Phelan McDermid Syndrome Foundation
200 Capri Isles Blvd.
Suite 7F
Venice FL 34292-5350

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.

CEO/Executive Director Susan Lomas
Board Chair Susan Lomas
Board Chair Affiliation Community Volunteer
General Info
Former Names
22q13 Deletion Syndrome Foundation
Tax Exempt Status Public Supported Charity
Incorporation Year 2003
Awarded competitive grant from Community Foundation in the last 5 years? No
State Charitable Solicitations Permit Yes Mar 2018
State Registration Yes Mar 2018
Financial Summary
Note: Revenue includes the value of in-kind contributions/donations
IRS Letter of Determination
IRS Letter of DeterminationView
Impact Statement

Goal 2: 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, expecting 160 families from 14 countries and 22 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 3: 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.
Needs Statement

PMSF is highly focused on research projects and increasing awareness of PMS worldwide. 

  1. PMSF needs a Scientific Director to head up our clinical research.  This Director would also be involved with continuing our research fellowships and conducting the symposiums which attract scientists internationally. Estimated at $125000 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.  $55,000.
  3. 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.


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 North 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 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 1300 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 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, and three part-time staff who provide avenues for advocacy, awareness, and research.
Areas Served
Areas Served
FL- Sarasota
Areas Served Comments
Headquarters are based in Venice, FL
Service Categories
Primary Org Type Diseases Disorders & Medical Disciplines
Secondary Org Type Medical Research
Tertiary Org Type Health Care
Statement from the Board Chair/Board President
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.  
We embrace the challenges and advances before us and look forward to growing as an organization with the help of our supporters. 
Statement from the CEO/Executive Director
I wish we were strangers. But due to the collateral beauty of our lives, we are family. So, welcome to the window to our world. Our website, our conference, our foundation belongs to you. Our family is here to support you, educate you, involve you. We lift each other up, everyday. Strangers no more.
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 $62,400
Category Human Services, General/Other Information & Referral
Program Linked to Organizational Strategy Yes
Population Served Families Children and Youth (0 - 19 years) Adults
Short Term Success Families will become more aware of therapies and resources available including support from other families affected by PMS.
Long Term Success 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. 
Program Success Monitoring We gather data from the following sources: social media, surveys, international registry.
Program Success Examples Increased attendance at biennial family conference, member participation in our international registry, increased involvement within the scientific community and increased membership.
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 $36,100
Category Human Services, General/Other Family-Based Services
Program Linked to Organizational Strategy Yes
Population Served People/Families with People of Developmental Disabilities Adults Children and Youth (0 - 19 years)
Short Term Success
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.
Long Term Success
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.   
Program Success Monitoring
Written surveys from parents, social media websites.
Program Success Examples
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.
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 $843,400
Category Human Services, General/Other Information & Referral
Program Linked to Organizational Strategy Yes
Population Served Families Children and Youth (0 - 19 years) Adults
Short Term Success
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.
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.  New in 2016, PMSF commissioned a "Research Landscape" evaluation to provide information to guide the research strategy and to expand the PMSF Research Portfolio.  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. 
CEO/Executive Director
CEO/Executive Director Susan Lomas
CEO Term Start Jan 2017
CEO/Executive Director Email
Experience Susan is a founder and acting Executive Director of the foundation.  She has over 20 year executive management experience.
Former CEOs/Executive Directors
Senior Staff
Priscilla Hackstadt Finance Director
Diane Linnehan Program Director
Staff & Volunteer Statistics
Full Time Staff 0
