Survey Observatory of Rare Diseases 2012 FRESH-PEF8422-en Thomas HEUYER Survey Observatory of Rare Diseases 2012 FRESH-PEF8422-en 8422 FRESH-PEF8422 Thomas HEUYER MALADIES RARES INFO SERVICES Epidemiology France Portal (PEF) ASS FRANCAISE CONTRE LES MYOPATHIES (AFM) null Thomas;HEUYER Diagnosis announcement medical treatments financial difficulties coordination between physicians support interpersonal surrounding orphan medicinal products. monitoring healthcare Healthcare system determinants: Use of care Socio-demographic and economic determinants Biological determinants: Genetic predisposition Healthcare system determinants Biological determinants The objective of the Observatory is to provide to all skateholders involved in the fight against rare diseases reliable data highlighting important issues to which patients and their families are confronted. These data must allow not only to identify those issues but also to bring forward proposals to mitigate them. This survey covered three topics: - Communication about the diagnosis; - Pratical difficulties linked to drugs and other medical products; - Coordination among the healthcare workforce. null France Individuals Patients population Male Female Infant, Newborn (birth to 28 days) Infant (28 days to 2 years) Child, Preschool (2 to 5 years) Child (6 to 12 years) Young Adult (19 to 24 years) Adult (25 to 44 years) Middle Aged (45 to 64 years) Aged (65 to 79 years) Aged, 80 and over (80 years and more) Being a patient or a family member of the patient (parents, grand-parents, chilren, spouses); - Being affected by a rare disease (prevalence rate inferior or equal to one out of 2000 people); - Being able to participate in the survey (the survey was not proposed to people in distress, in a state of psychological fragility...) Participant-reported health data Health event/morbidity Health care consumption and services Quality of life/health perception Others One-time cross-sectional study Other Through organizations (health services or institutions schools businesses etc.) < 500 individuals Converting or copying information into a structured record Interview with the participant (including clinical) Observational Study Observational Study 244 questionnaires were collected (137 paper forms and 107 online questionnaires) and 239 were included in the final analysis. Completed study Restricted access Contact the principal investigator Access on specific project only