Robin's two grandsons were diagnosed with SEPN1-RM in late 2014 after a terrible diagnostic oddesy that led them through three states and countless doctors. Soon after, Robin started researching organizations that support CMD, and came across Cure CMD, whose offices were located literally 10 minutes from her home! And so, since 2015, Robin has been our "boots on the ground" local volunteer, ensuring our office continues to run smoothly and efficiently. Robin not only dedicates several hours a week in the office (earning her own desk!), she also puts in countless hours from home. Some days, it's 4am and Robin's emailing, updating the registry, editing files.
Some of her past and ongoing tasks include:
Curation of all genetic reports submitted to the CMDIR
CMDIR profile updates and duplicate profile consolidation
Biobank specimen ID cataloguing and reporting of phenotypic/genotypic data associated with sample back to Coriell
Telephone and Email outreach to the CMD community (hey, pick up the phone when she calls you!)
Management of the CMD Scientific Publication Library
Management of the CMD Researcher Database
Thank-you letters to researchers publishing in CMD
Coordination of 2017 CMD SciFam Kids Camp, exhibitors, sponsors and speakers
Filing, copying, mailing, cleaning, organizing - anything and everything she is asked
Robin continues to inspire us with her dedication, and reminds our staff every day what we are working toward. Kids and adults like her two grandsons need us to continue working toward improved diagnostics, better care, and treatments. Words cannot express our gratitude for you, Robin - you keep us on track.
Here's Robin introducing one of our SciFam speakers, and giving you a little insight into her passion for Cure CMD.