March UPDATE

Dear Friend

With the days getting longer and the sun getting stronger, spring can be a difficult time of year for many in our community. You aren't alone though! Read on to learn more about upcoming opportunities to connect, new resources, patient stories:

• Upcoming Porphyria Patient & Family Conference details
• Updates for Phase 3 EPP/XLP clinical trials
• Upcoming webinars
• Recording: Acute Hepatic Porphyria Treatments webinar
• CEP Patient Story
• Do porphyrins fluoresce? A Porphyria Expert answers your questions
• Meet the UPA's new Legislative Advocacy Manager
• Applications open for HeatlhWell's Porphyria Fund
• EPP & XLP Caregivers input needed for new handbook
• Nutrition resources
• UPA in the Community

-The UPA team

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

I felt like a missing puzzle piece who had found its puzzle.- Larissa

I have never felt so understood in my life.

I have found my people. -Ginger

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:

• Q&A with porphyria experts
• Interactive sessions on the day-to-day realities of porphyria
• A Saturday night dance party!
• 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!

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.

A huge thank you to everyone who participated in the Phase 3 INSPIRE Study for EPP & XLP!

Participation in research and clinical trials is essential to developing treatments for our community. Thank you to everyone who participated, you are helping to create a world free from the pain and challenges of porphyria.

Thank you 💜

Light Protection & Cutaneous Porphyrias

Saturday, April 12

Join Dr. Amy Dickey and fellow porphyria patient Ginger Gonsalves for a deep dive into living a full life while protecting yourself from the sun! Webinar will include:

• Understanding what types of light can trigger a porphyria reaction
• Protective options: sun clothing, window tinting, sunscreens
• Special circumstances: visiting the dentist, getting surgery, going on vacation
• Tips and tricks 

Date: Saturday, April 12, 2025

Time: 1:00-2:00 pm ET (find your local time)

Location: Zoom- register for link

Information discussed will be applicable to all types of light-sensitive porphyrias: CEP, EPP, HEP, HCP, PCT, VP and XLP.

Facebook Live Q&A with Dr. Bruce Wang

Saturday, May 17

In anticipation of Global Porphyria Day, Dr. Bruce Wang, Porphyria Expert at UCSF, will be joining us live on our Porphyria Together Facebook Group to answer your porphyria questions on May 17, 2025.

Join the group and get your questions ready!

Huge thank you to Dr. Sioban Keel, a leading porphyria specialist at the Fred Hutchison Cancer Center in Seattle, WA, for taking our questions!

Check out the recording to learn more about:

• Determining which treatment(s) for acute hepatic porphyrias (AIP, HCP, VP) might be right for you
• How the treatments work, their benefits and side effects
• ...and so much more!

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. 

Porphyria is a part of your story, but it’s not ~the~ story.

Living in the Shadows: Elsie’s Journey with Congenital Erythropoietic Porphyria

By Elsie Pultz

There are many places one might expect to be diagnosed with congenital erythropoietic porphyria (CEP). A state-of-the-art research hospital. A medical drama where the brilliant but emotionally stunted doctor has a sudden moment of clarity. A cursed manuscript.

Arizona, however, is not one of those places.

And yet, that’s where my journey began—right in the middle of a state where the sun operates at full intensity year-round. Not exactly the ideal location for someone whose skin reacts to daylight like it’s personally offended by its existence.

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

Fluorescence and Porphyrins

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. John Phillips of University of Utah School of Medicine in Salt Lake City.

Does porphyrin in stool fluoresce under Ultraviolet (UV)/Wood's lamp? 

The short answer is yes, porphyrin in stool will fluoresce under a Wood's lamp (UV light).

Fluorescence is a phenomenon where a material will absorb a certain wavelength of light and then emit light at a different wavelength. In a dark room you can see the light being emitted. 

Because of their molecular structure, porphyrins fluoresce. They absorb light with a wavelength of about 400 nm (violet) and emit light in the 600nm range (orange/pink).

