The disclosure of a diagnosis is a pivotal event in a patient’s care pathway and has been the subject of extensive research across various medical fields, particularly in oncology and psychiatry. However, the specific characteristics of the diagnostic disclosure in neuromuscular diseases — which are distinguished by the fact that they are rare, chronic, progressive and often of genetic origin — have been little studied scientifically.
The aim of this study, conducted by French clinical psychologist in collaboration with experts from the Institute of Myology*, is to explore the memories that patients with neuromuscular diseases retain of the delivery of their diagnosis as part of a retrospective study.
The authors conducted semi-structured interviews with 30 patients who had been diagnosed with a neuromuscular disorder between 1 and 37 years prior to their participation in the study. Following transcription of the recordings, a textual analysis of the corpus was carried out.
Four main themes were identified in the patients’ accounts:
- Confirmation of diagnostic results: confirmation of the diagnosis appears to be a pivotal moment in the care pathway, marking the end of a period of uncertainty and the start of the process of coming to terms with the illness. This moment constitutes a biographical turning point that transforms self-perception and establishes a new relationship with the body, healthcare and the future.
- Diagnostic uncertainty: patients describe a long and iterative diagnostic journey, marked by multiple consultations, tests and referrals between specialists. This period of uncertainty can lead to frustration, fatigue and a loss of confidence, influencing how patients experience and remember the final diagnosis.
- The mixed experience of the diagnosis: the diagnosis is experienced with ambivalence, combining distress at the prognosis with relief at finally having a name for the condition. The experience depends heavily on the relational aspect of the consultation, particularly the quality of the explanation, the doctor’s empathy and their ability to adapt their communication style. towards relatives.
- The significance of the genetic aspect: the genetic aspect presents patients with the challenge of understanding and integrating complex scientific and technical information into their personal history. Furthermore, the diagnosis of neuromuscular disorders extends beyond the patient’s own experience to affect the family as a whole, raising issues of inheritance and responsibility towards loved ones.
The findings from this exploration of these memories could help improve the conditions under which such diagnoses are communicated and be extended to the delivery of diagnoses for other chronic and progressive diseases with a genetic component.
* Bettina Beaujard (Clinical Psychologist) and Marcela Gargiulo (Clinical Psychologist and PU in psychology) work in the Psychology and neuropsychology team, and Antony Béhin (Neurologist) at the Service of Neuro-Myology of the Institute.
