Long and Winding Road: Insights from “The Evolution of the Mitochondrial Disease Diagnostic Odyssey”

Among rare diseases, mitochondrial disorders are relatively common, with an estimated overall prevalence of 11.5:100,000¹.  Like other rare conditions, mitochondrial dysfunction manifests differently among individuals and can cause problems in multiple areas of the body, bring on severe symptoms and negatively affect a person’s overall quality of life.  Our research at Sprout in primary mitochondrial disease shows that people with this condition have diverse experiences and treatment goals.  These range from wanting more energy and fewer naps to aiming for improved muscle strength to perform everyday tasks like taking a shower or reading a book while holding their head up.

Sprout’s Roxy Bahar and Sarah Clifford as well as Abliva’s Magnus Hansson described just how impactful fatigue was on the lives of people with PMD in this interview with Philip Yeske from the United Mitochondrial Disease Foundation.

A Diagnostic Odyssey

A recent paper expands our understanding of the burdens associated with mitochondrial diseases by pointing to the long and potentially harmful journey that many people with mitochondrial dysfunction undergo prior to receiving a diagnosis.  The paper, entitled “The evolution of the mitochondrial disease diagnostic odyssey”¹ analyzes data from the 2018 Odyssey 2 (OD2) survey of 215 people with mitochondrial disease, or their caregivers.  It specifically focuses on:

1. the time from onset of first symptoms to diagnosis (TOD), and
2. the number of doctors a patients see before receiving their diagnosis (NDOCS).

The findings are stark: on average, it took nearly a decade (9.9 years) to get a diagnosis, and some patients in the top 25% waited from 13 to 65 years for one.

The Doctor Shuffle

Patients also saw, on average, 6.7 doctors (+/- 5.2) before they received a diagnosis, with 25% of respondents seeing 10-20+ doctors before being diagnosed.  As with many other rare diseases, patients experienced many initial misdiagnoses, with half of participants reporting that they received a previous non-mitochondrial disease diagnosis.  This shows that getting a diagnosis for mitochondrial disease can be very hard and challenging for many patients. It also suggests a possible problem: the longer it takes to get diagnosed, the higher the risk of complications from unnecessary doctor visits, tests, and treatments.

Beyond Symptoms: The Hidden Burden of Diagnostic Delays

Overall, the work done by Thompson and the team highlights the importance of recognizing that many patients are not only coping with the symptoms and impacts associated with their mitochondrial disorder, which include multiple physical, emotional, social, and financial challenges.  They may also have to handle the impact of a long and frustrating diagnostic journey, which can include misdiagnosis, harmful treatment, or a lack of trust in the medical system.  True patient-centered research and healthcare must include sensitivity to and awareness of the challenges that people with mitochondrial disorders, and rare diseases more generally, face on the path to diagnosis.

Dive into the full paper and join our efforts to improve patient-centered care in mitochondrial disorders: https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02754-x

References:

1. Thompson, J.L.P., Karaa, A., Pham, H. et al. The evolution of the mitochondrial disease diagnostic odyssey. Orphanet J Rare Dis 18, 157 (2023). https://doi.org/10.1186/s13023-023-02754-x