Phelan McDermid Syndrome Foundation
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- Douglas Elliott
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1 Phelan McDermid Syndrome Foundation SUMMARY Mission It is the mission of the Phelan-McDermid Syndrome Foundation to improve the quality of life of people affected by PMS worldwide by providing family support, accelerating research and raising awareness. Contact Information Primary Address Alternate Address 200 Capri Isles Blvd. Suite 7F Venice, FL Capri Isles Blvd. Suite 7F Venice FL Phone Website Facebook Twitter pages/phelan-mcdermid-syndrome- Foundation/ ?ref=ts&fref=ts Phelan_McDermid General Information nprofit Former Names 22q13 Deletion Syndrome Foundation Tax Exempt Status Phelan McDermid Syndrome Foundation Public Supported Charity Incorporation Year 2003 Awarded Community Foundation Grant 1
2 Community Foundation Conducted a Site Visit State Charitable Solicitations Permit Mar 2018 State Registration Mar
3 BACKGROUND & NEEDS Impact Statement Goal 1: To improve the quality of life of parents, families, caregivers and individuals with PMS through positive growth, including effectively understanding and addressing needs, strengthening regional supports, and the creation of targeted centers of family support expertise. Biennial International Conference scheduled for July 2018, expecting over 200 families from 14 countries and 30 researchers to attend. Families and researchers share and learn and bond with our mission; to improve the lives of people affected by PMS. Strengthened Family Support network by training Regional Representatives and encouraging regional meetings Goal 2: As the leading source of information about PMS, increase knowledge of the Syndrome and the PMS Foundation among stakeholders inside and outside the organization. Developing and communicating PMSF Strategic Plan that addresses all mission imperatives to stakeholders. Setting targets for participation by board members, families and other stakeholders in various aspects of the Foundation will help assure its success. Goal 3: Transition Foundation from a working board to a governance board Hired a full time Executive Director Provided board training on The Culture of Philanthropy Established a Directorship Committee comprised of board members reviewing by-laws, recruitment, committees, and strategic planning. Needs Statement PMSF is highly focused on research projects and increasing awareness of PMS worldwide. 1. PMSF needs a Chief Science Officer to head up our clinical research. This CSO would also be involved with continuing our research fellowships and conducting the symposiums which attract scientists internationally. Estimated at $ annually. 2. We need to expand our family support so we can make a greater impact in the everyday lives of those affected by PMS around the world. There is a need to strengthen regional supports, increase face-to-face gatherings and investing training and development of family support representatives. $55, We need to have a global impact on creating awareness not only of PMS, but also the needs of families with rare diseases. Developing relationships and partnerships in healthcare, legislative and industry will be important to our ability to achieve our goals. Communications, advocacy and networking activities are expected to cost $65,000 annually 4. We need to continue our global outreach with gatherings that will draw in international families and researchers to have a bigger impact that we are able to have now. Attendance at international gatherings, materials and accommodations would cost $5,000 annually. 5. We need to increase our staff capacity in the areas of administrative support and development. This would cost $45,000 annually. Background Statement Nearly 20 years ago, Dr. Katy Phelan and Dr. Curtis Rogers identified a 22q13 deletion during a chromosome analysis at Greenwood Genetics Center in Greenville, South Carolina in a newborn. At the same time, Dr. Heather McDermid from the University of Alberta, Canada was studying chromosome 22. Because of this research, over the next few years, seven children were identified with the same deletion and phenotype and the first articles about this genetic condition were written. Four years later, Drs. Phelan and Rogers utilized grant funds to bring together families from across rth America to study those affected by the chromosome defect as well as provide an opportunity for these families to meet. In 2002, the number of affected families reached 100 and the Board established a formal structure and a Foundation known as the 22q13 Deletion Syndrome 3
