EXPERIENCES AND NEEDS FROM THE PERSPECTIVES OF FAMILIES WITH A CHILD WITH RARE DISEASE, CACH SYNDROME

Abstract

The study presented below was designed to better understand the experiences and perceived needs of families, especially of parents, who care for a child suffering from a Childhood Ataxia with CNS Hypomyelination (CACH) syndrome. A qualitative descriptive approach was used, carrying out five semi-structured interviews whose data were analyzed through the NVivo 11 program. The parents expressed how important is for them the existence of associations that help them, both in the area of training and social support, lacks they sometimes cover with Internet, the need for greater involvement of health and educational professionals, and resources that facilitate the daily care they must provide for their children. Although the limitations of the type of research should be considered, the study reflects the impact of the disease on the different dimensions of family, and further research is needed, not only medical but also social, to guide public systems in establishing policies to address more comprehensively the needs arising from this disease and provide appropriate support to mitigate the affectation in family dynamics.