February UPDATE

Dear Friend,

The last day of February is Rare Disease Day, when we join our colleagues and friends to raise awareness of the realities of living with a rare disease. This month has been a reminder both of the challenges facing our community and the joys of connecting with others who truly understand what you're going through. Read on for:

• Show your stripes for Rare Disease Day: What's going on and get involved
• What's Next for Bitopertin: Community call recording and next steps
• New Webinar: Living in the Light with EPP & XLP
• An Expert Answers Your Question: Genetic testing and porphyria
• Webinar Recordings Available: Drug Safety and Neuropathy Q&A
• Connect UP: March meeting schedule now available
• Porphyria Everywhere: Craig in people magazine, Becky and Ginger on Boston 25 and Justin goes viral
• Meet Geoff and Kasey: Two new porphyria stories
• CEP meeting: Reporting back from the Living Stronger Together Weekend
• UPA recognized: UPA earns Platinum Seal from Candid

Remember that you are never alone. UPA is here to advocate and support our community year-round 💜

With gratitude,

The UPA Team

As February comes to a close, rare disease advocates from across the US and around the world work together to shine a light on the realities and needs of individuals living with a rare disease.

Here are some of the ways you can participate and bring a porphyria perspective to rare disease advocacy!

Write to Your Member of Congress

United Porphyrias Association is working with our partners in the rare disease community to advocate for two important legislative decisions. Write to your member of Congress to ask for their support to:

1. Protect the Orphan Cures Act from Repeal: This law is essential for making treatments available and accessible to patients with rare diseases.
2. Support the Bipartisan Credit for Caring Act: This bill recognizes the financial burden placed on family caregivers and provides a tax credit.

Find your representative and send them a letter (template)!

Show Your Stripes!

Join the National Organization of Rare Disorders #ShowYourStripes campaign!

Share your story on social media, post a photo of your stripes, or like and share UPA's content to help raise rare disease awareness!

Rare Disease Day Events

Porphyria advocates Colin, Keili, Ginger and Charles at Rare Disease Week on Capitol Hill

This week UPA and porphyria community members participated in several Rare Disease Day events including:

• Disease Week on Capitol Hill, week of February 24: UPA's Legislative Advocacy Manager Keili McEwen and porphyria advocates Colin, Ginger and Charles attended this event that brings together rare disease advocates to share their stories with legislators and connect with other members of the rare disease community

• Rare Disease Day at John Hopkins, February 27: UPA was in-person for this symposium focused on rare patient experiences, research updates, therapeutic development, multidisciplinary care, and more.

Find an event in your area.

Events continue over the weekend! The National Organization for Rare Disorders has a listing of Rare Disease Days events across the US.

On February 13, Disc Medicine announced that the FDA issued a Complete Response Letter (CRL) for bitopertin for EPP and XLP. In the CRL the FDA indicated they are not approving bitopertin at this time and will await the results of the ongoing Phase 3 APOLLO trial before making a decision. This will delay an approval decision until mid-2026.

UPA is organizing a unified immediate patient response to the CRL and will advocate through to to the next FDA review. Uniquely positioned in the Washington, DC area, UPA is engaging with regulatory expert consultants to help with this effort.

A team of patients will help spearhead this effort and engage the broad EPP/XLP community. Stay connected with UPA through our mailing list and social media to participate in targeted and broader legislative and awareness initiatives.

Report from the February 17 EPP/XLP Community Call

To help our community understand the FDA's decision and what comes next, UPA hosted a community call with Disc Medicine CEO John Quisel, regulatory expert James Valentine and porphyria expert Dr. Amy (Dickey) Yeung.

Key takeaways:

• The FDA agreed that bitopertin is effective at lowering protoporphyrin IX, but would like to see more evidence that makes a difference to the amount of sun exposure
• Additional data is already being collected through the phase 3 APOLLO study
• Disc Medicine is meeting with the FDA to ensure they are on track
• If you are a trial participant, please be sure to complete all study related tasks to ensure the APOLLO study has complete data!

When you are living with EPP or XLP, you may feel misunderstood and isolated with the daily restrictions related to the need to avoid sunlight or indoor light triggers.

