This project aims to research patient and family experiences of diagnosis in mitochondrial disease to help understand and provide evidence of what going through diagnosis is like for patients and families, in order to improve understanding and support for people going through diagnosis in the future.
What is this study about?
This study aims to explore the experiences and impact of diagnosis in mitochondrial disease, including genetic testing and receiving genetic results where applicable, from the patient and family point of view.
Who can take part?
We are looking to interview adults (aged 18+) who have mitochondrial disease themselves, and adults who are family members, guardians or caregivers to someone of any age who has mitochondrial disease, or had a diagnosis of mitochondrial disease in their lifetime. All participants must be able to understand, read and speak English and provide written consent (electronically) to participate in the research.
What is involved in taking part?
Participating in this study will involve a single interview via Zoom which will take 45-60 minutes, between December 2022 and March 2023. In this interview the researcher will ask questions allowing you to tell your story of diagnosis in mitochondrial disease, and to explore what this has been like for you and your family.
How do I find out more?
The research is being conducted by Dr Stella Johnson, MSc student in Genetic and Genomic Counselling at Cardiff University, and supervised by Dr Rebecca Dimond from Cardiff University School of Social Science.
Full details of the study can be found by downloading the Participant Information Sheet for the study
For more information about this project or to volunteer to take part in the study please contact Stella Johnson, by email: [email protected]
