September UPDATE

Dear Friend,

As the seasons change, we’re entering a time filled with fresh starts, exciting possibilities, and new routines. While this time of year can bring plenty of excitement, it can also come with added stress and adjustments- so remember to give yourself a little extra patience and care along the way.

In this eNews:

• Porphyria Merch: Get yours today!
• Upcoming Events: Livestream with Dr. Wang, Porphyria Palooza, Denver Meet UP.
• New Resources: Webinar recordings.
• Participate in Research: Insurance experience and Pathway Clinical Trial.
• Treatment Updates: Bitoperin expanded access.
• UPA and Partner Updates: UPA on the Lifetime Network, Latin America connections and more!
• Advocacy Update: What the FDA's New Strategic Plan means for porphyria.
• Porphyria Voices: Back to school special.
• Connect UP with Your Community: Find the group(s) for you!
• Our Stories: Meet Lexi and Lara.

We’re incredibly grateful for the strength, support, and connection found within this community. We’re so glad you’re here. 💜

With gratitude,

The UPA Team

You asked and we delivered! The UPA store has expanded to include clothing and accessories for the whole Porphamily!

Help raise awareness and show your porphyria pride with an item from one of our new collections:

• Porphyria Strong
• Porphyria Warrior
• Warrior Parents
• Porphamily
• UPA

With hoodies, hats, tees, phone cases, totes, car magnets, mugs and more, there is something for everyone!

Livestream Q&A with Porphyria Expert Dr. Bruce Wang

Join porphyria expert, Dr. Bruce Wang (UCSF) as he takes your porphyria questions live!

• Date: Saturday, September 26, 2026
• Time: 12:00pm ET (find your local time)
• Location: Porphyria Together Facebook Page, join now to participate 

Save the Date: In-Person Meet Up in Denver on November 6

Join UPA and porphyria community members in the Denver region for dinner and a patient meet-up. Enjoy a meal and connect with others in your area who understand what you’re going through.

Save the Date! Friday, November 6, 2026 at 7 PM

More details and registration coming soon!

In-Person: Porphyria Palooza, October 9-11, in Kansas City!

The countdown is on for Porphyria Palooza, and we can't wait to welcome our porphyria community for an unforgettable weekend of connection, learning, and fun!

There's still time for you to join more than 125 of your fellow porphyria community members for this incredible weekend!

Some of the highlights we're looking forward to:

• Complimentary one-on-one appointments with a porphyria expert
• A Friday night Game Show Studio experience
• The Saturday night dinner and dance
• An optional tour of the Chiefs Football Stadium on Friday afternoon
• Camp-style Kid Zone for our younger participants (register here).
• Engaging learning sessions featuring leading porphyria experts and the latest developments in care, treatments, and research.
• Countless opportunities, big and small, to onnect with others who truly understand the porphyria journey.

Registration is $25/person for adult and free for children and teens under 18, and includes all meals and snacks, activities and more! Get all the details and register at porphyriapalooza.com.

Travel stipends of up to $500 are available to help cover travel and registration costs for patients and their farmilies. Each porphyria patient family is eligible for one stipend application. Learn more and apply.

Webinar Recording: AHP Liver Surveillance and Care

Learn from Dr. Bruce Wang about the connection between liver health and acute hepatic porphyrias (AIP, HCP, VP & ADP), including:

• The connection between liver health, cancer, and acute hepatic porphyrias
• Liver health monitoring and surveillance recommendations

Webinar Recording: Porphyria & Mental Health: What You Should Know

Julie Wells from Give an Hour recently joined UPA to discuss the connection between chronic illness and emotional well-being, with a focus on the unique challenges faced by people living with porphyria.

In the recording, Julie covers:

• How past experiences shape our responses under stress
• The impact of uncertainty, self-advocacy, and medical trauma
• Crisis support resources and where to find help
• ...and so much more!

Porphyria Patient Experiences with Health Insurance

United Porphyrias Association wants to better understand the porphyria community’s experiences with health insurance coverage. 

You are invited to share your experiences with health insurance in this brief (10-15 minute survey).

What we learn will help us provide stronger support and resources related to coverage for clinical care and current and future treatments.

NOW RECRUITING! PATHWAY Clinical Research Study for EPP & XLP

PATHWAY is a clinical research study evaluating an investigational medication called PORT-77 for people living with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP).

The study is designed to learn how well PORT-77 works, understand possible side effects, and evaluate its potential impact on people living with EPP or XLP. Individuals with EPP or XLP may be eligible to participate. 

Who may be eligible? 

• Are 12 years of age or older 
• Have a confirmed diagnosis of EPP or XLP 
• Have symptoms consistent with EPP/XLP 
• Meet other study eligibility criteria, as determined by the study team 

The PATHWAY study is being conducted at sites across North America, South America, the United Kingdom, the European Union, Turkey, and Australia. To be connected with a study site, please complete this interest form.

