May UPDATE

Dear Friend,

May has been a wonderfully busy month in our porphyria community! With Global Porphyria Day, Sun Escape Weekend and advocacy initiatives, we're uniting to raise awareness, build connections and advance therapies.

Here are highlights of what you’ll find in this month’s resource-packed newsletter:

• Upcoming Webinars- Register today!
• Global Porphyria Day - Thank you and recap
• Q&A with Dr. Bruce Wang- Recording from May 17 livestream
• Sun Escape Weekend Memories
• Porphyria Stories- Meet Maria, a six-year old with CEP
• New Online Training for Health Care Providers
• UPA in the Community- Advocacy days on Capitol Hill and collaborating with the Undiagnosed Diseases Network
• Patient and Family Conference – Coming together in community, travel support available!
• International Porphyrias Symposium – Advances in research and care
• APOLLO Trial- Recruiting for Phase 3 bitopertin trial

Memories from May 2025

Scroll down to learn more and see how you can get involved. Always remember that you are not alone!

Warmly,

The UPA Team

Navigating Porphyria Treatment Costs: How HealthWell Can Help

Friday, June 6

Did you know that the HealthWell Foundation offers a financial lifeline to underinsured Americans with porphyria who struggle to afford critical medical treatments? 

Join Crystal and Emily from the Healthwell Foundation, as they provide an overview of the HeathWell Porphyrias Fund including the eligibiilty criteria and application process, and answer your questions. 

• Date: Friday, June 6, 2025
• Time: 1:00 PM ET (find your local time)
• Location: Zoom, register for the link

From Molecules to Medicine: The Science of Porphyria

Saturday, June 21

Join porphyria expert John Phillips, PhD and fellow patient (and UPA President’s Council Chair) Lina Rebeiz for a deep dive into the science of porphyria. We’ll be exploring topics like:

• What the heme biosynthetic pathway is and how it works
• Why different types of porphyria have such different symptoms
• Why porphyria lab tests need to be protected from light

Register to get your questions answered!

Details:

• Date: Saturday, June 21, 2025
• Time: Noon to 1:00 PM ET (find your local time here)
• Location: Zoom, register for the link!

We are thrilled to share that the United Porphyrias Association has received official acceptance from the U.S. Food and Drug Administration (FDA) to host an Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting on Congenital Erythropoietic Porphyria (CEP) - a milestone moment for the CEP community and for rare disease advocacy!

With the support of porphyria experts, the CEP community is ready to take this bold step forward - to share their truths, influence research priorities, and advocate for better treatments.

What to Expect



The meeting will follow the standard EL-PFDD structure:

• Patient and caregiver panels sharing first-hand experiences
• Discussions focused on daily impact, treatment experiences, and unmet needs
• A final Voice of the Patient report submitted to the FDA and made publicly available to inform regulatory decisions and future drug development

We are honored to serve as the host organization and grateful for the FDA’s partnership and support. We'll share registration details and participation opportunities in the coming months.

May 18th was Global Porphyria Day, an annual day of awareness where we come together as an international community to share our stories and advocate for greater understanding, timely diagnosis and a world free from the pain and challenges of porphyria. 

This year we focused on the painful realities of living with porphyria with the theme #RealPeopleRealPain.

We were blown away by the community response!

From your churches, workplaces and families wearing purple, to the countless experiences you shared across social media, your participation is helping to create a world free from the pain and challenges of porphyria.

Thank you for participating. Whether it was through commenting, liking or sharing content, or recording a video or writing your story, together our community was able to spread the word about porphyria 💜

Check out the video below for a recap of the day and visit the Real People Real Pain campaign page to learn more about porphyria pain.

$2,844 Raised to help porphyria community members attend Patient & Family Weekend in October!

We are so grateful to everyone who donated to our Global Porphyria Day fundraiser. Within days of launching we had already reached our original goal of $2,000!

You can still donate to help us reach our stretch goal of $3,500! All donations will support travel costs for porphyria families to attend our Patient & Family Conference in Arlington, VA in October 2025.

Reflections on Global Porphyria Day

For Global Porphyria Day, we asked patients to describe their pain

By Kristen Wheeden

The United Porphyrias Association (UPA), where I serve as president, recently asked our community to do something more raw and vulnerable than ever before. For Global Porphyria Day on May 18, we asked: “What does porphyria pain feel like?”

And you answered. Goodness, did you answer.

Thank you to our Global Porphyria Day Sponsor!

To help kick off Global Porphyria Day, Dr. Bruce Wang, Porphyria Expert at UCSF, took your questions live in the Porphyria Together Facebook Group.

A huge thank you to all the livestream participants and to Dr. Wang! We covered some important topics, including:

• Chronic pain management in the acute porphyrias
• The impact of puberty on EPP severity
• Drug and vaccine safety
• When to go to the hospital for an acute attack
• Why CEP impacts the spleen

...and much more! Check out the time stamps in the video description to find questions of interest to you!

