April UPDATE

Dear Friend,

UPA is gearing up for an exciting month full of opportunities to connect, learn, and raise awareness together!

We’re kicking things off with Sun Escape 2025 - a weekend of fun (and no sun!) designed for kids and families. Then, on May 18th, we’ll be joining our porphyria friends around the globe to celebrate Global Porphyria Day and shine a light on our community.

There’s so much happening, and we can’t wait for you to be part of it! Here are highlights of what you’ll find in this month’s resource-packed newsletter:



• Global Porphyria Day – How you can participate
• Upcoming Q&A with Dr. Bruce Wang
• What’s UP Doc? – Spotlight on Panhematin
• Meet Lina – Our Porphyria Community Builder
• Summing UP – Living with Liver Disease and EPP
• Patient and Family Conference – Coming together in community
• International Porphyrias Symposium – Advances in research and care
• Exciting Partnership with Porphyria News
• Advocacy Updates – Fighting for rare disease treatments



Scroll down to get all the details and see how you can get involved.

Warmly,

The UPA Team

Global Porphyria Day is 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. 

Here are some of the ways you can get involved:

Join the #RealPeopleRealPain Challenge

This year UPA is focusing on the painful realities of porphyria. Help others understand the pain by participating in the #RealPeopleRealPain Challenge. You can participate by:

• Recording and posting your challenge video
• Sharing porphyria descriptions and graphics that resonate with you
• Challenging your porphyria friends to do the same

Turn Purple for Porphyria

On May 18th, join UPA and our porphyria friends from around the world to raise porphyria awareness by turning the world #PurpleforPorphyria!

• Order and wear your free purple awareness ribbon. UPA will mail you ribbons at no cost.
• Wear purple and encourage your friends to wear purple too!
• Light or decorate your home in purple
• Share your purple on social media with the hashtag #PurpleforPorphyria

Help spread the word about porphyria

Like, comment on and share Global Porphyria Day posts that speak to you!

Be sure to follow United Porphyrias to get all the latest!

Thank you to our Global Porphyria Day Sponsor!

Facebook Live Q&A with Dr. Bruce Wang

To help kick off Global Porphyria Day, Dr. Bruce Wang, Porphyria Expert at UCSF, will be joining us live on Facebook to answer your porphyria questions.

• Date: Saturday, May 17, 2025
• Time: 12:30pm ET (find your local time)
• Where? Porphyria Together Facebook Group

Have a question but not sure you can make it? Email info@porphyria.org!

Reconstitute Panhematin with Albumin for Best Stability and to Prevent Complications (in US)

Each month we have a member of UPA's Scientific Advisory Board answer a question submitted by you- the members of our porphyria community.

Today’s answer comes from Dr. Karl Anderson of University of Texas Medical Branch in Galveston, TX and Dr. Herbert Bonkovsky at Atrium Health Wake Forest Baptist in North Carolina.

Is there a way to make hemin infusions more comfortable?

Hemin is used to treat or prevent acute attacks of the hepatic porphyrias, AIP, HCP, VP and ADP. Administration of hemin can cause inflammation and pain where it is being infused and increase the risk of blood clots. The way that hemin is prepared and delivered can reduce the risk of side effects like clotting and inflammation. 

Hemin is available in the US and some other countries as heme hydroxide, also known as hematin (Panhematin™, Recordati Rare Diseases), and is provided in a vial as a lyophilized (freeze-dried) powder that needs to be reconstituted into a liquid solution before infusion.  

The FDA-approved method for reconstituting Panhematin, as described in the package insert that comes with the treatment, is to add sterile water to the vial before it is infused by vein. Experience has found that hematin is unstable after dilution with water, and degrades relatively quickly into products that bind to veins and clotting factors, causing inflammation- especially if the infusion is into a small vein.... keep reading

Thank you to Dr. Anderson and Dr. Bonkovsky for this What's UP Doc? answer! Do you have a question for a porphyria expert? Send it to info@porphyria.org.

A heartfelt thank you to Dr. Amy Dickey, Porphyria expert at Massachusetts General Hospital in Boston, MA, and Ginger Gonsalves, UPA President’s Council member, for leading such an engaging conversation and thoughtfully answering our community’s questions!

Check out the recording to learn more about:

• The types of light that trigger reactions
• How to tell if a sunscreen or item of clothing can help protect you

The porphyria community is so fortunate to have passionate researchers, physicians and advocates who work alongside us to make a better future for porphyria!

In this feature, we’ll dive into conversations with porphyria experts and advocates to explore their work, groundbreaking research, emerging treatments, and more!

Meet Lina Rebeiz, Porphyria Community Builder

"Things are so different once you meet other patients with porphyria"

Can you introduce yourself and tell us a bit about your connection to porphyria.

My name is Lina Rebeiz and I have acute intermittent porphyria (AIP).

I was diagnosed when I was a freshman in college. I had a very classic AIP presentation- lots of abdominal pain. Initially the doctors ignored me. I was a young female, so of course they said it was anxiety. They sent me home and a few months later I had seizures. I was admitted and my parents, who are both physicians, put a lot of pressure on my doctors to figure it out. Without my parents I am certain I would not have made it out of that.

I was diagnosed in 2014 and since then I’ve been involved as I can be. I’ve worked in porphyria research, hosted support groups and am now the Chair of the UPA’s President’s Council.

"Self-Reported Liver Disease and the Burden of Erythropoietic Protoporphyria"

Published in JIMD Reports

April 2025

This study explored how liver disease affects individuals with EPP by comparing the experiences of those with and without liver involvement.

