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Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

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…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

People with variegate porphyria (VP), one of a group of related disorders, carry a significantly heavier disease burden — the overall impact of a medical disorder on a patient’s life — than those with hereditary coproporphyria (HCP), primarily…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

A case report describes the successful diagnosis and treatment of porphyria cutanea tarda (PCT) in a man presenting with a history of untreated hepatitis C. The case report, “«They Won’t Let Me Return to Work.» A Carpenter Diagnosed with Porphyria Cutanea Tarda,”…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

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)…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…