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May 1, 2025 32 mins
In this episode of Once Upon a Gene, I’m joined again by rare mom and powerhouse advocate Gay Grossman. Gay works at GeneDx—home to one of the largest clinical genomic databases—and she’s here to share two exciting updates that could change everything for rare families and patient advocacy orgs. We talk about: GeneDx’s new commitment to the cerebral palsy community and why every CP diagnosis deserves a genetic test How families can access exome and genome testing through telehealth The launch of the Discover Snapshot, a tool designed to help rare orgs find, understand, and grow their communities using real genomic data We also dive into why many CP, autism, and epilepsy diagnoses are just the beginning—and how getting to the root cause can open doors to treatments, clinical trials, and life-changing connection. 🔗 Resources & Links: Request your Patient Count or Discover Snapshot: advocacy@genedx.com Learn more about genetic testing and CP: GeneDx.com Access testing through Genome Medical: Genome Medical Key Topics: Genetic testing access and equity Ending the diagnostic odyssey for CP Empowering patient advocacy orgs with data How to use genetic diagnoses to unlock treatment options The power of community and connection
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