United Porphyrias Aims to Raise Awareness, Research and Support for Rare Disease
BETHESDA, Md., May 17, 2024 /PRNewswire/ — United Porphyrias Association (UPA) is proud to announce May 18 as Global Porphyria Day. Global Porphyria Day is intended to create awareness that prompts action for improved healthcare, increased research, and enhanced support for individuals with porphyria. The campaign encourages wearing and promoting the color purple, the color of porphyria, stemming from the Greek word “porphyra”, which means purple.
Porphyria is a group of disease of eight rare, genetic disorders. People living with a porphyria have changes to certain genes involved in development of heme, an essential element bringing oxygen into the bloodstream. Each type of porphyria is caused by a defect in a specific enzyme responsible for heme production, causing a buildup of other compounds, called porphyrins. The buildup of porphyrins causes different types of porphyria and associated symptoms, including significant pain. These symptoms can be broadly divided into two categories: acute (sudden and severe) and cutaneous (skin related.)
Symptoms range from severe abdominal pain, nausea, vomiting, and effects on the nervous system in acute porphyria to photosensitivity which can cause skin pain, burning, tingling, itching, swelling, blistering, infections, scarring in cutaneous porphyria.
UPA supports global efforts to raise awareness of porphyria improving diagnosis and treatment of these rare diseases and providing critical support to the porphyria community. UPA’s internationally renowned scientific advisory board of porphyria experts works closely with the patient community to make advances.
“The porphyrias are often misdiagnosed and misunderstood by the medical community,” said UPA President and porphyria caregiver, Kristen Wheeden, “Our work leads directly to earlier diagnosis, better patient care, increased research, and access to therapeutics. Everyone has the right to live without pain.”
The United Porphyrias Association is committed to improving the quality of life of the porphyria patient community and is relentlessly focused on advancing disease awareness, research, and therapies in all the porphyrias. For more information on Porphyria, Global Porphyria Day, and the United Porphyrias Association, visit www.porphyria.org.
Contact:
Kristen Wheeden, President, United Porphyria Association
Phone: 1-800-868-1292 Email: [email protected]
SOURCE United Porphyrias Association
