Time for Citizen Scientists with Hepatic Porphyria to Take Action

Suffering alone with a rare, chronic condition is a terrible thing. But thanks to the National Porphyria Registry people living with this vexing disease have a way to stand up, be counted and take part in the next generation of treatments.

There are eight different types of the disease, including hepatic porphyria, that range from having acute and painful symptoms to having no symptoms at all. All of them create an accumulation of porphyrins or porphyrin precursors. These chemicals are found naturally in the body and under normal circumstances provide the pigment in red blood cells and form hemoglobin. But too much of any good thing can be toxic.

Normally porphyrins do not accumulate, but in people with porphyria, they do. This causes all sorts of problems. But the symptoms are so varied that often, it’s hard to diagnose, or may not even be evident. Even greater reason for those who are diagnosed with this disease to band together as citizen scientists to help find a cure!

According to The American Porphyria Foundation, disease experts created the National Porphyria Registry as a way for people living with porphyria to share information about their health and treatment so physicians can learn from their experience, and use that knowledge to enhance diagnosis and treatment–and eventually find a cure for porphyria.

Since there are fewer than 200,000 people with this disease in the U.S., participation in the registry is important to help find effective treatments. The American Porphyria Foundation (APF) manages this database.

Joining the registry is anonymous and free of charge. All data will be stored in a secure, computerized database. No personal identifying information (such as your name, address, telephone number) will be given to anyone without your expressed approval.

If you need help enrolling in the registry contact the APF office toll-free at 1-866-APF-3635.

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