The families who have children diagnosed with Phelan-McDermid Syndrome/ 22q13 Deletion Syndrome have more in common than just having a child with a disability. The families of those affected by the syndrome have their own special needs. It’s the need to have the emotional support of other families that are going through the unique challenges every day. To date, the Phelan-McDermid Support Group has nearly 600 members worldwide. The closest connection isn't at our children's school, or on the next block. It could be hundreds, sometimes thousands of miles away. Despite that isolation, our group has accomplished much since we were first brought together. How far we’ve come:
- Dr. Katy Phelan brings the original group of families affected by 22q13 Deletion Syndrome together after she starts to identify families with children who are missing part of chromosome 22. It was her initial 15 “telephone buddies” who planted the seed that has grown to be the Phelan-McDermid Syndrome Foundation.
- First Support Group meeting in Greenville, SC. Twenty of the 23 families who were known at the time to have children with 22q13 Deletion Syndrome meet. The Greenwood Genetic Center, where Dr. Phelan worked as a cytogeneticist, and The Mikel Foundation, a charitable group interested in helping families with special needs children, underwrite the meeting.
- Out of the first conference came the 22Q13 Deletion UPDATE quarterly newsletter, family photo directory and the decision to meet biennially.
- Second Support Group conference in Columbia, SC. More than 30 families attend and Support Group membership roughly doubles.
- Membership, Fundraising, Communication and Research committees established. “We felt a need to claim ownership, mostly because we are here for life,” parent and Foundation President Sue Lomas says.
- A Yahoo message group is set up so parents can keep in touch between meetings.
- Informational Web site on Phelan-McDermid Syndrome launches. It sees major revisions in 2005 and 2010.
- Logo designed.
- Families in the United Kingdom form a regional support group that meets for first time in April 2002.
- By the third conference, membership moves past the 100 mark and more than 40 families attend, including ones from Brazil, England, Ireland and Canada. Members present workshops on self-determination, the Individual Education Plan, estate planning, communication and the federal Individuals with Disabilities Education Act.
- Planning begins on establishing the 22q13 Deletion Foundation. The Foundation has its first meeting on the last day of our 2002 conference where a Board of Directors is elected and an advisory board appointed.
- The Board of Directors of the Foundation meets in the fall at the South Eastern Regional Genetic Group Conference in Charleston, SC to plan 2004 conference.
- Board agrees to add a second name to our children's diagnosis: Phelan-McDermid Syndrome, in honor of the two researchers key to identifying the syndrome, Dr. Katy Phelan and Heather McDermid of the University of Alberta.
- In July, the Foundation is federally recognized as a 501(c)(3) non-profit organization.
- The fourth biennial conference is held in Greenville, SC in July and is attended by 60 of the approximately 200 families affected by the syndrome. As group grows and needs expand, the Board takes on a larger role in planning and running the conference.
- The Board of Directors approves development and publication of a brochure about Phelan-McDermid Syndrome to raise awareness as well as support fundraising efforts. The brochure is in its third update and printing in 2010.
- Board meets 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.
- Md7, Inc. donates $10,000 to Foundation, one of the largest contributions to date.
- Approximately 100 families of the nearly 300 diagnosed individuals attend the fifth conference in Greenville, SC. Half of the families were newcomers.
- Board and volunteers take lead role in planning and running the conference. More parents were recruited to participate as committee chairs and members.
- The 22q13 families in Australia have their first conference.
- Our 22q13 families in Germany have their first mini-conference.
- Cern Basher makes it to the top of Mt. Kilimanjaro on a ‘Do it for Dane’ climb to raise more than $34,000 for the Foundation.
- Flip Flops and Lemon Drops raises more than $41,000
- Grandma Runs for Ellie raises $23,000.
- Board allocates $16,000 for research projects. Among the allocations was $4,700 for the Foundation's attendance at the Society of Neuroscience Conference in San Diego.
- The Board sets up an endowment fund at the Gulf Coast Community Foundation in Venice, FL. Donors can designate their contributions to the general, endowment or research funds.
- The sixth biennial conference marks the 10th anniversary of the 22q13 Deletion Foundation Support Group. More than 110 families – including ones from Germany, Canada, Great Britain, Ireland and Italy -- totaling more than 450 people attend.
- The cost was just over $65,000. Foundation for the first time charges attendees a registration fee. The Foundation also provided, for the first time, financial aid to cover part of the costs for some families.
- Conference coincides with Phelan-McDermid Syndrome Awareness Week in South Carolina, eight other states and Canada.
- New Foundation logo was unveiled.
- Research kicks into high gear with Board members and families attending the Clinical Geneticists conference in Tampa in March, where a number of geneticists and genetic counselors said it was great to see our group represented.
- A number of families organized fundraisers to benefit the Foundation: Sammy’s 5K run raised $10,000, Flip Flops and Lemon Drops in Tampa raised $4,000, and a golf tournament in Dallas raised about $10,000.
- Foundation launches official Facebook and Twitter pages. Now, important news can go out to in a number of ways: Newsletter, message board, e-mails, Facebook posts or Tweets.
- Work also begins on the revamp of the Web site to make it easier to update.
- Seventh biennial conference is again in Greenville, SC. We anticipate a record number of families (120) to attend, 12 of which were there for the first conference in 1998.
- Length of the conference expands to four days to accommodate more programming. After conference’s conclusion, interim scientific advisory council meets to map strategy.
- Foundation rents first international headquarters in Venice, FL. The office space will eventually house our staff, but for now is home to our first employee: an office assistant.
- Search begins for a Development Director and plans begin to be made to hire an Executive Director.
- In April, a new name is launched for the Foundation: Phelan-McDermid Syndrome Foundation.
- Revamped Web site that allows families to register online for the conference is launched. The Web site is evolving allows for more people to be able to post and update information.
- Second Sammy’s Run in Florida did better than 2009’s run in raising money and attracted world-class runners.
- Cern Basher’s climb of Mt. Aconcagua ends unexpectedly, but was an awesome effort.
- Research Support Committee members and others in March attend the Annual Clinical Genetics Meeting in Albuquerque and in May the Children’s Hospital of Philadelphia / International Meeting for Autism Research in Philadelphia where the Foundation co-sponsored a Phelan-McDermid Syndrome mini-symposium.
- Plans are made to attend Society for Neuroscience meeting in November in San Diego.
- The Research Support Committee draws up a Strategic Plan moving forward in research, awarding research grants, reaching out to the scientific community and advocating for a medical and data clearinghouse.
2011 – Looking ahead
- Anticipate the numbers of diagnosed cases to continue to grow (we’re at nearly 600 as of 2010 conference).
- Revamp of our Foundation brochure.
- Web site will be updated, adding rich layers of information, interactive capabilities and appealing graphics.
- Development Director is expected to be hired to help the Board set and carry out a detailed fundraising plan that will allow us to fund a growing list of the group’s needs.
- Search for an Executive Director will be under way. A committee is formulating a job description. Executive Director and Development Director will be based in our offices in Venice, FL adding to our growing staff.
- The Board of Directors will take a more idea-oriented approach to running the Foundation, offering more direction and less hands-on work.
- The Research Support Committee will look for more opportunities to team up with specialists in the genetic, medical and scientific communities to foster research into the causes of Phelan-McDermid Syndrome.
- Research Committee also will study the growing connection between Phelan-McDermid Syndrome and autism.
- Connections to autism groups will be strengthened as research shows there are some common underlying behavioral and genetic traits to both disorders.
- Membership will look for ways to streamline our Support Group registration process and how we keep track of our members.