Summary
The purpose of this survey is to increase our understanding of the difficult, confusing, and burdensome “Diagnostic Odyssey” which patients with mitochondrial disease frequently experience.
For Diseases
This study is for individuals diagnosed with mitochondrial disease by a doctor.
Mitochondrial diseases are rare but very serious genetic disorders caused by defects in the mitochondrial or energy-producing cells in the body. Few treatments are available. Most mitochondrial diseases get worse the older a person gets. Symptoms vary widely. They include developmental delay or regression, muscle weakness, seizures, mental retardation, dementia, hearing loss, blindness, strokes, diabetes, and premature death.
Background
A previous survey, Odyssey1, provided valuable information on the Diagnostic Odyssey. Odyssey2 will increase our understanding of how long it takes for patients to receive a diagnosis of mitochondrial disease, how this process is changing as new tests are being developed, and the impact of a mitochondrial diagnosis. It asks 7 questions.
- How long from when patients first notice symptoms to when they receive a diagnosis of mitochondrial disease?
- How many physicians do patients usually see before their mitochondrial diagnosis?
- What tests to patients have?
- What other diagnoses (not for mitochondrial disease) do patients receive?
- How does receiving a mitochondrial disease diagnosis affect the patient’s life?
- If the patient learned that their mitochondrial diagnosis was incorrect, what impact do they think would that have?
- Have any of 1-6 changed since Odyssey1?
This study is no longer recruiting patients.
Summary
The goal of this study is to find the best way to help people with primary mitochondrial disease deal with the stress of their condition, and to help these people be better able to "bounce back," or be resilient. In order to do this, the investigators are going to test two interventions (an intervention means that it aims to change something): Promoting Resilience in Stress Management (PRISM) and clinical-focused narrative (CFN) intervention.
Description
The investigators are going to test two interventions in this pilot study. The first is called Promoting Resilience in Stress Management (PRISM). The second is called clinical-focused narrative (CFN) intervention. These interventions involve talking with the researcher about several specific topics.
Participants will join six virtual study visits. They will be assigned to the PRISM group or the CFN group. During the first study visit, participants will learn about the study and will fill out consent forms if they want to participate. In the next four visits, participants will receive one of the study interventions (PRISM or CFN). Some interventions will be supported with a digital app for participants to track progress and review what was talked about in the intervention. The sixth virtual study visit will be a discussion group that happens a couple months after participants finish the intervention.
Participants will also be sent several surveys to complete. One set of surveys is sent just once after the participant enrolls in the study. Another set of surveys is sent after the participant enrolls and again after the participant finishes the interventions.
The study team will review participants' medical records to confirm they have primary mitochondrial disease and to review the genetic diagnosis. If participants do not have copies of their own medical records or if the study team does not already have access to them, the study team will ask participants to sign a release form to obtain a copy of the medical records and/or genetic testing report.
How to participate
In order to participate in a study, you may contact any of the participating sites.