Our History

Established in 2002, the Phelan-McDermid Syndrome Foundation is the patient advocacy group for those living with Phelan-McDermid syndrome.

Timeline

1985 – Watt et al described a child with a recombinant chromosome 22 whose parent had an inversion of 22. The recombinant chromosome had a deletion of 22q13.

1988  – first report of a deletion of 22q13 with associated hypotonia described by Phelan and Rogers (and GGC group) Drs. Katy Phelan, Curtis Rogers and Robert Saul of the Greenwood Genetic Center in Greenwood, South Carolina, present information at the American Society of Human Genetics meeting about a case they identified where a patient was missing a portion of the long arm of chromosome 22

1992

1st Case Report Published 

This case study followed a child through three years of age including biochemical studies and molecular studies carried out by Drs. Katy Phelan and Heather McDermid. This publication gained the attention of parents of children with similar deletions who were curious about the affects on other children.

1998

1st Family Support Group Meeting Held

The 22Q13 Deletion Family Support Group met for the first time in Greenville, South Carolina where 20 of the 23 families known to be affected by 22q13 Deletion Syndrome attend. The Greenwood Genetic Center and The Mikel Foundation underwrite the meeting, which ultimately becomes the Phelan-McDermid Syndrome Foundation (PMSF) International Family Conference.  The first edition of the 22Q13 Deletion UPDATE quarterly newsletter is published.

2000

Biennial Family Conference Established

  • The 22Q13 Deletion Family Support Group meets for the second time in Columbia, South Carolina where more than 30 families attend. 
  • The conference is established as a biennial event, and membership approximately doubles throughout the year.

2002

Board Of Trustees Elected

  • Planning begins to establish the 22q13 Deletion Syndrome Foundation with the election of a Board of Trustees and the appointment of an Advisory Board.  Parents suggest naming the condition Phelan-McDermid Syndrome after Dr. Katy Phelan and researcher Heather McDermid.
  • The third family conference is held in Greenville where more than 40 families attend and membership surpasses the 100 mark. 
  • Families in the United Kingdom form a regional support group that meets for the first time.

2003

Achieve Non-Profit Status

  • The 22q13 Deletion Syndrome Foundation is federally recognized as a 501(c)(3) Non-Profit organization and the first Board meeting is held.
  • “Phelan-McDermid Syndrome (PMS)” is adopted as the moniker for “22q13 Deletion Syndrome”.

2004

Regional Representative Program Established

  • The Regional Representative Program is established to provide local support to families with PMS.
  • The fourth family conference is held in Greenville where 60 of the approximately 200 families affected by PMS attend.

2006

5th Family Conference Held

  • The fifth biennial family conference is held in Greenville where approximately 100 of the nearly 300 families affected by PMS attend of which 50 are first time attendees. 
  • The Board and volunteers take a lead role in planning and running the conference.

2008

Family Conference Goes International

  • The sixth biennial family conference is held in Greenville, marking its 10th anniversary while establishing it as an international conference. 
  • More than 110 families worldwide, totaling more than 450 people, attend the conference where a new logo is unveiled. 
  • The conference coincides with PMS Awareness Week in South Carolina along with 8 other states and Canada.

2010

First Research Strategic Plan Developed

  • The first strategic plan for science to advance PMS research is developed.
  • A new name and website are launched for the Foundation:  Phelan-McDermid Syndrome Foundation (PMSF).
  • The PMSF opens its first international headquarters in Venice, Florida.
  • The seventh biennial PMSF International Family Conference is held in Greenville where 110 of the approximately 600 families known to be affected by PMS attend.

2011

PMS International Registry Launched

  • The PMS International Registry (PMSIR) is launched.
  • The first PMS Symposium is held in New York City.

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2013

Global Partners Program Established

  • The Global Partners program is established, formalizing the affiliation of PMS groups in other countries with the PMSF. 
  • The PMSF organizes the Banbury meeting, bringing together scientists from around the world to address bottlenecks in PMS translational research.

2014

PMS International Registry Joins PCORNet

  • The PMS International Registry joins PCORNet, the National
    Patient-Centered Clinical Research Network, established by the
    Patient-Centered Outcomes Research Institute.
  • The third PMS Symposium is held in Washington, D.C. and the first Washington, D.C. PMS Awareness effort is organized in conjunction with Rare Disease Day.
  • The first Phelan Lucky shirt sale campaign is held to raise awareness of PMS.
  • A new PMSF logo is launched to reflect the worldwide network of stakeholders raising awareness, supporting families & accelerating research. 
  • The ninth biennial PMS International Family Conference is held in Orlando where more than 900 people from 13 countries attend.

2016

Fundraising Exceeds Expectations

  • The Phelan Lucky Campaign and Giving Challenge exceed Fundraising expectations.
  • The first PMSF informational video is released.
  • The tenth biennial PMSF International Family Conference is held in Orlando where 150 families from 10 countries attend and the first Phelan-McPosium is held in conjunction with the conference.

