February UPDATE

Dear Friend,

The last day of February is Rare Disease Day, when we join with our colleagues and friends in the rare disease community to shine a light on the challenges and struggles facing rare diseases.

Our porphyria community shares many of the same challenges as other rare diseases including long delays in diagnosis, difficultly accessing appropriate treatment and specialist care.

Here are three easy ways you can get involved in Rare Disease Day:

1. Sign the petition urging Congress to protect funding and leadership for biomedical research and public health programs.
2. Check out an event near you.
3. Like, comment on and share UPA social media posts or create your own with the hashtags #RareDiseaseDay and #ShowYourStripes.

UPA is here to advocate and support our community year-round. Read on to learn more about upcoming events, new resources and more!

-The UPA Team

Treatment Options & Acute Hepatic Porphyrias

Saturday, March 22

Join Dr. Sioban Keel and fellow porphyria patient Mayra Martinez for an overview of treatment options available for the acute hepatic porphyrias, including:

• Approved treatments for acute porphyrias, their intended use and considerations to discuss with your doctor
• Recommendations for managing symptoms

The presentation will be followed by a Q&A. Information discussed will be applicable to all types of acute hepatic porphyrias: AIP, HCP, VP and ADP.

Date: Saturday, March 22, 2025

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

Location: Zoom- register for link

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!

The American Porphyria Expert Collaborative (APEX) has issued a statement advocating for consistent and accessible porphyria testing to be available nationwide.

Porphyria biochemical testing in the U.S. varies across different laboratories making porphyria diagnosis and treatment more challenging, and creating disparities in access for different regions.

The experts provide a list of key porphyria tests they recommend be made available across laboratories to ensure accurate diagnosis, better treatment monitoring, and consistent care.

Newly published research from the Porphyrias Consortium provides much needed information on the prevalence and nature of liver complications related to EPP and XLP.

Using patient data collected from 322 EPP & XLP patients as part of the Longitudinal Study of the Porphyrias, researchers found that liver abnormalities were common, though usually mild. However there were risks of more serious complications. Therefore it is important to develop methods to identify at-risk patients early.

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. 

This month in Porphyria Voices, Jasmine shares her experience of caring for her mother, Mayra, who has AIP.

Understanding the Emotional Toll of Being a Caregiver for a Loved One with Porphyria

By Jasmine Martinez

For me, it all began when I was just 14. My once vibrant, unstoppable mother—full of energy at 35—suddenly slipped from life as I knew it, and into a stark, unfamiliar reality. The diagnosis of Porphyria, a rare and debilitating illness, shattered everything. Watching her transform from a strong, spirited woman to someone lying on a hospital bed was a pain I couldn’t have prepared for. That moment changed me forever, altering not only my relationship with her but my entire perception of life and what it means to care for someone you love when everything feels out of your control.

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

As Jasmine's story shows, when someone has porphyria, their loved ones also have to live with the disease. You become an expert on your loved one's condition and their advocate in the health care system, assist with daily or nursing tasks, provide emotional and financial support, and so much more. It can be frustrating, exhausting and heart breaking. It can take a toll on your own mental and physical health.

You aren't alone on this journey, UPA is here for you. Please reach out to us at info@porphyria.org or 800-868-1292, or check out the caregiver resources on our website.

To everyone in our community who is providing care- thank you. You make all the difference in our lives 💜

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).

We are thrilled to have a place to share your stories on our website!

Porphyria is so much more than a list of symptoms, and hearing from patients and caregivers is key to helping others, including doctors, employers, family and friends to understand the realities of living with porphyria.

Check out the Our Stories page!

Meet Elizabeth, AIP Warrior

Living with porphyria is truly like living a double life. I love music, dogs, and the outdoors. Since 2019, I have had to get to know a new part of myself, the other me.

It started with extreme tachycardia that woke me in the night and sent me to the hospital. I saw a half dozen specialists and had a cardiac ablation before finding out 2 years later I had inherited Acute Intermittent Porphyria. By then, my symptoms had snowballed and I experienced episodes of confusion, anxiety/racing thoughts, tachycardia, seizure-like tremors, motor weakness, severe pain and nausea...keep reading

Want to share your story? Please fill out this form, and our Community Engagement Team will connect with you.

UPA President Kristen Wheeden speaking at Rally for Rare Disease Day

Following the postponement of the planned NIH-FDA Rare Disease Day meeting, an alternate event has been planned for the Rare Disease community.

Learn more about the event.

UPA Presenting at the Haystack Project's Scientific Meeting

UPA Scientific Advisory Board Member Dr. Amy Dickey and UPA President Kristen Wheeden will be speaking 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.

UPA at 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.

Learn more about this event.

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!

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!

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.