Project Summary
A Twist of Fate-ATS is the only 501c3/patient group in the world focused on a very rare genetic connective tissue disorder: arterial tortuosity syndrome. ATS is known to cause elongation of the mid- and large-sized arteries throughout the body, causing them to kink and twist. This can cause extreme pressures in the heart and can lead to heart attack, stroke, aneurysm, heart failure, and premature death. Researchers are learning more about arterial tortuosity syndrome every day. Some patients have severe hypermobility, a rare eye condition that causes the corneas to be too thin and misshapen, heart issues, pulmonary insufficiency, and many other very serious and debilitating issues. ATS is known to have a 40 percent mortality rate by age 5. With PCORI's help, the project team will be changing the face of ATS and creating better, healthier lives for those who are affected by ATS. Our proposed solution is to host conferences to bring patient/families and specialists together to identify where the gaps are in the ATS healthcare system, to share and provide education for research projects past, present, and future, to discuss clinical treatment options, which are working, which are not, and any new options that have been gained through patient-centered research, as well to create educational materials for the patients/families, researchers, physicians, and other stakeholders to bridge the knowledge gaps we discovered. This will be achievable through various breakout sessions during the conferences and special times for round table discussions with all stakeholders. This will then be used to facilitate comparative effectiveness research and produce educational materials for the public such as but not limited to brochures, flyers, pamphlets, and documentaries.