The experience of diagnosis announcement in rare endocrine diseases: a survey of the French FIRENDO network

International audienceContextDiagnosis announcement of a chronic disease is a crucial moment for patients as well asfor their families and an important step in the management of severe conditions such asrare endocrine diseases. Little is known of how diagnosis is communicated to patients andfamilies. The FIRENDO network was created by the third French Plan for Rare Diseases,to promote autonomy, care and research on rare endocrine diseases.ObjectivesThe aim of this study was to characterize, for the first time, the experience and needs ofpatients and/or their parents around the announcement of diagnosis to ensure optimalquality of care.MethodsA quantitative self-administered survey on diagnosis announcement procedures in rareendocrine diseases was launched in April 2017 by the ad hoc FIRENDO thematic workinggroup in collaboration with its 11 partnering patient associations and support groups. Thequestionnaire was designed and revised by patient support group representatives, adultand pediatric endocrinologists, psychologists and biologists, all expert in rare endocrinediseases. It was made available on the FIRENDO network website and distributed mainlyby email with electronic links on their respective websites to members of all affiliatedpatient support groups.ResultsPage 3 of 24Journal Pre-proofQuestionnaires were filled out by 391 patients and 223 parents (median age of patients: 39years). The following conditions were associated with at least 30 answers: Addison’sdisease, classical forms of congenital adrenal hyperplasia (CAH), Russell-Silversyndrome, Cushing’s syndrome, acromegaly and craniopharyngioma. Overall, someannouncement modalities were judged favorably by patients: physician’s empathy,availability and use of clear terms, and presence of family at the time of announcement.However, a lack of psychological care and information documents was reported, as well assome inadequate procedures such as postal mail announcements.ConclusionThis work suggests that better knowledge of the patient’s experience is useful forimproving the diagnosis announcement of rare endocrine disorders. The mainrecommendations derived from the survey were the need for several announcement visits,information on patient support groups and reference centers, imperatively avoidingimpersonal announcement, and the usefulness of a written accompanying document