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The diagnostic odyssey for people living with rare diseases is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey. This often results in isolation, uncertainty, a delay to targeted treatments and increase in risk of complications with significant consequences for patient and family wellbeing.
This article aims to highlight key time points to consider a rare disease diagnosis along with elements to consider in the potential operational classification for undiagnosed rare diseases during the diagnostic odyssey. Also the need to create a coding framework that traverses all stages of the diagnostic odyssey for people living with rare diseases along with the potential benefits this will have to those people and the wider community are discussed. Read the full article here.