Figure 112.1 Features of cystic fibrosis Figure 112.2 Professionals involved
112
Cystic fibrosis management
Cystic fibrosis (CF) is one of the most common life-limiting conditions that impacts on the quality of life of the child and their family. The condition can affect multiple organs, not only the lungs. CF affects the transfer of salt between our cells, and where salt goes water follows (osmosis). This alters the environment and effective motility within the organ. Earlier diagnosis improves prognosis.
Detection of CF
Screening of newborn babies for CF was commenced in 2007 and most cases are diagnosed this way. A blood test is carried out at birth with other screening tests.
Other ways in which CF can be diagnosed:
- Meconium ileus, which is bowel obstruction at birth
- Recurrent chest infections
- Failure to thrive and malabsorption.
CF diagnosis can be confirmed if the child presents with the above via a sweat test or a stool sample. Further tests are required to determine the mutation and severity of the condition.
Common problems and management
Chest infections
The lining of the lungs are covered in thick sticky mucous in CF patients, making it more difficult to clear the lungs of the mucous which contains bacteria and fungus. This leads to recurrent chest infections.
Pseudomonas aeruginosa is the most common fungal infection and causes scarring on the lung. It is hard to eradicate and so, once identified using a cough swab, lifelong treatment begins to suppress its growth and prevent scarring. Children with CF have daily prophylactic oral antibiotics to help prevent infection. Oral antibiotics are changed to a treatment regimen when the child becomes symptomatic. If the child remains unwell they will require hospital admission for intravenous antibiotics. It is a constant battle to prevent infection and maintain lung function. Failure to do so results in scarring of the lungs and the eventual need for a lung transplant.
A daily intensive physiotherapy regime also helps to clear the lungs of mucous in conjunction with nebulizer therapy.
Pancreatic insufficiency
Some children with CF have a deficiency in breaking down fatty foods which cause bowel obstructions. In the same way as their lung lining is thick and sticky, the gastric lining is also unable to pass food and break down any waste products. They produce foulsmelling sticky stools and require enzyme capsules (Creon) to aid digestion and absorption of vitamins and minerals. They require a high calorie diet to meet the metabolic demands, as children with CF are constantly fighting infections. If they are unable to maintain a good weight, they may have a gastrostomy device fitted to enable artificial feeding directly into the stomach. They may also need additional salt in their diet to replace salts lost through sweating.
CF-related diabetes
CF-related diabetes can develop as a result of blockages in the pancreas in the same way as the lungs become sticky and do not work efficiently. Some CF children require glucose monitoring and high blood sugars can be controlled by diet or insulin. Most patients with CF who go on to develop CF-related diabetes find it hard having to fit blood glucose monitoring and insulin injections into an already hectic treatment regime. To have both CF and CF-related diabetes can be hard to come to terms with.
Liver
Liver damage can be caused in the same way as the lungs; the bile ducts become sticky and the liver can develop cirrhosis. Patients need annual liver scans to detect any liver damage early.
Infertility
Most men with CF will go on to have problems with infertility and may require interventions to conceive.
Women with CF can have problems with fertility but most can go on to have children. They need to be monitored closely throughout their pregnancy.
Carriers of the CF gene are offered genetic counselling prior to starting a family when the risks are explained.
Impact on family
Diagnosis of CF is a life-changing event that impacts on all aspects of life. The treatment is not a cure but compliance with all forms of treatment can extend life expectancy, currently 38 years.
Everything is a constant battle and young adults find it hard to comply with all the treatment, attending school and taking control of their CF. Families struggle financially and parents become carers.
Segregation is required in CF clinics and on hospital wards to prevent cross-contamination. This helps to prevent infections but results in CF being a very isolating condition where peer support is hard to obtain. Parents can mix but patients are advised not to.
Transitional preparation begins around the age of 10 years and is based on preparing the young person for independent living. Most hospital wards only cater for under-16-year-olds and so CF patients are prepared for taking ownership of the condition, learning their medication routine and knowing when to seek medical interventions. This can be a hard time for everybody as parents have to take a back seat and allow their child to take more control which the child may not be ready for.
The burden and compliance with treatment is not only on the child or young person but the whole family. Every day is impacted by CF, whether the child is unwell or not. Having a child with CF causes constant uncertainty. The biggest uncertainty for the child or young person and their family is living with a reduced life expectancy.
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