Diagnostic Disruption: How Timing of Diagnosis Impacts Lived Experience in Stickler Syndrome

By Amelia Aves

EMS300 Student Conference 2026

Slide 1: Diagnostic Disruption. A full description follows.

Summary

The concept of 'diagnostic disruption' in relation to Stickler Syndrome is explored, focusing on how the timing of diagnosis influences individuals' perceptions of their past, present, and future. The study, involving interviews with 20 participants, reveals that late diagnoses can lead to significant biographical disruption, while earlier diagnoses facilitate identity integration and proactive management of the condition. Key themes include the implications of diagnosis on personal identity, parental responsibilities regarding genetic transmission, and the need for ongoing support in healthcare. The findings suggest that diagnosis should be viewed as a transformative experience rather than merely a label.