Using questionnaire responses, researchers examined differences in phototoxic symptoms, health-related quality of life, and healthcare utilization (HCU) between individuals with and without self-reported liver disease.

The study was supported by Disc Medicine, and led by senior authors Dr. Hetanshi Naik and Dr. Manisha Balwani of the UPA Scientific Advisory Board. All participants were recruited through United Porphyrias Association- thank you to everyone who took part in this important research!

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.

Hannah was diagnosed with acute intermittent porphyria (AIP), a type of acute hepatic porphyria (AHP), when she was a junior in college. Like so many others, her path to diagnosis was anything but straightforward. After months without answers, Hannah’s mind and body fell out of sync, and she could no longer participate in her favorite form of artistic expression: dance. Eventually, after receiving a diagnosis of AIP while on a trip to London, Hannah was able to begin a disease management plan.

Today, Hannah is back on the stage, sharing her AHP story through dance as part of an Alnylam-sponsored initiative. 

Watch her performance and learn more about her story here.

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

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

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

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!

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!

UPA and Porphyria News are partnering to help spread awareness of porphyria! Porphyria News curates a selection of trusted and relevant top news stories for the Porphyria community and features columns from porphyria community members.

Check out some of their latest columns:

What does raising a child with a rare disease look like?

By Kristen Wheeden

Everyone seems so very excited for spring. The birds are chirping, tree buds are sprouting, and the sun hangs hotter and higher in the sky for longer stretches each day.

Well, almost everyone. Right on cue, this is when Shadow Jumpers — as we lovingly call our people living with erythropoietic protoporphyria (EPP) — must make extra efforts to dodge the sun. The launch of spring has them bracing for the inevitable pain they’ll experience.

Discovering my porphyria triggers was a long journey

By Kalyn Shelton

My arm was laid out to the side as my then fiancé and now husband, Daniel, held my hand. “Are you ready?” my doctor asked before sticking the numbing needle in my arm. “Yes,” I replied while clenching Daniel’s hand.

Seconds later, she was numbing my left bicep and preparing to insert into my arm a birth control implant called Nexplanon (etonogestrel implant). Typically, Nexplanon remains implanted for three years and is then removed or replaced.

Discover GIVLAARI is an educational event presented by an Alnylam Patient Education Liaison (PEL), that will help you better understand acute hepatic porphyria (AHP- includes AIP, HCP, VP) and how GIVLAARI may help.

Learn about how patients prescribed GIVLAARI get started and hear from a patient who is taking GIVLAARI.

Newport News, VA on April 26th, 2025

Host/PEL & Patient: Lara Hervias & Donna

12:30 – 2:30 PM ET

Saté (694 Town Center Drive, Newport News, VA 23606)

Lafayette, LA on May 13th, 2025

Host/PEL & Patient: Kim Bischel & Hannah

6:00 – 8:00 PM CT

Ruth's Chris Steak House (620 West Pinhook Road, Lafayette, LA 70503)

Atlanta, GA on June 21st, 2025

Host/PEL & Patient: Kim Bischel & Hannah

12:00 – 2:00 PM ET

Old Vinings Inn (3011 Paces Mill Road SE, Atlanta, GA 30339)

With heavy hearts, we share that Lou Varvarezis passed away on April 8, 2025, due to complications from porphyria. He was 54.

Lou was a beloved pharmacist, husband, and passionate astronomer whose humor, love of music, and curiosity about the stars lit up the lives of those around him. He found joy in helping others explore the night sky and sharing his passions with everyone he met.

Last October, Lou found his porphyria family at Porphyria Palooza, where he made lasting connections and left a lasting impression.

He will be deeply missed by his loved ones and the porphyria community. In his honor, we invite you to do something he loved: fire up the grill, play some Rush, and look up at the stars.

“Perhaps they are not stars in the sky, but rather openings in heaven where our loved ones shine down to let us know they are always with us.”

Shine brightly, Lou.

UPA joins the Save Rare Treatments Task Force to advocate for passing the ORPHAN Cures Act

We’re working with the Save Rare Treatments Task Force to advocate for the ORPHAN Cures Act (H.R. 946), which was recently reintroduced in the 119th Congress. This bill aims to accelerate the development of treatments for rare diseases by addressing this key barrier to innovation. Specifically, it would ensure that drugs used to treat one or more rare diseases will not be subject to negotiation under the Inflation Reduction Act and clarify the timeline used to determine when an orphan drug may become eligible for negotiation, which would help incentivize ongoing research and ensure continued access to vital therapies.

Without the ORPHAN Cures Act, rare disease research could be deprioritized, limiting access to the life-saving treatments that so many in our rare disease community desperately need. We are actively working to support this important legislation.

Learn more about the issue and find out how you can get involved at saveraretreatments.org.

UPA at the Global Skin Conference, April 24-27

UPA Team Members Kristen Wheeden and Liz Allan joined patient advocates from around the world to strengthen advocacy networks and discuss the challenges faced by patients and caregivers of skin-related conditions.

Liz Allan, UPA's Chief Operating Officer, spoke on Caring for the Mental Health Burden of Skin Disease. Mental health is an important part of overall health and well-being, and a priority area for United Porphyrias Association.

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.

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

If so, an exciting new 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
• Sites open to enrollment soon
• 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 INSTA, FACEBOOK, TWITTER to your social media feeds. 

You made it to the end- you did it!!

Thanks for sticking with us through this jam-packed newsletter. Be sure to click all the buttons and links above to explore resources, get involved, and stay connected.

As always, we’re here for you — cheering you on and walking beside you every step of the way.

With gratitude,

The UPA Team