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- Title
Malattie rare in pediatria e nucleo familiare: uno studio di caso.
- Authors
Cotichelli, Giordano
- Abstract
Rare diseases have an incidence of about 5/1000 people and in 80% of cases they have a genetic origin. The onset of rare diseases often occur during infanthood with complex clinical conditions and the need of a multidimensional, multispecialist healthcare approach. This paper wants to offer hints of reflection about rare diseases' care by means of a study of a case regarding the Pelizaeus-Merzbacher disease (PMD) Goal. To highlight the problems that families of children with a rare disease face when dealing with public welfare and healthcare services. Materials and methods. Qualitative research study of a case. Social and relational dimensions of a family of a child with PMD were studied. The study was divided in a preliminary phase, a bibliographic research, a narrative medicine interview and analysis. Results. The complex case analysed showed the difficulties of family in coping with the situation and the role of advocacy that nurses often took on when taking care of the child. While public welfare and healthcare services were perceived as far and absent, spontaneous social nets supported the family and the child in their efforts to deal with difficulties.
- Subjects
GENETIC disorders; PSYCHOLOGICAL adaptation; CASE studies; QUALITATIVE research; FAMILY relations; HEREDITARY central nervous system demyelinating diseases; PSYCHOLOGY
- Publication
Children's Nurses: Italian Journal of Pediatric Nursing Science / Infermieri dei Bambini: Giornale Italiano di Scienze Infermieristiche Pediatriche, 2012, Vol 4, Issue 4, p133
- ISSN
2036-2218
- Publication type
Article