Join an expert clinician, a person living with EPP and Kristen Wheeden, DrPH, MBA, President of the United Porphyrias Association (UPA) for Living in the Light: Understanding, Managing, and Thriving with EPP & XLP a free 30-minute online education live on March 4 at 12:00 PM ET.

This is a chance to better understand the conditions, hear options to improve quality of life and get a firsthand look at available therapies and some that may become available soon.

During this online session, you will learn:

• What You Might Not Know About EPP/XLP - impacts like fatigue, anxiety, and relationship challenges
• What are Your Treatment Options Today - how new therapies may help both EPP and XLP
• How to Talk to Your Doctor About Treatment - tips for sharing your symptoms in a way that help guide treatment

Register now to get more prepared to manage EPP or XLP at any age.

In What's UP Doc? a 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. Hetanshi Naik of Stanford University School of Medicine, CA.

I was diagnosed with AIP based on my lab results, but my genetic test shows a VUS and I was told the variant is de novo. Can you explain what a VUS means in my case, what ‘de novo’ means, and whether this variant could also be found in people outside my family?

VUS stands for variant of uncertain significance. In your case, it means that the genetic test found a change (variant) in the gene that is known to cause AIP, however the lab does not have enough information to confidently say whether the variant found causes AIP or is a benign change.

On its own, the result of VUS on a genetic test for AIP is inconclusive. Results from biochemical testing- specifically substantially increased urine PBG- is needed to confirm a diagnosis.

De novo means the genetic change (variant) found in you was not inherited from one of your parents, which is what usually happens with AIP. The change is “new” and happened for the first time in you. The variant found could be found in people outside your family, the same change that happened to your gene could happen independently to other people who are unrelated to you.

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

Drug Safety & Acute Hepatic Porphyrias

Porphyria expert Dr. Bruce Wang (UCSF) and patient advocate Nicolas Frias walk us through the basics of medication safety in acute hepatic porphyrias and using the drug safety database.

Learn more about:

• Why certain medications can trigger AHP attacks and why drug safety guidance matters
• How experts decide what is considered safe, unsafe, use with caution, or unknown
• How to use the database in daily life 
• What to do if a drug is not listed, including working with your pharmacist and care team

Q&A: Acute Hepatic Porphyrias Neuropathy & Pain

Dr. Mohamed Kazamel (Mayo Clinic), neurologist and porphyria expert took your questions on managing the chronic symptoms of acute porphyria (AIP, HCP, VP & ADP).

The Q&A covered a wide range of topics, including:

• Preventing nerve damage during an attack
• Treating neuropathy pain
• Managing dysautonomia and POTS-like symptoms
• Neuropathy testing

Connect UPs are safe, friendly online meet ups where you can connect with others who understand what you're going through.

Featured Connect UP: Acute Porphyrias & Paralysis

Hosted by Geri, this special meeting is for anyone who has been paralyzed because of their acute porphyria (AIP, HCP, VP & ADP).

Connect with others who understand.

Date: Tuesday, March 10, 2026

Time: 1:30-2:30 PM ET

Location: Zoom- register for the link

Upcoming Connect UP Meetings

Cutaneous Porphyrias Connections- This Sunday!

Monthly on the 4th Sunday of the month
Hosted by Candace

Next meeting: Sunday, March 1 at 3 PM ET

Location: Zoom- register for the link

Acute Porphyrias (AIP, HCP, VP & ADP)

Weekly on Wednesdays

Hosted by Mayra and Ginger

Next meeting: Wednesday, March 4 at 1:30 PM ET

Location: Zoom- register for the link

CEP & HEP Connections

Monthly on the 1st Saturday of the month

Hosted by Justin

Date: Saturday, March 7 at 6 PM ET

Location: Zoom- register for the link

Reflection & Prayer Connect UP

Monthly on the 3rd Tuesday of the month

Hosted by Sean

Date: Tuesday, March 17 at 7 PM ET

Location: Zoom- register for the link

Porphyria Caregivers Connect UP

Monthly on the 3rd Saturday of the month

Hosted by Wilson and Charles

Date: Saturday, March 21 at 12 PM ET

Location: Zoom- register for the link

AHP Men (AIP, HCP & VP) Connect UP

Monthly on the 3rd Sunday of the month

Hosted by Geoff

Date: Sunday, March 15 at 6 PM ET

Location: Zoom- register for the link

Connect Online Anytime: Porphyria Together Facebook Group

Share your successes and struggles on our private Facebook community: Porphyria Together.

