Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy

Abstract

BackgroundLiving with a disabled child has profound effects on the entire family. With a prevalence of developmental disabilities around 2,5 %, there is a considerable need to promote improvements in the health care system. Little is known about changes and adaptations in the lives of affected families and this paucity of information hinders the improvement of services. This study sought to explore the needs and changes in the everyday life of families with children suffering from rare diseases of varying severity, with and without mental disability. The aim was to measure the socio-demographic characteristics, health care problems and living conditions of a large cohort of families with an affected member.MethodsA sample of 154 families was recruited between September 2011 and April 2013 to respond to a 136 item questionnaire that explored different areas of concern (diagnosis and follow-up of clinical specialists, relationship with pediatrician, rehabilitation, school, work, institutional and/or private support, child care needs and family relationships).ResultsAll parents answered the questionnaire. They were satisfied with the services provided in particular for diagnosis and follow-up, relationships with the family pediatrician, rehabilitation services and school, regardless of the severity of condition, presence of intellectual disability (ID) or absence of diagnosis. Negative scores were reported for institutional and/or private support and family relationships in severe conditions.ConclusionsThe Health Care System should maintain a family-centered care and a multi-agency working, improving quality of life of families with disabled child to allow adaptation. At present these services are uncoordinated and financial support is poor, resulting in a heavy burden for these families.

Educational inclusion of students with rare diseases: Schooling students with spina bifida

“…At last, like other studies conducted with students with special educational needs (Gül & Vuran, ; McConkie et al., ; Silibello et al., ), the results of this research highlight the need for coordinated work at different levels. Within the school, this coordination must exist, between teachers in different levels and between the different professionals in the school setting (peripatetic teaching staff, support teachers, etc.).…”

A systematic review of research into rare diseases in the educational sphere

“…This study confirmed both the existence of pupils with RDs in ordinary schools and that of an educational response aimed at them. However, despite the existence of this response, parents with severely disabled children were less happy with the education system than the rest and considered family-centred attention and multidisciplinary work to be essential (Silibello et al, 2016).…”

“…Thus, only six (Barrio and Castro, 2008;Han, 2008;Lee and Lee, 2014;Lin et al, 2013;Silibello et al, 2016;Waldman et al, 2008) of the studies analysed were at all related or included any information of interest to the education/school sphere.…”

“…Going a little further in the analysis of the situation of people with RDs, the study by Silibello et al (2016) recorded, through questionnaires, Darretxe et al 593 the voice of 154 families with children with RDs in the school context. This study confirmed both the existence of pupils with RDs in ordinary schools and that of an educational response aimed at them.…”

Experiencias Y Necesidades Percibidas Por Las Familias Con Un Hijo Con Enfermedad Rara, Síndrome De Cach

“…En este último ámbito, los cambios que conlleva la evolución de la enfermedad hacen que en algunas de las situaciones la atención educativa no sea la adecuada, o dentro del marco inclusivo recomendado. A pesar de que la incidencia de estudiantes con enfermedades raras está incrementando significativamente en los niños de 3 a 14 años (Darretxe, Gaintza, & Monzón-González, 2017), y aunque la respuesta educativa se ofrece en los colegios ordinarios generalmente, los padres no están conformes con el sistema educativo y consideran esencial el trabajo multidisciplinar y centrado en la familia (Silibello, Vizziello, Gallucci, et al, 2016).…”