Petition to have Porphyria in South Africa added to the Chronic Disease List (CDL )of Diseases

Please sign this petition if you live in South Africa and have Porphyria. It doesnt matter what type of Porphyria you have. We want to get Porphyria recognised as a Chronic Disease and therefore added to the South African Chronic Disease List (CDL). In order to do this, we need to get as many people who have Porphyria to add their signature to this.

The South African Porphyria Foundation is a newly formed entity, we are currently in the process of having the Foundation registered as a non-profit organisation. The Foundation was created to raise much needed awareness of a disease that has influenced the life of many South Africans.  

The members of our Foundation, those that we represent have several forms of Porphyria however the most dominant type in South Africa is Variegate Porphyria, It is one of the Acute Hepatic Poprhyria’s.   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.                       

Each patient can differ in the severity of their porphyric attacks, and the triggers of an acute attack can differ vastly from person to person. In patients with Porphyria these are the systems in the body that are affected:- ·       

Peripheral Nervous System is affected, meaning that one can suffer from limb weakness, pain, numbness, sensory loss, fatigue, exhaustion even paralysis. ·       

The Central Nervous System is affected, meaning that patients suffer from anxiety insomnia, gastrointestinal pain, confusion, hallucinations, and depression. ·       

The Cutaneous System - The Sun – means that patients are unable to tolerate the sun, normal sunblock does not help in the case of Variegate Porphyria, physical manifestations are blistering and lesions on the exposed areas of the skin. Neurological and other systems mean that following sun exposure can leave her feeling nauseas, suffering extreme fatigue, debilitating headaches, unable to focus or concentrate.   ·       

Autonomic Nervous System – results in abdominal pain, pain in the back /chest / nausea / vomiting ·       

Cardiovascular System - Rapid heart rate, high blood pressure ·       

Gastrointestinal – Constipation or Diarrhoea

The true impact of Porphyria is how it can affect the liver and the kidneys. Many patients with the acute porphyria’s end up with chronic kidney disease.  

Living with a genetic condition such as the Acute Porphyrias like VP that affect every organ of the body is incredibly draining and debilitating. The effects of VP differ from day to day, depending on what has triggered the porphyria. Many of our members are battling with active Porphyria, daily life’s stresses can trigger an acute porphyric attack, medications, chemicals, environment, UV lighting, going out in the sun even though precautions are taken to avoid sunlight the heat itself can lead to episodes of being ill, this is a chronic condition which becomes problematic when you are not able to function due to having a disease such as Variegate Porphyria. Tasks that should be completed in a short time can take longer, the effort to concentrate on completing a task means that we can easily becomes fatigued requiring the need to rest during the day, the need to avoid stress which is a huge trigger for VP becomes stressful in ietself. The fact that a good percentage of us are unable to tolerate the sun at all means that our lives cannot be considered “normal” and the term Chronic is certainly apt for this.

This petition includes all forms of Porphyria, Variegate Porphyria, (otherwise known as VP), Acute Intermittent Porphyria (known as AIP) Porphyria Cutanea Tarda (PCT), Erythopoietic Protoporphyria (EPP), Hereditary Coproporphyria

We would like to submit this petition to the Minister of Health to have this disease  included in the CDL of diseases.         

The South African Poprhyria Foundation    Contact the author of the petition