36: Global Porphyria Expert ON: The Hidden Reality of Porphyria Patients

36: Global Porphyria Expert ON: The Hidden Reality of Porphyria Patients

In this episode of Rarely Discussed, we sit down with Dr. Penny Stein, one of the leading global experts in porphyria care and research. As a Consultant in Haematological Medicine at King’s College Hospital in London, Dr. Stein specializes in acute porphyrias and plays a critical role in the National Acute Porphyria Service (NAPS)—caring for patients with some of the most complex and severe cases.Dr. Stein’s impact extends far beyond the UK. Through her work with the International Porphyria Network (IPNET), she collaborates with physicians worldwide to develop clinical guidelines and improve outcomes for patients living with porphyria. She also supports organizations like the British Porphyria Foundation and the American Porphyria Foundation, helping bridge the gap between research, care, and patient advocacy.In this conversation, we explore:• How she became a leading porphyria expert• The biggest advancements in diagnosis and treatment• What the future holds for porphyria therapies• Her experience consulting with doctors around the world• And even the fascinating historical connection between porphyria and vampire/werewolf myths💜 Whether you're a patient, caregiver, or healthcare professional, this episode offers rare insight into one of the most misunderstood conditions in medicine.🎧 Subscribe to Rarely Discussed for more real conversations with patients, caregivers, and global experts in rare disease.Rarely Discussed Podcast 🎙️→Rarely Discussed: https://beacons.ai/rarelydiscussedFOLLOW Rarely Discussed:→YouTube: https://shorturl.at/mtuwO→Instagram: https://shorturl.at/xGHPT→Tik Tok: https://shorturl.at/qEGQZMEET Nicole Castellano:→Nicole's Story: https://t.ly/IsGK7→Facebook: https://shorturl.at/krQZ8→Instagram: https://www.instagram.com/nicowildkat/?hl=enMEET Andrew McManamon:→Andrew's Story: https://t.ly/01JLz→Facebook: https://t.ly/kHuvX→Instagram: https://t.ly/Htuwg→Tik Tok: https://t.ly/eK1bPAmerican Porphyria Foundation:→Website: https://porphyriafoundation.org/→Instagram: https://rb.gy/osvb08→Facebook Group: https://rb.gy/217o99→YouTube Channel: https://rb.gy/9s0kcmDisclaimer:The information shared in this video is intended to raise awareness and provide insight into personal experiences with porphyria and related conditions. It is not intended to be taken as medical advice. Everyone’s health situation is different, and viewers should always consult with a qualified healthcare professional for diagnosis, treatment, and medical guidance tailored to their specific needs.#porphyria #porphyriapodcast #americanporphyriafoundation __________This podcast is supported by Recordati Rare Diseases. Recordati has no control or influence over the content mentioned in this podcast.

35: Wheel of Fortune Contestant Shares Her Rare Disease Journey (Acute Intermittent Porphyria))

In this powerful episode of Rarely Discussed, we sit down with Vonda Ulfig to share her incredible journey from medical mystery to life-changing diagnosis.In 2017, Vonda spent nearly two months in and out of the hospital with unexplained symptoms, leaving doctors searching for answers. It wasn’t until someone asked a simple but critical question—“Have you tested her for Acute Intermittent Porphyria?”—that everything changed. That moment led to her diagnosis and ultimately saved her life through treatment with Panhematin.Since then, Vonda has not only regained control of her health but has gone on to earn her Doctorate in Business Administration in 2019, receive multiple professional certifications, and continue building a life centered around family, resilience, and balance. As a wife, mother, and professional, she shares what it truly looks like to live with AIP—and thrive.🎡 From surviving a life-threatening condition to even appearing on Wheel of Fortune, Vonda’s story is a powerful reminder that diagnosis is not the end—it’s a new beginning.💜 This episode is for anyone navigating rare disease, searching for answers, or learning how to live beyond diagnosis.Subscribe to Rarely Discussed for more real stories from patients, caregivers, and doctors in the rare disease community.Rarely Discussed Podcast 🎙️→Rarely Discussed: https://beacons.ai/rarelydiscussedFOLLOW Rarely Discussed:→YouTube: https://shorturl.at/mtuwO→Instagram: https://shorturl.at/xGHPT→Tik Tok: https://shorturl.at/qEGQZMEET Nicole Castellano:→Nicole's Story: https://t.ly/IsGK7→Facebook: https://shorturl.at/krQZ8→Instagram: https://www.instagram.com/nicowildkat/?hl=enMEET Andrew McManamon:→Andrew's Story: https://t.ly/01JLz→Facebook: https://t.ly/kHuvX→Instagram: https://t.ly/Htuwg→Tik Tok: https://t.ly/eK1bPAmerican Porphyria Foundation:→Website: https://porphyriafoundation.org/→Instagram: https://rb.gy/osvb08→Facebook Group: https://rb.gy/217o99→YouTube Channel: https://rb.gy/9s0kcmDisclaimer:The information shared in this video is intended to raise awareness and provide insight into personal experiences with porphyria and related conditions. It is not intended to be taken as medical advice. Everyone’s health situation is different, and viewers should always consult with a qualified healthcare professional for diagnosis, treatment, and medical guidance tailored to their specific needs.#americanporphyriafoundation #porphyria #acuteintermittentporphyria __________This podcast is supported by Recordati Rare Diseases. Recordati has no control or influence over the content mentioned in this podcast.

