Survey Observatory of Rare Diseases 2011 FRESH-PEF8427-en Thomas HEUYER Survey Observatory of Rare Diseases 2011 FRESH-PEF8427-en 8427 FRESH-PEF8427 Thomas HEUYER MALADIES RARES INFO SERVICES Epidemiology France Portal (PEF) ASS FRANCAISE CONTRE LES MYOPATHIES (AFM) null Thomas;HEUYER Long term illness chronic disease misdiagnosis error access to information healthcare out of pocket payments renouncement to healthcare. ALD medical care 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 studied three topics: - Misdiagnosis; - Access to information; - Financial support for healthcare, products and service delivery. 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) Status: patients, their spouses, their children or their parents. - Pathology: prevalence rate inferior or equal to one out of 2000 people, according to the data presented in Orphanet on the prevalence of rare diseases - In the absence of a diagnosis: in this situation, or the patient is likely to be affected by a rare disease, or the situation referred to hypochondria, mythomania... The Telephone Contact and Information person was in charge of assessing whether the situation referred to by the caller corresponded to the first or the second hypothesis and wether it was worth collecting data. Participant-reported health data Health event/morbidity Health care consumption and services Quality of life/health perception 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 198 individuals out of the 361 asked participated in the quantitative survey. (322 individuals participated in the qualitative study allowing to build the quantitative questionnaire) Completed study Restricted access Contact the principal investigator Access on specific project only