Our History

Established in 2002, the Phelan-McDermid Syndrome Foundation is the leading source worldwide for information about the rare genetic condition. But it was events more than 10 years before that which set us on the course we’re on today. We offer support families around the world, advocate for our cause and encourage research that one day may lead to therapies or effective drugs to treat those with PMS. A look back at how we got to where we are today:

1988

Drs. Katy Phelan, Curtis Rogers and Robert Saul of the Greenwood Genetic Center in Greenwood, South Carolina, present information at the Society of Human Genetics meeting about a case they had identified where a patient was missing a portion of the long arm of chromosome 22.

1992

Phelan, Rogers and Saul publish paper in the American Journal of Medical Genetics describing the 22q13 deletion case they had been tracking. Phelan, a cytogeneticist, begins tracking 15 families affected by the chromosomal deletion.

First conference

Families gather for a group photo at the end of the first Support Group meeting in Greenville, South Carolina, in 1998. Twenty of the 23 families known at the time attended the meeting.

1998

First Family Support Group meeting in Greenville. Twenty of the 23 families who were known at the time to have children with 22q13 Deletion Syndrome attend. The Greenwood Genetic Center and The Mikel Foundation, a South Carolina charitable group interested in helping families with special needs children, underwrite the meeting.

First edition of the 22Q13 Deletion UPDATE quarterly newsletter published.

2000

Second Support Group conference in Columbia, South Carolina. More than 30 families attend and Support Group membership roughly doubles.

2001

A Yahoo message group is set up so parents can keep in touch between meetings.

Web site launches and a logo is designed.

2002

More than 40 families attend the third conference as it moves back to Greenville and membership moves past the 100 mark.

Families in the United Kingdom form a regional support group that meets for first time.

Planning begins on establishing the 22q13 Deletion Foundation with election of a Board of Trustees and appointment of an advisory board. Parents suggest naming the condition Phelan-McDermid Syndrome after Dr. Katy Phelan and researcher Heather McDermid of the University of Alberta.

2003

Foundation’s Board of Directors meets in the fall at the South Eastern Regional Genetic Group Conference in Charleston, South Carolina, to plan 2004 conference.

Board agrees Phelan-McDermid Syndrome name.

The Foundation is federally recognized as a 501(c)(3) non-profit organization.

2004

The fourth biennial conference is held in Greenville in July and is attended by 60 of the approximately 200 families affected by the syndrome. The Board of Directors approves publication of an informational brochure about Phelan-McDermid Syndrome to raise awareness as well as support fundraising efforts.

Establishment of the Regional Representative program, serving families around the world.

2005

Foundation directors meet in April in Tampa to plan for 2006 conference and meets again in November in Atlanta.

Revamped Web site launches with emphasis on new families looking for information on Phelan-McDermid Syndrome.

2006

About 100 families of the nearly 300 diagnosed individuals attend the fifth conference in Greenville. Board and volunteers take lead role in planning and running the conference.

Wartaweil, Germ. 2007

Wartaweil, Germany, outside Munich, was the location in 2007 for a gathering of families with children diagnosed with Phelan-McDermid Syndrome.

2007

Families in Germany affected by 22q13 diagnosis have their first mini-conference.

Board makes first allocation for research, earmarking $16,000 for projects.

2008

The sixth biennial conference in Greenville marks the 10th anniversary of the 22q13 Deletion Foundation Support Group. More than 110 families from around the world totaling more than 450 people attend. New Foundation logo was unveiled.

Conference coincides with Phelan-McDermid Syndrome Awareness Week in South Carolina, eight other states and Canada.

2009

Foundation launches social network sites Facebook and Twitter.

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The Phelan-McDermid Syndrome Foundation Board of Directors is recognized at the seventh biennial support group conference in Greenville, South Carolina.

2010

Seventh biennial conference is again held in Greenville, attended by 110 families of roughly 600 known cases.

International headquarters for Foundation opens in Venice, Florida.

Foundation is renamed the Phelan-McDermid Syndrome Foundation.

Foundation co-sponsors first mini science symposium in conjunction with the Children’s Hospital of Philadelphia / International Meeting for Autism Research in Philadelphia.

2011

First Phelan-McDermis Syndrome symposium held in New York City.

PMS International Registry launches.

2012

Eighth international family conference held for first time in Orlando, Florida, with 700 in attendance. Biosamples are collected for PMS biorepository.

Second scientific symposium organized by Research Committee.

Phelan-McDermid Syndrome approved for Social Security Compassionate Allowances list.

2013

Global Partners program established, setting up formal PMS groups in other countries and affiliating them with the Venice, Florida-based PMS Foundation.

Foundation organizes Banbury meeting, bringing together scientists from around the world to address bottlenecks in PMS translational research.

Dads session 2014

One of the more popular sessions at each conference is for dads only, giving them a chance to speak frankly about their concerns. Moms have a corresponding session just for them.

 2014

Ninth family conference, with more than 900 people from 13 countries attending in Orlando.

Third scientific symposium, this one held in Washington, D.C.

New logo launched to reflect the worldwide network of stakeholders, all working toward a common goal of raising awareness, supporting families and accelerating research.

PMS International Registry joins PCORNet, the National Patient-Centered Clinical Research Network, established by the Patient-Centered Outcomes Research Institute.

First Phelan Lucky shirt sale campaign to raise awareness of PMS.

First organized Washington, D.C., awareness effort in conjunction with Rare Disease Day

UK families 2015

The annual UK Family Day has grown larger each year and is now the second largest gathering of families affected by PMS. The event draws families from other European countries, as well.

2015

Developmental Synaptopathies Consortium launches, setting up framework for clinical care sites around the country.

Foundation officers travel to Europe for international meetings with families in the United Kingdom, Italy, Spain and France in conjunction with first UK Family Day.

Conference 2016

A superhero themed dance was one of the highlights of the 2016 international conference in Orlando, Florida, which attracted families from 10 countries.

2016

Tenth biennial family conference, again in Orlando, attracting 150 families from 10 countries.

First Phelan-McPosium in conjunction with the International Support Group conference.

Foundation’s first informational video released.

2017

New PMSF Web site launches.

PMSF UPDATE newsletter marks publication of 100th edition.

PMSF | Phelan-McDermid Syndrome Foundation