June UPDATE

Dear Friend,

As summer heats up, we’re thinking of all of you navigating the season with strength and resilience. We see you, we admire your resilience, and we’re walking alongside you.

This month’s newsletter is brimming with resources, updates, and opportunities to stay connected, informed, and supported. Here’s what you’ll find below:

• We want to see you in person! Join us at the Patient & Family Weekend in October
• Catch up on webinars and live Q&As- new recordings available
• New research- what relatives of people with acute porphyria need to know, results from bitopertin extension
• Sun-safe travel tips when you have cutaneous porphyria
• Porphyria Voices- When Accolades Fade: Discovering True Worth Through Porphyria 
• Run from the Sun- Sisters raise porphyria awareness
• Porphyria stories- Mariana's Story
• New research opportunities- for acute porphyrias and EPP/XLP
• UPA in the community- CZI Rare as One Meeting, youth panel at Disc Medicine
• New education website for EPP & XLP

June 2025 memories

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

Warmly,

The UPA Team

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

Connecting with someone who knows what you're going through is life-changing.

The Patient & Family Conference is a whole weekend of opportunities organized 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!

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?

$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.

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

From Molecules to Medicine: The Science of Porphyria

Porphyria Expert John Phillips, PhD answered our questions and took a deep dive into the science of porphyria during our June 21 webinar!

Learn about:

• What the heme biosynthetic pathway is and how it works
• Why different types of porphyria have such different symptoms
• Why different types of porphyria have different tests
• ...and much more!

Huge thank you to Dr. Phillips for sharing his knowledge and fellow patient (and UPA President’s Council Chair) Lina Rebeiz for moderating!

Navigating Porphyria Treatment Costs: How HealthWell Can Help

The HealthWell Foundation offers a financial lifeline to underinsured Americans with porphyria who struggle to afford critical medical treatments.

Thank you to Crystal and Emily from the HealthWell Foundation for joining us on June 6th and providing an in-depth overview of the HeathWell Porphyrias Fund including the eligibiltiy criteria and application process, and for answering our questions. 

What's UP Doc? Live Recordings are now available on YouTube

You can now catch up on all the questions from past What's UP Doc? Livestreams!

Check out the captions to find jump to the questions that interest you.

Get your questions answered! Remember to join the Porphyria Together Facebook page to participate in future livestreams and connect with your porphyria community.

"A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria"

This research looked at close relatives of people with acute hepatic porphyria (AHP- includes AIP, HCP, VP). The relatives had never been tested or had symptoms of porphyria.

The findings have important implications for testing relatives of AHP patients and regular monitoring for those who have high levels of PBG, even if they don't have symptoms.

Summing UP features the latest porphyria research in easy-to-understand summaries that have been reviewed and approved by the UPA's Scientific Advisory Board of porphyria experts.

Visit our Spotlight Porphyria blog for more Summing UP.

New data from HELIOS open-label extensions trial of bitopertin presented at European Hematology Association (EHA) Annual Congress

HELIOS is an ongoing Phase 2, open-label, long-term extension trial that enrolled 86 adult and adolescent patients with EPP from the BEACON and AURORA trials.

Key findings from the presentation:

• Longer term treatment with bitopertin was associated with sustained reductions in the disease-causing toxin PPIX, with additional benefit for patients receiving the 60 mg dose continuously
• Continuous treatment with 60 mg of bitopertin reduced ALT and other exploratory liver and bile biomarkers
• Nearly all participants reported substantial improvements in quality of life measures
• Bitopertin exhibited a favorable longer-term safety profile with up to 2+ years of exposure and similar safety across adults and adolescents with EPP and XLP

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. 

When Accolades Fade: Discovering True Worth Through Porphyria

By Mayra Martinez

"Porphyria forced me to sit still, to be present in a body that felt like it had betrayed me."

If you’re living with acute intermittent porphyria (AIP) or any form of porphyria, you already know this isn’t just a medical condition—it’s a life interruption. It’s the kind of illness that doesn’t just affect your body. It redefines your entire world. And for someone like me, who once thrived on performance and public recognition, that shift hit hard.

Before my diagnosis, I was a high-powered executive, always chasing the next achievement. Promotions, awards, praise—I lived for them. They made me feel seen, important, valuable. I measured my self-worth by how much I could do and how many people I could impress. 

Then AIP came into my life—and forced everything to stop.

Do you have a story to tell or an experience to share? Reach out to our community engagement team at info@porphyria.org to share your idea!

Your fellow porphyria patients share their best tips and tricks for making the most of summer holidays when you have a cutaneous porphyria.

For people living with cutaneous porphyrias, light exposure can trigger painful symptoms ranging from blistering skin to burning sensations. While each type has unique characteristics, they all require careful light management during travel.

We asked 4 experienced travelers with EPP to share their recommendations for

Transportation Tips

Navigating different modes of transportation requires special consideration. Candace Colbert (EPP) shares her proven methods:

"When flying, I always check the flight path and sun position to select seats on the shaded side of the plane. For road trips, I keep opaque blankets in the car to cover windows and don't hesitate to switch seats if the sun changes position - sometimes moving to the back seat makes all the difference."

Keep reading for tips and strategies on picking a destination, planning out your day, selecting sun safe clothing and more!

 Growing up having a younger sister with a rare disease has shaped me into the person I am today. I am so proud of my sister and I want to give back to those who helped her along her journey. - Kate

Hi! We are Kate and Morgan McKillop. We are two sisters dedicated to raising funds per mile this summer to promote awareness for porphyria and support those affected by it.

