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 Barbara Cruz
Board Chair Susan Lomas
Board Chair Company Affiliation No Affiliation
History and Background
Former Names
22q13 Deletion Syndrome Foundation
Tax Exempt Status Public Supported Charity
Awarded a competitive grant from Community Foundation in the last 5 years? No
Incorporation Year 2003
Financial Summary
 
 
Projected Revenue $893,600.00
Projected Expenses $1,128,915.00
Additional Documents
IRS Letter of Determination
IRS Letter of Determination
State Info
State Charitable Solicitations Permit Yes May 2015
State Registration 0
Statements
Impact

PMSF launches international registry which purpose is  to consolidate information from individuals with Phelan-McDermid Syndrome (PMS) in to a single database, to be used by researchers to understand PMS better. PMSIR provides valuable information for researchers to decide the most important challenges to address for individuals with P-MS.

  

Foundation awards third research fellowship to Dr. Sally Kim of Stanford University who will conduct a two year study using a unique "stealth" probe technique. This new technology incorporates "artificial synapses" into cell membranes, while the stealth probes can record synaptic, neuronal and other properties of the neurons for days or weeks, allowing investigators to eavesdrop on multiple neurons at the same time.   
 
PMSF has partnered with Stanford University to complete a Biosample Project, begun in July 2012 at our conference.  Families were asked to voluntarily provide biosamples from their PMS child of blood and tissue.  The data obtained from this project will be included at our PMSIR which can be accessed by researchers as well as for use by Stanford University research projects.  
 
In December, 2013 PMSF was awarded a grant of $900,000.00 from Patient Center Outcomes Research Institute (PCORI) to enable PMSF to reach more PMS patients nationally to make meaningful, well annotated clinical data available to researchers and members of the PCORI network.  Using our registry, we will be better able to provide well researched data to researchers and clinicians who are not only studying PMS, but like syndromes, as well.  By combining our data with other rare disease disorders' data, we hope to be able to quicken therapies and pharmaceutical helps for P-MS patients.  We will be partnering with the Harvard Medical School and Boston Children's Medical Center for this project. 
Background

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 P-MS Foundation has grown from its research-based beginnings to  support 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 800 individuals with P-MS 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 P-MS. These individuals have gone undiagnosed due to lack of awareness and the specialized testing needed to detect the syndrome.

 

The P-MS Foundation’s mission is to build an international alliance and clinical support for those individuals diagnosed with Phelan-McDermid Syndrome and to provide families and professionals with an opportunity for scientific education and information exchange. 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.
Needs

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

  1. PMSF, an international foundation with a rapidly growing population abroad, greatly needs help with translations for our brochures for China and the Netherlands.  We also need real-time help with conference calls with foreign groups. In 2013 and 2014 we had large gatherings of families with a PMS child in France, Spain, England and Germany. Estimated budgetary need of $5000. 
  2. Presently, the Foundation has three full-time staff dedicated to day to day operations, leaving a funding potential that could be filled with a donor development specialist. Estimated cost $30000 to $45000 annually.
  3. 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.
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. 
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
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 P-MS.  PMSF is committed to providing information to help people understand P-MS.  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 community including but not limited to Autism Spectrum Disorder. 
How Program is Monitored We gather data from the following sources: social media, written surveys, international registry.
Examples of Program Success Increased attendance at biennial family conference, member paticipation in our international registry, increased involvement within the scientific community in regards to research.
Description
Our Foundation fosters family interaction through the philosophy that parents of children and adults with P-MS 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 hundred 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 of People with Disabilities Families Children and Youth (0 - 19 years)
Short Term Success
At the end of our biennial family conference in 2012, we expect to have  educated over 120 families and encouraged them to realize they are not alone and have access to other families through our social media, newsletters and fundraising events in their communities.
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.   
How Program is Monitored
Written surveys from parents, social media websites.
Examples of Program Success
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 P-MS by fostering sound genetic, biological, and medical research related to the cause, effects, diagnosis, and effective treatments of P-MS.  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 P-MS.
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 will 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.
 
Creating an exploratory taskforce to study how we can promote the development of PMS clinical research consortium.
 
 Formalizing an international taskforce to focus on the needs of our members outside of the United States.
How Program is Monitored Development of new therapies and improvements in existing therapies.  Written and online surveys will be used to measure results.
Examples of Program Success
The 1st International Phelan-McDermid Syndrome Symposium held at the New York Academy of Medicine which provided an open forum for researchers, clinicians, young investigators, and individuals with PMS, including children and their families to collaboratively plan for future research and translational applications.
 
