As a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time - I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong.
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As a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time - I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong.
GeneDx Launches Cerebral Palsy Genetic Testing Pillar & Discover Snapshot: For Deeper Insights and to Help You Grow Your Patient Community – with Gay Grossman
Once Upon A Gene
32 minutes
6 months ago
GeneDx Launches Cerebral Palsy Genetic Testing Pillar & Discover Snapshot: For Deeper Insights and to Help You Grow Your Patient Community – with Gay Grossman
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
Once Upon A Gene
As a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time - I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong.
