Summer UPDATE

Dear Friend,

Something powerful happens when our Porphyria Family - affectionately known as our “Porphamily” - comes together. Born from the spirit of several meetings, this sense of connection continues to grow. We invite you to join us at upcoming events, both online and in person, to stay connected, supported, and inspired.

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

• You're invited! Coming together for an afternoon of laughter and fun online at Porphyria Palooza Reunion
• Join us in person! Join us at the Patient & Family Weekend in October
• Connect UP- meet others who understand what you're going through
• New! Resources to share with your health care provider
• New research-the impacts of a delayed diagnosis
• Using AI to diagnose porphyria- UPA participating in new initiative
• How we help- supporting the parents of a baby recently diagnosed with CEP
• ...and more!

July 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

You’re invited to the Porphyria Palooza Reunion- a fun-filled virtual gathering for the porphyria community where you can come together to connect, laugh and play!  

After the life-changing experience of the first Porphyria Palooza in September 2024, we’re excited to invite you to the Palooza Reunion!

We’ll be taking Palooza online for a virtual event, with game master John Grindle from Grin Events who is known for turning virtual events into unforgettable experiences!  

What to expect

• A space to be yourself, relax, and enjoy quality time with your community. 
• Fun and interactive games: 

 🎯 Music and movie trivia 

 🧠 Word and phrase guessing 

 🎉Surprise challenges to keep everyone engaged and laughing 

• Laughter, good vibes, and that “porphamily” feeling you love.

Whether you’ve been living with porphyria for years or just found your way to our community, this event is for YOU. It’s a chance to celebrate life, resilience, and the power of coming together - no matter where you are in the world.  

Bring your energy, your game face, and your smile. 

Let’s make memories together — Porphyria Palooza style. 

Date: Saturday, August 16

Time: 3:00 to 5:00 PM ET (find your local time here)

Location: Zoom- register for link!

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!

We're shaking things up with Connect UP! Join us at the same time every month for a peer-led discussion on topics that are important to you.

Acute Porphyrias- 1st Saturday of the month

Next meeting: Saturday, August 2 at 1 PM ET

Mayra and Katri, our dynamic community engagement team, will be co-hosting a relaxed and friendly chat for people living with acute porphyria. Bring your questions, your doubts, your experiences — whether it’s about insomnia, attacks, or anything in between 💬💜

Cutaneous Porphyrias- 1st Sunday of the month

Next meeting: Sunday, August 3 at 3PM ET

Join us for a casual, supportive Zoom chat about navigating summer while staying safe. Bring your questions, tips, or just come listen. Hosted by Candace.

To join Connect UP meetings sign up and then watch your inbox for the invite!

Encourage your care team to attend the International Porphyrias Symposium

The International Porphyrias Sympsosium 2025, October 9-12 in Arlington, VA will kick off with a half-day Introduction to Porphyrias course, followed by an in-depth look at the latest research and information on the treatment and management of porphyria.

Help us spread the word! Share this promotional flyer with your care team. Together we can increase the awareness and knowledge of porphyria among doctors and other health professionals.

Diagnosing EPP and XLP online course available for Continuing Medical Education (CME)

A program to help physicians recognize and diagnose EPP and XLP was released in June. The course features Scientific Advisory Board member Dr. Amy Dickey, dermatologist Sarina Elmariah of UCSF, and UPA President’s Council member Ginger Gonsalves.

The program is eligible for CME credits and covers the following topics:

• The cause and symptoms EPP and XLP
• The mental and physical health impacts of EPP and XLP
•  Guidance for the diagnosis of EPP & XLP

Other online courses available for health care providers

• Acute Hepatic Porphyria: Expert Guidance on Diagnosis and Management with Dr. Rebecca Karp Leaf and Dr. Bruce Wang.

• Multidisciplinary Management of Acute Hepatic Porphyria with Dr. Amy Dickey, Dr. Rebecca Karp Leaf and Dr. Herbert Bonkovsky

• Erythropoietic Protoporphyria (EPP): Phototoxic, light-triggered reactions and systemic complications associated with accumulation of PPIX with Dr. Bruce Wang and Dr. Gayle Ross

UPA selected for on initiative between Stanford Medicine and the Chan Zuckerberg Initiative

As too many of us have experienced, a porphyria diagnosis can take years or even decades. After a competitive process, UPA has been selected to participate in an initiative to improve rare disease diagnosis by developing AI-driven screening tools and reduce the time to diagnosis.

The initiative is a partnership between the Chan Zuckerberg Initiative and Stanford Medicine, and has three phases. In the first year, it will use a small set of data to develop a model. In the second year, we plan to do further testing of the model and development on nationwide data. In the third year, the project will develop a screening tool and will work with porphyria experts and use nationwide data to test its effectiveness for identifying undiagnosed porphyria patients. We look forward to sharing updates with you as this initiative progresses.

