Diagnosis of rare diseases and participation of parent caregivers in a complex care context Elements of analysis from a qualitative study

This article focuses on parental involvement in the diagnostic pathway for children concerned by a rare disease. The diagnostic process is particularly long and complex in these cases. It can lead to inadequate or delayed care of the child, psychological and psychic suffering for the parents and additional costs for the health system. Interviews with eighteen parents of children with or suspected of having rare diseases reveal the diversity of forms of parental involvement in the diagnostic process. These are not always in line with the parents' preferences: from involuntary non-integration, where the parents are not listened to and are excluded from the diagnostic research, to involuntary pro-active participation, where the parents' participation compensates for the health system's shortcomings in the diagnostic research. Greater recognition of parents' experiential and lay knowledge by professionals, easier access to information and support for parents' empowerment, as well as better organization and structuring of rare disease care (with more rapid referrals, better city-hospital coordination and multidisciplinary and comprehensive care) would help support their participation and could ultimately reduce diagnostic errancy and the particularly difficult experience of parents in this process. These levers of action are necessary in order to avoid reinforcing social inequalities in health between families who are able to mobilize different types of capital (human, social, financial) to compensate for the failures of the health system and those who are not.