The Society for Social Work and Research

2013 Annual Conference

January 16-20, 2013 I Sheraton San Diego Hotel and Marina I San Diego, CA

Going/Being Public: Emerging Adults in a Rare Disease Community

Saturday, January 19, 2013: 5:00 PM
Marina 2 (Sheraton San Diego Hotel & Marina)
* noted as presenting author
Maya Doyle, LCSW, Doctoral Candidate, New York University, New York, NY

Medical advances have allowed for the transmutation of cystinosis, a rare metabolic disease, from fatal in childhood, to chronic and manageable well into adulthood, creating new challenges for patients and providers. While rare disease can be an isolating experience, disease-specific advocacy groups and opportunities for interaction via the internet are changing the experience of illness, particularly for adults surviving with cystinosis..

Methods: Adult men and women living with cystinosis, and parents of adults with cystinosis, were recruited online via the Cystinosis Research Network and the Cure Cystinosis Now registry. Focus groups and/or semi-structured interviews were conducted with: 9 women (ages 18-39) and 12 men (ages 18-47) with cystinosis, and with 12 mothers and 12 fathers. The study utilized  a classic Grounded Theory (GT) approach to understanding the experience of adults living with cystinosis, in the context of changing medicine; coding and constant comparative analysis guided data collection and analysis.

Results: Individuals with cystinosis and their families have received a conditional reprieve from lethality, which they experience in individual, family, and community contexts. Individuals participate in the actual and virtual disease community in numerous ways, including  likening, comparing notes, witnessing and scaling, buffering, advising, advocating, and going/being public. Going/being public – being visible with illness - carries emotional and social benefits and risks, particularly within a small rare disease community. Adults living with the illness particularly face the “rhetoric” of their disease being described as fatal while they survive. Most participants described a strong sense of fellowship with others with the disease, even though geographically disparate, compared to extended family members and to care providers (including social workers) who did not fully understand their experience. Most adults with cystinosis perceived themselves as role models, symbols of hope and the possibility of survival, but some perceived ostracism from younger patients and their families who view them as examples of disease progression and disability. Going/being public creates the potential for compromised privacy, being overly-identified by one’s illness,  and conflict with other community members.


Individuals with rare disease  and their families benefit from connection to others who have “walked in their shoes”. Becoming an advisor, role model, advocate, or simply an active community member helps individuals negotiate living with illness AND emerging adulthood, yet going/being public about one’s health condition carries emotional and social risk. Increasing awareness by social workers and multi-disciplinary healthcare teams to the needs of “transmuted” and rare disease populations, and the resources available to them,  is needed.