Nostro figlio ha una malattia metabolica rara

Genetic metabolic disorders are multiorgan complex diseases, with only partially effective treatment available. Two families associations (Associazione per la tutela del bambino con malattie metaboliche “ABM” and Associazione Italiana Mucopolisaccaridosi “AIMPS”) collected 8 narratives that were later analyzed by the health workers involved in this project. In this paper the personal experience of parents is reported, from the critical time of diagnosis, through the acceptance and processing of information related to the disease, to the need of explaining the disease to the child and the other children in the family. Practical matters are also approached, like the difficult contact with the Regional Health Service and the major need of care of these special children, requiring the attention of one of the parents who often abandons her/his job. This kind of experience is behind the current medical practice and allows the doctors to better understand which are the unmet needs of the parents/families in order to improve the standard care and the quality of life of the patients/families.