Cystic fibrosis requires multidisciplinary care and one medical monitoring very regular. It is a real teamwork in which the patient, his family and health professionals collaborate. In addition to occasional interveners, the multidisciplinary team is made up of a doctor, a nurse, a dietitian, a physiotherapist, a social worker, a pharmacist, a psychologist. Affected people consult at least every 3 months within the CRCM (Resource and Competence Center for Cystic Fibrosis created in 2001). There are 41 CRCMs in France. Thanks to an efficient organization of care, people with the disease can, in most cases, live an almost normal life: go to school, play sports, travel, etc.

The treatments have so far been symptomatic, making it possible to reduce symptoms and to live better with the disease. Research aimed at restoring the activity of the defective CFTR protein is very active and since 2012 have emerged therapies that improve the functioning of CFTR. For each variety of CFTR gene mutation, a specific and adapted solution must be found. This is specific therapy targeted at the mutation^8,9. To date 2 drugs are marketed. One is used to treat patients with the G551D mutation or 8 other “gating” mutations with good results and the other for patients with 2 DF508 mutations. Several clinical trials are underway with the hope of new targeted treatments.

Respiratory treatments

The objective of respiratory treatments is twofold:

– help the patient to drain mucus obstructing the bronchi – avoid and treat early lung infections.

The daily exercises of respiratory physiotherapy are the basis of treatment. They constitute a kind of “toilet” of the lungs. By draining the excess mucus contained in the bronchi, they greatly improve the quality of life of those affected and reduce the risk of infections.

At thechild, these breathing exercises are done in the form of games: laugh or sigh deeply, blow through a straw, on small pieces of paper, on ping-pong balls or candles. The physiotherapist or the parent also carries out drainage postural, which evacuate a large amount of mucus. Gradually, he will be able to do them alone in self-drainage. Antibiotics are used to treat infections. They are administered orally, intravenously or inhaled depending on the type of germ and the severity of the infection. They are chosen according to the results of the antibiogram of the bacteria found in the cyto-bacteriological examination of the sputum (ECBC) carried out regularly. Rather, intravenous antibiotic therapy is reserved for Pseudomonas aeruginosa or other gram-negative bacilli for which the choice of oral antibiotics is usually very limited. The antibiotics aerosols reduce the bronchial bacterial load and may reduce the frequency of exacerbations.

other pharmaceuticals are sometimes used:

– From mucolytiques to thin the mucus. These can be given before a respiratory physiotherapy session to help clear mucus (for example, hypertonic saline solution and dornase alfa or Pulmozyme®). They are administered in the form of an aerosol.

– From bronchodilators may improve the opening of the bronchi in some patients (for example, salbutamol or Ventoline® and Atrovent®).

In the event of respiratory insufficiency, recourse is had to theoxygen therapy (at home or in hospital). This measure makes it possible to compensate for the incorrect extraction of theoxygene by the diseased lung. To make up for the bad ventilation (retention of carbon dioxide or CO₂), non-invasive assisted ventilation using a nasal or nasal-oral mask is offered. The machine then takes over to rest the patient who makes much less effort to breathe, it is restrictive but can allow to wait for the transplant.

Lung transplantation

When bronchi and lungs are too damaged by the disease and the patient needs oxygen and non-invasive ventilation to help him breathe, lung transplant can be considered. It removes diseased lungs and replaces them with healthy lungs from a deceased donor. The transplant allows you to regain your breath and resume a more active life. It is, however, a risky operation which is reserved for the most serious cases. The transplant recipient must take immunosuppressive therapy very seriously for the rest of his or her life. Finally, you should know that a lung transplant does not make cystic fibrosis disappear: digestive problems and other symptoms are still present.

Lung transplants are mostly performed in adults. Nowadays, it is rare that a transplant is necessary before the age of 18. The survival rate 1 year after the operation is 80% of cases. 5 years after a lung transplant it is 60% The main cause of death is chronic rejection of the transplanted organ.

Nutritional treatments

Despite a good appetite, children with cystic fibrosis lose weight. This is due to the poor digestion of food, caused by damage to the pancreas. Breathing problems can also affect growth and weight gain. People with the disease therefore need a special diet, established by a nutritionist. Their food should be richer in protein and calories, to reach 120% to 130% of the usual calorie intake of children of the same age. This diet compensates for poor absorption of lipids in the small intestine and corrects nutritional deficiencies. It makes it possible to reduce growth delays as much as possible.

Often the taking of various suppléments oral is often necessary.

• benefits pancreatic enzymes help digest fat better and replace natural enzymes that are “stuck” in the pancreas. These medicines should be taken at the start or during meals.
• benefits supplements Fat soluble vitamins (A, D, E and K) and carotenoids, since they are less well absorbed are needed. From mineral supplements are recommended, such as sodium chloride (salt), sespecially in thiss fever or heavy sweating (when it is hot, for example). Indeedt, sufferers lose a lot of sodium when they sweat. From calcium supplements are also offered because of the increased risk of osteoporosis.

If the special diet and food supplements are not sufficient to gain weight, enteral feeding either by gastric tube or gastrostomy should be used.

Psychological and social support

A can help from relatives, but also discussions with other parents of affected children or meetings with a psychologist are very valuable for the patient and the members of his family.

Cystic fibrosis patient and parent associations offer all kinds of practical information on treatments and the daily life with the disease. For more information, see the Support Groups section below.

Tips for parents

Here are some tips the Mayo Clinic offers for parents of children with cystic fibrosis¹⁰

• Encourage your child to to be active. Sport is not discouraged, on the contrary. It helps improve lung function and well-being of the child, and strengthens the respiratory muscles. Talk to your doctor.
• Make sure he is on a diet special, as recommended by the doctor or nutritionist or dietitian. If the child is too hungry or has no appetite, tell the doctor.
• Be very rigorous about the daily intake of suppléments vitamins and digestive enzymes.
• Encourage your child to to drink a lot : water thins mucus and facilitates bronchial drainage.
• Do not smoke in the presence of the child since the secondhand smoke worsens respiratory problems.
• Establish the habit of frequent hand washing for all family members to prevent infections.
• Be up to date in the vaccination schedule