Ways of announcing a late-onset, heritable, disabling disease and their psychological consequences

The way of announcing a late-onset, heritable, disabling disease, and the impact of this realisation on the patient's life, were studied by means of unstructured interviews conducted with 10 neurologists and 22 patients. All physicians announced the name of the disease to the patient, and considered it important to do so. At the same time they also provided explanations concerning the unpredictable prognosis, the absence of curative therapy, and genetic transmission. It was extremely shocking for the patients to learn that their illness is a myopathy and furthermore that it is genetically transmissible. This shock was linked to the naming of the disease, which represented an abrupt transition in the patient's life. Patients feel that this moment marks the beginning of social exclusion. A strong disavowal of the disease is developed, regarding its disabling and heritable characteristics. This disavowal hampers reconstruction of the personality. A post-diagnostic follow-up by a genetic counsellor is highly recommended for patients and relatives alike. This should allow the patient to mourn his/her previous life, a prerequisite for positive rebuilding.