PHELAN MCDERMID SYNDROME FOUNDATION
8 Sorrento Drive, Osprey, FL 34229 pmsf.org

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Organizations Filed Purposes: The mission of the Phelan-McDermid Syndrome Foundation is to improve the quality of life of people affected by Phelan-McDermid Syndrome worldwide by accelerating research, providing family support and raising awareness.

RESEARCH SUPPORT: The PMSF Research program was established to improve the quality of life for individuals and families affected by PMS by fostering sound genetic, biological, and medical research related to the cause, effects, diagnosis, and effective treatments of PMS. The goal is to increase stakeholder understanding of the Phelan-McDermid syndrome diagnosis, the genotype-phenotype correlations, natural history, biomarkers, and therapeutics. PMSF is supported by an international Scientific Advisory Committee and has developed strategic partnerships in the research and rare disease community to find ways to generate, support, and sustain the advancement of research in the areas of genetics, neurology, biology, and other disciplines that would benefit those affected by PMS. Central to the Research program, PMSF developed and maintains the largest patient data registry in the world. PMSF enables families to participate in research by sharing de-identified patient data and helping with research study recruitment to further the understanding of and research in PMS.

FAMILY SUPPORT: PMSF supports families by providing a peer-to-peer network of Regional Representatives (REPs) who welcome, inform and support families in the membership, PMSF fosters family interaction through the philosophy that parents of children and adults with PMS have a wealth of knowledge and experience to share with each other. Regional REPs are trained to actively listen to families' concerns, suggest resources and connect them with other families who share their challenges, concerns and interests. REPs help families connect with one another to exchange ideas and information about therapies and medical issues, as they face new challenges. These families have more in common than just having a child with a disability, they share a need for emotional support and understanding from other families that are going through similar challenges every day. A sense of belonging is vital to our families as it provides a connection to others, even though they may be hundreds or thousands of miles away. The Family Support program promotes interaction in many ways including a biennial family conference, monthly newsletters, a website, social networking, fundraising and advocacy events, and regional gatherings.

ADVOCACY AND AWARENESS: Everyone in the Phelan-McDermid community is an advocate who increases awareness, hope, and action toward our Foundation's mission. Our program goal is to raise awareness and to empower stakeholders to advocate for research, funding, support services, and legislative initiatives that improve the lives of everyone affected by PMS. This program is focused on sharing information and establishing partnerships within the medical, research, and corporate, pharmaceutical, and rare disease communities. Program objectives include (1) enlisting support in the advancement of research and research funding by participating in national and international forums focused on developing treatments, therapies, and cures for rare diseases. (2) Developing collaborations with national organizations focused in improving the quality of life and quality of services for people with disabilities and disseminating information to the PMS community. (3) Developing legislative priorities for the PMS community and working collaboratively with local, state, country and international bodies to share the PMS patient voice on legislative issues that affect our population.

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