UPA is proud to be leading the way alongside brilliant partners in building a lasting framework to advance the future of porphyria diagnosis and care!

Meet Victor, EPP Advocate and Mentor

Living with a rare disease is not just about survival—it’s about building something better for those who come next.

At just six years old, Victor A. Mejías received a diagnosis that would shape the course of his life: Erythropoietic Protoporphyria (EPP), one of the cutaneous forms of porphyria. What most people consider a normal part of life—sunlight—is something Victor has had to avoid his entire life. The sun, for him, is not warmth or joy. It’s pain. And that pain has changed everything.

“Porphyria has not allowed me to follow my dreams and do the things I want to do,” Victor shares. “I wish people understood our pain and day-to-day struggles, and the help we need to do simple tasks.”

Meet Jagruti, Co-founder of the Indian Porphyria Association

"Porphyria didn’t just affect my body. It tried to steal my identity. But I refused to let it win."

My journey with porphyria began early—I was just 10 years old when I was diagnosed with Acute Intermittent Porphyria (AIP). Before that, my childhood was filled with unexplained pain, dark urine, severe stomach cramps, vomiting, and weakness that no child should have to endure. 

Doctors couldn’t understand what was wrong. I was dismissed, misdiagnosed, and constantly told, “it’s just stress” or “it’s all in your head” But even as a child, I knew something wasn’t right. 

Getting the diagnosis at 10 finally gave my symptoms a name. But it didn’t make life easier. If anything, it made the reality more daunting.

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.

When their two month old son Logan was diagnosed with Congenital Erythropoietic Porphyria (CEP), new parents Oscarlys and Arturo reached out to the United Porphyrias Association. We were able to share important information to help them understand CEP and stay safe from lights. To help protect Logan from the sun, the UPA along with our sister organization, Shadow Jumpers, provided the family with sun-safe clothing, a protective stroller, blackout curtains and a UV umbrella.

We’re looking forward to seeing the whole family at the Patient & Family Conference in October. Thanks to your donations on Global Porphyria Day, we can support them to travel to the gathering and meet their community in person! Your donations impact families💜

Newly published research shines a light on the impact of a delayed diagnosis on patients with EPP.

The survey of 35 patients found that 80% experienced a delay of a year or more, with several reporting delays of a decade or more. The severity of EPP did not lead to a faster diagnosis.

The study found that longer diagnosis had a negative impact on patients' lives including increased feelings of isolation, anxiety and a sense of missing out on life goals.

This research highlights the importance of increasing physician awareness of EPP and improving access to appropriate testing.

Disc Medicine issued a press release on July 21, announcing a positive meeting with the FDA regarding it’s pre-New Drug Application for bitopertin to treat EPP and XLP. Disc plans on submitting bitopertin to the FDA for review in October 2025.

Having multiple treatment options available for patients with EPP/XLP is an exciting development for our community!

Bitopertin is currently in phase three trials. Learn more about participating here.

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

At the beginning of July the Orphan Cures Act became law. This groundbreaking legislation makes it easier to study and develop treatments for rare diseases by allowing more flexibility in the use of data from previous clinical trials. That means faster progress and the possibility of more treatments becoming available for rare diseases.

The rare disease community, including UPA, has been advocating for these changes for years. It was an honor to be part of the Save Rare Diseases Taskforce and we are thrilled this at the doors this legislation opens for better research and future treatments. Let’s celebrate this win together and continue raising our voices!

Learn more about the Orphan Cures Act.

Teens with EPP shed light on what it’s like living with porphyria

In her latest column for Porphyria News, UPA President Kristen Wheeden reflects the power of bringing people together to share and advocate.

Sometimes in patient advocacy, a great event means planning everything down to the minute: logistics, panel preparations, seating charts, and more. At other times, I find myself backstage with seven teenagers and wonder, “What was I thinking?”

Last month, something truly special happened in Boston. A group of extraordinary young people living with erythropoietic protoporphyria (EPP) came together to share their stories during an adolescent patient panel hosted by Disc Medicine in collaboration with the United Porphyrias Association, where I serve as president.

As a mom of a young adult with EPP, I’ve been through the awkward teen years with a child navigating a painful, invisible disease. I’ve seen the missed moments, the quiet strength (read: grunts of “I don’t want to talk”), and the growing confidence that comes from finally finding your people. And I’ve learned that when kids with EPP get in a room together, something powerful happens.

This time, it worked out like magic.

Did you know there is an online community of 2,000+ people impacted by porphyria for you to connect with?

UPA's Porphyria Together Facebook Group is a active and growing space for patients and families to connect, ask questions and support. each other.

The group also hosts live Q&A's with porphyria experts and provides opportunities for you to shape the resources that UPA offers to you!

 Add United Porphyrias to your social media feeds. 

You made it to the end! 🎉

Thanks for making your way through July 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