Latest / The DNA of Things with Dr. Jeremy Koenig
Episode 32: Patient to Advocate: Nicole Castellano’s Journey with Porphyria
In this episode of The DNA of Things, Dr. Jeremy Koenig speaks with Nicole Castellano, Executive Director of the American Porphyria Foundation, about her journey from patient to advocate for rare disease awareness, specifically focusing on acute hepatic porphyria. Nicole shares her decade-long diagnostic journey, marked by severe symptoms, misdiagnoses, and unnecessary surgeries, ultimately finding relief through genetic testing and appropriate treatment. They explore advancements in genetic testing, including full-genome sequencing and the APF’s collaboration with Sequencing.com, which…
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