Phelan-McDermid Syndrome Foundation Awarded Grant from Global Genes

By Mark Vieth, Senior Vice President

 Ashley and Ollie

Ashley and Ollie

Congratulations to our client, the Phelan-McDermid Syndrome Foundation (PMSF), who was recently awarded one of twelve 2018 “RARE Patient Impact Grants” from Global Genes (www.globalgenes.org).

Representing more than 1,500 families of individuals with Phelan-McDermid Syndrome, PMSF seeks to improve the quality of life of people affected by the Syndrome by providing family support, accelerating research and raising awareness. Phelan-McDermid Syndrome is a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene. Manifestations of the disorder include intellectual disability of varying degrees, delayed or absent speech, symptoms of autism spectrum disorder, low muscle tone, motor delays, and epilepsy.

The grant was submitted by PMSF advocate Ashley Shattles, whose son, Olie, passed away last year. The grant will support the “PMSF Angels End of Life Toolkit” developed by Ashley, which will provide a focal point composed of support resources to prepare families at the end of their PMS child’s life. While a child’s potential death is a difficult issue to discuss, the PMSF Angels End of Life Toolkit will provide tangible information while the patient is alive and immediate value when a death occurs. The toolkit will include a family resource guide, a PMS angels support group, Voices of Support multimedia materials and a foundation-level support program.

CRD Associates is fortunate to be able to work with the Phelan-McDermid Syndrome Foundation, and particularly to work with dedicated advocates like Ashley, who fight every day to make a better life for their families, their community and our country!

The full list of grantees can be viewed here:  https://globalgenes.org/2018grantrecipients/

Lisa Ellington

Big Thinkery, LLC, 1011 Kenilworth Court Northwest, Concord, NC, 28027