A woman with the rarest type of porphyria, called congenital erythropoietic porphyria or CEP, was successfully treated by regular blood removal — a procedure called phlebotomy — which lowered her blood iron levels, reduced urinary porphyrins, and eliminated sun-sensitive skin blisters, a case study showed. …
Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…
Inherited, genetic late-onset erythropoietic protoporphyria (EPP), a rare form of EPP that usually manifests later in life, should be included when considering a diagnosis of adults with generally mild skin itching and rashes in sun-exposed areas, a review study proposed. The study, “Inherited genetic late‐onset erythropoietic protoporphyria: A systematic…
Rapid and severe damage to peripheral nerves, those sending sensory and motor information from the brain and spinal cord to the rest of the body, can be a rare sign of acute intermittent porphyria (AIP), a case report suggests. Early diagnosis of AIP is key in avoiding serious nerve…
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…
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