The study is sponsored by GondolaBio, a clinical-stage biopharmaceutical company developing potential therapies for people living with genetic diseases. 

Porphyria patients are the center of all porphyria research!

There are multiple studies going on right now that need your patient expertise. Check out our current opportunities and find out how you can participate here.

Five Bitopertin Expanded Access Sites Open

Five sites for Disc Medicine’s Expanded Access Program (EAP) for bitopertin are now open to U.S. residents aged 12 and older.

Open sites are:

• Boston, MA | Amy (Dickey) Yeung, MD
• Boston, MA | Mark Amster, MD 
• New York, NY | Manisha Balwani, MD
• Miami, FL | Cynthia Levy, MD
• Winston-Salem, NC | Sean Rudnick, MD

More sites are expected to open in the coming months. United Porphyrias Association helps connect interested patients with available sites, especially when a site opens in or near their region. Patients may also be able to travel to an open EAP site.

UPA and EPP/XLP Featured on the Lifetime Network!

A powerful new two-part feature of The Balancing Act’s Behind the Mystery on the Lifetime Network is bringing the realities of EPP and XLP into homes across the country.

Our UPA friends Ryan and Nichole Beier courageously share their family’s experience, giving viewers an honest look at the challenges, resilience, and hope behind life with EPP. Porphyria expert and UPA Scientific Advisory Board member, Dr. Angelika Erwin, provides important medical insight, while UPA highlights the support, resources, and community available to patients and families.

We are incredibly proud of Ryan and Nichole for using their voices to help others feel seen and understood. It is a meaningful opportunity to expand awareness, shorten the path to diagnosis, improve care, and show families everywhere that they are not alone.

UPA Attends the Global Genes Rare Drug Development Symposium

Charlene Son Rigby (CEO, Global Genes) and Kristen Wheeden

The Global Genes Rare Drug Development Symposium was held in Boston last week, bringing together leaders from across the rare disease community.

UPA President Dr. Kristen Wheeden shared, “The energizing event left me proud of the important work underway across the porphyrias and hopeful for even greater progress.”

For UPA, events like this symposium are an opportunity to connect patients, researchers, clinicians, and industry, keep the patient voice at the center, and move promising ideas into meaningful action for every porphyria family worldwide.

UPA Latin America Supporting Connections Across the Americas

Art Therapy with Alas Purpuras

We’re very happy to share a few updates from UPA Latin America!

New! Find Your Community: We’re launching a new series of meetings called “Connect Up: Find Your Community,” to help patients across Latin America to learn about the different porphyria communities and organizations that exist in their countries. Our first session was an art therapy session with our friends from Alas Púrpuras in Colombia.

Connect UPs in Spanish: These wonderful meetings are a space for patients to share experiences, ask questions, and simply connect with others who understand life with porphyria. See upcoming meetings.

Course on Porphyrins and Porphyrias: UPA Latam is helping promote this course for health professionals organized by the Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP) in Argentina.

FDA Releases New Rare Disease Strategic Plan: What it Means for Porphyria

The FDA recently released its 2025–2030 Strategic Plan for the Accelerating Rare Disease Cures (ARC) Program. Created in 2022, ARC coordinates rare disease work across the FDA’s Center for Drug Evaluation and Research and helps improve how potential treatments are developed and reviewed.

UPA Legislative Advocacy Manager, Keili McEwen,has identified three parts of the plan that are especially important for porphyria patients.

First, ARC supports more flexible ways to study treatments for small patient populations, including innovative clinical trials, biomarkers, natural history data and measurements that reflect meaningful changes in patients’ lives.

Second, the plan calls for stronger engagement with patients and advocacy organizations. Patients’ experiences, priorities and views about treatment risks can help inform drug development and regulatory decisions.

Finally, ARC plans to strengthen training and coordination within FDA so reviewers can apply current science consistently while recognizing the unique challenges of rare diseases.

The plan does not guarantee new treatments, but it creates important opportunities for the porphyria community to help shape how therapies are developed and reviewed.

Read the full ARC 2025–2030 Strategic Plan.

Porphyria Voices is a UPA blog where we share experiences, insights, and advice from the porphyria community. Discover valuable knowledge, foster connections, and join us in raising awareness to empower and unite our porphyria family.

This month, in honor of back to school, we're pleased to share articles by two UPA Junior Ambassadors!

It's Not About Fitting In, It's About Not Standing Out: Growing Up with EPP

Navigating EPP in school, facing bullies and the emotional challenges of feeling different.

By Cheyenne

I was diagnosed with Erythropoietic Protoporphyria (EPP) at age nine and have navigated its physical and emotional challenges throughout middle and high school. I have been doubted, accused of seeking attention, and forced to choose between wearing uncomfortable protective gear and risking a painful reaction while playing the sport I love.