4 Foundation, which was renamed in 2010 as the Phelan-McDermid Syndrome Foundation in order to better reflect the organization s mission and range of diagnosis. Today, the PMS Foundation has grown in its' support for families and researchers alike internationally. The Foundation hosts a biennial conference allowing families and scientists the opportunity to come together and collaborate. It also provides funding support for vital research to link Phelan-McDermid Syndrome to autism, advocacy to identify other families around the world who are being impacted by the disorder and ultimately a haven where those in need of support can turn to for help. Currently, over 1700 individuals with PMS have been identified worldwide. However, it has been estimated that there may be as many as 8,000 individuals in the United States alone who have PMS. These individuals have gone undiagnosed due to lack of awareness and the costs of specialized testing needed to detect the syndrome. The PMS Foundation s mission is to improve the quality of life of people affected by Phelan-McDermid syndrome worldwide by providing family support, accelerating research and raising awareness. We strive to be an international alliance of science and support. The mission is fulfilled by the support of volunteers, 8 Board of Directors members, 2 Board Advisors, two full time and five part-time staff who provide avenues for advocacy, awareness, and research. Statement from the Board Chair PMSF is growing. In order to achieve our mission, the board has embarked on a foundation-wide strategic planning effort that includes goals, SMART objectives, output and measurable outcomes for each of our mission imperatives to address: the growth in membership, changes in technology, collaboration efforts worldwide. We are families who advocate, educate, and empower each other for all our children. Our families provide the inspiration to continue to pursue reasearch, drug development, patient-centered medicine and supports to help families cope with the day-to-day care of their child. We believe that the relationships we have fostered over the years are critical to our ability to meet our mission imperatives, so we plan to continue our outreach to families, the public, foundations, corporations, clinicians and researchers. Statement from the CEO/Executive Director PMSF was founded and created by a group of determined parents who created a vital support community and grew that into an organization that is the primary resource for families across the world impacted by PMS, for genetic data so key to research in the autism and PMS community, and is an integral voice at NIH, Global Genes, NORD, and other national entities in the rare disease community. Their reach is national, but the root of this organization has its home in Sarasota, where the first fundraising effort, Sammy's Run in 2009 made Phelan-McDermid Syndrome a familiar name in the local community. Our founder continues to advocate for all children with special needs and was integral in having PMS recognized by the Agency for Persons with Disabilities in Florida to assist families with accessing services promptly. The foundation is small but mighty. As we transition from a fully parent fueled organization and begin to add staff to focus on operations so that the board can focus on governance and fundraising, we have new resources that will enable us to educate and participate in a deeper and more meaningful way in the local community. While PMS is a rare disease, the phenotype overlaps with other conditions in the intellectual disability community and the genotype offers valuable information to researchers exploring autism and other aspects of the syndrome that affect many. We have the feeling of a local organization with a reach that crosses the continents. Areas Served FL- Sarasota National Internationally 4
5 Headquarters are based in Venice, FL. We support several families in the Sarasota community and a growing number state wide. We are expanding our local presence in the autism community as over 80% of children with PMS also have a diagnosis of autism. We are expanding our local presence within the epilepsy community as 40% of children with PMS also have a diagnosis of epilepsy. We are also working collaboratively with other local rare disease organizations. Our executive director is a member of the Easter Seals of SW Florida Program Advisory Board, our founder is on the board of Venice Challenger Baseball. Our reach extends into the special needs community of Sarasota. Service Categories Primary Organization Type Secondary Organization Type Tertiary Organization Type Diseases Disorders & Medical Disciplines Medical Research Health Care 5
