News

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

Six months of treatment with Givlaari (givosiran) effectively reduced pain during and between porphyria attacks in people with acute hepatic porphyria (AHP), also known as acute porphyria, according to a post-hoc analysis of data from the Phase 3 ENVISION trial. Givlaari also was found to lower the use of…

Nearly 25% of people, mostly women, with acute intermittent porphyria (AIP) also have chronic nerve damage — a condition known as neuropathy — and use high amounts of pain medications, according to an analysis of a U.S. healthcare claims database. Based…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

Abdominal pain and nausea in a woman having an acute porphyria attack was initially misdiagnosed as a natural response to the early stages of a pregnancy, a recent case study reported. Her case, its authors noted, highlighted the importance of performing urine screening tests whenever porphyria is suspected,…

Activities are afoot to mark Porphyria Awareness Week — taking place April 10–17 this year — set aside annually to call attention to this group of inherited disorders that affect an estimated 1 in 500 to 1 in 50,000 individuals globally. Supporters are encouraged to engage in Zoom sessions and…

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…

People with symptomatic acute intermittent porphyria (AIP) should be monitored regularly, as this disorder can affect their quality of life even if their attacks are infrequent. A recent study with that finding revealed evidence of significant chronic symptoms and long-term medical conditions among patients with sporadic AIP, as compared to…

A portrait of Morgan McKillop, a pre-teen who has erythropoietic protoporphyria (EPP) and is an active member of the American Porphyria Foundation (APF), has been chosen to be a part of an art gallery of faces representing rare diseases. McKillop’s image, which is done in muted tones and…