2025-03-13T12:50:32-07:00 2024-12-31 990 2024-01-01 043673104 PHELAN MCDERMID SYNDROME FOUNDATION PHEL 9414858000 8 Sorrento Drive Osprey FL 34229 Rhonda Blumenthal Chief Executive Officer 7703109572 2025-03-13 1 2024 2025-03-06 01:10:19Z Rhonda Blumenthal 8 Sorrento Drive Osprey FL 34229 1306884 0 X pmsf.org X 2002 FL The mission of the Phelan-McDermid Syndrome Foundation is to make today better and the future brighter for everyone living with Phelan-McDermid syndrome - from the moment of diagnosis to the delivery of treatments and cures. 9 9 15 50 0 0 834914 1084905 110073 67727 14095 44888 103679 109364 1062761 1306884 222500 326392 0 0 521790 574741 0 0 146281 354529 536431 1098819 1437564 -36058 -130680 2243009 2109869 216181 210527 2026828 1899342 The mission of the Phelan-McDermid Syndrome Foundation is to make today better and the future brighter for everyone living with Phelan-McDermid syndrome - from the moment of diagnosis to the delivery of treatments and cures. 0 0 438631 63012 CONNECT program (formerly Family Support): The first priority of the organization is to connect with families from diagnosis through their life journey by creating the services and supports identified by families that strengthen their ability to navigate supporting their family member with Phelan-McDermid syndrome, as well as to gain knowledge and skills from their peers and organization resources. This includes specific programs to integrate mental health, social, and emotional wellbeing into support services, building connections through regional and international gatherings (including the biennial conference), and expanding and disseminating a library of online and print resources. 170036 0 CARE program: The organization is committed to recruiting, educating, and ensuring a robust network of physicians and clinicians (who are familiar with and educated about the unique aspects of the multidisciplinary care needs involved with Phelan-McDermid syndrome) are available to families. The organization continues to create and provide multimedia materials to enhance understanding and educate healthcare professionals. To strengthen an expert clinical network for Phelan McDermid syndrome, the organization works to 1)share and discuss research and medical findings, exchange information and insights about the lived experience 2)promote better coordination of care through evidence-based information and translate research and innovation into clinical care 3) raise awareness with healthcare professionals and families to ensure patients get the right diagnosis faster and connect to the available information and resources 4)build a medical expertise network to enhance the quality and coordination of care. 499657 326392 4715 CURE program (formerly research support): The organization works to facilitate research and data collection to advance treatments and cures by 1) centering patients and their families in conversations about external research studies and organization funding programs 2) attracting clinical studies and preparing families to participate in those studies 3) enabling coordinated and collaborative research and data collection to facilitate the monitoring and cross cutting knowledge of rare disorders which informs care management, treatments and health system planning 4) targeting increased participation in the PMSF DataHub which in turn can be marketed to science, research, and pharmaceutical companies. 0 0 0 1108324 1 1 0 1 0 0 0 0 0 1 1 0 0 0 0 0 1 0 0 0 0 1 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 12 0 1 15 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 X 9 9 0 0 0 0 0 0 0 1 1 0 0 1 1 1 1 1 1 1 1 0 AK AL AR CA CO CT FL GA IL KS KY MA MD ME MI MN MO MS NC ND NH NJ NM NV NY OH OK OR PA RI SC TN UT VA WA WI WV X Priscilla Hackstadt 9414858000 8 Sorrento Drive Osprey FL 34229 Rhonda Blumenthal Chief Executive Officer 40 0 X X 122244 0 3809 Denise Croden President 5 0 X X 0 0 0 Ben Holocher Vice President 5 0 X X 0 0 0 Lisa Brown Secretary 5 0 X X 0 0 0 Michael Cento Treasurer 5 0 X X 0 0 0 Catherine Valcourt-Pearce Director 5 0 X 0 0 0 Chardell Buchanan Director 5 0 X 0 0 0 Eden Rivera Director 5 0 X 0 0 0 Dr Lori Levi Director 5 0 X 0 0 0 Heidi Grabenstatter PhD Director 5 0 X 0 0 0 122244 0 3809 1 0 0 0 0 0 0 41575 0 30702 1012628 0 1084905 Family conference fees 813212 51508 51508 0 0 Conference store sales 813212 11503 11503 0 0 Travel reimbursement program 813212 4716 4716 0 0 0 0 0 0 67727 44888 44888 0 0 0 0 0 0 0 0 0 0 0 0 0 0 109364 41575 0 109364 0 109364 0 1306884 112615 0 109364 271392 271392 55000 55000 123411 74047 37023 12341 397379 240202 84487 72690 12287 6704 3679 1904 689 0 689 40975 24966 9340 6669 562 562 141826 105917 11159 24750 7520 165 140 7215 22093 2527 6045 13521 41838 24296 11033 6509 8100 8100 53682 50156 3366 160 252064 251952 112 6749 6749 1997 1000 587 410 1437564 1108324 182959 146281 1610427 1452626 5520 73450 59184 12720 13017 13017 0 0 567878 571073 2243009 2109869 60620 19270 155000 190696 561 561 216181 210527 X 2025504 1894920 1324 4422 2026828 1899342 2243009 2109869 -130680 3194 0 0 0 0 X 0 1 X 