January UPDATE

Dear Friend,

On January 26, UPA celebrates its third birthday! We’re incredibly proud of all we’ve accomplished and deeply grateful for every member of our porphyria community—you are the reason UPA exists. Your support and involvement inspire us every day, and we’re excited to continue working with and for you!

2025 promises to be our most ambitious year yet. Read on for a sneak peek at what’s ahead!

With gratitude,

The UPA Team

In 2025, we’re committed to expanding porphyria awareness, driving research and therapeutic advancements, and strengthening our community. Here’s a glimpse of what’s ahead:

Porphyria.org- Updated and customized to the porphyria journey!



Explore the all-new porphyria.org—redesigned with you in mind. Find the latest news and events, resources tailored to guide you through every step of your porphyria journey, and up-to-date information on diagnosis, treatment, and care. More stories, insights, and support coming soon!

Sun Escape Weekend: May 1-4

We're so excited to return for a weekend of ALL FUN and NO SUN in May! Together with Shadow Jumpers, our sister organization, we’re making this camp a life-changing experience for photosensitive kids and their families. Learn more at sunescape.org!

Global Porphyria Day: May 18

Join porphyria friends from around the world as we shine a spotlight on porphyria awareness! Get ready for an exciting lineup of ways to engage, including social media kits, a global social challenge, and interactive opportunities to make an impact. Stay tuned for more details on how you can be part of this movement!

International Porphyrias Symposium: October 9-12

UPA is working with the American Porphyria Expert Collaborative (APEX) to bring leading porphyria experts from across the U.S. and around the world together to share the latest advancements in research, diagnosis, and treatment, deepening our understanding of porphyria and its management.

Patient Day at IPS: October 11-12

Join us for a special event organized by UPA’s President’s Council of patients and caregivers. This unique gathering is designed by patients, for patients, offering a space to connect, share experiences, and learn from experts. Expect insightful discussions, practical resources, and a supportive community ready to empower and uplift each other. Stay tuned for more details!

Porphyria Voices is a new 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. 

How Positive Experiences Can Exacerbate Porphyria Pain

By Mayra Martinez

A few weeks ago, my husband Wilson and I celebrated our 25th wedding anniversary with a wedding vows renewal. While it was a fun and memorable celebration weekend, it left me feeling activated by the stress of it. 

Living with EPP: A Personal Experience

By Candace Colbert

Before I was diagnosed with Erythropoietic Protoporphyria (EPP), I remember a conversation with my neighbor that stuck with me. She once said, "I have never seen anyone washing windows in the rain." At the time, I thought it was funny, but it made me realize just how extreme my sun avoidance had become. Not only did I wash windows in the rain, but I also found myself doing simple errands wrapped up in layers of clothing to protect myself from the sun.  

Do you have a story to tell or an experience to share? Reach out to Katri at katri@porphyria.org to share your idea!

Treatments for Congenital Erythropoietic Porphyria

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

We keep hearing about new treatments for other types of porphyria, when will there be a treatment for CEP?

Today’s answer comes from Dr. Robert Desnick of the Icahn School of Medicine at Mount Sinai in New York.  Learn more about Dr. Denick in the Meet Your Porphyria Experts & Advocates below.

CEP is an ultra-rare erythropoietic porphyria and one of the most severe forms of porphyria. Exposure to sun can cause painful blisters that can become infected and lead to skin and bone loss.

Bone marrow transplants have been used to cure cases of CEP that are transfusion-dependent (where the patient requires a blood transfusion every 2-3 weeks). However, bone marrow transplants are not available to everyone with CEP as patients need a donor who is an excellent match, and only patients who are transfusion-dependent are candidates for transplantation.

Our colleagues in Spain have developed a treatment for CEP and this therapy has worked on a mouse CEP model. We are now planning an FDA-approved trial for this treatment and will be recruiting adult patients. In this trial, all patients will receive the medication. It is an oral drug that is taken daily. Adults in the United States and Canada with CEP may be eligible to participate.

You can contact the United Porphyrias Association at info@porphyria.org or 1-800-868-1292 to learn more about the upcoming trial.

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

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 Robert Desnick, MD, PhD, Porphyria Expert

"The Porphyrias Consortium allowed us to train the next generation of porphyria experts. We’ve worked so well together to carry out basic and clinical research, including multiple clinical treatment trials, that we wanted to continue our excellent collaborations and research."

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

My name is Robert Desnick and I’m an MD PhD medical geneticist at the Icahn School of Medicine at Mount Sinai in New York City. My research focuses on inherited metabolic diseases, particularly their prevention, early diagnosis and treatment. I've developed diagnostics and therapeutics for several different diseases, including the porphyrias and the drugs our group developed are FDA-approved and available worldwide.

I am the Principal Investigator (PI) of the NIH-supported Porphyrias Consortium and the President of the American Porphyria Expert Collaborative (APEX). I am currently a Professor of Genetics and Genomic Sciences, the Dean of Genetic and Genomic Medicine Emeritus, and the Inaugural Chair of the Department of Genetics, Genetics and Genomic Sciences at Mount Sinai, where I've been since 1977. 

Huge thank you to Dr. Rebecca Karp Leaf, a leading porphyria specialist at the Porphyria Center at Massachusetts General Hospital (MGH), for taking our questions.

We covered topics such as the role of hormones in porphyria, birth control options, in vitro fertilization and more!

Watch for more webinars throughout the year!

Rare Disease Day takes place worldwide on the last day of February each year, to raise awareness among policymakers and the public about rare diseases and their impact on patients' lives.

With just over a month to go, check out the campaign materials and toolkits or find an event near you!

Here are some of the places UPA is participating in Rare Disease Day! You're also invited to:

Rare Disease Day at the FDA and NIH

FDA-NIH Rare Disease Day 2025 will be held at NIH Main Campus and virtually on Thursday, Feb. 27, 2025, and Friday Feb. 28, 2025, from 10 a.m. to 4 p.m. EST.

The event will feature panel discussions, rare diseases stories, in-person exhibitors and scientific posters, and an art exhibition. The event is free and open to the public.

Rare Disease Day at John Hopkins

Visit John Hopkins, East Baltimore Campus on Friday, February 28. Stop by the UPA table, attend a panel on rare disease and precision medicine and enjoy some light snacks and activities.

The United Porphyrias Association (UPA) is seeking a part-time Legislative Advocacy Manager to lead and coordinate legislative and policy initiatives related to the porphyrias and the broader rare disease community. This role will focus on fostering partnerships, engaging stakeholders, and advancing policy priorities.

Do you have experience with legislative advocacy, nonprofit work, healthcare, or rare disease policy, and strong communication and interpersonal skills? Learn more about this important position.

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.

UPA invites you to share your porphyria story.

Your story has the power to:

• Create a sense of belonging and mutual support within the porphyria community
• Raise awareness and understanding of porphyria among healthcare providers and the public
• Reduce feelings of isolation and challenge the stigma often associated with a porphyria diagnosis
• Offer hope, guidance and inspiration who may be facing similar challenges

We’re here to support you in telling your story, in your own voice. Stories will be featured on UPA’s social media channels, website, and in our newsletter.

Interested in sharing? Please fill out this form, and our Community Engagement Team will connect with you.

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.

 Add United Porphyrias INSTA, FACEBOOK, TWITTER to your social media feeds.