Phelan Mcdermid Syndrome Foundation

CARE program: The organization is committed to recruiting, educating, and ensuring a robust network of physicians and clinicians (who are familiar with and educated about the unique aspects of the multidisciplinary care needs involved with Phelan-McDermid syndrome) are available to families. The organization continues to create and provide multimedia materials to enhance understanding and educate healthcare professionals. To strengthen an expert clinical network for Phelan McDermid syndrome, the organization works to 1)share and discuss research and medical findings, exchange information and insights about the lived experience 2)promote better coordination of care through evidence-based information and translate research and innovation into clinical care 3) raise awareness with healthcare professionals and families to ensure patients get the right diagnosis faster and connect to the available information and resources 4)build a medical expertise network to enhance the quality and coordination of care.

CURE program (formerly research support): The organization works to facilitate research and data collection to advance treatments and cures by 1) centering patients and their families in conversations about external research studies and organization funding programs 2) attracting clinical studies and preparing families to participate in those studies 3) enabling coordinated and collaborative research and data collection to facilitate the monitoring and cross cutting knowledge of rare disorders which informs care management, treatments and health system planning 4) targeting increased participation in the PMSF DataHub which in turn can be marketed to science, research, and pharmaceutical companies.