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3 weeks ago | 
porphyrianews.com | Kristen Wheeden |Steve Bryson |Margarida Maia |Marisa Wexler
Everyone seems so very excited for spring. The birds are chirping, tree buds are sprouting, and the sun hangs hotter and higher in the sky for longer stretches each day. Well, almost everyone. Right on cue, this is when Shadow Jumpers — as we lovingly call our people living with erythropoietic protoporphyria (EPP) — must make extra efforts to dodge the sun. The launch of spring has them bracing for the inevitable pain they’ll experience.
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1 month ago | 
porphyrianews.com | Kristen Wheeden |Andrea Lobo
Last week was a rallying cry for rare disease patients, their families, and other advocates to make their voices heard. I spent time on Capitol Hill in Washington, D.C., standing alongside fellow advocates for a week of activity centered on Friday’s Rare Disease Day. Representing the United Porphyrias Association (UPA) as part of the EveryLife Foundation for Rare Diseases, I joined others in raising awareness and pushing for progress.
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1 month ago | 
porphyrianews.com | Kalyn N Shelton |Kristen Wheeden |Andrea Lobo
To whom it may concern,I, Kalyn Shelton, wish to return my body as well as my mind because of chronic fatigue, nausea, pain, anxiety, depression, and more. I received this item a little over 30 years ago and began experiencing severe issues in July 2020. Please be advised that I’ve had my mind and body examined multiple times and have been diagnosed with acute intermittent porphyria (AIP).
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2 months ago | 
porphyrianews.com | Patricia Inacio |Andrea Lobo |Lindsey Shapiro |Kristen Wheeden
People with porphyria cutanea tarda (PCT), the most common form of porphyria, may be at a higher risk of heart attacks, blood clot-related complications, and other cardiovascular conditions, underscoring the need for early screening and targeted treatment, a retrospective study from the U.S. suggests.
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2 months ago | 
porphyrianews.com | Kristen Wheeden |Steve Bryson |Kalyn N Shelton |Andrea Lobo
When the youngest of my three sons was diagnosed with erythropoietic protoporphyria (EPP) in 2009, I was a hot mess. His gut-wrenching pain was unbearable for him, and it didn’t make sense that it stemmed from something as natural as sun exposure. I remember crumpling on the floor. I was overwhelmed by fear, uncertainty, and a sense of helplessness — but not for long. EPP is an ultrarare disease that causes severe pain upon exposure to visible light, making even everyday activities a challenge.
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Jan 8, 2025 | 
porphyrianews.com | Andrea Lobo |Claire Richmond |Kristen Wheeden |Steve Bryson
A newborn boy with low muscle tone, and breathing and feeding problems during his first days of life was diagnosed with delta-aminolevulinic acid dehydratase (ALAD) deficiency porphyria after undergoing whole genome sequencing, according to a recent report. This was the third reported case of infantile-onset ALAD deficiency porphyria, an extremely rare type of porphyria.
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Nov 13, 2024 | 
porphyrianews.com | Marisa Wexler |Margarida Maia |Kristen Wheeden |Steve Bryson
The production of bile acids, which are molecules made by the liver to help with digestion, is dysregulated in people with acute intermittent porphyria (AIP), according to a recent study. Findings suggest the levels of certain bile acids may serve as an objective biological marker of AIP severity, and researchers think that changes in these liver molecules may help to explain why people with AIP are at an increased risk of developing liver cancer.
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Oct 29, 2024 | 
porphyrianews.com | Kristen Wheeden |Andrea Lobo |Patricia Inacio |Marisa Wexler
I recently had the honor of attending the National Organization for Rare Disorders (NORD) Breakthrough Summit in Washington, D.C., on behalf of the United Porphyrias Association (UPA). The annual Rare Diseases and Organ Products summit brings together advocates, patients, researchers, and healthcare professionals from the rare disease community to discuss advancements, challenges, and the future of patient care.
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Oct 23, 2024 | 
porphyrianews.com | Andrea Lobo |Kristen Wheeden |Margarida Maia
Vitamin D plays a crucial role in maintaining and enhancing bone mineral density in people with erythropoietic protoporphyria (EPP), according to a study from the Netherlands. EPP patients in the study had high prevalence of osteopenia, or lower-than-normal bone density, and osteoporosis, a more severe form of bone loss.
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Oct 9, 2024 | 
porphyrianews.com | Andrea Lobo |Marisa Wexler |Mary Chapman |Kristen Wheeden
The United Porphyrias Association (UPA) has received a five-year grant from the Chan Zuckerberg Initiative Rare As One Project to support efforts including advancing progress on the diagnosis, research, and treatment of porphyria.