Have a question? You don't need to wait until the next livestream! Email it to info@porphyria.org and we'll arrange for a UPA Scientific Advisory Board member to respond!

"There are no words to describe the amazing experience we had this weekend. I just wanted the kids to have fun while I talked with others about possible medical options. That was blown out of the water in the first few hours. We’re building a community, and that changes everything—less pain, less guilt, and no more feeling alone."

- Sun Escape Parent

United Porphyrias and Shadow Jumpers teamed up again for a Sun Escape Weekend that was nothing short of magical. From archery and zip lining to petting zoos and superhero missions, every moment was designed with love, imagination, and light-free fun.

"In my entire life, I have never experienced such an outpouring of love and affection from so many people simultaneously. I feel deeply grateful."

Here, every camper got to be exactly who they are — brave, creative, full of life — and maybe even discover the superhero inside them.

"Our girls are smiling, and Julianna feels like she can do hard things—like wear her hat—after leaving camp. We are so grateful. Our family felt so seen, cared for, and loved. We all made new friends and are grateful for this community."

Thank you to every child, family, volunteer and team member who made this weekend unforgettable. See you in 2026 — and don’t forget your cape!

"Volunteering as a family pal has deeply affected me. My family left a mark on my heart that I will carry with me for a lifetime. I love my shadow-jumping community. Together we are not alone"

Thank you to our sponsors for making Sun Escape possible!

Maria is a six-year old CEP warrior living with her family in Beirut, Lebanon. Her mother, Marwa, shares her story.

From the moment she was born, something wasn’t right—her urine was red. Alarmed, her family rushed to the pediatrician, only to be reassured that everything was normal. Tests were done, but the answer was always the same: “There’s nothing to worry about.” 

For a few years, Maria lived like any other child—laughing, playing, going out into the sunlight. No one knew that the very sun that warmed her skin was quietly causing damage she could not escape.

But by the time Maria turned four, warning signs could no longer be ignored. Her skin was unusually pale, her urine still red, and her teeth were turning a dark crimson. Her mother felt something deeper was wrong. And so began the long, painful journey of testing—bloodwork, specialist visits, unanswered questions. Doors kept closing. No doctor could explain what was happening to her.

Want to share your story?

We're here to help! Fill out an interest form or reach out to our Director of Community Engagement at info@porphyria.org.

We are pleased to share some valuable new online education resources are available for health care providers. As a patient or caregiver you may also find them helpful, though some of the language is technical!

Erythropoietic Protoporphyria (EPP): Phototoxic, light-triggered reactions and systemic complications associated with accumulation of PPIX

In this video on demand series, Dr. Bruce Wang and Dr. Gayle Ross provide a well-rounded overview of EPP (also applies to XLP), including:

• What causes EPP reactions
• The impact of EPP and XLP on daily life including pain, mental health, employment and schooling
• Recommendations for the treatment, management of EPP/XLP and their complications

Acute Hepatic Porphyria: Expert Guidance on Diagnosis and Management

Dr. Rebecca Karp Leaf and Dr. Bruce Wang provide case studies and discuss the causes, diagnosis, treatment and management of acute hepatic porphyrias (AIP, HCP, VP and ADP).

This presentation is eligible for Continuing Medical Education (CME) credits.

Multidisciplinary Management of Acute Hepatic Porphyria

In this presentation, Dr. Amy Dickey, Dr. Rebecca Karp Leaf and Dr. Herbert Bonkovsky provide an overview of:

• The cause and types (AIP, HCP, VP and ADP) of acute hepatic porphyria
• How AHP is diagnosed
• Treatments for AHP, including hemin, GnRH analogues, givosiran and liver transplant
• Managing triggers and lifestyle factors
• Annual testing recommendations

This presentation is eligible for Continuing Medical Education (CME) credits.

UPA on Capitol Hill: Advancing Skin Disease Advocacy with the Coalition of Skin Diseases

This week, UPA Legislative Advocacy Manager Aly Hemenway and President Kristen Wheeden joined the Coalition of Skin Diseases (CSD) on Capitol Hill for its annual Development Day.

Together with fellow advocates, we met with over 100 congressional offices to elevate the voices and key priorities of those impacted by often-overlooked conditions, including cutaneous porphyrias.

Key priorities presented to legislators included:

• Increased funding for the NIH and NIAMS to support skin disease research
• Support for the Chronic Diseases Education and Awareness Program at the CDC
• Backing the Safe Step Act to reform step therapy protocols
• Advancing the HELP Copays Act to ensure co-pay assistance counts toward out-of-pocket maximums
• Promoting Pharmacy Benefit Manager (PBM) reform to improve transparency and drug affordability

Aly shares, "The timing couldn’t have been more impactful- with major political figures on the Hill and a crucial healthcare vote just days away. It was unforgettable to be part of this push for change."