This group is a great place to connect with others, gain tips and insights on managing your porphyria, and access exclusive livestreams where porphyria experts take your questions.

Ginger and Becky appear on Boston 25 News

On February 25, Ginger and Becky, two members of our EPP community, appeared live on Boston 25 News!

They discussed their experiences living with EPP, the difference having access to treatment had made in their lives, and highlighted the need for regulators, physicians and others to have an awareness and understanding of the realities of EPP.

Erythropoietic Protoporphyria (EPP) featured in People

The realities of growing up with EPP were in the spotlight this month with a special feature in People!

Shadow Jumpers founder Craig Leppert's experience and the stories of several young shadow jumpers were profiled, and Sun Escape Weekend got a shout out too!

Justin Goes Viral on TikTok

A new UPA TikTok featuring Justin Hamilton and his son has gone viral on TikTok with 9.3 million views and counting!

Thank you to Justin for sharing your story. It is bringing more awareness to your CEP and porphyria more broadly.

Meet Geoff, AIP Warrior and Connect UP Men's Group Host

"I am extremely grateful to be in a position to help others just as I was helped, I’ll never be able to fully express how it’s saved me."

I have Acute Intermittent Porphyria (AIP), and to tell my story, we need to go back to the summer of 2023.

I run a landscaping business in my small Alaskan town, and it does pretty well because I enjoy working hard. My first symptoms in 2023 were severe abdominal pain and a growing inability to eat. Still, I was focused on my busy summer season, so I didn’t give my lack of appetite or abdominal pain much attention. I figured it was just me getting older and working hard.

Another month passed, and my abdominal pain became unbearable. My entire body felt crushed under rubble every time I moved a muscle. I went to the doctor, and although all the tests showed my gallbladder was fine, they suggested my issues might improve if it were removed. So I had surgery.

That month, I lost another ten pounds. Even with my gallbladder gone, I was in more pain than ever. Within another week, I lost twenty more pounds. My right leg began to hurt uncontrollably and would shake constantly. At this point, I had to be monitored because I was having convulsions. If I left home, it was only for a few hours at most, and only if someone was with me. I began to worry.

Meet Kasey, CEP Warrior

"By my freshman year of high school, I’d undergone 13 surgeries and sustained eight broken bones. "

After being evaluated by numerous doctors and undergoing genetic testing, I was diagnosed with Congenital Erythropoietic Porphyria (CEP) at just three weeks old. From that moment through my freshman year of high school, I underwent 13 surgeries and suffered eight broken bones. Many of these surgeries, primarily skin grafts, were done every other year to help damaged skin keep up with my growing body.

My mental health was impacted the most during primary schooling and then again during college. I was expected to navigate the so-called best years of my life, while balancing a liver diagnosis. At one point, my supervisor suggested I wear one of the beach umbrella hats that have elastic to wear every day.

UV filters have or had to be installed over my home and classroom windows, as well as the fluorescent lights. I couldn’t participate in recess, field days, or any other outdoor activities.

We want to help you share your story

We're here to help! Fill out an interest form or reach out to our Community Engagement Team at info@porphyria.org.

Earlier this month we shared an incredible weekend with CEP patients, families and caregivers in Cleveland, OH 💜

From a discussion with porphyria experts and a virtual call with CEP patients around the world, to the many opportunities to connect individually and as a community, this weekend was a powerful reminder of the impact of coming together.

Participants openly discussed their challenges and priorities, giving UPA invaluable insight into the resources, advocacy, and support the community needs most, and shaping a roadmap for how we can better support the CEP community,

Thank you to the UPA President's Council members who helped organize the this weekend!

We’re proud to share that United Porphyrias Association has earned the 2026 Candid Platinum Seal of Transparency!

This recognition reflects our commitment to openness, accountability, and responsible stewardship of every donation we receive. Our donors can trust resources are being used thoughtfully to support patients, research, and programs that truly make a difference.

Thank you to everyone who believes in our mission and supports our work!