1. Sue Lomas sue@pmsf.org

2. From Idea to IMPACT: Building a Foundation that Inspires Families Sue Lomas “Sam’s Mom” President Phelan-McDermid Syndrome Foundation

3. What does Phelan-McDermid Syndrome (22q13 Deletion) look like? Global delays Absent or delayed speech Sleep Issues Gastro Intestinal issues Seizures Sensory Issues Behaviors

4. Discovery of Deletion 22q13 Drs. Katy Phelan, Greenwood Genetic Center, South Carolina discovered deletion Dr. Heather McDermid, University of Alberta, Canada studied the 22 chromosome In 1992, Drs. Phelan and McDermid collaborate and identify individuals who are missing part of chromosome 22 at the q13 band.

5. Birth of PMS Foundation In 1998, first support group meeting held in South Carolina – 22 families attend Foundation was started as a support for families. Foundation receives non- profit status in 2003. ___ ____

6. Why do families join the Foundation? Support –Emotional –Community Resources –Medical Information –Educational Resources –Legal Resources Research –Information –Opportunities to participate in research studies

7. How Foundation Supports Families Resources Biennial family conferences Newsletters Website Yahoo & Facebook communication Regional representatives & gatherings Fundraisers

8. Family Support

9. Sammy’s Run Family Supported Events… Ride for Logan Annie’s Golf Classic

10. What is PMS’ connection to Autism? SHANK3 deletion / mutation association with Autism 2000, 22q13 deletion & PDD http://www.ncbi.nlm.nih.gov/pubmed/10735630 2000, 22q13.3 deletion & autism http://www.ncbi.nlm.nih.gov/pubmed/11121193 2004, 22q13 deletion & autism http://www.ncbi.nlm.nih.gov/pubmed/15286229 2005, SHANK3 implicated in autism http://www.ncbi.nlm.nih.gov/pubmed/16059935 2007, SHANK3 & Autism http://www.ncbi.nlm.nih.gov/pubmed/17173049

11. PMS & Autism Statistics Dr. Alex Kolevzon (used standardized autism diagnostic measures) found: 50% meet strict criteria for autism and 80% have autism spectrum disorder.

12. Social Media Impact Facebook & Twitter Raised awareness Increased membership worldwide Families communicate daily Increased Fundraising

13. # Diagnosed Cases

14. Families Attending Conference

15. Transitioning from family support to family AND research support Initial mission to support families Research Support Committee established in 2003 In 2010, research committee wrote the first strategic plan for science. ~ 2010 PMS knock out mice began to be developed by researchers Co-Sponsored symposium at international meeting for Autism research in Philadelphia. 2011 1 st PMS Research Symposium in NYC 2011 Research grants awarded by Foundation 2011 PMSF International Registry (PMSIR) launched 2012 Biosample Collections established for DNS & iPS cells Held symposium at 2012 biennial conference

16. The Future… Continue advocacy, family support, awareness International growth Increase fundraising Additional research: Registry Growth Bio Repository Increased Awareness Among Clinicians Establish Clinics

17. Next up - IMACTING Researchers