Marisa Wexler, MS, senior science writer —

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

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,…

Applications are now open for Find Your Shadow 2021, an adventure program from Shadow Jumpers that aims to help children with erythropoietic protoporphyria (EPP) try new things they otherwise would not do because of their disease. EPP is a type of cutaneous porphyria — a porphyria that…

Note: This story was updated on Feb. 2, 2021, to note that cutaneous symptoms are more common in VP and HCP than in AIP or ADP. The American Porphyria Foundation is joining with others in asking people with acute hepatic porphyria to participate in the Porphyria Worldwide Patient Experience Research (POWER)…

A combined liver and kidney transplant can be an effective treatment for acute intermittent porphyria (AIP) patients with kidney disease, a case report shows. The report, “Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report,” was published in the American Journal of Case…

An Argentinian man with two different porphyria-causing mutations was described in a new case report. The unusual findings highlight the importance of thorough clinical and molecular analyses in such cases to better define treatment strategies, researchers said. The report, “Acute Intermittent Porphyria in a Man with…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is central to NORD’s mission and history — community…

Voting is underway for the 2021 Pet Calendar Contest organized by the American Porphyria Foundation (APF). Through Oct. 30, people can vote for their favorite pets, with each vote requiring a $2 donation. Information about the competing pets, as well as links to make vote and add an…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Vision loss in both eyes can be a sign of acute porphyria in children when associated with unexplained abdominal pain, a case report suggests. Proper treatment can also successfully reverse this vision loss, according to the report, which was titled “Bilateral reversible visual loss secondary to…