Phelan Mcdermid Syndrome Foundation

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 PHELAN-MCDERMID SYNDROME FOUNDATION (PMSF) WORKS CLOSELY WITH RESEARCHERS, PHARMACOLOGICAL COMPANIES, BIOTECHNOLOGY, ACADEMIC INSTITUTIONS, AND OTHER EXTERNAL SCIENTISTS WITH THE ULTIMATE GOAL OF FINDING EFFECTIVE TREATMENTS FOR PHELAN-MCDERMID SYNDROME (PMS). THE PMSF CONTRIBUTES TO RESEARCH BY BREAKING DOWN BARRIERS TO PATIENT PARTICIPATION. WE PROVIDE INFORMATION AND ACCESS TO RESEARCH OPPORTUNITIES AS WELL AS OFFER FINANCIAL ASSISTANCE FOR TRAVEL COSTS TO CERTAIN RESEARCH SITES. WE WORK WITH OUR INTERNATIONAL SCIENTIFIC ADVISORY COMMITTEE (SAC) TO SET STRATEGIC GOALS IN RESEARCH AND SCIENCE FOR THE PMSF AND TO STAY INFORMED OF INTERNATIONAL PMS PROJECTS AND RESEARCH.

FAMILY SUPPORT: THE PHELAN-MCDERMID SYNDROME FOUNDATION (PMSF) IS THE LARGEST PATIENT ADVOCACY GROUP (PAG) FOR PHELAN-MCDERMID SYNDROME (PMS) IN THE WORLD. THE PMSF WAS ESTABLISHED TO PROVIDE CRITICAL INFORMATION AND SUPPORT TO EMPOWER FAMILIES AFFECTED BY THIS RARE CONDITION. THE PMSF AND OUR ENTIREW COMMUNITY OF FAMILIES, RESEARCHERS, CLINICIANS, AND FRIENDS SHARE EVERYTHING WE KNOW ABOUT PMS AND PROVIDE CONNECTIONS TO A GLOBAL COMMUNITY. WE HAVE CREATED A WORLDWIDE VIRTUAL AND LOCAL COMMUNITY. THE PMSF RECEIVES DAILY CONTACT FROM FAMILIES, EXTENDED FAMILIES, CLINICIANS, AND RESEARCHERS THROUGH EMAIL, SOCIAL MEDIA, PHONE, AND OTHER AVENUES. EVERY TWO YEARS, FAMILIES, RESEARCHERS, CLINICIANS, AND OTHERS WHO SUPPORT PEOPLE WITH PHELAN-MCDERMID SYNDROME COME TOGETHER AT THE INTERNATIONAL FAMILY CONFERENCE TO LAUGH, SHARE AND LEARN. FAMILIES REPORT THAT THE PMSF INTERNATIONAL FAMILY CONFERENCE IS LIFE-CHANGING. IN NON-CONFERENCE YEARS, THE PMSF STRIVES TO CREATE A VIRTUAL OR IN-PERSON REGIONAL CONFERENCE. WE PARTNER WITH A CLINICAL CARE CENTER IN A MAJOR CITY AND INVITE SPEAKERS TO PRESENT THEIR WORK TO OUR FAMILIES. THE PMSF REGIONAL REPS COORDINATE PERIODIC IN-PERSON GATHERINGS TO HELP FAMILIES CREATE CONNECTIONS, SHARE STORIES AND SUPPORT EACH OTHER.

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.