2018

First Executive Director Is Hired

  • First Executive Director and Registry Coordinator are hired
  • DSC Adult Natural History Study
  • The eleventh biennial PMSF International Family Conference is held

2019

Established Scientific and Medical Advisory Committees

  • Established Scientific Advisory Committee
  • Established Medical Advisory Committee
  • DSC Natural History Study
  • Regional REP Training
  • Boston Regional Conference

2020

First Board Of Directors Transition

  • First Board of Directors Transition
  • Biennial PMSF International Family Conference goes virtual
  • DSC Phase II Natural History Study
  • PMSF international membership exceeds 2500 individuals

2021

First Board Of Directors Transition

  • Covid Resoures
  • PMS Data Hub
  • New Website
  • Expand Science Partnerships
  • Added SAC members
  • Created webinar resources
  • Worked on Clinical Consensus Guides
  • Support Natural History Study
  • Create Reason for Being

 

2022

Hired Family Support Specialist

Virtual Conference

  • Strategic Plan for Science, Development, Family Support
  • Pharma Partnerships
  • ICD-10 application
  • CANDID Webinar,
  • PFDD meeting
  • In-person gatherings
  • Peer support training
  • Over 3100 members

20th Anniversary

PMSF founders, Curtis Rogers, MD, Katy Phelan, PhD, Susan Lomas, and Nick Assendelft, come together to celebrate the 20-year anniversary of the Phelan-McDermid Syndrome Foundation.

GROWTH. MOVEMENT. PROGRESS.

PHELAN-MCDERMID SYNDROME FOUNDATION

• 1st individual diagnosed with PMS

1989

• 1st Support Group meeting in Greenville, SC.  20 of the 23 known families meet

1998

• 2nd Support Group conference in Columbia, SC. Over 30 families attend

2000

• 3rd conference membership moves past the 100 mark and more than 40 families from around the word attend. • Board of directors established

2002

• 4th family conference (Greenville, SC) attended by 60 of the ~ 200 families affected by the syndrome • Establishment of regional representative program

2004

• 5th family conference (Greenville, SC) attended by 100 of the ~ 300 families affected by the syndrome. 50% of families were newcomers.

2006

• The 6th family conference (Greenville SC) attended by  450 people

2008

2010

• 1st PMSF symposium held in NYC • PMS International Registry launches

2011

• 8th family conference (Orlando Fl) attended by 700 individuals • Biosamples collected for PMS biorepository. • Established PMS within the Social Security Compassionate Allowances List

2012

• Banbury meeting addresses bottlenecks in PMS translational research

2013

• 1st board meeting held • Adoption of "Phelan-McDermid Syndrome" as a moniker for "22q13 deletion syndrome"

2003

• PMS International Registry joins PCORnet • 9th family conference (Orlando Fl) attended by 900+ from 13 countries • 3rd PMSF symposium held in Washington, DC

2014

• Developmental Synaptopathies Consortium launches • Patient travel program starts assisting families in the DSC • PMSF undertakes foundation-wide strategic plan

2015

2016

•  10th biennial family conference & Phelan-McPosium held in Orlando
• PhelanLucky campaign and Giving Challenge exceed Fundraising expectations

• The 22q13 Deletion Syndrome Foundation is  federally recognized as a 501(c)(3) non-profit organization.

•1st strategic plan for science developed to advance PMS research

• Global Partners Program established

2017

• A new name and website are launched for the Foundation: Phelan-McDermid Syndrome Foundation.

• PMSF opens 1st international headquarters in Venice FL

• 7th family conference (Greenville, SC) attended by 120 families  

2018

  • Hire Executive Director

  • DSC Adult Natural History Study

  • 11th Family Conference

  • Hire Registry Coordinator

2019

2020

  • Establish Scientific Advisory Committee

  • Establish Medical Advisory Committee

  • DSC Natural History Study

  • Regional REP Training

  • Boston Regional Conference

  • First Board of Directors Transition

  • 1st Virtual Family Conference

  • DSC PhaseII Natural History Study

  • Over 2500 PMS Individuals in International               membership

8 Sorrento Drive  |  Osprey, Florida 34229  |  www.pmsf.org  | info@pmsf.org |  (941) 485-8000

  • Research Landscape Analysis

  • Legislative Advocacy

  • Partnerships/Outreach

  • Stanford Symposium

  • UK Family Day

  • Hope Gala

  • AUS Conference

  • 2nd Brazil Family Meeting

2022

2021

  • Hired Family Support Specialist

  • Virtual Conference

  • Strategic Plan for Science, Development, Family Support

  • Pharma Partnerships

  • ICD-10 application

  • CANDID Webinar,

    PFDD meeting

  • In-person gatherings

  • Peer support training

  • Over 3100 members

  • Covid Resources

  • PMS Data Hub

  • New Website

  • Expand Science Partnerships

  • Added SAC members

  • Created webinar resources

  • Worked on Clinical Consensus Guides

  • Support Natural History Study

  • Create Reason for Being

2023 & beyond

  • new board leadership

  • update & communicate strategic plan

  • further develop culture of philanthropy

  • expand mental health support capacity

  • expand communications capacity

  • operations planning

  • implement scientific & family support strategy

  • 2024 international conference