Background: Vascular Ehlers-Danlos syndrome (vEDS) is a rare, genetically triggered condition, meaning that it can be inherited from your parents, or it can be the result of a random genetic mutation. It is generally considered to be the most severe subtype of Ehlers-Danlos syndrome. The condition affects the body’s connective tissue, and patients with vEDS have a high risk of rupture and hemorrhage of their arteries, bowels, and uterus during pregnancy. Due to the wide number of organ systems that are impacted by vEDS, patients may require care by clinicians from multiple specialties (geneticists, vascular surgeons, pulmonologists, general surgeons, and obstetricians). The vEDS Collaborative was created in 2017, and represents a broad coalition of stakeholders. The group meets monthly, and is dedicated to publishing a list of prioritized patient-centered research questions.
Objectives: Building on previous work done by the collaborative, this proposed work aims to refine the research questions prioritized by stakeholders in 2018 to create the foundation for many feasible research projects that focus on patients’ perspectives and experiences.
Activities: The primary activity proposed is the planning and facilitation of a patient-centered research conference to take place in 2019. This conference will be attended primarily in person, but will have components of remote participation.
Outcomes: By the end of this project, the team hopes to publish several comparative effectiveness research fact sheets, build sustainable partnerships between patients and researchers, and to refine the highest-priority research questions generated by the collaborative in 2018 into feasible research proposals.
Patient and Stakeholder Engagement Plan: The guidance of patients and stakeholders in the vEDS community has been invaluable to moving the project forward, and the team plans to continue to utilize their expertise and incorporate their perspectives into all aspects of future work. At least one representative from each of the organizations below has regularly attended meetings of the vEDS Collaborative, and participated in all aspects of decision making around the governance structure, and planning the 2018 vEDS Collaborative research meeting.
Project Collaborators: FightEDS.org was founded by two brothers, John and Dave DeMasi, in order to “unify the vascular Ehlers-Danlos Syndrome community in North America and to improve patient outcomes through advancements in research, management and treatment of vEDS.” John and Dave have participated in nearly all advisory and stakeholder group meetings to date. Ryan’s Challenge is a Texas-based nonprofit, founded by a parent of a child with vEDS, and focused on raising awareness of vascular EDS. The founder, Kyle Dolliver, has been an active part of the vEDS Collaborative Stakeholder Group from the beginning of the project. The EDS Society was founded in 1985, and is a “global community of patients, caregivers, health care professionals, and supporters, dedicated to saving and improving the lives of those affected by the Ehlers-Danlos syndromes.” The Executive Director, Lara Bloom, is a partner in the vEDS Collaborative Stakeholder Group. The DEFY Foundation was started in 2015 by a vEDS patient, Emma Yasick, and her family. They have deep experience with planning international events aimed at bringing the vEDS community together. Emma and her cofounder Justin Borreggine are both active members of the vEDS Collaborative Stakeholder Group.