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

Leadership
CEO/Executive Director No Executive Director
Board Chair Susan Lomas
Board Chair Affiliation No Affiliation
General Info
Organization DBA
DBA
Supported Organization
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 2016
State Registration Yes Oct 2015
IRS Letter of Determination
View
Financial Summary
 
 
Projected Revenue $893,600.00
Projected Expenses $1,128,915.00
Other Documents
Impact Statement

Clinical Research Centers- 100 PMS patients will participate in clinical research studies from six centers across the U.S.  Studies will be conducted, data pooled, outcomes reported in medical literature.  This collaborative effort will accelerate research and help determine standard of care.

 
Patient-Centered Outcomes Research Initiative (PCORI) research contract extended.  PMSF received an additional $1.5 million in funding for continuing a research partnership with Harvard Medical School to integrate data from our patient registry and medical records to help researchers better understand PMS.
 
 
2014 International Conference was held in Orlando, FL. with 196 families from 14 countries and 22 researchers attending.  Over 800 people shared and learned and bonded with our mission; to improve the lives of people affected by PMS.  
 
2014 Research Symposium - Researchers from around the world gathered in Washington, D.C. to share and collaborate.  
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. We need language translations of communication material and our Web site. The cost is estimated at $5,000.

  3. We need to have an impact in statehouses and Congress where we can help to influence legislation and initiatives that will benefit our families and the research community. A retainer for a lobbyist in Congress would cost $30,000 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 1200 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, 10 Board of Directors members, and three full-time staff who provide avenues for advocacy, awareness, and research.
Areas Served
Areas Served
Area
Internationally
National
Service Categories
Primary Org Type Diseases Disorders & Medical Disciplines
Secondary Org Type Medical Research
Tertiary Org Type Health Care
Keywords
Genetic condition, family support and education, aggressive research, advocacy, genetic cause of autism
Statement from the Board Chair/Board President
Statement from the CEO/Executive Director
The last year has seen a great deal of growth in our Foundation as a result of improved public awareness and genetic testing availability worldwide.  Our European groups are increasing dramatically, especially in Spain, and are presenting new challenges as we work to improve communications with other countries and provide real assistance to those children with Phelan-McDermid Syndrome.  We are encouraged by the increased use of our Registry and the information provided to researchers and scientists.  Our families and donors have become truly "global" and we are excited and sometimes awe-struck by the task before us.  However, our first priority remains the children who have this syndrome and their families.  The symptoms of PMS vary in each child, just as every child is unique.  Phelan-McDermid Syndrome is now considered a genetic cause of Autism and the tremendous research in this field will certainly benefit those with PMS and we hope our own research will assist in the treatment of Autism as well.  It is a tremendous responsibility and privilege to endeavor to help our PMS families as they live their daily lives with large and small challenges affecting their children.  These challenges are shared by the entire family, as well as grandparents, aunts and uncles and certainly the siblings of a child with PMS.  We salute them all and hope to better serve them each day as we learn more about this syndrome. 
Programs
Description Awareness is the common thread woven through all the PMSF programs.  Our goal is to raise awareness and to reach out to the medical and research communities for their support in the advancement of research and clinical care that would benefit individuals affected by PMS.  PMSF is committed to providing information to help people understand PMS.  Through the use of events, publications, website, Facebook, Yahoo and Twitter, the Foundation disseminates information beyond families, creating a global community with funders, physicians, and researchers.
Budget $15,850
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, written 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.
Description
Our Foundation 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 have their own special needs.  It's the need to have the emotional support of 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.  This effort promotes interaction in many ways including a biennial family conference, monthly newsletters, a website, social networking and regional events.
Budget $105,300
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 2006, 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 $314,500
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.
 
