Welcome to Rarely Discussed, an American Porphyria Foundation Podcast, with your hosts Andrew McManamon and Nicole Castellano. We both have Porphyria, which is a rare disease. As scientifically different as rare diseases can be, we share many similarities on how it affects our lives. We’re here to open the discussion and give the porphyria and rare disease community a safe place to connect, learn and heal. Being rare can feel lonely and isolating, but we’re stronger together.
38: 1 in 10 People In The WORLD Have THIS! | Milton's Story of his ALAD Porphyria (ADP) Diagnosis
In this episode of *Rarely Discussed*, we sit down with Milton Cubas, one of fewer than 10 people ever diagnosed with ALAD Porphyria (ADP), one of the rarest forms of porphyria in the world. After his first attack as a child in Colombia, Milton endured years of recurring attacks, debilitating neuropathy, hospitalizations, and weekly hematin infusions before his life changed dramatically in August 2023. While traveling to a friend’s wedding, he received the incredible news that a liver had become available from a family member, leading to a successful transplant that effectively cured his porphyria. Milton shares the unforgettable journey to diagnosis, life with an ultra-rare disease, the transplant that gave him a second chance, and why his message to the porphyria community remains simple: **Knowledge is Power.**READ MORE ABOUT MILTON 👉 https://porphyriafoundation.org/for-patients/member-stories/alad-porphyria/milton-cubas/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 #aladporphyria #adpporphyria__________This podcast is supported by Recordati Rare Diseases. Recordati has no control or influence over the content mentioned in this podcast.
23 Jun 2026
37: Surviving Acute Intermittent Porphyria: A Nurse Practitioner's Journey from Patient to Advocate
April Trebelhorn was 28, pregnant, and caring for her hospitalized son when an Acute Intermittent Porphyria attack showed its ugly face. Today she's a Family Nurse Practitioner, porphyria specialist, and advocate with the American Porphyria Foundation — turning her story into hope for the next generation.
Rarely Discussed Podcast 🎙️
→Rarely Discussed: https://beacons.ai/rarelydiscussed
FOLLOW 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
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→Website: https://porphyriafoundation.org/
→Instagram: https://rb.gy/osvb08
→Facebook Group: https://rb.gy/217o99→YouTube Channel: https://rb.gy/9s0kcm
Disclaimer: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.
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This podcast is supported by Recordati Rare Diseases. Recordati has no control or influence over the content mentioned in this podcast.
29 Apr 2026
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.
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YouTube views
17,680
Score snapshot 15 Sept 2025
Apple Podcasts (US)
5.0 / 5
8 ratings
Spotify
5.0 / 5
6 ratings
Podcast Authority Score: 58 / 100
A composite of feed quality, social presence, YouTube performance and engagement. Read the methodology.
Quality
46
Social presence
94
YouTube
76
Engagement
51
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