Advancing Adult Leadership in Cystinosis Advocacy and Support

Presented by Professor Maya Doyle, Associate Professor of Social Work, School of Health Sciences & Clinical Assistant Professor, Frank H. Netter MD School of Medicine, Quinnipiac University, USA

Co-presenters: two members of the Adult Leadership Advisory Board (ALAB) – Ms Cheryl Simeons and Ms Karen Gledhill

Lay Summary:  The Adult Leadership Advisory Board has been convened by CRN in the US to strength the voice of adult patients with cystinosis, to utilize peer support to provide advice and companionship, and to continue advocacy for research, improved treatments and cure. We describe its structure and first year of projects.

Introduction: Cystinosis is a rare metabolic disease affecting every cell in the body, with particular impact on kidneys, eyes, and muscles.  Improved treatment – kidney transplant, immunosuppression, and cysteamine – has extended the lifespans of those with cystinosis from adolescence well into adulthood,(Doyle & Werner-Lin, 2015; Nesterova & Gahl, 2013) but challenges remain. Patients with cystinosis are taking an active role in advocacy, done by caregivers in the past.

 Methods: Following 10 years of research and advocacy related to the transition to adulthood, the Cystinosis Research Network (CRN) convened its Adult Leadership Advisory Board (ALAB) in 2018 as a formal way of empowering patients.  Peer support amongst those with chronic health conditions has been demonstrated to improve knowledge and coping, improve communication with healthcare providers, support better adherence, reduce isolation, and empower individual health decision-making and advocacy efforts. Social support and the influence of others, in person and through social media, can have an impact on personal health behaviors.  ALAB’s intention is to nurture patients who have cystinosis, and provide guidance along the disease process with advice, support, and companionship. The ALAB philosophy is that those who have lived it, can teach it.

Results: The goal of all ALAB projects is to use newer communication technologies to reach crucial young adult and adult constituents with cystinosis. For 2019-2020, ALAB projects include video conferencing, podcasts on issues such as mental health, relationships, and regimen adherence; and teen-oriented Instagram updates highlighting community members’ challenges and successes.

  • Cystinosis SESSIONS video conferencing– provides a face to face online platform to share experiences and educate cystinosis patients, parents, caregivers, and healthcare professionals in a knowledgeable and comfortable environment.
  • Cystinosis RARE: A Journey Into the Unknown – quarterly Podcasts, hosted by individuals living with cystinosis, delivers community and provider input, highlighting topics such as mental health, cystinosis success stories, teen to adult transition, and educational system challenges.
  • Cystinosis TEENS Instagram Updates – provides a private/closed Instagram account, moderated by ALAB members, focused on challenging issues, spotlighting individuals and highlighting successes, as a safe forum for teens.

Brief survey instruments have  been created and disseminated by email to assess satisfaction and impact of these projects. New projects will be developed over time as ALAB leadership rotates and new concerns arise.

Conclusions: Recipients of ALAB content will strengthen their knowledge of cystinosis (i.e., treatment options, adherence); education, employment, and relationships; navigating the healthcare system; and overall problem-solving. Those creating ALAB project content will gain teaching and leadership skills, and motivation for their own disease management and coping. ALAB members representing this rare disease community want healthcare providers and researchers to recognize that patients are well-versed in their own disease and can clearly speak about how it impacts their lives.


Doyle, M., & Werner-Lin, A. (2015, 2015/02/01). That eagle covering me: transitioning and connected autonomy for emerging adults with cystinosis. Pediatric Nephrology, 30(2), 281-291.

Nesterova, G., & Gahl, W. A. (2013, Jan). Cystinosis: the evolution of a treatable disease. Pediatr Nephrol, 28(1), 51-59.