#327 How Patient Advocacy is Changing Rare Disease Research

February marks Rare Disease Month, and we’re kicking it off with an incredible advocate in the rare disease community—Gay Grossman!

Gay is the co-founder of ADCY5.org, a foundation dedicated to supporting individuals with ADCY5-related movement disorder. Her advocacy journey began with her daughter, Lilly, who went undiagnosed for 15 years before becoming the first known patient with a full-body presentation of ADCY5-related movement disorder.

Since then, Gay has transformed her personal experience into global action, building a rare disease community that has directly influenced research and treatment options. Her efforts have bridged the gap between patients, families, researchers, and industry stakeholders, leading to groundbreaking advancements in genetic testing, patient data sharing, and treatment development.

Gay now works at GeneDx, where she continues to empower families through genetic testing and data-driven research.

On This Episode We Discuss:

- Raising a child with an undiagnosed rare disease – The emotional and practical challenges of a 15-year diagnostic journey - The power of community in rare disease research – How ADCY5.org changed the research landscape - Genetic testing and patient data – Why it’s crucial for rare disease families and how to leverage it - Life after diagnosis – How Lilly manages symptoms and what treatments have been most effective - How YOU can support the rare disease community – Advocacy, awareness, and action

If you are in the San Diego area, join Gay Grossman, Effie Parks and other rare disease advocates at their event downtown on Feb 28th (aka Rare Disease Day), more info here. If you are not in San Diego, find an event more local to you here.

Speaking of Effie Parks, be sure to check out her podcast Once Upon A Gene, and stick around until the end to hear her son Ford’s adorable laugh. Effie was on Episode #203 of DNA Today and our host Kira Dineen was a guest on her podcast in Episode #143.

During this episode we also mentioned another parent of a kid with a rare disease that includes sleep disturbances. Scotti Taylor shared about her daughter’s Smith Magenis Syndrome on Episode #293.

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.

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