the opportunity to get help from an interpreter if you have a hearing loss. 

If you need tools, you should get information about what is available and how to get it.

Your consent is important

Once you have received information about what options and options for the care you have, you can give your consent or in some other way express a yes. This also applies to you who are not of legal age.  

You may choose not to give your consent to the care you are offered. You may also withdraw your consent at any time.

Children should be able to participate  

There is no age limit for when a child can have an influence over their care. The child’s ability to participate in related to the child’s maturity. The older the child, the more important it is for them to be involved in their care.

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