Comments
Program Comments by Organization
A distinctive challenge we are facing presently is communications with other countries and different languages.  We are in the process of learning to correspond with other cultures in ways which are respectful and intelligible for each country.  It is challenging and, at the same time, very exciting as we see our foundation growing worldwide.  These  opportunities will spur us on to continue to render real assistance to our children 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 in meaningful ways in the future.  PMSF is very excited to begin working with PCORI on a new grant issued in December, 2013.  This grant will enable us to expand and modernize our registry, while contacting many patients with PMS to collect important clinical data to further research not only for PMS but other rare diseases. 
Program Comments by Foundation
CEO/Executive Director
CEO/Executive Director No Executive Director
CEO Term Start 0
CEO/Executive Director Email n/a
Former CEOs/Executive Directors
NameTerm
Senior Staff
NameTitle
Cheryl Herbold Business Manager
Staff & Volunteer Statistics
Full Time Staff 1
Part Time Staff 0
Staff Retention Rate % 75
Professional Development Yes
Contractors 1
Volunteers 40
Management Reports to Board Yes
CEO/Executive Director Formal Evaluation N/A
Senior Management Formal Evaluation Yes
Non-Management Formal Evaluation Yes
Collaborations
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, National Institutes of Health, National Organizations of Rare Diseases (NORD), Stanford University, Harvard Medical School Center for Biomedical Informatics.
Affiliations
AffiliationYear
External Assessments and Accreditations
Assessment/AccreditationYear
Awards & Recognition
Award/RecognitionOrganizationYear
Risk Management Provisions
Government Licenses
Organization Licensed by the Government No
Plans
Fundraising Plan No
Communication Plan No
Strategic Plan No
Strategic Plan Years N/A
Strategic Plan Adopted 0
Management Succession Plan No
Policies and Procedures No
Continuity of Operations Plan No
Policies
Nondiscrimination Policy Yes
Whistle Blower Policy No
Document Destruction Policy Yes
Directors and Officers Insurance Policy No
Comments
Management Comments by Organization
Management Comments by Foundation
Board Chair
Board Chair Susan Lomas
Company Affiliation No Affiliation
Board Term July 2002 to Dec 2015
Board Chair Email sue.lomas@pmsf.org
Board Members
Board Members
NameAffiliation
Nick Assendelft PMSF Board Vice-President
Mary Cobb Community Volunteer
Van Daughtry Community Volunteer
Veronica Frunzi PMSF Secretary
Stephanie Leclerc Community Volunteer
Susan Lomas PMSF Board President
Patty O'Boyle Community Volunteer/Treasurer
Dr. Katy Phelan Director of Cytogenetics laboratory and Associate Professor of Pediatrics at Tulane University School of Medicine, New Orleans, LA.
Dr. Curtis Rogers Senior Clinical Genetist Greenwood Genetic Center
Brian Stack Community Volunteer
Student serving on the board through Community Youth Development? No
Board Demographics - Ethnicity
African American/Black 0
Asian American/Pacific Islander 0
Caucasian 10
Hispanic/Latino 0
Native American/American Indian 0
Other 0 0
Board Demographics - Gender
Male 4
Female 6
Unspecified 0
Governance
Board Term Lengths 3
Board Term Limits 5
Board Orientation Yes
Number of Full Board Meetings Annually 15
Board Meeting Attendance % 87
Board Self-Evaluation No
Written Board Selection Criteria No
Written Conflict of Interest Policy Yes
% of Board Making Monetary Contributions 100
% of Board Making In-Kind Contributions 100
Constituency Includes Client Representation Yes
Standing Committees
Scientific Advisory
Membership