(Right) Porphyrins fluoresce pink under UV

Photo credit: Veasey et al. 2017

The fluorescent properties of porphyrins* are used in some lab tests to differentiate between types of porphyria, because different porphyrins will emit slightly different wavelengths of light, which can be measured with a spectrophotometer. For example, plasma porphyrins in variegate porphyria (VP) emit light around 626nm compared to 615-620nm in porphyria cutanea tarda (PCT). 

Porphyrins in samples of urine, stool and plasma fluoresce. However fluorescence on it’s own isn’t enough to diagnosis porphyria. Other measurement methods are used to determine the concentrations of porphyrins and porphyrin precursors and establish a porphyria diagnosis. 

*NOTE: The term “porphyrin” refers to a type of molecule with a specific structure. ALA and PBG, which accumulate in the acute hepatic porphyrias (AIP, HCP and VP), are not porphyrins, and do not fluoresce.

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

As a parent of a child with EPP, I know firsthand the isolation and uncertainty that can come with managing a rare disease.

Hi, I'm Aly! I’m excited to be joining the UPA team as the Legislative Advocacy Manager. In this role I’ll be leading advocacy initiatives for the porphyrias and rare diseases. 

I'm honored to be part of the porphyria community. My 6 year-old daughter has Erythropoietic Protoporphyria (EPP), and navigating her diagnosis and treatment has been both challenging and eye-opening. Professionally, I work in international compliance in healthcare and health policy. 

As a parent of a child with EPP, I know firsthand the isolation and uncertainty that can come with managing a rare disease. Advocacy is essential because it helps bridge the gaps in knowledge, provides critical support for families, and pushes for advancements in treatment and care. I truly believe that by coming together, we can create a more informed and supportive environment for everyone affected by porphyria. 

The HealthWell Foundation's Porphyria Fund is now accepting applications. Grants of up to $4,000 are available to assist with the costs of prescription drugs used to treat porphyria.

Basic eligibility requirements:

• You are being treated for porphyria.
• You have insurance and it covers your medication.
• Your income falls within our guidelines.
• You are receiving treatment in the United States.

Learn more about the Porphyrias fund, eligibility requirements and how to apply at the HealthWell Foundation website.

Help create a handbook for fellow parents and caregivers

We are excited to share a new project, in partnership with Stanford University and Shadow Jumpers, dedicated to understanding the experiences of parents of children with EPP.

If you are a parent of a child with EPP (any age and anywhere) we would appreciate your participation in a brief 10–15-minute survey where you can share your experiences. Your input will play a crucial role in helping future parents gain valuable guidance. The information will be used to develop a handbook to help assist other parents who are navigating similar experiences.

The survey is completely voluntary and anonymous. If you would be willing to participate, simply click here.

If you have any questions or would like more information about the project, please contact Hetanshi Naik (naikh@stanford.edu) or Craig Leppert (craig@shadowjumpers.org).

What you eat and drink can be an important part of managing your porphyria, particularly if you have an acute hepatic porphyria like AIP, VP or HCP. In honor of Nutrition Month, here are some resources on nutrition and porphyria:

Recording of Nutrition & Lifestyle Webinar from July 2024

Nutritionist and fellow porphyria patient, Isabel Palazon provides an in-depth look at the your body's nutritional needs in general and when you are experiencing attack symptoms.

Printable Nutrition Guide

This printable guide provides:

• Nutrition recommendations foreach type of porphyria
• Recommendations for vitamins and supplements
• Sample meal plans
• ...and more!

UPA attends the American Association of Dermatology Annual Meeting

UPA team members Kristen Wheeden and Liz Allan attended the American Association of Dermatology's Annual Meeting in Orlando, FL. In addition to raising awareness of porphyria at the main meeting, this event provided opportunities:

• Connect with the dermatology patient community at a workshop of the Coalition of Skin Diseases
• Attend special meetings for photodermatology (light-sensitivity) and psychodermatology (mental health and skin)
• Discuss access to services in rural areas
• Connect with rare disease partners and industry supporters.

UPA Presents at the Haystack Project's Scientific Meeting

UPA Scientific Advisory Board Member Dr. Amy Dickey and UPA President Kristen Wheeden spoke at the Haystack Project's Scientific Workshop on March 12 about the challenges of measuring the impact of treatments for EPP and XLP in clinical trials.

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.

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!

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.