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We want 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 together, we are stronger. Let’s take a journey together as we share our personal stories and have meaningful interviews with porphyria and rare disease experts and the patients and families impacted. We’ll talk: diagnosis, treatment, misdiagnosis, managing daily life tips, ways to cope physically, mentally and emotionally and everything rare.
What Dr. Charles Marques Lourenco Said Will SURPRISE You about Porphyria - Today on Rarely Discussed, we're joined by a leading voice in the world of rare diseases—Dr. Charles Marques Lourenço. Dr. Lourenço is a clinical biochemical geneticist whose work has made a significant impact on our understanding and treatment of porphyria. With a deep focus on both the hepatic and cutaneous forms of this complex condition, he’s contributed to cutting-edge research, presented internationally, and played a key role in improving diagnostic testing and clinical care for patients around the globe. Whether it’s uncovering the mechanisms behind porphyria-induced paralysis or helping physicians navigate rare dual diagnoses, Dr. Lourenço brings clarity and compassion to some of medicine’s most mysterious cases. We're honored to have him with us today to shed light on what porphyria is, how it's evolving in the medical field, and what hope looks like for those living with it. And today I have the honor of sitting down with him. Welcome to the rarely discussed podcast.
How Mount Everest Led To The Diagnosis of Acute Intermittent Porphyria - Today’s guest has faced one of the most extreme and life-altering journeys we've ever heard on this podcast. Nancy Pometta was diagnosed with Acute Intermittent Porphyria—or AIP—just two hours before her 30th birthday, after enduring ten years of unexplained pain, vomiting, and countless misdiagnoses. But it wasn’t until she was hiking near Mount Everest in 2023 that her symptoms took a frightening turn. What started as leg pain became full-body weakness, and by the time she returned to the U.S., Nancy had collapsed, was rushed to the ICU, and eventually lost the ability to move her arms and legs. Doctors suspected Guillain-Barré, but as things got worse, that theory crumbled—until an internist noticed the unusual color of her urine and remembered something she had seen once in med school. That moment changed everything. A positive PBG test finally led to the right diagnosis: AIP. After months of paralysis, therapy, and emotional pain, Nancy received her first Panhematin infusion—and called it the best birthday gift she’s ever received. But her challenges didn’t end there. Even after returning to work in 2024, she faced disbelief and stigma from coworkers who couldn’t see what she’d survived. Through it all, Nancy has become an advocate for porphyria patients, committed to helping others feel seen, supported, and understood. I’m honored to have her here to share her incredible story.
The PAINFUL Truth About Living With Erythropoietic Protoporphyria! Today’s guest is someone who’s not only living with a rare condition but is actively working to make life better for others who are navigating the same path. Michelle Capon’s journey with Erythropoietic Protoporphyria—or EPP—led her to seek out answers, support, and eventually a sense of community through the Canadian Association for Porphyria. What started as a personal search for treatment options has grown into something much bigger. Michelle became passionate about connecting patients and healthcare providers across Canada, and now she’s helping build a national support system, one step at a time. Her story is one of quiet leadership, hope, and the belief that even the smallest efforts can lead to something brilliant. I’m excited to welcome her today to share her journey with EPP, her advocacy work, and her vision for the future of porphyria care in Canada.
Mental Health with a Rare Disease: What Actually Helps - In this solo episode of Rarely Discussed, host Andrew McManamon dives into the rarely talked-about connection between mental health and living with porphyria. Whether you’ve been recently diagnosed with acute intermittent porphyria or have been managing symptoms for years, this episode offers a candid, science-backed look at the emotional toll chronic illness can take—and what you can do about it. Andrew shares the routines he’s trying to rebuild after personal loss, how therapy, journaling, and proper self-care have made a difference, and why even the smallest steps can lead to meaningful change. If you’re searching for mental health resources for porphyria, support tools, or just someone who truly understands what you're going through, this episode is for you.
31 Years Without a Diagnosis: Kelly’s Battle With Variegate Porphyria - Welcome to the Rarely Discussed podcast, Today’s guest has been on an extraordinary journey—one that spans decades, misdiagnoses, and a relentless fight for answers. Kelly Burns began experiencing strange and painful symptoms early in life—nerve pain, nausea, abdominal attacks, and severe reactions to medications. But for 31 years, no one could figure out what was wrong. Like many living with acute porphyria, her symptoms were vague, confusing, and often dismissed by those around her. But at age 39, after years of suffering and skepticism, Kelly finally got her answer: a diagnosis of Variegate Porphyria, a rare type that affects both the nervous system and the skin. Since then, she’s taken her experience and turned it into advocacy, becoming a leading voice in the porphyria community. She now serves on the board of the Canadian Association for Porphyria and launched the powerful Light the Sky Purple campaign, which has lit up over 80 landmarks in support of rare disease awareness. Today, she’s here to share her long road to diagnosis, her fight for recognition, and the movement she’s building to shine a light—literally—on porphyria.
