The wishes and needs of patients and families affected by sex chromosome aneuploidy (SCA) are notably absent in the planning of research studies. In this proposal, we address the question of whether collaboration between patients, families, clinicians, and scientists will result in actionable outcomes such as improving communication and care in home, clinical, and school/employment settings. To date, patients and families have not had the opportunity to be involved in setting research priorities or planning interventions that would improve clinical outcomes from their point of view. This project is designed to build and give voice to a new community of stakeholders for the purpose of bringing desired interventions with useful and timely outcomes to patients and families. We propose to accomplish this by identifying and engaging key stakeholders in a series of meetings occurring over a two-year period from 2015 to 2017. Patients, families, and other stakeholders will be involved in every aspect of planning, implementation, evaluation, and dissemination of findings.
The projected outputs from this project are stakeholder community engagement for the purpose of influencing and redirecting science toward outcomes that matter to them; planning of family and scientific conferences; expanding awareness of X & Y chromosome variations; and assisting in the design of new studies for interventions while creating new ideas for future programs to help the community.
Project collaborators include the Association of X & Y Chromosome Variations (AXYS); The XXYY Project; ambassadors/stakeholder representatives of the X & Y chromosome variations; and Emory University.