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Sue Lomas

Sue Lomas. sue@ pmsf.org. From Idea to IMPACT: Building a Foundation that Inspires Families. Sue Lomas “Sam’s Mom” President Phelan-McDermid Syndrome Foundation. What does Phelan-McDermid Syndrome (22q13 Deletion) look like?. Global delays Absent or delayed speech Sleep Issues

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Sue Lomas

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  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. Family Supported Events… Sammy’s Run Ride forLogan 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 1st 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

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