Spotlight Porphyria
Welcome to Spotlight Porphyria where we feature all things porphyria! Including:
Porphyria Voices shares experiences, insights, and advice from the porphyria community.
What's UP Doc? Where porphyria experts take your questions.
Summing UP explains the latest research in easy-to-understand summaries
Meet your experts and advocates where we meet the people changing the world for porphyria.
…and more!
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Porphyrins and Fluorescence
Question: Does porphyrin in stool fluoresce under UV/Wood light?
Living in the Shadows: Elsie’s Journey with Congenital Erythropoietic Porphyria
The world isn’t designed for people with rare diseases, and convincing others that we actually need the support we ask for is a battle in itself.
Statement from the American Porphyria Expert Collaborative
The American Porphyria Expert Collaborative (APEX) has issued a statement advocating for consistent and accessible porphyria testing to be available nationwide.
Understanding the Emotional Toll of Being a Caregiver for a Loved One with Porphyria
Being a caregiver is one of the most heart-wrenching and overwhelming roles a person can take on. The emotional and physical toll it exacts on both you and your loved one is often unspoken—yet, it profoundly shapes your mental and emotional landscape.
Meet Dr. Robert Desnick, 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.
How Positive Experiences Can Exacerbate Acute Porphyria: Managing Stress and Symptoms
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.
Treatments for Congenital Erythropoietic Porphyria
Question: When will we get a treatment for Congenital Erythropoietic Porphyria (CEP)?
Living with Erythropoietic Protoporphyria (EPP): A Personal Journey
“I Have Never Seen Anyone Washing Windows in the Rain”. Before being diagnosed with EPP, my next door neighbor said these exact words to me.
Take Care and Celebrate: Adapting the Holidays to My Porphyria
Diana Escobar (AIP) shares her tips and recommendations for enjoying the festive season without compromising your health.
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.
Mental Health in the Porphyrias
This study involved focus groups with porphyria patients to explore the emotional and psychological challenges they face. Participants discussed their lived experiences, shared coping strategies, and offered recommendations for additional support to improve their quality of life.
UPA Receives Prestigious CZI Grant
The United Porphyrias Association (UPA) is honored to announce its selection as a recipient of the Chan Zuckerberg Initiative’s (CZI) Rare As One grant.
Urine Porphyrins for Diagnosis
Question: I think I might have Acute Intermittent Porphyria (AIP). My doctor ordered a urine porphyrin test, my porphyrins were high but then I was told that the results aren't considered diagnostic. Why not? And what tests should my doctor order?
Using AI to Diagnose Porphyria
People with symptomatic acute hepatic porphyria (AHP- includes AIP, VP and HCP) often wait about 15 years to get diagnosed, which is too long. This research used information from electronic health records (EHR) and machine learning (ML) to see if they could find people with AHP faster.
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.
Porphyria and Menopause
Question: How will menopause affect my porphyria? Are estrogen treatments for menopause safe?
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.
The EPP Impact Questionnaire
Having a standardized questionnaire tool is important to evaluate and demonstrate the effectiveness and impact of new treatments for EPP. Regulators like the FDA consider improvements in quality of life, along with other factors, when deciding whether to approve new treatments.
This research developed a questionnaire called the EPP Impact Questionnaire or EPIQ.
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
Worldwide Patient Experience of Acute Porphyrias
Up to this point, most research that has been published about AHP has focused on symptoms and care during an acute attack. This research looks at the full burden of acute hepatic porphyrias (AHP, includes AIP, HCP and VP) on patients from around the world.