6 PROGRAMS Awareness Description Awareness is the common thread woven through all the PMSF programs. Our goal is to raise awareness of stakeholders by establishing partnerships within the medical, research, and corporate communities for their support in the advancement of research, clinical care and potentially drug development that would benefit individuals affected by PMS. PMSF is committed to providing information to help engage foundation partners, corporations and individuals to help them understand PMS and support PMSF in the delivery of its mission. Through a coordinated PMSF messaging plan including events, publications, a targeted social media plan (website, Facebook, Yahoo, Linked in, YouTube and Twitter), the Foundation disseminates information to stakeholders including the medical/research community, families, supporters and the general public. Budget $62, Category Program Linked to Organizational Strategy Population Served Short Term Success Long Term Success Program Success Monitoring Program Success Examples Human Services, General/Other Information & Referral Families Children and Youth (0-19 years) Adults Families will become more aware of therapies and resources available including support from other families affected by PMS. We have raised awareness as evidenced by our growing membership both national and international as PMS is becoming more widely known in the medical and research communities. We gather data from the following sources: social media, surveys, international registry. Increased attendance at biennial family conference, member participation in our international registry, increased involvement within the scientific community and increased membership. 6
7 Family Support Description Through a network of Regional Representatives, 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. Our network serves to keep families in contact 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 and regional events. Budget $36, Category Program Linked to Organizational Strategy Population Served Short Term Success Long Term Success Program Success Monitoring Program Success Examples Human Services, General/Other Family-Based Services People/Families with People of Developmental Disabilities Adults Children and Youth (0-19 years) At the end of every biennial family conference, we want to have provided education, support, connections and encouragement to all attendees including: all families, extended family members, researchers, and medical doctors. The ultimate change resulting from this program is helping the family of a child or infant, newly diagnosed with PMS, to accept and thrive as a family unit with the information and support received from our foundation. We would value all successes, big or small, achieved in the lifetime of a child with PMS and their family, encouraging others and helping in the practical day to day life of a child with PMS. Written surveys from parents, social media websites. Attendance at our family conferences is up 60% from the first year held. We also have increased data provided by our families in the International Registry and a very active Facebook page for our parents. 7
8 Research Description Chartered in 2010, the PMSF Research Committee (RSC) 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 RSC reaches out to the research 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. Budget $843, Category Program Linked to Organizational Strategy Population Served Short Term Success Human Services, General/Other Information & Referral Families Children and Youth (0-19 years) Adults Establishing the PMSF fellowship Program to develop expertise in PMS research through a two-year involvement in a research project of potential significance. Increase research awareness by publishing Clinical Care Guidelines for clinicians, educators, and families. Long Term Success International Registry: The Phelan-McDermid Syndrome International Registry does facilitate the collection of data from our membership and help to thoroughly characterize the PMS phenotype. The goal of the PMSIR is to offer the research community data that will facilitate translational efforts. The development of PMS clinical research consortium. The development of Centers of Excellence for PMS. Program Success Monitoring Recruitment of patients for registry participation and in clinical research studies including natural history studies. Determine number of patients uploading electronic health records. Using webinars, newsletters and social media for education. Utilizing surveys for participation and reviews. Program Success Examples Continuing to have successful research symposiums. Continued work with PCORI and assisting families in obtaining their electronic healthcare records. Grow and expand clincial research centers. The Board of Directors also awarded its firs-ever post-doctoral fellowship to Dr. Xiaomig Wang, M.D., ph.d., of Duke University. Dr. Wang will receive $100,000 over the next two years to conduct biochemical, synaptic and behavioral analysis of a new mutant mouse model that knocks out the entire Shank3 gene, mimicking Phelan-McDermid Syndrome in humans. Comments 8