34: F-16 Command Pilot TURNED Caregiver For Wife With Porphyria

In this powerful episode of Rarely Discussed, we sit down with Charles “Digger” Davis—a retired U.S. Air Force Lieutenant Colonel, combat-decorated F-16 Command Pilot, and now full-time caregiver to his wife, Ginger, who lives with Acute Intermittent Porphyria (AIP).After 25 years of military service and 115 combat missions, Digger’s life took an unexpected turn following his own diagnosis of Multiple Sclerosis. Years later, another challenge emerged when his wife Ginger endured nearly 31 years of unexplained pain and misdiagnosis before finally being diagnosed with AIP in 2023.In October 2023, Digger made the life-changing decision to retire completely and become her full-time caregiver—navigating hospital visits, advocating for proper care, and supporting her through a complex and unpredictable rare disease.This episode dives into:• What it truly means to be a caregiver• Navigating the healthcare system with rare disease• Balancing his own MS diagnosis while caring for his wife• The emotional and physical realities families face• The importance of advocacy, persistence, and supportDigger also shares his perspective as a member of the American Porphyria Foundation’s Member Advisory Board, helping guide and support others walking a similar path.Rarely Discussed Podcast 🎙️→Rarely Discussed: https://beacons.ai/rarelydiscussedFOLLOW Rarely Discussed:→YouTube: https://shorturl.at/mtuwO→Instagram: https://shorturl.at/xGHPT→Tik Tok: https://shorturl.at/qEGQZMEET Nicole Castellano:→Nicole's Story: https://t.ly/IsGK7→Facebook: https://shorturl.at/krQZ8→Instagram: https://www.instagram.com/nicowildkat/?hl=enMEET Andrew McManamon:→Andrew's Story: https://t.ly/01JLz→Facebook: https://t.ly/kHuvX→Instagram: https://t.ly/Htuwg→Tik Tok: https://t.ly/eK1bPAmerican Porphyria Foundation:→Website: https://porphyriafoundation.org/→Instagram: https://rb.gy/osvb08→Facebook Group: https://rb.gy/217o99→YouTube Channel: https://rb.gy/9s0kcmDisclaimer:The information shared in this video is intended to raise awareness and provide insight into personal experiences with porphyria and related conditions. It is not intended to be taken as medical advice. Everyone’s health situation is different, and viewers should always consult with a qualified healthcare professional for diagnosis, treatment, and medical guidance tailored to their specific needs.#rarediseases #multiplesclerosis #acuteintermittentporphyria__________This podcast is supported by Recordati Rare Diseases. Recordati has no control or influence over the content mentioned in this podcast.

33: Meet the NEW Executive Director of the American Porphyria Foundation: Thomas Pletkovich!