We’re proud to be a member of the Coalition and grateful for the opportunity to help raise the profile of porphyria alongside a united front of skin disease advocates.

YOU can help advocate for change too- visit the CSD Take Action page to learn more.

Kristen and Aly at CSD Hill Day

Bridging Diagnostic Gaps: UPA and UDNF Align to Help Patients Find Answers

On May 20th, UPA's Patient Navigator, Erin Janiak, RN, was invited to speak with the team at the Undiagnosed Diseases Network Foundation (UDNF) - a national nonprofit dedicated to supporting patients whose search for a diagnosis has hit a wall, even after exhaustive testing.

Erin delivered a tailored “Porphyrias 101” presentation to help the UDNF staff understand how and when to suspect porphyria, how to access appropriate testing, and what support resources UPA provides.

Moving forward, we hope to create a referral partnership with UDNF:

• When UDNF encounters patients who may have porphyria, they’ll connect them with UPA for evaluation and testing.
• When patients come to us and porphyria is ruled out, we’ll guide them to UDNF for continued diagnostic exploration.

Together, we’re strengthening the diagnostic ecosystem—so no patient remains stuck in the dark. Patient Navigators, Unite!

Tell us about your advocacy and awareness efforts!

We love to hear about your advocacy and awareness efforts too! Please send them our way at info@porphyria.org.

We are thrilled to invite you to a truly special gathering—the Patient & Family Conference at the International Porphyrias Symposium!

The Patient & Family Conference is created by patients, for patients and families—a place where you can connect, learn, and feel truly understood in a safe and supportive environment.

Featuring:

• Interactive sessions on the day-to-day realities of porphyria
• A Saturday night dance party!
• Q&A with porphyria experts
• A 24-hour dedicated space where you can relax and connect with your porphyria friends- old and new!

Here's what attendees at past events had to say:

I’ve made great friends and unforgettable memories. Every detail is planned out and geared 100% towards us. We aren’t alone and being rare is really special. -Courtney

It felt like a family reunion of lost loved ones connecting. - Candace

Registration is $25 per family. All sessions, meals and activities are included!

When?

Saturday, October 11 at noon- Sunday, October 12, 2025 at noon

Where?

Westin Arlington, Arlington, VA

Need help getting there?

A limited number of $250 travel stipends are available. Learn more and apply here.

Dive deeper in the latest porphyria research and treatments at the International Porphyrias Symposium

The 2025 International Porphyrias Symposium, October 9-12, is a premier educational event dedicated to advancing knowledge in heme biosynthesis and the pathogenesis and treatment of the acute hepatic and erythropoietic porphyrias.

Beginning with an Introductory Course on Heme Biosynthesis and Porphyrias on Thursday, October 9, the symposium will bring together leading physicians, researchers, and industry experts to discuss the latest breakthroughs in diagnosis, management, and treatment.

Patients and caregivers are able to attend the Symposium at a discounted rate. Learn more!

Are you 12 years or older and diagnosed with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP)?

If so, an exciting study may be an option for you!

Disc Medicine is conducting the APOLLO Study to evaluate Bitopertin, an investigational oral medication designed to reduce protoporphyrin IX levels and potentially ease symptoms related to sun exposure.

Key Details:

• Participants needed at U.S. study sites- new sites are open
• Travel & related expenses covered by the study sponsor

If you're interested in learning more, please fill out the Study Interest Form—your responses are completely confidential and only used to determine interest in receiving further details.

Have questions? We’d love to talk! Call 800-868-1292 or email info@porphyria.org for more information.

Connect UPs are small, virtual meetings hosted by somebody who knows what you're going through. Sign up to be connected with a group of your peers!

Groups are available for all types of porphyria and for caregivers. New groups will be formed based on interest.

You are not alone

Sometimes you need to talk to someone who understands.

With UPA 1:1, we connect you with a UPA Ambassador who understands what you're going through, because they've been there too.

Connect by phone or video call to receive support, guidance and build meaningful connections with a fellow porphyria patient or caregiver. Available in English and Spanish.

Want to help others on their porphyria journey?

We are inviting patients and caregivers to become volunteer UPA ambassadors.

Help fellow porphyria patients and caregivers navigate their diagnosis and adjust to the realities of living with porphyria.

Comprehensive training will be provided.

 Add United Porphyrias to your social media feeds. 

You made it to the end! 🎉

Thanks for scrolling all the way through May UPdates! There’s a lot happening in porphyria, and we're so glad to have you with us.

Take a moment to click through the links and buttons above to find helpful resources, ways to get involved, and opportunities to stay connected.

As always, we’re here for you - supporting, listening, and moving forward together.

With gratitude,

The UPA Team