9 Program Comments by Organization PMSF has embarked on a foundation-wide re-evaluation of strategies and re-allocation of resources to ensure human and financial resources are in place to deliver the mission imperatives in the future. The foundation is committed to measuring the impact of program outcomes. As the number of diagnoses increases, the need to serve families expands. It is challenging and, at the same time, very exciting as we see our foundation growing worldwide. These opportunities will spur the foundation to continue to render real assistance to children and adults with PMS, research and increased awareness and hope and compassion for our global families. We have a great deal of work ahead which is certainly rewarding and we hope those reading about Phelan- McDermid Syndrome Foundation here for the first time will endeavor to assist us financially as we look forward to helping these children and families in meaningful ways in the future. Through a contract with the Patient- Centered Outcome Research Institute(PCORI), PMSF has propelled itself into the network of patients with rare diseases who are influencing person care. PMSF has succeeded in expanding the patient registry through patient outreach contacting many patients with PMS to collect important clinical data to further research not only for PMS but other rare diseases. 9
10 MANAGEMENT CEO/Executive Director CEO/Executive Director Ronni Blumenthal CEO Term Start Jan 2018 CEO Experience Ronni has been working in the autism and intellectual disability community since She is the former CEO of Greystone Programs, Inc. in the Hudson Valley area of New York. Greystone provides residential, clinical, recreational, vocational, and educational supports in a five county area. Ronni has served on a number of boards, continues her membership on the Easter Seals of SW Florida Program Advisory Committee, and brings a decade of HR experience to the position. Senior Staff Priscilla Hackstadt Finance Director Diane Linnehan Program Director Staff & Volunteer Statistics Full Time Staff 2 Part Time Staff 5 Staff Retention Rate % 100 Professional Development Contractors 1 Volunteers 40 Management Reports to Board CEO/Executive Director Formal Evaluation Senior Management Formal Evaluation nmanagement Formal Evaluation Collaborations Seaver Autism Center in New York s Mount Sinai School of Medicine, Duke University, Autism Science Foundation, Angelman Syndrome Foundation, Rett Syndrome, Genetic Alliance, Prader-Willi Syndrome, Autism Speaks, Global Genes, National Institutes of Health(NIH), NINDS, National Organizations of Rare Diseases (NORD), Stanford University, Patient-Centered Outcomes Research Institute(PCORI), Harvard Medical School Center for Biomedical Informatics, The Mighty, Boston Children's Hospital, Rare Diseases Clinical Research Network (RDCRN). Comments Management Comments by Organization 10
11 We have hired two full time staff this year; a full time executive director and a full time registry coordinator. These are our first full time staff members who were not formerly volunteers and who are not PMS family members. We are revising our committee structures and starting to identify the operational work of the foundation which is to be carried out under the direction of the ED, versus the governance responsibilities of the board. 11
12 GOVERNANCE Board Chair Board Chair Susan Lomas Company Affiliation Community Volunteer Board Term July 2002 to Dec 2020 Board Chair Board Members Name Affiliation Status Nick Assendelft PMSF Board Vice-President Voting Geraldine Bliss Community Volunteer Voting Mary Cobb Community Volunteer Voting Veronica Frunzi PMSF Secretary Voting Christopher Jauch Crescent Grove Advisors, LLC Voting Abby Lievense Lagunoff Community Volunteer Voting Susan Lomas PMSF Board President Voting Joseph Sammartino Sammartino Law Voting Board Demographics - Ethnicity African American/Black 0 Asian American/Pacific Islander 0 Caucasian 9 Hispanic/Latino 0 Native American/American Indian 0 Other 0 0 Board Demographics - Gender Male 3 Female 6 t Specified 0 Governance Board Term Lengths 3 Board Term Limits 99 Board Orientation Number of Full Board Meetings Annually 12 Board Meeting Attendance % 89 Board Self-Evaluation 12