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 P-MS to collect important clinical data to further research not only for P-MS but other rare diseases. 
CEO/Executive Director
Executive Director Barbara Cruz
CEO Term Start Feb 2012
Email barbara.cruz@pmsf.org
Experience
Barbara has worked in the non-profit field for most of her professional life.  She is a dedicated worker, accomplished in marketing and fundraising and will work tirelessly to make PMSF a global presence in the years to come.  Barbara is a skilled graphic designer and has excellent organizational abilities, which will enhance the day to day operations of the foundation.  She has hand picked her staff and stresses a team effort, which has enabled the office staff to work very competently together and accomplish the goals the Board has directed.  We are very fortunate to have someone of Barbara's quality working for our children and families.
Staff
Full Time Staff 3
Part Time Staff 0
Volunteers 40
Contractors 1
Staff Retention Rate % 66
Professional Development Yes
Management Reports to Board Yes
Organization 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
Senior Staff
NameTitle
Barbara Cruz Executive Director
Jennifer Harrison Administrative Assistatnt
Cheryl Herbold Business Manager
Jack Sweeney Communications/Membership Coordinator
Formal Evaluations
CEO Formal Evaluation Yes
Senior Management Formal Evaluation Yes
NonManagement 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.
Government Licenses
Is your organization licensed by the Government? No
Policies
Nondiscrimination Policy Yes
Whistle Blower Policy No
Document Destruction Policy Yes
Directors and Officers Insurance Policy No
Board Chair
Board Chair Susan Lomas
Company Affiliation No Affiliation
Board Term July 2002 to July 2014
Email sue.lomas@pmsf.org
Board Members
Board Members
NameAffiliation
Nick Assendelft PMSF Board Vice-President
Mary Cobb Community Volunteer
Van Daughtry Community Volunteer
Terri Dutts PMSF Director
Veronica Frunzi PMSF Secretary
Stephanie Leclerc Community Volunteer
Sue Lomas PMSF Board President
Patty O'Boyle Community Volunteer
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 11
Hispanic/Latino 0
Native American/American Indian 0
Other 0 0
Board Demographics - Gender
Male 4
Female 7
Unspecified 0
Governance
Board Term Lengths 3
Board Term Limits 5
Board Orientation Yes
Board Meeting Attendance % 90
Number of Full Board Meetings Annually 11
Board Self-Evaluation No
Written Board Selection Criteria No
Written Conflict of Interest Policy Yes
Percentage of Board Making Monetary Contributions 100
Percentage 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 has a child, grandchild or other familial connection to a child with P-MS.  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.
Financial Info
Fiscal Year 2014
Projected Revenue $893,600.00
Projected Expenses $1,128,915.00
Spending Policy N/A
IRS Form 990s
Audit/Financial Documents
Historical Financials
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 Year201320122011
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$421,045$273,304$286,283
$0$0$0
$18,604$82,614$9,697
Investment Income, Net of Losses$2,786$3,107$2,465
Membership Dues$0$0$0
Special Events$8,558$21,506$10,732
Revenue In-Kind$18,711$34,146$28,219
Other$1,391$1,266$0
Expense Allocation
Fiscal Year201320122011
Program Expense$158,351$302,699$254,840
Administration Expense$93,843$75,530$45,655
Fundraising Expense$32,288$31,596$65,627
Payments to Affiliates$0$0$0
Total Revenue/Total Expenses1.590.930.84
Program Expense/Total Expenses56%74%70%
Fundraising Expense/Contributed Revenue8%11%22%
Assets and Liabilities
Fiscal Year201320122011
Total Assets$562,228$423,996$420,902
Current Assets$555,142$388,690$420,902
Long-Term Liabilities$0$4,423$0
Current Liabilities$59,474$84,721$58,022
Total Net Assets$502,754$334,852$362,880
Top Funding Sources
Fiscal Year201320122011
Top Funding Source & Dollar AmountContributions, gifts, grants $421,045Contributions, gifts, grants $273,304Contributions, gifts, grants $286,283
Second Highest Funding Source & Dollar AmountProgram Service Revenue $18,604Family Conference Fees $69,738Fundraising $10,732
Third Highest Funding Source & Dollar AmountFundraising $8,558Fundraising $21,506Program service revenue $9,697
CEO Compensation
Co-CEO Compensation
Tax Credits No
Solvency
Short Term Solvency
Fiscal Year201320122011
Current Ratio: Current Assets/Current Liabilities9.334.597.25
Long Term Solvency
Fiscal Year201320122011
Long-Term Liabilities/Total Assets0%1%0%
Capital Campaign
Currently in a Capital Campaign? No
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.
Nonprofit Phelan McDermid Syndrome Foundation
Address 200 Capri Isles Blvd.
Suite 7F
Venice, FL 342925350
Primary Phone 941 485-8000
CEO/Executive Director Barbara Cruz
Board Chair Susan Lomas
Board Chair Company Affiliation No Affiliation
Year of Incorporation 2003
Former Names
22q13 Deletion Syndrome Foundation

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.