Sunday, June 10, 2012

A Rare Cause. Porphyria and Oopskate.


For those of you who have followed me, you know that my husband died of a rare blood disorder called Acute Intermittent Porphyria (AIP) and that my one daughter has the same illness and has suffered for years.  Over my time in Second Life I have written a few posts on the subject.

In Envy of Cancer
Porphyria/Cancer Update.  It's Not A Competition.
Porphyria Rant.
Sometimes Hope Is Just Being Believed - Acute Intermittent Porphyria.
How Many Tears Will It Take To Change The Way Doctors Respond to Porphyria?

"Porphyria is not a single disease but a group of at least eight disorders that differ considerably from each other. A common feature in all porphyrias is the accumulation in the body of porphyrins or porphyrin precursors. Although these are normal body chemicals, they normally do not accumulate. Precisely which of these chemicals builds up depends on the type of porphyria.

The terms porphyrin and porphyria are derived from the Greek word porphyrus, meaning purple. Urine from some porphyria patients may be reddish in color due to the presence of excess porphyrins and related substances in the urine, and the urine may darken after exposure to light.

The symptoms and treatment vary significantly from one type of Porphyria to the next.

Porphyria symptoms arise mostly from effects on either the nervous system or the skin. Effects on the nervous system occur in the acute porphyrias (AIP, ADP, HCP and VP). Proper diagnosis is often delayed because the symptoms are nonspecific. Skin manifestations can include burning, blistering and scarring of sun-exposed areas.

The porphyrias are rare diseases. Taken together, all forms of porphyria afflict fewer than 200,000 people in the United States. Based on European studies, the prevalence of the most common porphyria, porphyria cutanea tarda (PCT), is 1 in 10,000, the most common acute porphyria, acute intermittent porphyria (AlP), is about 1 in 20,000, and the most common erythropoietic porphyria, erythropoietic protoporphyria (EPP), is estimated at 1 in 50,000 to 75,000. Congenital erythropoietic porphyria (CEP) is extremely rare with prevalence estimates of 1 in 1,000,000 or less. Only 6 cases of ALAD-deficiency porphyria (ADP) are documented."  from American Porphyria Foundation

This disease is incredibly cruel.  There is no cure and no real treatment.  The pain is excruciating and because it is so rare, most doctors have no idea how to treat it, refuse to believe the patient, and often make the disease worse by the treatment they administer or withold.  Testing for this illness is complicated and difficult.

Because of all of this there is very little help available to families with Porphyria.  I am humbled beyond belief at the kindness of Axi/Bronxelf and Dale and Gothika and everyone else involved to offer to use their event to raise funds.  It would have been lovely to provide the monies to the Canadian Porphyria Foundation but it had to close its doors due to lack of funding and support.  I can tell you that the American Porphyria Foundation is generous beyond belief to all countries and sufferers seeking help and I am proud and happy to have the money go to them.

Please check out the American Porphyria Foundation for more information and check out more information about the event at the Club Gothika Site.


King George III and the Royal House of Stuart, Hanover and Prussia are thought to have suffered with Porphyria. (AIP)

During an attack, the urine from a porphyrin patient turns dark purple when exposed to light. Hence the name given to it.

Many of the legends regarding vampires are thought to have been fueled by the Porphyrias that impact the skin.  Sufferers do blister and burn when exposed to the sun, causing, even today, people to live most of their lives in doors.  The gums recede causing the teeth to appear more like fangs.  Garlic makes porphyria worse so they may have thought wearing it would keep them away and sometimes a heme transplant can help with the symptoms.  Perhaps some of the early sufferers also found that drinking blood helped.

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