What many people do not understand is that “it’s not about fitting in, it’s about not standing out.” I hope my story encourages parents, friends, and others to listen to young people with EPP, respect the choices we make for our bodies, and recognize that living with a visible rare disease can affect far more than our physical health.

Back to School with Porphyria: How a 504 Plan or IEP Can Help

Accommodations such as 504 plans and IEPs can help students manage porphyria at school safely.

By Molly

Going back to school can be stressful for students with porphyria, especially when teachers and staff do not fully understand our needs or how to keep us safe from triggers. My 504 Plan has made school much easier by providing accommodations such as advance notice of fire drills, seating away from windows, extra time for assignments when medical issues arise, and protective goggles for class.

A 504 Plan or IEP can help students receive the support they need without repeatedly explaining their condition, giving patients and families greater safety, confidence, and peace of mind throughout the school year.

Connect UPs are safe, friendly online meet ups where you can connect with others who understand what you're going through.

Find the Connect UP Groups for You!

Connect UP groups are formed based on interest or shared experiences. Follow the links below or visit the Connect UP page to learn more about upcoming groups!

For Well-Being, Not Porphyria Specific

• Young Adults
• Guided Meditation
• Reflection & Prayer
• Caregivers
• Pacientes de Porfiria
• LGBTQIA+

For Acute Porphyrias (AIP, HCP, VP & ADP)

• Weekly Acute Porphyrias
• Monthly Evening Acute Porphyrias
• Men
• Paralysis

For Cutaneous Porphyrias

• CEP & HEP
• All Cutaneous (EPP/XLP, PCT, CEP, VP, HCP)
• Cutaneous Youth

New Connect UP Groups

Cutaneous Youth Connect UP

A welcoming space for youth with cutaneous porphyria to connect with others who understand, share experiences, talk about the challenges of navigating everyday life with porphyria, and simply be themselves. Facilitated by Molly, a UPA Junior Ambassador.

First meeting: Saturday, September 19 at 3 PM ET

Register

Reflection & Prayer Connect UP - NEW MEETING DAY

Reflection & Prayer meetings moving to the second Tuesday of every month!

A welcoming space centered on prayer, reflection, and spiritual support, led by Shawn Willis and special guests. This gathering offers a peaceful space to come together, share intentions, and find comfort in community. Whether you'd like to pray, listen, or simply be present, all are welcome.

Next meeting: Tuesday, October 13 at 7 PM ET

Register

Connect Anytime: Porphyria Together Facebook Group

Share your successes and struggles on our private Facebook community: Porphyria Together.

This group is a great place to connect with others, gain tips and insights on managing your porphyria, and access exclusive livestreams where porphyria experts take your questions.

Connect Anytime: Porphyria WhatsApp Community

UPA has created a WhatsApp Community, a private messaging space that allows members to connect through a phone or computer. Community members can stay in touch, share resources, ask questions, and support one another.

The community includes separate, closed discussion groups based on porphyria type and shared experiences. This creates a safer, more focused space for people to connect with others who understand.

Meet Lara, AIP Warrior

"Despite the challenges, I see a bright future ahead."

For most of my life, my greatest physical challenge was nerve damage in my left leg following surgery as an infant. I never let it define me. I played sports, ran 5Ks, hiked Colorado's 14ers, and walked the Camino de Santiago in Spain.

In 2014, after my mother was diagnosed with Acute Intermittent Porphyria (AIP), I learned that I also carried the AIP gene. I remained symptom-free until September 2022, when a severe attack sent me to the emergency room and vegan a new chapter in my life. As my attacks became more frequent, I had to accept that AIP was changing what my body could tolerate. After moving to Germany, I began treatment in February 2026 and experienced six months without an attack, giving me renewed hope and freedom.

Although my journey continues, I am deeply grateful for the steadfast support of my husband, family, and the porphyria community. AIP has taught me to view life differently, appreciate many blessings, and remember that I am never alone.

Meet Lexi, EPP Warrior

"Do you know what happens when an EPP mom gets too much sun? She still has to parent."

I have lived with Erythropoietic Protoporphyria (EPP) since infancy. Growing up, sunlight meant excruciating pain, missed childhood experiences, and feeling isolated from my peers. Over time, connecting with others who have EPP helped me embrace my needs and stop feeling ashamed of protecting myself.

Motherhood brought new challenges. I want to swim, play, and make outdoor memories with my two young children but even after too much sun, I still have to parent through the pain. Through the Expanded Access Program, I recently began treatment with bitopertin. Within my first week, I could already enjoy walks and the pool with my children without pain or full protective gear. For the first time, I feel able to step into the light with them, and I remain hopeful that access to this life-changing treatment will continue.

We want to help you share your story

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