The Invisible Years - Understanding the Journey to Genetic Diagnosis in Mitochondrial Disease Welcome The aim of this survey is to better understand why genetic diagnosis in mitochondrial disease is often delayed and to identify opportunities to support earlier recognition and diagnosis. What do we mean by a genetic diagnosis? For this survey, we consider a mitochondrial disease to be genetically confirmed when genetic testing has identified a pathogenic or likely pathogenic variant in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that is known to cause primary mitochondrial disease. By sharing your experience, you will help researchers better understand the journey from the first signs and symptoms through to diagnosis. Your insights may help improve awareness, inform future research and support the earlier identification of rare diseases. There are no right or wrong answers; we simply want to learn from your experience. The survey should take around 15-20 minutes to complete. Please note that it is not possible to save the survey and return to it at a later time, so it should be completed in a single sitting. Transparency statement This survey has been developed and is being delivered independently by OpalMedica in collaboration with mitochondrial patient organisations and members of the mitochondrial disease community. The project is funded by UCB, which is providing financial support but is not involved in the development of the survey or the collection of participant responses. UCB will receive only anonymised and aggregated results. No identifiable personal information will be shared with UCB or any other third party. About this Survey This survey is delivered through My Rare Journey, developed by OpalMedica. The survey is intended for people with any genetically-confirmed primary mitochondrial disease and is not limited to any specific mitochondrial condition or genetic subtype. Primary mitochondrial diseases are defined as disorders impacting the structure or function of the mitochondria as a result of either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) mutations. Your responses will be combined with those of other participants and analysed anonymously. The findings may be shared in reports, scientific publications, presentations and educational materials. The survey has been designed to understand: • the words and phrases individuals used to describe their earliest signs and symptoms • the reasons progress towards diagnosis stalled • the events or factors that ultimately moved the diagnostic journey forward • the factors that influenced when genetic testing was first consideredThe Invisible Years - Understanding the Journey to Genetic Diagnosis in Mitochondrial Disease Welcome The aim of this survey is to better understand why genetic diagnosis in mitochondrial disease is often delayed and to identify opportunities to support earlier recognition and diagnosis. What do we mean by a genetic diagnosis? For this survey, we consider a mitochondrial disease to be genetically confirmed when genetic testing has identified a pathogenic or likely pathogenic variant in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that is known to cause primary mitochondrial disease. By sharing your experience, you will help researchers better understand the journey from the first signs and symptoms through to diagnosis. Your insights may help improve awareness, inform future research and support the earlier identification of rare diseases. There are no right or wrong answers; we simply want to learn from your experience. The survey should take around 15-20 minutes to complete. Please note that it is not possible to save the survey and return to it at a later time, so it should be completed in a single sitting. Transparency statement This survey has been developed and is being delivered independently by OpalMedica in collaboration with mitochondrial patient organisations and members of the mitochondrial disease community. The project is funded by UCB, which is providing financial support but is not involved in the development of the survey or the collection of participant responses. UCB will receive only anonymised and aggregated results. No identifiable personal information will be shared with UCB or any other third party. About this Survey This survey is delivered through My Rare Journey, developed by OpalMedica. The survey is intended for people with any genetically-confirmed primary mitochondrial disease and is not limited to any specific mitochondrial condition or genetic subtype. Primary mitochondrial diseases are defined as disorders impacting the structure or function of the mitochondria as a result of either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) mutations. Your responses will be combined with those of other participants and analysed anonymously. The findings may be shared in reports, scientific publications, presentations and educational materials. The survey has been designed to understand: • the words and phrases individuals used to describe their earliest signs and symptoms • the reasons progress towards diagnosis stalled • the events or factors that ultimately moved the diagnostic journey forward • the factors that influenced when genetic testing was first considered