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Undiagnosed disease to rare disease discovery: Perspectives from a patient family

Speaker
  • Co-founder, ADCY5
    Biography
      Gay started ADCY5.org to provide a place for newly diagnosed families of ADCY5 related-Dyskinesia, an ultra Rare Disease. They currently have one of the largest Rare Disease stem cell projects. Working with biotech partners, almost $3 million has been dedicated to ADCY5 related-Dyskinesia related science through ADCY5.org. Speaking publicly at conferences and to organizations about the first hand experience of Whole Genome Sequencing, personalizes how a diagnosis for her daughter, after 15 years, changed their family's lives. Sharing this story with a variety of audiences including, but not limited to, precision medicine conferences, patient advocacy conferences, and graduate and medical school seminars, fosters partnerships within our community. We Are All Rare, a patient education book Gay co-authored, together with her daughter, who has a Rare Disease, provides an educational tool for families entering primary school, complete with a list of valuable resources. Meeting with her Congressman to encourage support of The OPEN ACT, Medicaid reimbursement, and access for persons with disabilities, gives her the opportunity to share the patient family perspective with policy makers. She is currently serving on the Global Genes Foundation Alliance Advisory Council, their Summit Planning Committee for the 2018 International RARE Patient Advocacy Summit, and on the developing team for the Genetics 101 class. She is an Ambassador for Illumina; for the Rare Undiagnosed Genetic Disease (RUGD) program. Gay works with key opinion leaders like Rare Science, Global Genes, EveryLife Foundation, and other patient advocacy organizations to engage through social media, conferences, and personal networking. Gay started her career in Sales and Sales Training with Glaxo Inc. where she directed a study on Physician Impressions of Corticosteroids and how to best position them in the marketplace. Gay uses this foundation of science and her own experience to relate the burden of disease, bringing awareness through advocacy and public speaking. She successful advocates in environments including, but not limited to, educational classrooms, private, state, and federal insurance, and collaborating in the Rare Disease space to gain access to medical therapies.

    Abstract

    One would think that getting the diagnosis after fifteen years would end the journey. How does your work at the bench affect patients and how can you change lives through cell therapy?  This talk highlights the power of precision medicine with the story of the ADCY5 gene variant and the journey of a family who went from being n of 1 to having fifty stem cell lines. The mother of a patient shares her perspective and determination to find a diagnosis and advancements in science and technology that will help hasten the path towards treatment.


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