April 19, 2023 will be recognized as Global Porphyria Day, a time to spread awareness about porphyria, a rare disease, among the general public and the medical field. This year, the United Porphyrias Association, a Patient Worthy partner organization, will be launching their “This is my porphyria story” social media campaign on this day. This campaign calls on not only patients, but also caregivers, families, drug developers, doctors, and researchers to share their stories related to the disease.
Porphyria is a group of diseases which are most characterized by the accumulation of porphyrins in the body, which can cause harm to the skin and nervous system. These genetic inherited diseases are either acute or chronic in form and are caused by mutations that cause a deficiency of a certain enzyme that normally processes porphyrins. An attack can be triggered by a variety of drugs, alcohol, smoking, stress, fasting, or hormonal changes. Symptoms include severe abdominal pain, convulsions, sensory changes, muscle weakness, hallucinations, anxiety, confusion, and irritability. Treatments for the disease include a high carb diet, heme analogs, cimetidine, hormone treatments, antidepressants, and many more, depending on the type of that is present. To learn more about porphyria, click here.
“A rare disease is one that impacts up to 200,000 Americans and one-in-ten people globally. Porphyria is a group of ultra rare diseases that can be difficult to diagnose and cause unimaginable pain. United Porphyrias working to live up to our name – uniting the global porphyria community to improve the quality of life of the porphyria patient community.” – Kristen Wheeden, President, United Porphyrias Association
The association has been working closely with the global advocacy community and an internationally recognized scientific advisory board to boost awareness of the disease, with the hope of supporting research, improving diagnosis, and enhancing access to proper treatment.
To learn more about the awareness day, porphyria, and the United Porphyrias Association, click here.