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. Sammy weighed 2 lbs 4 oz and was in the Neo-Natal Unit for almost 5 months at Arnold Palmer Hospital in Orlando, FL. Wonder what he is thinking? Today, his smile is contagious to everyone who knows him!

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

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

6. Birth of PMS Foundation 1998 - the first support group meeting was held in South Carolina – 22 families attended 2000 – biennual meetings 2002 - five families formed a board 2003 - Foundation received non- profit status 2003-present – family fundraisers 2010 – Office established with paid staff

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

8. The Foundation Supports Families Resources Biennial family conferences Newsletters Website Yahoo & Facebook communication Regional representatives –& gatherings Fundraisers

9. Family Support

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

11. 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

12. PMS & Autism Statistics Dr. Alex Kolevzon, Mount Sinai Hospital, New York, (used standardized autism diagnostic measures) found: 50% meet strict criteria for autism and 80% have autism spectrum disorder.

13. Social Media Impact Facebook & Twitter Raising awareness Increasing membership worldwide Families communicate daily Increasing fundraising

14. # Diagnosed Individuals

15. Families Attending Conference

16. Transitioning from family support to family AND research support Initial mission to support families Research Support Committee established in 2003 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

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

18. What’s Next? IMPACT I – Involve all sateholders in collecting data M – Measure outcomes P – Plan based on results A – Act on possibilities C – Communicate findings T – Touch the lives of all with a better quality of life