Spotlight Porphyria
Welcome to Spotlight Porphyria where we feature all things porphyria! Including:
Porphyria Voices shares experiences, insights, and advice from the porphyria community.
What's UP Doc? Where porphyria experts take your questions.
Summing UP explains the latest research in easy-to-understand summaries
Meet your experts and advocates where we meet the people changing the world for porphyria.
…and more!
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May 2026 Porphyria eNews
Your May porphyria UPdates are here! Featuring new AHP treatment guidelines, research opportunities, upcoming events and more.
Managing Acute Porphyrias: International Guidelines
These guidelines are the result of an international effort by porphyria experts to evaluate the existing research and evidence about the management of acute porphyrias (specifically AIP, HCP and VP), and develop recommendations to support safe and consistent care across the world.
Her Final Year: What Love Looked Like When We Didn’t Have Answers
A powerful caregiver story by Heather about love, uncertainty, and resilience during her mother’s final year. A moving reflection on living without answers, finding meaning in small moments, and navigating the emotional journey of caregiving and undiagnosed illness.
Bitopertin Expanded Acces
Disc Medicine is planning an Expanded Access Program, or EAP, for bitopertin in the United States for people with EPP or XLP ages 12 and older. Complete an interest form to learn more.
I Would Choose You, Every Time
Going into our marriage, I knew there would be struggles. Not just the typical marriage struggles, but the kind where I would stand by his side through every surgery, every pain, every blister, every sore. I knew there would be days where I’d help button his pants, put on his shoes and socks, cut up his food, open things for him, and so much more. I went into this marriage knowing I wasn’t just becoming his wife — I was also becoming a caretaker.
Meet Nate, Histiocytosis (HLH) Warrior & Advocate
In recognition of Rare Disease Week, we’re shining a light on Histiocytosis. After 12 years of misdiagnosis and 16 surgeries, Nate was finally diagnosed with Hemophagocytic Lymphohistiocytosis (HLH). A bone marrow transplant saved his life. Read his story.
Genetic Testing Results: Variant of Uncertain Significance (VUS) & De Novo
Question: My genetic test for AIP shows a VUS and I was told the variant was de novo- what does this mean?
The Holidays Look Different When You Live With Porphyria
The holiday season can be joyful but physically and emotionally challenging for people living with porphyria. In this powerful personal story, Kalyn Shelton shares how the holidays impact daily life with porphyria and offers honest reflections, coping strategies, and hope for patients and families across all types of porphyria.
Meet Dr. Rebecca Karp Leaf, Porphyria Expert
“Patients help us do better research—you ask the questions that we need to answer! “
Contraception Recommendations for Acute Hepatic Porphyrias
Question: Our 17-year-old daughter has the gene for AIP. Should she avoid hormonal birth control? Are there safe options for her?
Finding Strength in Small Steps: A Patient's Guide to Recovery from Paralysis
Maria Paula Galvis, an AIP patient from Colombia, shares her heartfelt advice on recovering from paralysis. Learn how to cultivate the right mindset, celebrate small wins, and listen to your body during rehabilitation.
Join UPA’s Patient Artist Team!
You’re invited to join UPA’s team of patient artists called Unseen Warriors by UPA to highlight the importance of research and advancing treatments for multiple rare diseases. The challenge is being hosted by the NIH.
Aida's Art: Painting Through Porphyria with Strength and Purpose
Read how Aida uses art to navigate life with Congenital Erythropyietic Porphyria (CEP). Discover her portraits of Jason Momoa and Jack Sparrow, and learn how painting gives her courage, purpose, and a voice.
Theme Parks and Porphyria: Sean’s Story of Flexibility, Fun, and Flare-Ups at Universal
UPA Ambassador Sean Albright shares his experience visiting Universal Studios while managing Variegate Porphyria. From smart prep to a sudden flare, Sean shows how adapting plans can still lead to a great time.
The burden of EPP: Putting numbers to the realities of daily life
This study asked adolescents and adults with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP) how sunlight affects their skin, daily life, emotions, school and work, and healthcare use. The goal was to put numbers to what many already live every day.
Safe Summer Travel with Cutaneous Porphyria: Sun-Avoidance Strategies That Work
Need to avoid the sun? Your fellow porphyria patients share their best tips and tricks for making the most of summer holidays when you have a cutaneous porphyria.
What Family Members of AHP Patients Should Know: High Levels, No Symptoms
This research looked at close relatives of people with acute hepatic porphyria (AHP). The relatives had never been tested or had symptoms of porphyria, but the study found that more than half of them had the gene for porphyria and a significant number had elevated levels of urine PBG and ALA.
When Accolades Fade: Discovering True Worth Through Porphyria
A powerful personal journey of living with acute intermittent porphyria (AIP)—and discovering true worth beyond accolades. If porphyria has changed your life, this story is for you.
Spring Sun Safety: Essential Sun Protection Tips for Cutaneous Porphyria Patients
Discover science-backed sun protection strategies for cutaneous porphyria (EPP, VP, PCT, CEP & HCP) this spring. Learn about UPF clothing, safe sunscreens, and smart sunlight avoidance techniques.
Living with EPP and Liver Disease: What We Learned from Patients
This study looked at the impact of liver disease on people with EPP by comparing the experiences of EPP patients with and without liver disease.