Living With Porphyria: A Patient And Caretaker Perspective - On this episode of the Rarely Discussed Podcast, Co-host Andrew McManamon had the opportunity to sit down with the DiPerna family to get the perspective of a Porphyria Patient (Daughter) AND the caretaker(s) (Parents) to tell the story of Claire DiPerna's diagnosis, her hardships, and what her parents, Erin and Jim had to face to ensure their daughter was getting answers.
From Porphyria To Cancer: How Trials Helped The Journey - On this episode of the Rarely Discussed Podcast, Andrew McManamon has the opportunity to sit down with Mike Boone, someone who truly defines resilience, someone we’d call a medical hero and I know he’d be too humble to admit, but the porphyria community is so small that even what you’d think are small commitments, mean the world to us as patients. Mike Boone was diagnosed with Acute Intermittent Porphyria back in the early 2000’s, but It wasn’t new to his family—his great uncle, grandmother, and mother were all diagnosed before him—but that didn’t make it any less overwhelming. After experiencing repeated attacks and struggling to figure out how to support his family, Mike found the American Porphyria Foundation, which connected him to Panhematin, a treatment that finally gave him some relief.
Pregnancy & Porphyria: Living Life With Porphyria - Rarely Discussed hosts Nicole Castellano and Andrew McManamon had the opportunity to sit down with the one and only Megan Parrish, who has been a big advocate for herself during her Porphyria journey as well as the American Porphyria Foundation. Megan discusses living with Porphyria, what she's learned along the way as well as her pregnancy journey too. Stay tuned!
A Perspective From A Scientist With A Rare Disease - During this special in-person conversation at The International Congress of Porphyrins and Porphyrias (ICPP 2024) September 21-25, 2024 held in Pamplona, Spain. Rarely Discussed hosts Nicole Castellano and Andrew McManamon had the extraordinary opportunity to sit down with Francesca Granata , PhD, molecular biologist and Porphyria expert, known for her Ted Talk titled, "How to step out from the shadows” talking about her experiences as a erythropoietic protoporphyria (EPP) patient and a scientist advocating everyday for Porphyria. Francesca talks about her story, her struggles, experience and her efforts toward advocacy.
Spreading Awareness For Porphyria & Creating An Association. During this special in-person conversation at The International Congress of Porphyrins and Porphyrias (ICPP 2024) September 21-25, 2024 held in Pamplona, Spain. Rarely Discussed hosts Nicole Castellano and Andrew McManamon had the wonderful opportunity to sit down with Kika Shabot who is not only the acting vice president for the Global Porphyria Advocacy Coalition (GPAC), but the President of the Mexican Porphyria Society as well. Kika talks about the hardships of creating a Porphyria association in Mexico and how asking for help has paved the way for their success.
How Journaling Has Led To Breakthroughs For Porphyria - During this special in-person conversation at The International Congress of Porphyrins and Porphyrias (ICPP 2024) September 21-25, 2024 held in Pamplona, Spain. Rarely Discussed hosts Nicole Castellano and Andrew McManamon had the wonderful opportunity to sit down with Derry Wilcox who is not only the Treasurer for the Global Porphyria Advocacy Coalition (GPAC) as well as the Treasurer for the Canadian Association For Porphyria. Derry talks to us about his personal Porphyria story, and how he handles living with this rare disease.
Why Finding Community Is Important When Dealing With A Rare Disease - During this special in-person conversation at The International Congress of Porphyrins and Porphyrias (ICPP 2024) September 21-25, 2024 held in Pamplona, Spain. Rarely Discussed hosts Nicole Castellano and Andrew McManamon had the wonderful opportunity to sit down with Nadezda Pejovic, the founder of the National Associations of Porphyria's Serbia, where she speaks about her experience as a pharmacist and how it's helped with her Acute Intermittent Porphyria diagnosis and how important it has been to have a community.
