Rare genetic blood disorder means Oran cannot go out in natural light

Imagine having to sit in complete darkness for a week, to recover from the severe effects of a genetic condition, for which you are being denied an available treatment.

That is the desperate situation facing Oran Carlin (15) from the Templegrove area of the city.

Oran was born with Erythropoietic protoporphyria (EPP), a rare genetic blood disorder which means he cannot go out in natural light. 

According to the British Porphyria Association (BPA), which is supporting Oran and his family, patients with EPP suffer from acute, unremitting pain and skin damage in areas exposed to sunlight.

“Symptoms translate into debilitating effects that make daily activities, including education, sport and personal relationships a huge challenge - leading to negative effects on physical health, relationships, financial stability and psychological and emotional wellbeing.”

Speaking to Derry Now, Oran’s mum, Breanda, graphically described how EPP affects Oran.

She said: “It would start off with an inner itch, which leads to severe pain. Then his blood vessels leak, which causes swelling.

Depending on how much he has been out in the sun and how much he has been affected, an episode could last for up to 24 hours. The worst case ever resulted in him having to sit in the dark for a full week.

“When you are born with EPP, you usually start to show symptoms around four years of age, but Oran started to show symptoms when he was two. 

“Essentially, EPP means Oran cuts from the inside out. If he is going through an episode, it would look like his face has been scrapped along tarmac. This happens days into an episode whenever he is healing. 

“Whenever his blood vessels leak, Oran swells up and it looks as if he has been beaten up with a baseball bat. His skin stretches and then splits. 

“After a couple of days, he looks like he has got burn marks, from rubbing against the floor, on his nose, his lips and his chin,” said Breanda.

Oran and his family are being supported by the BPA, which has extended its remit to Ireland as there are no similar organisations here.

There are eight different kinds of porphyria, each with its own symptoms, and the BPA works with everybody. 

Breanda revealed that the BPA is also working with the pharmaceutical company, Clinuvel. Clinuvel has developed a new drug SCENESSE®  which successfully treats porphyria. 

Breanda said: “SCENESSE® is basically like a wee implant, which lasts three months, but Clinuvel is also working on a tablet form.

“It helps people with porphyria by fooling the body into thinking it has the enzyme, which the body is missing. This missing  enzyme is why Oran’s body reacts the way it does to sunlight. If he was able to get SCENESSE®, he could go out in the sun.

He would be able to get hours out in the sun, without a reaction.

“SCENESSE® has been available for 12 years. For the past eight years, Clinuvel  has been trying to get it passed for use by the National Institute for Health and Care Excellence (NICE), without any success.”

NICE is the arm of the Department of Health and Social Care which publishes guidelines on the use of new and existing medicines, treatments and procedures, within the NHS.

NICE turned down the use of SCENESSE®, again, in May. CLINUVEL is challenging that decision.

Clearly emotional, Breanda said the most frustrating part of the situation was the fact there is a treatment available for Oran’s porphyria, yet NICE is refusing to approve it.

“At the minute, Oran is 15 and a half and you have to be 18 to get SCENESSE®,” said Brenda. “For all those years, I kept thinking to myself, ‘it will be alright. It will be approved. He has plenty of time. He is only eight. He is only 10’.

“But now we are getting closer to 18 and Oran is holding on to the hope that when he is 18 he is going to get SCENESSE® and that he is going to be able to play a football match,  because he is an outdoor wane and all he wants to do is go out and play football or go on his bike and run around with this friends. The older he is getting, the more and more frustrating it is getting for him,” said Breanda.

On August 20, Oran’s family and friends are all going to do  a fundraiser in aid of the BPA, which advocates for supporting and educating porphyria patients, relatives and medical professionals, so as to improve the quality of life for those living with the different types of porphyria. 

Liz Gill, BPA’s Strategic Lead of Operations and Advocacy said: “Providing support for the young porphyria community is a priority to the BPA due to the immense impact EPP has on childhood and teenage years.

“Missed school trips, missed holidays and social experiences that young EPP patients suffer often has a significant negative impact on self-confidence, building peer relationships and making life choices.”

The Carlin family fundraiser will take place on the Stairway to Heaven walk in County Fermanagh.

Breanda said: “We are going to organise a bus to take us all down. It is going to have to be early in the morning because we are hoping Oran can do it too.

“I am hoping to raise awareness about the fact that people have porphyria and there is an actual drug out there which can treat it successfully but NICE is ignoring those people, giving the impression they are not important enough for the drug to be approved for them.

We have also received support from the NI Rare Disease Partnership which can be contacted at: info@nirdp.org.uk."

Breanda recently had a meeting with Foyle MLA Mark H Durkan (SDLP) to discuss Oran’s case.

Speaking to Derry Now, Mr Durkan said: “It’s heart-breaking to hear how this extremely rare but horrendous condition is impacting this young man, Oran and his ability to do things that so many of us take for granted.

“Afamelanotide [sold under the brand name SCENESSE®] is being used elsewhere and is effectively providing relief to people suffering from EPP.

“The challenge here is that this treatment hasn’t been approved for use by NICE and there are also significant associated costs which need to be taken into consideration.

“I’ve written to the Health Permanent Secretary, Peter May urging his intervention to secure trials in Northern Ireland, the SDLP will also push for action at Westminster to explore how this life changing drug can be made accessible for people living with EPP.”

Breanda said: “I would just love Oran to be able to play a football match or go on a school trip, without having to constantly worry about the weather.

This is negatively impacting his life, more so because there is a drug out there that could change it.”

Donations can be made online  to Breanda’s JustGiving page: ‘Oran's fundraiser for The British Porphyria Association.’