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Raising awareness about acute hepatic porphyria (AHP) and helping to shorten the time it takes to get diagnosed with the rare disease are the goals of a new documentary by Alnylam Pharmaceuticals. The film, “Two of Me: Living with Porphyria,” chronicles the lives of seven people from different…
BioNews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
The number of deaths or acute attacks in women with acute hepatic porphyria (AHP) that required hospitalization decreased significantly since 1980, although more than half of them still reported some acute symptoms, according to a natural history study in Finland. The life expectancy for women with AHP…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
Almost all people with severe, recurrent acute intermittent porphyria (AIP) were free from symptomatic attacks after treatment with Givlaari (givosiran), a small real-world study showed. Givlaari “drastically reduced the attack rate in our cohort, as 96% were attack-free at the time of the study,” the researchers wrote. Early…
Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…
Adults with erythropoietic protoporphyria (EPP) treated with Scenesse (afamelanotide) spent more time exposed to light in springtime, experienced less pain, and slept better, according to a small case-controlled study. These patients, who experience skin hypersensitivity to sunlight, tolerated increased broad-spectrum white light exposure in the spring months, the…
The porphyria community has a new patient advocacy organization in the United Porphyrias Association (UPA), a newly launched nonprofit that seeks to advance disease awareness, as well as research and treatment development. The Maryland-based organization will strive to enhance patients’ lives through improved diagnostics, porphyria management, and an emphasis…
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