1 0 X 471225 758981 744192 834914 1084905 3894217 471225 758981 744192 834914 1084905 3894217 504750 3389467 886 123 -8775 14095 44888 51217 88089 137898 118231 213752 177091 735061 4680495 0.72417 0.69855 X Schedule A, Part II, Line 10 Net income from fundraising events and program income from agreements, contracts, and family conference RESTRICTED RESTRICTED RESTRICTED RESTRICTED RESTRICTED RESTRICTED RESTRICTED RESTRICTED 0 0 0 1108325 1108325 185833 46458 0 0 50817 87861 146139 185833 470650 705975 0 0 0 0 0 12704 21990 36535 46458 117687 176531 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 37367 0 -1592 35693 0 82 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 13017 13017 0 0 0 0 0 0 1310078 3194 0 0 0 3194 1306884 0 0 0 1306884 1437564 0 0 0 0 0 1437564 0 0 0 1437564 Schedule D, Part V, Line 4 The organization is using the quasi-endowment funds liquidated in 2020 in specific program initiatives. Europe (including Iceland and Greenland) To support a better understanding of the interaction between the SHANK3 gene and the HNRNPK gene. Many individuals with Phelan McDermid syndrome either have only one copy of the SHANK3 gene or have an identified mutation in their second copy of the gene, impacting the formation and function of neuronal synapses. Supported research study hopes to better understand the interaction between these two genes and assess the novel role of SHANK3 in the nucleus as well as to provide valuable insights and offer new directions for potential therapies that go beyond the role of SHANK3 at the synapse. 55000 Wire transfer See part V FMV 1 0 0 0 0 0 0 0 Phelan Lucky 146292 41575 104717 0 0 0 0 0 0 0 0 146292 41575 104717 0 0 0 0 0 0 0 104717 1 Boston Children's Hospital Children's Hospital Corporation 300 Longwood Avenue Boston MA 02115 042774441 501(c)(3) 116392 FMV To support the conclusion of the second phase of the Developmental Synaptopathies Consortium's Phelan-McDermid syndrome natural history study, including Boston Children's Hospital personnel costs and subawards to Icahn Mount Sinai Medical Center and Rush University for personnel costs as well. Northeastern University 360 Huntington Avenue Boston MA 02115 041679980 501(c)(3) 55000 FMV To support a project seeking to expand a new natural communication sampling protocol called ROSCO (Rapid Online Sample of Communication). ROSCO is designed to elicit meaningful samples of communication from individuals with Phelan McDermid syndrome via online-video platforms like Zoom in approximately 15 minutes. This study will validate the ROSCO paradigm with the Phelan McDermid syndrome population longitudinally, using repeated samples to establish reliability and sensitivity to communication change over time. Seaver Autism Center Icahn School of Medicine at Mount Sinai 1 Gustave L Levy Place Box 1230 New York NY 10029 136171197 501(c)(3) 100000 FMV To fund the further development of the Phelan-McDermid syndrome Inventory for Psychiatric Symptoms (PIPS) tool, to better support individuals with Phelan McDermid syndrome and their caregivers with managing and intervening in neuropsychiatric episodes experienced by these individuals. 3 0 Schedule I, Part I, Line 2 The organization has a chief science officer and scientific advisory committee that review all grant requests and grant contract awards. The deliverables and expectations set forth in the executed awards may vary according to the size and circumstances of the grant contract. All funds must be used for the benefit or programs that support individuals with Phelan-McDermid syndrome and their families. Form 990, Part VI, Section B, Line 11b Form 990 and any required supplemental schedules are reviewed in draft form by the finance committee. Finance committee approves and recommends that the board accept the draft of the 990. Board members are provided a draft of the 990 and allowed one week to comment, request changes, and ask questions, after which time the 990 is filed electronically. Form 990, Part VI, Section B, Line 12c Board members, committee chairs, and other key volunteers and employees are required to sign an annual statement acknowledging they have received a written conflict of interest policy and are in compliance with the policy. Form 990, Part VI, Section B, Line 15 Board determines compensation of Chief Executive Officer as part of annual budgeting process for entire organization. Salary of CEO falls within range that would be considered reasonable, given comparability data of other similar organizations. Board president performs annual review of CEO. Note that independent review and approval as well as comparability data in board minutes whenever a salary change is made. CEO determines compensation of other key staff as part of annual budgeting process for entire organization. Salary of these staff fall within the range that would be considered reasonable given comparability data of other similar organizations. Form 990, Part VI, Section C, Line 19 The organization makes its audited financial statements and form 990s available on its website. Other documents are made available upon request.