Context: Diagnosis announcement of a chronic disease is a crucial moment for patients as well as for their families and an important step of the management of severe conditions like rare endocrine diseases. It is considered as an eternal minute, marking the end of a time of life when the disease was absent. Little is known on how diagnosis is communicated to patients and families. FIRENDO as defined by the National Plan for Rare Diseases aims at promoting education, care and research on rare endocrine diseases. Patients associations are FIRENDO active members and listed as a main subject diagnostic announcement and its consequences on disease management.
Objectives: The aim of this study was to characterize for the first time the experience of patients and/or their parents around the announcement of diagnosis, and to define their needs in order to ensure optimal quality of care.
Methods: A quantitative self-administered survey on diagnosis announcement procedures in rare endocrine diseases was launched in April 2017 under the auspices of the FIRENDO thematic working group in collaboration with its partnering patient support groups. The questionnaire was designed by 2 adult and 2 pediatric endocrinologists, 2 psychologists and 1 biologist, all experts in rare endocrine diseases, and revised by patient support groups representatives; it was made available on the FIRENDO network website and spread mainly by email to members of the 16 patient support groups affiliated to the network, with electronic links on their respective websites.
Results: Questionnaires were filled by 391 patients and 223 parents (median age of patients: 39 years). The following conditions were represented by 30 answers or more: Addisons disease, classical forms of Congenital Adrenal Hyperplasia (CAH), Silver-Russel syndrome, Cushings syndrome, acromegaly and craniopharyngiomas. The analysis revealed that some modalities of announcement were considered as favorable by patients: the physicians empathy, availability and use of clear terms, presence of family at the time of announcement. However, a lack of psychological care and information documents was reported as well as some inadequate procedures like postal mail announcements.
Conclusion: This work confirmed that better knowledge of the patients experience is useful for improving the diagnosis announcement of rare endocrine disorders. The main recommendations derived from the survey were the need for several announcement visits, and informing on patient support groups and reference centers; the ban of impersonal announcement and the usefulness of a written accompanying document.
18 - 21 May 2019
European Society of Endocrinology