Part Time Staff 5
Staff Retention Rate % N/A
Professional Development Yes
Contractors 0
Volunteers 40
Management Reports to Board Yes
CEO/Executive Director Formal Evaluation N/A
Senior Management Formal Evaluation Yes
Non-Management Formal Evaluation Yes
Oak Park School, Sarasota County, 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.
National Organization for Rare Disorders - Member2003
External Assessments and Accreditations
Risk Management Provisions
Government Licenses
Organization Licensed by the Government No
Fundraising Plan No
Communication Plan No
Strategic Plan No
Strategic Plan Years
Strategic Plan Adopted 0
Management Succession Plan No
Continuity of Operations Plan No
Nondiscrimination Policy Yes
Whistle Blower Policy No
Document Destruction Policy Yes
Directors and Officers Insurance Policy No
Policies and Procedures No
Multi-Media Comments by Organization
Our families depend on social media, especially Facebook, to maintain contact with each other and the Foundation.  Through the Facebook pages, our family members offer practical help and much needed support to one another and encouragement.  As staff, we use social media to offer information and to advise of upcoming events.  As we are a global foundation, we certainly depend on multi-media to touch our membership.
Board Chair
Board Chair Susan Lomas
Company Affiliation Community Volunteer
Board Term July 2002 to Dec 2020
Board Chair Email
Board Members
Board Members
Nick Assendelft PMSF Board Vice-President
Geraldine Bliss Community Volunteer
Mary Cobb Community Volunteer
Van Daughtry Community Volunteer
Veronica Frunzi PMSF Secretary
Abby Lievense Lagunoff Community Volunteer
Susan Lomas PMSF Board President
Patty O'Boyle Community Volunteer/Treasurer
Joseph Sammartino Sammartino Law
Constituency Includes Client Representation Yes
Board Ethnicity
African American/Black 0
Asian American/Pacific Islander 0
Caucasian 9
Hispanic/Latino 0
Native American/American Indian 0
Other 0 0
Board Gender
Male 3
Female 6
Unspecified 0
Board Term Lengths 3
Board Term Limits 99
Board Orientation Yes
Number of Full Board Meetings Annually 12
Board Meeting Attendance % 89
Board Self-Evaluation Yes
Written Board Selection Criteria Yes
Board Conflict of Interest Policy Yes
% of Board Making Monetary Contributions 100
% of Board Making In-Kind Contributions 100
Standing Committees
Scientific Advisory
Communications / Promotion / Publicity / Public Relations
Development / Fund Development / Fund Raising / Grant Writing / Major Gifts
Special Events (Golf Tournament, Walk / Run, Silent Auction, Dinner / Gala)
Board Development / Board Orientation
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.
Current Year Projections
Tax Year Start Month Jan
Tax Year Start Day 01
Tax Year Begins 2017
Tax Year End Month Dec
Tax Year End Day 31
Tax Year Ends 2017
Projected Revenue $1,118,700.00
Projected Expenses $1,272,300.00
Total Projected Revenue includes "in-kind" contributions/ donations No
Organization has Endowment No
Capital Campaign
Currently In a Capital Campaign No
Campaign Purpose
Campaign Goal
Amount Raised To Date 0 as of 0
IRS Form 990s
Financial Review
Revenue SourcesHelpThe financial analysis involves a comparison of the IRS Form 990 and the audit report (when available) and revenue sources may not sum to total based on reconciliation differences. Revenue from foundations and corporations may include individual contributions when not itemized separately.
Fiscal Year201620152014
Foundation and
Corporation Contributions
Government Contributions$0$0$0
Individual Contributions$580,547$187,880$451,816
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
Expense Allocation
Fiscal Year201620152014
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 Expenses1.211.231.06
Program Expense/Total Expenses82%82%84%
Fundraising Expense/Contributed Revenue6%4%5%
Assets and Liabilities
Fiscal Year201620152014
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
Fiscal Year201620152014
Top Funding Source & Dollar AmountProgram Service Revenue $670,538Contractual Income $682,065Contributions, gifts, grants $451,816
Second Highest Funding Source & Dollar AmountContributions, gifts, grants $580,547Foundation & Corporate Support $258,770PCORI Contractual Income $375,328
Third Highest Funding Source & Dollar AmountMiscellaneous $12,524Contributions, gifts, grants $187,880Family Conference Registration Fees $57,858
CEO/Executive Director Compensation $0 - $50,000
Tax Credits No
Short Term Solvency
Fiscal Year201620152014
Current Ratio: Current Assets/Current Liabilities5.693.582.87
Long Term Solvency
Fiscal Year201620152014
Long-Term Liabilities/Total Assets0%0%0%
Financials 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 2009.   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.
Nonprofit Phelan McDermid Syndrome Foundation
Address 200 Capri Isles Blvd.
Suite 7F
Venice, FL 34292 5350
Phone 941 485-8000