“In sickness and in health, until death do us part.” On April 27, 2019, my husband, Daniel, and I made the biggest commitment of our lives. Little did he know that less than two years later, sickness would overpower health. In July 2020, I started experiencing symptoms of acute…
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Patients are very satisfied with Givlaari (givosiran), the only approved treatment that targets the cause of acute hepatic porphyria (AHP) to help reduce attacks, according to a new study based on interviews with more than 20 people with AHP in the U.S. and Europe. Indeed, these AHP patients —…
A newborn boy with low muscle tone, and breathing and feeding problems during his first days of life was diagnosed with delta-aminolevulinic acid dehydratase (ALAD) deficiency porphyria after undergoing whole genome sequencing, according to a recent report. This was the third reported case of infantile-onset ALAD deficiency porphyria, an…
A newly developed treatment to prevent phototoxicity, or light-induced skin damage, was found effective in a mouse model of erythropoietic protoporphyria (EPP), a common form of porphyria marked by skin hypersensitivity to sunlight and some types of artificial light, a study showed. The novel oral therapy is designed to block ABCG2, a transporter…
Becoming educated and informed about porphyria is a good first step. Here you’ll find general information about the disease, including the types, diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of some of our columnist’s words of wisdom to help you along on your porphyria journey.
There is no cure for porphyria yet, but there are therapies that can help manage the disease. Here you can find more information about some of the approved treatments for porphyria.
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