A Patient Centred Approach to Rare Disease Technology

Rare disease patients face a long, arduous process to obtain a correct diagnosis. This often involves multiple misdiagnoses, leading to undue treatments and surgeries; patients are left feeling unheard by their healthcare providers and are even isolated from their peers who ‘just don’t understand’. Research to support clinicians in diagnosing rare disease patients has made great strides. However, little research aims to support the patients through this challenging time; and those that do, demonstrate minimal patient input in the design process. This is the first paper that uses methodologically robust patient driven design of pre-diagnostic technologies for rare disease patients. We conducted two workshops with rare disease patients to design a probe technology and subsequently evaluated the probe using a questionnaire. This revealed that rare disease patients predominantly wanted clinician communication aids (90.5%) and social support (61.9%) from technology, rather than the informational support that is typical with patient technology.