Our running journey is dedicated to raising awareness for porphyria, helping to educate others, and supporting those like Morgan who are living with this condition.

Learn more and donate at runfromsun.com and follow along on Kate and Morgan's journey on Instagram

Porphyria, that invisible public cage, failed to chain me—instead, it taught me to fly on my own purple wings. Wings that now stretch out to touch hearts, to remind the world that even from pain, hope can bloom.

Ten years ago, a sharp pain in my abdomen marked the beginning of a journey that would change my life forever. This was no passing discomfort—it was my body waging a war against time, a fire that spread relentlessly, weakening me until I lost control of my own limbs. Each new, inexplicable symptom felt like a cruel anatomy lesson, as if life itself were trying to escape my body.

I searched for answers but found only closed doors. Hospitals became mazes of misdiagnoses, where my pain was dismissed as imaginary—a cry for attention rather than the desperate plea for help that it was. Those who should have been my refuge doubted the reality of my suffering.

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.

Porphyria patients are at the center of all porphyria research! Your participation is essential to gaining a better understanding of porphyria, developing new treatments and improving diagnosis and care.

Survey Opportunity for Acute Hepatic Porphyrias (AIP, HCP & VP)

An interview study is underway to understand patient experiences with acute hepatic porphyria.

We are looking for individuals ages 15 and over in the United States or Canada who have acute hepatic porphyria (AHP).

As part of this study, you will complete a one-on-one approximately 90-minute telephone or videoconference interview scheduled at a time that works well for you, and you will later fill out three online questionnaires that take approximately

20 minutes to complete.

You will receive $150.00 USD or Canadian equivalent as compensation for your

time to participate.

Please note, you/your child may not be eligible for the study if you/your child: have taken

GIVLAARI (givosiran) or hemin prophylaxis within the past six months; reside in Alberta,

Saskatchewan or Newfoundland and Labrador; are between the ages of 15-17 and reside in

Quebec; or have certain medical conditions.

Phase 3 Clinical Trial of Bitopertin for EPP and XLP

Are you or your child 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.

Short-Term Clinical Trial Opportunity for Adults with EPP

The GATEWAY Phase 2 Study is enrolling adults with Erythropoietic Protoporphyria (EPP) to test a potential new treatment.

Some Details:

• The study takes place in Phoenix, Arizona
• Travel, hotel, and meals are covered for you (and a caregiver/travel partner, if wanted)
• US and international participants welcome
• 9 Days at the study site + travel days
• Compensation provided for your time

You may qualify if you:

• Are 18 or older with a confirmed EPP diagnosis (EPP only)
• Experience symptoms within 40 minutes of sun exposure (can be on an approved drug, cannot be in another clinical trial)
• Are a non-smoker
• Other inclusion/exclusion criteria will apply

To learn more: Reach out to us at info@porphyria.org.

Get involved in 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.

OR

contact UPA at 1-800-868-1292 or info@porphyria.org for more information

UPA at the Chan Zuckerberg Initiative Rare As One Science in Society Meeting

Kristen at the Rare As One Meeting

UPA President Kristen Wheeden and COO Liz Allan attended the Chan Zuckerberg Initiative’s Science in Society: Rare As One Network Meeting in Las Vegas. The event brought together more than 100 rare disease organizations committed to accelerating research through patient-led collaboration.

It was energizing to connect with fellow CZI-funded groups, share challenges, and exchange ideas around registries, biospecimens, research infrastructure, and global partnerships.

The meeting emphasized how patient-led organizations like UPA can drive meaningful change and how we are not alone in the effort to improve diagnosis, treatment, and care for rare diseases. Kristen and Liz returned with new ideas and partnerships that will strengthen UPA’s efforts in data sharing, research alignment, and community engagement, always keeping porphyria patients at the center!

Young Voices Shine at Disc Medicine Panel

Kristen with the panel

A group of remarkable young people living with Erythropoietic Protoporphyria (EPP) came together in Boston to share their stories as part of a powerful adolescent patient panel hosted by Disc Medicine, in collaboration with the United Porphyrias Association.

Moderated by UPA President Kristen Wheeden, this unique opportunity gave teens the chance to describe what living with EPP really feels like – from the physical pain to the emotional toll and daily decisions most people never have to consider.

Through guided conversations and individual interviews, the kids shared their truth with raw honesty and courage. One parent reflected, “Our kids' voices were heard and their condition spotlighted in such a way they will never forget. They will be their own biggest advocates because you paved the way.”

It was also a time of deep connection for our porphyria community. Families traveled from across the country to be together, to support one another, and to celebrate a rare and meaningful moment when industry, advocacy, and patient voices came together. Thanks to Disc Medicine and to every family who participated, the future of EPP treatment and awareness is brighter - and louder - because of your voices.

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.

Disc Medicine has launched PPIXiswhy.com an educational and awareness-raising resource about the protoporphyrias (EPP and XLP).

The site has information for US patients, including:

• The science behind porphyria
• Managing symptoms
• Creating a care plan

There is also a site for US health care professionals which includes information on diagnosis and testing, and diesase management.

Small Group Meetings

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.

Recently diagnosed? Connect one-on-one

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.

 Add United Porphyrias to your social media feeds. 

You made it to the end! 🎉

Thanks for making your way through June 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