Communications / Promotion / Publicity / Public Relations
Development / Fund Development / Fund Raising / Grant Writing / Major Gifts
Special Events (Golf Tournament, Walk / Run, Silent Auction, Dinner / Gala)
Technology
Finance
Comments
Governance Comments by Organization
Presently, most 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.  We have increased the number of members on our board this year and hope to continue to serve our expanding population worldwide.
Governance Comments by Foundation
Fiscal Year Projections
Fiscal Year Begins 2015
Fiscal Year Ends 2015
Projected Revenue $893,600.00
Projected Expenses $1,128,915.00
Endowment Value
Endowment Spending Policy
Endowment Spending Policy %
Capital Campaign
In a Capital Campaign No
Campaign Purpose
Campaign Goal
Campaign Dates 0 to 0
Amount Raised To Date 0 as of 0
Capital Campaign Anticipated in Next 5 Years?
IRS Form 990s
Historical 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 Year201420132012
Foundation and
Corporation Contributions
$0$0$0
Government Contributions$0$0$0
Federal$0$0$0
State$0$0$0
Local$0$0$0
Unspecified$0$0$0
Individual Contributions$451,816$421,045$273,304
$0$0$0
$454,054$18,604$82,614
Investment Income, Net of Losses$940$2,786$3,107
Membership Dues$0$0$0
Special Events$0$8,558$21,506
Revenue In-Kind$4,248$18,711$34,146
Other$0$1,391$1,266
Expense Allocation
Fiscal Year201420132012
Program Expense$721,266$158,351$302,699
Administration Expense$117,537$93,843$75,530
Fundraising Expense$24,105$32,288$31,596
Payments to Affiliates$0$0$0
Total Revenue/Total Expenses1.061.590.93
Program Expense/Total Expenses84%56%74%
Fundraising Expense/Contributed Revenue5%8%11%
Assets and Liabilities
Fiscal Year201420132012
Total Assets$826,825$562,228$423,996
Current Assets$787,387$555,142$388,690
Long-Term Liabilities$1,353$0$4,423
Current Liabilities$273,901$59,474$84,721
Total Net Assets$551,570$502,754$334,852
Top Funding Sources
Fiscal Year201420132012
Top Funding Source & Dollar AmountContributions, gifts, grants $451,816Contributions, gifts, grants $421,045Contributions, gifts, grants $273,304
Second Highest Funding Source & Dollar AmountPCORI Contractual Income $375,328Program Service Revenue $18,604Family Conference Fees $69,738
Third Highest Funding Source & Dollar AmountFamily Conference Registration Fees $57,858Fundraising $8,558Fundraising $21,506
CEO/Executive Director Compensation
Co-CEO/Executive Director Compensation
Tax Credits No
Solvency
Short Term Solvency
Fiscal Year201420132012
Current Ratio: Current Assets/Current Liabilities2.879.334.59
Long Term Solvency
Fiscal Year201420132012
Long-Term Liabilities/Total Assets0%0%1%
Financials Comments
Financial Comments by Organization
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.
Nonprofit Phelan McDermid Syndrome Foundation
Address 200 Capri Isles Blvd.
Suite 7F
Venice, FL 342925350
Primary Phone 941 485-8000
Email Sue@pmsf.org

Related Information

Spirit of Manatee

The Spirit of Manatee, an awards event held each February since 2006, publicly recognizes individuals and organizations for their philanthropic spirit and commitment to building a community legacy in Manatee County.


THE COMMUNITY FOUNDATION OF SARASOTA COUNTY, INC. IS A REGISTERED 501(C)(3) NON-PROFIT CORPORATION. A COPY OF THE OFFICIAL REGISTRATION AND FINANCIAL INFORMATION MAY BE OBTAINED FROM THE DIVISION OF CONSUMER SERVICES BY CALLING TOLL-FREE WITHIN THE STATE (1-800-HELP-FLA) OR FROM THE WEBSITE: WWW.FRESHFROMFLORIDA.COM. REGISTRATION DOES NOT IMPLY ENDORSEMENT, APPROVAL, OR RECOMMENDATION BY THE STATE. ONE HUNDRED PERCENT (100%) OF EACH CONTRIBUTION IS RECEIVED BY THE COMMUNITY FOUNDATION OF SARASOTA COUNTY. REGISTRATION #SC-02471.