Scores of Australians are living with a rare ‘Vampire-like condition’ that makes them so allergic to light they ‘burn from the inside’.
Just two minutes of sun exposure is enough to leave them with searing pain they liken to being thrown in a bath of boiling fat for days.
Anne Wilson, 72, and five-year-old Tirion ‘Tiri’ Griffiths are two of almost 200 in Australia and New Zealand suffering from erythropoietic protoporphyria (EPP).
They are desperately waiting for a drug that has all but cured EPP patients in Europe to be allowed for sale here, and approved last week in the U.S.
Tirion ‘Tiri’ Griffiths is one of almost 200 in Australia and New Zealand suffering from erythropoietic protoporphyria which forces them to live like real-life vampires
On rare occasions Ms Wilson leaves her Melbourne home, she must be covered from head to toe, including specialised UV-resistant gloves.
Even inside she can’t be under direct light for long, instead using lamps elsewhere in the room, and even keeps her distance from the TV.
‘The pain is like being lowered into a bath of boiling fat. It’s the most indescribably intolerable, unending pain,’ she told Daily Mail Australia.
‘It doesn’t stop when you get out of the light. If I’ve been exposed for even two minutes, it takes me three days to get over it.
‘I’ve had it from birth. My mother said I was always screaming [as a baby] but she didn’t know what was wrong with me.’
The grandmother said one particularly painful bout of the condition left her in hospital knocked out on Valium for six weeks.
Anne Wilson, 72, must be covered from head to toe, including specialised UV-resistant gloves, whenever she leaves her Melbourne home
Another time she went to visit her daughter on Hamilton Island in the Whitsundays and sat on a deep balcony but was hit by too much reflected light.
‘I had to be removed from the island covered in blankets on the flight with all the lights off in the plane,’ she said.
Ms Wilson says EPP has made it impossible for her to live a normal life, instead she lives in the shadows and night time.
‘I live to go out at night, I like parties or having dinner or going dancing with friends,’ she said.
WHAT IS ERYTHROPOIETIC PROTOPORHYIA?
EPP occurs when there is a build-up of a chemical called protoporphyrin in the blood.
The skin is more sensitive to longer ultraviolet wavelengths (UVA) and to visible light.
It is caused by a shortage of an enzyme in the body that normally converts the protoporphyrin into a substance called haem.
As a result of this enzyme deficiency, protoporphyrin levels build up in the blood.
As blood passes through the skin, the protoporphyrin absorbs the energy from sunlight and this sets off a chemical reaction that can slightly damage surrounding tissues.
The nerve endings in the skin interpret this as itching or burning pain, and if the blood vessels are affected, they can leak fluid, causing swelling.
The condition is hereditary and symptoms include developing tingling, itching and burning when exposed to sunlight.
Source: British Skin Foundation
‘Our lives are like a military operation, we have to think about everything we do it, even where I sit on the train, and where the sun will be when it turns the corner.
‘I can’t sit anywhere near a window and I’m very aware at all times of where the sun is and where I can and can’t sit in my house.
‘I used to be safe in shopping centres but now I can’t go near the major ones because a lot of them have put in skylights to they are flooded with natural light.’
One of the worst parts was that because many sufferers like her have no outward symptoms, they are misunderstood as rude or reclusive when they decline invitations.
‘People can’t understand a disease they can’t see. It’s very upsetting for all of us, we’ve cried and been depressed,’ she said.
‘I don’t think any of us don’t suffer from anxiety. I have to ignore the looks I get because I have to stay safe.’
Tiri, from Hamilton, in New Zealand, also gets painful blisters on her skin after just a few minutes outside, in addition to the excruciating internal pain.
‘Every time she went outside, she would scream that she was on fire,’ her mother Gemma Griffiths, 44, previously told Daily Mail Australia.
‘Normally, she starts with a flaming sensation before she forms very large blisters, which can tear her skin. There’s no pain medication, the only real relief is water.’
The condition causes Tiri to become extremely photo sensitive to light, and can damage her liver, skin and potentially other organs if she doesn’t cover up.
‘Deep down inside it’s every parent’s worst nightmare. But we just accept her for who she is. She’s a bubbly five-year-old who has to live slightly different to everyone else,’ her mother said.
When Tiri leaves the house, she’s always dressed from head to toe.
‘She covers up all year round. Whenever she’s outside or sitting near a window, she’s covered in layers of clothes, funny hats, scarves, socks and gloves – even in summer,’ her mother said.
Tiri must be fully clothed from head to toes at all times, as the inflammation can last for hours up to weeks with no effective pain relief available
‘We have to be quite strict, she needs to be covered up at all times. She can’t be exposed to any light, zero exposure. She walks outside with an umbrella even though she’s fully covered up.
‘Even on a rainy day, there’s still light. Just because it’s not sunny, she still can’t go outside. The other day, I picked her up from school and she was all covered up, but within 10 minutes in the car, her face started burning. It was quite a grey day.’
Ms Griffiths said Tiri’s condition makes her life very socially isolating as she was unable to play outside with other children.
‘We’ve even set up a ten pin bowling alley in our home or a paddling pool in the middle of the kitchen – we just have to make it work for her,’ she said.
‘She rides her bike in the garage, plays football with her brothers inside the house, and she spends her lunchtimes at school in a little room with her little doll.’
The pain EPP sufferers experience is even worse knowing there is a drug that effectively cures many patients on sale in Europe and just approve in the U.S.
Tiri, from Hamilton, NZ, also gets painful blisters on her skin after just a few minutes outside, in addition to the excruciating internal pain (pictured with her seven-year-old brother Dyfan)
Ms Wilson was one of a handful to trial the treatment, now sold as Scenesse by Australian pharmaceutical company Clinuvel.
She said during her months on the drug she was entirely symptom free and was able to live a normal life – something she craves to get back.
‘Went to the zoo, the beach, played with grandchildren outside, had coffee outside instead of the very back table,’ she said.
‘Even on boiling hot days I went for long walks in the sun, in sandals – it was an amazing feeling. I led a life that everyone takes for granted.’
Ms Wilson said the moment she would never forget was her first visit to the beach without being so covered up she couldn’t enjoy it.
‘I walked into the water and there were tears streaming down my face because it was something I had never been able to do,’ she said.
However, once the trial ended she was back to her life of constant pain and has been waiting for years.
‘I’m thrilled that it’s been approved by the FDA (U.S. Food and Drug Administration). I’ve been celebrating ever since. I’d almost drown someone to get it,’ she said.
‘It’s amazing that a little Australian company has developed this.’
Ms Wilson was part of a clinical trial that completely removed her symptoms and allowed her to walk outside and go to the beach wearing a bathing suit
Clinuvel chief executive Dr Philippe Wolgen said now that Scenesse was approved in the U.S. and on sale in Europe since 2016, he hoped Australians and New Zealanders could access it within a year.
He said patients have a chemical in their bloodstream that reacts with the light. It becomes fluorescent, and damages the blood vessel.
‘They literally burn from inside. When you give these patients painkillers, even morphine, it doesn’t work,’ he said.
‘Babies can’t express themselves so the parents don’t know what’s happening. It takes average of eight or nine years to be diagnosed.’
Dr Wolgen said the drug acts as a photoprotectant against blue, green, UV light and is injected every two months in hospital.
It contains an anti-oxidative agent that activates melanin, which acts as a barrier by absorbing the light.
‘Drug dramatically changes their lives, they are finally able to have a normal life,’ he said.
EPP disorder affects one in 75,000 to 200,000 worldwide and has about 5,000 cases.