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 empowers patients to expedite diagnosis and access genetic counseling. The episode highlights the challenges rare disease patients face, the importance of accessible testing, and the evolving role of technology and AI in transforming rare disease care, helping shorten diagnostic timelines, and ultimately improving patient lives.

Episode Highlights:

• Nicole Castellano shares her challenging journey with acute hepatic porphyria, including years of misdiagnoses and surgeries before receiving a proper diagnosis.
• Advancements in genetic testing have significantly impacted rare disease diagnosis, enabling more accurate and timely detection for patients like Nicole.
• The American Porphyria Foundation (APF) provides resources, support, and genetic testing options, making it easier for patients and doctors to access accurate information.
• Partnerships with organizations like Sequencing.com are helping empower rare disease patients by offering full-genome sequencing and genetic counseling for clearer diagnostic paths.
• Diagnostic odysseys are common in rare diseases; APF aims to raise awareness among primary care providers to consider rare diseases early on.
• AI and whole-genome sequencing have the potential to expedite rare disease diagnosis and improve patient outcomes by refining diagnostic testing and data interpretation.
• The APF's advocacy work includes creating global awareness, educational materials, and treatment resources to support patients and healthcare providers worldwide.

Know more about Nicole's story

LINKS:

https://www.drjeremykoenig.com/
https://www.instagram.com/drjeremykoenig/
https://www.youtube.com/@drjeremykoenig