摘要：AbstractThe so called rare diseases (further RD) are a large heterogenous group of diseases requiring a long-term care. They are very often severe diseases with a very unfavourable even infaust prognosis. In recent years there has been an improvement in the diagnostic and in some cases also therapeutic possibilities. The lifespan of patients is thus extended.The paper describes selected results of an extensive study monitoring the quality of life of caregivers who care for a child with a rare disease. The study presents evaluation of questionnaires from parents of children with the following diseases: cystic fibrosis (CF), spinal muscular atrophy (SMA), mucopolysaccharidosis (MPS), group of metabolic disorders (MP) and achondroplasis (ACH). It was confirmed that most monitored areas deteriorated during the care. Statistically significant differences in the impacts of these factors on personal and social life of respondents from the groups: caregivers who care for a family member with a rare disease and persons who care for a child without disability or disease - the control group - were confirmed. Considering immense financial expenses that are given on the treatment of rare diseases it is necessary to focus on better support of caregivers as well.
关键词：quality of life;children;patients;caregiver;family;rare diseases
