“If not me, who?”: Awareness- and Self-Advocacy-Related Experiences of Adults With Diverse Rare Disorders

Abstract

In a two-study project, researchers used qualitative methods and inductive thematic analyses to investigate the lived awareness- and advocacy-related experiences of 27 adults with over 35 different rare diseases, disorders, or disabilities (RDs). In Study 1, participants in two focus groups described how a lack of RD awareness led to experiences with several types of stigma, complicated their expressions and disclosures of disability, and spurred them to work towards awareness. Participant priorities identified in Study 1 motivated researchers to design and conduct Study 2. In Study 2, researchers interviewed 18 RD self-advocates about their lived experiences with and ideas regarding advocacy. Their recommendations included increasing social and systemic support, education, and media and professional representation. Advocates in Study 2 also warned of potential roadblocks to self-advocacy and change, including systemic invalidation and bias, lack of access to activist spaces, and limited time and energy for advocacy. Overall, analyses exposed the complex and interwoven influences of RD awareness and advocacy.

Walk a mile in my shoes: perspectives towards sharing of health and experience data among individuals living with sickle cell disorder

“…It is this ability, to collect, curate and interrogate digitally derived health data which is of particular interest within rare disorders, a group of more than 10,000 conditions, affecting approximately 350,000,000 people worldwide ( 10 ). Exceptionally little is known about the day-to-day impact of these conditions ( 11 ), how they affect quality-of-life, symptoms, treatment side effects, and importantly, the unmet needs individuals living with rare disorders face. In this regard, our understanding of rare disorders is not dissimilar to our understanding of COVID-19 early in the pandemic.…”