What is the history of Porphyria?

Porphyria comes from the greek word "porphyra" because urine turns purple when expose to the sun.

The history behind the South African Variegate Porphyria indicates that the gene was introduced into South Africa in 1688, when two Dutch settlers, Gerrit Jansz van Deventer and Adriaantje Ariens married in Cape Town. This has now been proven most South African patients carry a single founder mutation, and haplotype analysis of the ancestral chromosomes has confirmed a relationship with Dutch families with variegate porphyria. In the years following 1688 the gene spread widely through the South African population and is common amongst South Africans of Dutch ancestry, whatever their race or home language. This disease affects both males and females equally, one mutation of Variegate Porphyria is the R59W which represents the founder mutation in the South African population. Patients with Variegate Porphyria may experience both skin disease and acute attacks. As a porphyria sufferer we are only able to take certain medications and when in an attack mode (which can be brought on by almost anything including the sun) we require specialised care and treatment is extremely costly which the majority of sufferers cannot afford. It is a life threatening disease and if not treated immediately and correctly can leave the inflicted with physical, nerve and mental damage.