The porphyria community is lucky to be supported by dedicated physicians, researchers and advocates who work tirelessly to improve care and develop new treatments for porphyria. The United Porphyrias Association is pleased to introduce you to some of them!

Collaboration between patients, caregivers, advocates, expert physicians, industry partners and regulators is necessary to realize advancements in porphyria. All of us doing our important roles can lead to better diagnostics, new therapies and better quality of life for our patient community

-Kristen Wheeden

What’s the history of the UPA, why was it founded?

In late 2021, porphyria experts in the US saw the need for a transparent, organized patient advocacy organization. They approached me and together we launched the UPA in January 2022.

Collaboration between patients, caregivers, advocates, expert physicians, industry partners and regulators is necessary to realize advancements in porphyria. All of us doing our important roles can lead to better diagnostics, new therapies and better quality of life for our patient community.

Tell us a bit about yourself and your connection to porphyria.

I am a mom of a child with porphyria. I have three boys and my youngest son, Brady, has erythropoietic protoporphyria or EPP. He was diagnosed just after he turned 4 by a pediatric dermatologist, after seeing many other doctors. We were really lucky find that doctor and to get diagnosed relatively quickly.

I live in Bethesda, MD which is close to Capitol Hill, the FDA and the NIH, so whenever there were opportunities to advocate for porphyria or for rare disease initiatives I’d be there. Porphyria has become my focus both personally and professionally and for the last two years I’ve been serving as the President of the United Porphyrias Association (UPA).

UPA is celebrating two years, what are you most proud of so far?

I’m most proud of how many patients we’ve been able to help in such a short period of time. A lot of our role is just listening to people, to find out where they’re at and how we can best support them. Whether it's seeking a diagnosis, being a listening ear, connecting with other porphyria patients informally or formally- there are so many ways we’re able to make a difference.

I’m also incredibly proud of how quickly our team has come together. We’ve been so well supported by our Scientific Advisory Board, our President’s Council of patients and caregivers, Board of Directors and other partners- it has let us hit the ground running.

There have been so many highlights: last year we co-hosted the International Porphyrias Symposium, we launched a comic book for kids with EPP with our sister organization Shadow Jumpers, we’re bringing the latest research to patients with our Summing UP feature.

What’s next for UPA?

Looking ahead our calendar is full! I wake up every morning excited to get to work!

Central to everything are patients and their families. We’re going to keep helping people access and advocate for diagnosis and treatment. We're here if you need a listening ear. Our patient navigator, Erin, has porphyria herself and knows how challenging it can be to navigate the world with these conditions.

We're also focusing on creating opportunities for the community to come together, make and deepen supportive relationships, and to celebrate. I'm so excited for the Sun Escape Weekend we’re planning with Shadow Jumpers in May and Porphyriapalooza, UPA’s first patient weekend, in September!

We need improved and quicker porphyria diagnosis, there needs to be better access to current treatment and we want to advance emerging treatments. With our partners, we’re going to have renewed focus this year on updating the drug safety database and treatment guidelines for acute porphyrias. We’ll also be raising awareness at medical conferences and with our community partners.

As an advocate, do you have any advice for someone who has just been diagnosed with porphyria?

Learn about your disease and how to explain it to others- you'll almost always be the most knowledgeable person in the room! Don’t be afraid to ask for support. Build yourself a community- both personal and for health care. Most importantly be kind to yourself, porphyria can be really hard.

Is there anything you’d like to add?

I just want to say thank you to everyone who is a part of making the world better for everyone affected by porphyria. Our patients and their families are so generous with their time and talents. I’m so grateful to everyone who participates in research, shares resources with their networks, or offers suggestions for how we better serve you. We have expert physicians are always willing to drop everything to help a patient. We’re incredibly well supported by our community and partners and I’m so excited about what we have and will achieve!

Meet more of the experts and advocates changing the world for porphyria

Meet more of the porphyria experts and advocates changing the world for porphyria

Featured

Meet Dr. Makiko Yasuda, Porphyria Researcher

One thing I love about science is you learn something, then new information comes up and it opens up a whole new set of questions.

Meet Dr. Karl Anderson

Everything you learn about the disease you learn from patients. It’s important to understand how the disease really affects people, how the treatments benefit people, and for that you really need to listen to your patients.

Meet Ariel Lager, UPA Director

Everything about my life before diagnosis: my job, my family, my friends, were not places where it felt like my new diagnosis fit and they were certainly not places and people who understood what I was going through.

Meet Craig Leppert, Shadow Jumpers Founder

I realized that my condition with the sun was either going to define my life or become a cool addition to the story of my life

Meet Colin McEwen, Porphyria Advocate

I want to turn what I went through into something good, because otherwise it’s just suffering for the sake of suffering, and I can’t accept that. I want to do something more with my story

Meet Honorable Joe Crowley, UPA Director and Former Congressman

Building that connection with your elected officials can help sensitize them to that reality and keep them engaged in rare disease issues.

Meet Kristen Wheeden, UPA President

Collaboration between patients, caregivers, advocates, expert physicians, industry partners and regulators is necessary to realize advancements in porphyria. All of us doing our important roles can lead to better diagnostics, new therapies and better quality of life for our patient community

Meet Dr. Herbert Bonkovsky

With rare diseases, you could call every patient a clinical trial of one because each one is unique. It is important to listen to them and try to address their symptoms

Meet Padmini Pillai, PhD and UPA President's Council Chair

You have to figure it out for your own body and trust that you know your body better than anybody else. I think that's where having a community of other patients and patient advocates is important because it can give you that confidence, security, friendship, and empathy that you're doing what's right for you.

Meet Dr. Manish Thapar

It’s been really eye-opening to see how important patient involvement is in rare disease. Patients can drive the field, move the field. Rare diseases like porphyria are very life-altering. Patients have an important role in how the regulatory agencies and how physicians are looking at the disease and what the outcomes are.