13 Written Board Selection Criteria Percentage of Board Making Monetary Contributions 100 Percentage of Board Making In-Kind Contributions 100 Constituency Includes Client Representation Standing Committees Scientific Advisory Communications / Promotion / Publicity / Public Relations Development / Fund Development / Fund Raising / Grant Writing / Major Gifts Finance Board Development / Board Orientation Legislative Program / Program Planning Comments Governance Comments by Organization Presently, most, but not all of those serving on our board have a child, grandchild or other familial connection to a child with PMS. This gives our board a clear view of the challenges which face our families every day while helping to expand our outreach to individuals with industry experience who bring a unique perspective and outside connections. We have increased the number of members on our board to continue to serve our expanding population worldwide. We continue to have the support from our founders, Dr. Katy Phelan and Dr. Curtis Rogers as honorary board members. 13
14 FINANCIALS Current Financial Info Tax Year Begins 2017 Tax Year Ends 2017 Projected Revenue $1,118, Projected Expenses $1,272, Total Projected Revenue includes "in-kind" contributions/ donations Endowment Value $0.00 Spending Policy Percentage 0 Tax Credits Capital Campaign In a Capital Campaign Campaign Goal 0 IRS Form 990s PMSF 990 Form 990 (part 1) Form 990 (part 2) Form 990 Audit/Financial Documents Statement of Financial Position Statement of Financial Activity Audit comparative 2014 & 2015 Audit Financial Statements Phelan McDermid Audit Solvency Short Term Solvency Fiscal Year Current Ratio: Current Assets/Current Liabilities
15 Long Term Solvency Fiscal Year Long-Term Liabilities/Total Assets 0% 0% 0% Historical Financial Review Revenue and Expenses Fiscal Year Total Revenue $1,277,934 $1,137,997 $911,724 Total Expenses $1,051,920 $925,135 $862,908 Revenue Sources Fiscal Year Foundation and Corporation $0 $258,770 $0 Contributions Government Contributions $0 $0 $0 Federal $0 $0 $0 State $0 $0 $0 Local $0 $0 $0 Unspecified $0 $0 $0 Individual Contributions $580,547 $187,880 $451,816 Indirect Public Support $0 $0 $0 Earned Revenue $682,299 $692,245 $454,054 Investment Income, Net of Losses $2,564 ($898) $2,912 Membership Dues $0 $0 $0 Special Events $0 $0 $4,914 Revenue In-Kind $0 $12,217 $4,248 Other $12,524 $0 ($1,972) Expense Allocation Fiscal Year Program Expense $862,738 $757,067 $721,266 Administration Expense $154,325 $149,008 $117,537 Fundraising Expense $34,857 $19,060 $24,105 Payments to Affiliates $0 $0 $0 Total Revenue/Total Expenses Program Expense/Total Expenses 82% 82% 84% Fundraising Expense/Contributed Revenue 6% 4% 5% Assets and Liabilities Fiscal Year Total Assets $1,193,813 $1,047,572 $826,825 Current Assets $1,157,444 $1,012,396 $787,387 Long-Term Liabilities $0 $0 $1,353 Current Liabilities $203,369 $283,140 $273,902 Total Net Assets $990,444 $764,432 $551,570 Top Funding Sources 15
16 Fiscal Year Top Funding Source & Dollar Amount Program Service Contractual Income Contributions, gifts, Revenue $670,538 $682,065 grants $451,816 Second Highest Funding Source & Dollar Amount Third Highest Funding Source & Dollar Amount Contributions, gifts, grants $580,547 Miscellaneous $12,524 Foundation & Corporate Support $258,770 Contributions, gifts, grants $187,880 PCORI Contractual Income $375,328 Family Conference Registration Fees $57,858 Comments Financial Comments by Foundation Foundations and corporations are included with individual contributions as they are not separated in the 990 or audit. Financial figures were taken from the IRS Form 990. Audits are not available for FY 2010 and The value of in-kind contributions is included in income in the audited financial statements. Financial information for 2016 taken solely from the unaudited compilations as the Federal tax return was not available at time of review. 16
17 PLANS, POLICIES & LICENSES Plans Fundraising Plan Communication Plan Strategic Plan Management Succession Plan Continuity of Operations Plan Policies Organizational Policies and Procedures Written Conflict of Interest Policy ndiscrimination Policy Directors and Officers Insurance Policy Whistle Blower Policy Document Destruction Policy Affiliations Affiliation Year National Organization for Rare Disorders - Member 2003 Government Licenses Is your organization licensed by the Government? Planning & Policies Comments Planning & Policies Comments by Organization Planning & Policies Comments by Foundation Created Copyright
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