Using Pain Management Techniques To Ease Suffering with Dr. Judith Hudson. Nicole and Andrew had the opportunity to sit down with Dr. Judith Hudson who is a psychologist who specializes in chronic pain and addiction. She works for the VA and also serves on the American Porphyria Foundation scientific advisory board, and her focus is on the neuroscience of pain and alternative treatments for chronic pain.
This is an episode you DON'T want to miss!
Why Advocating is the only way. Nicole and Andrew had the opportunity to sit down with Shelly Berman-Rubera, a business owner, coach, speaker and author who talks about the importance of advocating for yourself and how important it is to have a voice, especially when it comes to dealing with rare diseases. Shelly, as an entrepreneur herself, has faced countless hurdles that she had to push through, and those valuable experiences have reflected in her personal life trying to get a proper diagnosis for almost 12 years, and finally getting the answers she's been pushing so hard to get.
Dr. Roy E. Smith Talks Rare Disease & Treating Porphyria With Ease! Nicole and Andrew had the opportunity to sit down with Dr. Roy E. Smith out of Pittsburgh, Pennsylvania to talk about the treatment of Porphyria, his expertise on the matter, patient hardship and so much more. This is an episode you don't want to miss!
Grieving The Life You Had With A Rare Disease & Being Content With The Little Things - It’s time to laugh!
Nicole and Andrew had the opportunity to sit down with Debra Knapp. Debra was a successful attorney who began to have terrible acute attacks. Eventually, her disease was so difficult that she could no longer work. Now she is choosing to help patients face their porphyria. Debra has been a wonderful advocate and guide to new members in the foundation.
Everyone knows her best as being the most selfless person when it comes to coming to the aid of others, and in this interview Debra breaks down her diagnosis, her hardships, experiences and so much more that makes this episode one that you’ll have to most definitely take the time to listen to.
How Advocating Led To Breakthroughs | Living With Porphyria For Over 47 Years - Andrew and Nicole had the opportunity to sit down with the one and only Terri Witter, who was diagnosed with Porphyria 47+ years ago before the American Porphyria Foundation was even established.
Terri walks us through how she dealt with Porphyria before there was a process, the countless research studies she was apart of, her conversation with the FDA and how advocating for herself has led to extraordinary breakthroughs for everyone dealing with this rare genetic disorder.
Stay tuned, this is one you don't want to miss!
Caregivers Perspective On Rare Disease | Keeping Balance In Chaos - In this episode of Rarely Discussed, we decided to take on Porphyria and Rare diseases in the perspective of someone who is a caregiver and the hardships that come with being the support system for a spouse, and how finding balance amidst the "chaos" is crucial to keeping a relationship thriving.
Warren Hudson has been a MASSIVE part of the American Porphyria Foundation for a very long time, jumping in headfirst when his former spouse was diagnosed with Acute Intermittent Porphyria, and what his perspective looked like as someone seeing a loved one in constant pain.
We had the opportunity to chat with George Hodder and learn more about his story as someone who lives with the rare disease called Erythropoietic Protoporphyria (EPP). George talks about finding things that work for you, having a balance, ways he's coping, family and so much more.
This story relates on so many levels to people dealing with rare diseases whether it's EPP or not there is value in this episode for you!
We had the opportunity to chat with the one and only Tasha Alicea as she talked about her story, her struggles, and everything that has paved the way to who she is today as someone living with Hereditary Coproporphyria.
This is her Story.
An American Porphyria Foundation Podcast, with your hosts Andrew McManamon and Nicole Castellano. We both have porphyria, a rare disease. We want 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 together, we are stronger. There are 300 million people around the world that live with rare diseases who share many similarities.
Let’s learn and heal together as we share our personal journeys and have meaningful interviews with porphyria and rare disease experts and families impacted by porphyria and rare diseases. We’ll talk diagnosis, treatment, misdiagnosis, managing daily life tips, ways to cope physically, mentally and emotionally and everything rare.
Welcome to the first episode of the Rarely Discussed Podcast:
An American Porphyria Foundation Podcast, with your hosts Andrew McManamon and Nicole Castellano. We both have porphyria, a rare disease. We want 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 together, we are stronger. There are 300 million people around the world that live with rare diseases who share many similarities.
Let’s learn and heal together as we share our personal journeys and have meaningful interviews with porphyria and rare disease experts and families impacted by porphyria and rare diseases. We’ll talk about diagnosis, treatment, misdiagnosis, managing daily life tips, ways to cope physically, mentally and emotionally and everything rare.
