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The 22q13 Deletion Foundation & Phelan-McDermid Syndrome Support Group
The families who have children diagnosed with 22q13 Deletion Syndrome have much in common. To many, it may be obvious: children with special needs. But to us it goes much farther beyond that. Our families have their own special needs. It’s the need to have the emotional support of other families that are going through the unique challenges we go through every day. You see, our children are in a very exclusive group. Our closest connection isn’t at our children’s school, or on the next block. It’s hundreds, sometimes thousands, of miles away. That’s why our Support Group is so vital to our children's future.
There are currently around 380 members in our database worldwide (as of February 2008), this number includes children and adults. As we have grown as a support group we've seen this number increase quite a bit over the years.
Dr. Katy Phelan brought us together in May 1992 after she started to identify families with children who are missing a part of their Chromosome 22. It was her initial 15 “telephone buddies” who planted the seed that has sprouted and grown to be the 22q13 Deletion Syndrome Foundation.
The Support Group’s initial meeting in 1998 was underwritten by The Greenwood Genetic Center in Greenwood, South Carolina, where Dr. Phelan worked as a cytogeneticist, and The Mikel Foundation, a charitable group interested in helping families with special needs children.
At that first meeting, 20 of the 23 families who were known at the time to have children with 22q13 Deletion Syndrome met in Greenville that August. We have just recently held our fifth conference, attended by 100 of our nearly 300 families. We expect our growth to continue as we plan for our 2008 conference.
The membership at each conference has created or expanded structures to unite our widespread 22q13 community over time and region. Out of the first Conference came a newsletter, family photo directory and the decision to meet biennially. Our newsletter, 22q13 Deletion UPDATE, is published quarterly and helps us to decrease our isolation by distance from one another.
Where relief and camaraderie marked our first Conference, the second was defined by empowerment. Our membership had roughly doubled and there were more than 30 families who attended the 2000 Conference in Columbia, South Carolina. The atmosphere was relaxed with plenty of time for families to get to know each other and to share ideas on improving the lives of our children.
Although deeply indebted to Dr. Phelan, her colleagues, the Greenwood Genetic Center and The Mikel Foundation, there was also a desire by some in the group that we must evolve. If our organization were to grow, its members had to help. Committees were established and the work begun.
“We felt a need to claim ownership, mostly because we are here for life,” parent and Foundation President Sue Lomas said.
We established a listserv through the Greenwood Genetic Center and a Message Group on Yahoo.com so parents could keep in touch between meetings. We also set up this Web site that has recently undergone major revisions in 2005. A cadre of families in the United Kingdom formed a regional group that first met in April 2002. A group logo was designed and various parents jumped in to help to plan the next program.
By the 2002 Conference our membership had moved well past the 100 mark and just over 40 families attended including ones from Brazil, England, Ireland, Canada and many of the lower 48 states. Members presented workshops on self-determination, the Individual Education Plan required by schools, estate planning, communication, and the federal Individuals with Disabilities Education Act.
At that conference, Dr. Heather McDermid of the University of Alberta in Canada, announced a breakthrough in determining the cause of our children’s’ chromosomal deletion. Dr. McDermid said she had narrowed the cause affecting our children’s neurological functions to a gene now known as SHANK3. At dinner, our families got to meet the Danielson family, without whose generosity through The Mikel Foundation we would not have been able to meet.
We also began initial planning for establishing our 22q13 Deletion Syndrome Foundation. The Foundation held its first meeting on the last day of our conference when we elected a board of directors and appointed an advisory board. Bylaws have since been written, firmly setting in motion our future as a non-profit organization supporting our Support Group.
Our membership continues to grow. Families in Florida and California have followed the example of our United Kingdom contingent and have met as regional groups. Other groups of families have met as well, but not in the formal setting of a regional meeting. Various families have held fund raising activities for our Foundation to help cover some of the costs of our biennial meetings.
The Executive Board of The Foundation met in the fall of 2003 at the South Eastern Regional Genetic Group Conference in Charleston, South Carolina. Much planning was done for our 2004 Conference. The Executive Board also agreed to add a second name to our children’s’ diagnosis. From that point forward, it became so much easier to explain to inquisitive members of the public that our children were diagnosed with Phelan-McDermid Syndrome, or PMS, in shorthand. The Foundation was federally recognized as a 501c3 non-profit organization in July 2003.
“I remember the frustration at the lack of information when Joey was first diagnosed,” parent and Executive Board Member Mary Pat O’Callaghan said. “You can’t go to Barnes & Noble or the library and pick up a book off the shelf about PMS. We read books about special needs, attended conferences and support groups. … But we found that most of what was discussed didn’t really apply to Joey. When we arrived at our first conference in 2000, we immediately felt that we belonged. ... And with the newsletter and message board we continue to feel connected.”
This 2006, we have just completed our fifth conference in July in Greenville, SC. Nearly 100 families attended, half of them newcomers to the group and 40 more than in 2004. Our board took a more active role in planning and running the conference, a major step toward the independence we talked about in 2000. Fund-raising was a critical topic that we discussed and we set up a fund-raising committee to raise money not only to pay for our 2006 Support Group meeting, but also to build toward our future. We also recruited a wider array of parents to take over critical roles in the group, mainly as committee chairs so the board could focus on long-term goals. Many parents again led discussion groups and seminars on schooling, legal issues and communication, among others.
The most valuable aspect of the meeting — as with the earlier ones — was the time to interact with other parents and children. This has always been an invaluable experience for families, especially newcomers, who gain inspiration from each other and strengthen the family bonds we all nurture. We are looking forward to our next conference in 2008. |
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The 22q13 Deletion Foundation & Phelan-McDermid Syndrome Support Group convenes every two years to give families a chance to meet others who have children affected by 22q13 Deletion Syndrome and to learn the latest information on therapies, medical issues and coping with a special needs child.
The Support Group’s first meeting in 1998 was underwritten by The Greenwood Genetic Center in Greenwood, South Carolina and The Mikel Foundation of Sullivan’s Island, South Carolina, a charitable group interested in helping families with special needs children. Our attendance numbers have grown with each conference since, all held at the Embassy Suites Hotel Greenville Golf Resort & Conference Center in South Carolina.
Most of the money that the 22q13 Deletion Foundation raises is used to pay for the costs associated with our biennial conference. To date, The Mikel Foundation and the Greenwood Genetic Center have provided money to cover many of the costs. Starting in 2006, the 22q13 Deletion Foundation was responsible for its own funding, so donations and fundraising ha become a priority. While we bring in speakers, volunteer parents provide for the majority of our activities related to the conference: discussion groups, family activities, conference material preparation, site planning and much more.
For more information or to register for the July 2008 22q13 Deletion Foundation Conference, click on the button.
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