It’s an absolute honor to welcome Thomas Pletkovich as the new Executive Director of the American Porphyria Foundation (APF). With deep gratitude to Nicole and Desiree for their tireless dedication in positioning APF for continued success, Thomas steps in with a powerful commitment to advancing the Foundation’s mission: improving the lives of individuals and families affected by porphyria through education, research, advocacy, and support.Thomas brings more than 20 years of experience in healthcare, pharma, and rare disease advocacy, having held leadership roles at Pierre Fabre Pharmaceuticals, Syneos Health, Johnson & Johnson, GlaxoSmithKline, and more. His most recent role as Rare Disease Regional Director at Pierre Fabre highlighted his global vision and patient-first approach—qualities he now brings to APF during a critical period of growth. With expertise in drug discovery, patient assistance program expansion, and awareness campaign development, Thomas is prepared to help lead the charge in 2026 and beyond.But it’s not just his professional background that sets him apart—it’s his heart for people. A proud father and grandfather, Thomas is passionate about global travel, the arts, and empowering patient communities to thrive. His leadership is grounded in empathy, advocacy, and a strong desire to see porphyria patients receive the care, visibility, and resources they deserve.Please join us in welcoming Thomas to the APF family. The future of porphyria care is in very capable hands.Rarely Discussed Podcast 🎙️→Rarely Discussed: https://beacons.ai/rarelydiscussedFOLLOW Rarely Discussed:→YouTube: https://shorturl.at/mtuwO→Instagram: https://shorturl.at/xGHPT→Tik Tok: https://shorturl.at/qEGQZMEET Nicole Castellano:→Nicole's Story: https://t.ly/IsGK7→Facebook: https://shorturl.at/krQZ8→Instagram: https://www.instagram.com/nicowildkat/?hl=enMEET Andrew McManamon:→Andrew's Story: https://t.ly/01JLz→Facebook: https://t.ly/kHuvX→Instagram: https://t.ly/Htuwg→Tik Tok: https://t.ly/eK1bPAmerican Porphyria Foundation:→Website: https://porphyriafoundation.org/→Instagram: https://rb.gy/osvb08→Facebook Group: https://rb.gy/217o99→YouTube Channel: https://rb.gy/9s0kcmDisclaimer:The information shared in this video is intended to raise awareness and provide insight into personal experiences with porphyria and related conditions. It is not intended to be taken as medical advice. Everyone’s health situation is different, and viewers should always consult with a qualified healthcare professional for diagnosis, treatment, and medical guidance tailored to their specific needs.#americanporphyriafoundation #apof #porphyria __________This podcast is supported by Recordati Rare Diseases. Recordati has no control or influence over the content mentioned in this podcast.

32: THIS is what it's like living with Porphyria Cutanea Tarda (PCT) With Carrie Hunter

Today’s guest is Carrie Hunter, a powerhouse of resilience, leadership, and advocacy. Diagnosed with genetic Porphyria Cutanea Tarda (PCT) after years of uncertainty, Carrie endured 2 years of worsening symptoms before receiving a diagnosis at age 33. Her journey: filled with hospital visits, strict lifestyle changes, and immense personal strength, has only fueled her drive to help others. Now, the CEO and Founder of It’s Not That Serious, she leads a women’s empowerment brand and storytelling platform built to connect, uplift, and celebrate women through intentional content and thoughtfully curated products. Carrie brings more than two decades of executive leadership across tech, communications and construction. She’s a mom, a mentor, and a passionate advocate for women in construction, mental health awareness and diversity across the AEC ecosystem. She is living proof that porphyria may change your path, but it doesn’t define your potential. Carrie, welcome to Rarely Discussed. Subscribe to Rarely Discussed for more real stories from patients, caregivers, and doctors navigating the rare disease world.Rarely Discussed Podcast 🎙️→Rarely Discussed: https://beacons.ai/rarelydiscussedFOLLOW Rarely Discussed:→YouTube: https://shorturl.at/mtuwO→Instagram: https://shorturl.at/xGHPT→Tik Tok: https://shorturl.at/qEGQZMEET Nicole Castellano:→Nicole's Story: https://t.ly/IsGK7→Facebook: https://shorturl.at/krQZ8→Instagram: https://www.instagram.com/nicowildkat/?hl=enMEET Andrew McManamon:→Andrew's Story: https://t.ly/01JLz→Facebook: https://t.ly/kHuvX→Instagram: https://t.ly/Htuwg→Tik Tok: https://t.ly/eK1bPAmerican Porphyria Foundation:→Website: https://porphyriafoundation.org/→Instagram: https://rb.gy/osvb08→Facebook Group: https://rb.gy/217o99→YouTube Channel: https://rb.gy/9s0kcmDisclaimer:The information shared in this video is intended to raise awareness and provide insight into personal experiences with porphyria and related conditions. It is not intended to be taken as medical advice. Everyone’s health situation is different, and viewers should always consult with a qualified healthcare professional for diagnosis, treatment, and medical guidance tailored to their specific needs. #porphyria #americanporphyriafoundation__________This podcast is supported by Recordati Rare Diseases. Recordati has no control or influence over the content mentioned in this podcast.