1. ITV Report

Man with rare skin condition calls for Australian treatment to be made available in Wales

A man from Caldicot is calling for a medicine to treat a rare condition he suffers from to be made available in Wales.

James Rawnsey suffers from a rare skin disease called Erythropoietic Protoporphyria (EPP) that causes a sensitivity to light.

The condition means James is sensitive to sunlight

It is thought there are only around 15 to 20 people in Wales with the condition.

James said an Australian pharmaceutical company has developed a treatment that enables people with the condition to lead a normal life, but it is not offered in Wales.

EPP is almost impossible to describe.

It is a painful and debilitating condition with no cure.

Sufferers are left in extreme pain following exposure to light, both sunlight and artificial light, especially from modern energy efficient lighting and display screens.

In severe reactions it causes severe swelling and painful blisters and sores.

I am rapidly heading towards not being able to work due to EPP.

– James Rawnsley

The treatment is a medicine called afamelanotide or Scenesse.

The British Porphyria Association are calling for more to be done to help people with EPP.

The treatment, Scenesse, produces melanin in the skin, which means that people who suffer from EPP can stay out in the light longer than they could have otherwise.

People who have Porphyria have a build up of toxins. With EPP that build up means that the skin is very much affected by light and it can cause tremendous burning and tremendous pain.

Even morphine and the like don't touch the pain.

People who have EPP can be in absolute agony.

Our members were tremendously excited when they tried Scenesse.

They could go out for longer without having to cover their hands and face with dark clothing.

It made a big difference to the quality of their lives.

– John Chamberlayne, Chairman of the British Porphyria Association

The All Wales Medicines Strategy Group (AWMSG) decided not to recommend using Scenesse in Wales, because it said it was not cost-effective.

One of the roles of AWMSG is to advise Welsh Government on whether or not new medicines should be available for use in NHS Wales.

The recommendation announced at the meeting was that the medicine is not recommended for use as the case for cost-effectiveness had not been proven.

In line with the appraisal process, the marketing authorisation holder, Clinuvel Pharmaceuticals Ltd, subsequently requested a review of the decision, and the grounds for this request are currently being explored.

The appraisal process has therefore been suspended and the recommendation will not be forwarded to Welsh Government until a decision is made as to whether or not the grounds for an independent review have been met.

– All Wales Therapeutics and Toxicology Centre statement

What is EPP?

The word ‘erythropoietic’ means associated with red blood cells (‘erythro-’) and their formation (‘-poietic’).

The porphyrias are a group of uncommon diseases caused by something going wrong with the production of chemicals known as porphyrins.

These chemicals are the building blocks of haem, which, when combined with a protein (globin), forms haemoglobin, the material in red blood cells that carries oxygen round the body. In the case of EPP, there is a build up of one of these porphyrins (protoporphyrin) in the blood, especially in the red blood cells.

This leads to a sensitivity to sunlight.

(British Skin Foundation)