Adrian (Australia)

Type of Porphyria: 
Erythropoietic Protoporphyria (EPP)

Erythropoietic Protoporphyria (EPP) causes me excruciating pain on exposure to sun and wind, and is exacerbated by wind and water once the pain is stimulated. The pain is similar to a normal person having sunburnt skin rubbed with a wire brush. Once the pain is stimulated, even a small movement of my hands through the air is enough to produce extreme stinging. I'm lucky, as I experience the pain mainly on my extremities such as hands, feet and face. But even artificial lighting, such as that in supermarkets and bedside lamps can stimulate pain, especially after I've already been burnt by the sun.

An early diagnosis

I was diagnosed with EPP around 1965, at the age of about five. My family and I were holidaying on the Great Barrier Reef, when first my brother and then I started experiencing extreme pain and started screaming and crying for no apparent reason.

As the problem was ongoing, we were taken to see our general practitioner some time after our return home to Sydney. Luckily, our GP happened to know of a Canadian porphyria researcher who was visiting Australia around that time.

This fellow diagnosed us with the condition after a few visits and tests. We were two of only six people in Australia identified with the condition at that time, so we were pretty lucky, as the diagnosis allowed us and our families some understanding of what was happening. My brother has a milder form, and my sister is a carrier. We still don't know how we ended up with it, or from which side of the family it may have come.

At that time, there was little understanding of the condition, no understanding of the psychosocial implications, and virtually no information or support available anywhere. The approach to managing EPP was purely trial and error by us and our parents. I remember many times when my parents could only watch in horror when I was beside myself with pain as a little boy. Luckily, our parents did not foster or dwell on the negative aspects of the situation. They spent a good deal of time and effort trying to help.

Mum and Dad were, however, unable to offer perfect understanding or support, and coping was difficult. For example, my mother often advised me to "get outside and get some sun on your bones" when she felt I was spending too much time indoors. I also remember many times when my parents would lose patience and accuse me of hypochondria or malingering.

Trying to fit in

Being a child with porphyria in that era was profoundly difficult. The family naturally tended to participate in normal Australian social activities, such as swimming, beachgoing and bushwalking. I tried to go along with the crowd, but suffered feelings of inadequacy or of being a burden on my family and friends.

One of the main problems with a condition like EPP is that is it generally invisible to other people. Others can't see much, if any, evidence of disability in the sufferer, there being no significant evidence apart from perhaps some paleness of the skin. People often see the effort to remain under shelter of trees or roofs while others socialise in the sun as arrogant, aloof or unsociable behavior. My habit of keeping my hands in my pockets to protect them from the sun also attracted punishments from teachers at school, and criticism from other people, who thought this was an expression of arrogance.

School sport was a nightmare, being forced to participate in cricket, swimming, and other deeply painful activities. Any efforts I made to avoid these things, such as wagging sports, or deliberately sabotaging the game (to try and be excluded) were met with formal or social punishments from teachers or other kids. We didn't know enough about handling the condition to enable us to deal more sensibly with the situation, and it wasn't until about year nine that my parents wrote to the school to excuse me from sports.

I was lucky to have friends who, if not actually understanding my predicament, at least ignored or tolerated my odd behaviours. A trip to the beach would find me sitting fully clothed with hat and gloves on, in the car on a hot day, while my mates would be surfing and lolling around in the sun and wind.

As a child precautions I took to enjoy simple activities often attracted criticism or derision. Going for a swim, or a walk downtown, I need to wear long-sleeved shirts and thick cotton gloves in summer. I wear hats, gloves and dark glasses on even overcast days in winter. I've gotten used to the stares and remarks as an adult, and one of the benefits of the disease is that it has taught me to laugh at myself and to appreciate life more keenly. But as a child this was challenging.

Deep introspection

Growing up with EPP was extraordinarily difficult from a psychosocial perspective, although I wasn't really aware of it at the time. I had to spend so much time and effort trying to deal with EPP, that other normal developmental milestones tended to lag behind (per Maslow's "hierarchy of needs"). Friendships, puberty, careers, etc. all took a back seat while I tried to develop a comfortable relationship with my body's limits and eccentricities. Much of my early life was spent in deep introspection, and I must have been very difficult to put up with sometimes. This was especially destructive to tentative adolescent and early adult intimate relationships. Although I do not adhere to any spiritual or religious beliefs, I found the acceptance and awareness of Zen extremely useful in dealing with the pain, discomfort and anxieties of EPP, and I finally became comfortable with myself and life at about the age of 30.

There have so far been no medical or cosmetic treatments that help to any great degree in preventing or reducing the pain and discomfort from light exposure. I was involved in beta-carotene trials as a child, and it may have offered some very small attenuation of the pain, but nothing significant in my case. Heavy applications of zinc creams can alleviate the sensitivity or pain, but this is impractical on hands, feet and face.

Clothes are an interesting source of conflict, especially for kids, or teenagers who may be going through the turmoil of adolescence and the dynamics of body image. The best clothes for protection and comfort tend to be thick, brushed cotton long sleeved shirts and loose fitting long cotton trousers. The clothes generally fitting these descriptions in this country of course tend to be flannelette shirts and cotton drill trousers, neither of which come in fashionable styles or colours. Hats are an integral part of life with photosensitivity, and the only practical hats tend to be thick, wide brimmed "bushie" or "cow cocky" ones, neither of which are terribly trendy or fashionable. Ever tried to find a fashionable pair of gloves to wear? Just wearing long, hot cumbersome clothing in hot, sunny weather itself attracts some pretty weird looks sometimes and certainly stands you out from the crowd in most social situations.

Alcohol is a definite problem for me. Although I have an occasional beer, I feel terrible soon afterwards, and for perhaps a couple of days afterwards. Any alcohol consumption makes me far more sensitive to light for the next two or so days also, and the discomfort from artificial lights such as bedside lamps or fluorescent lights in shops is far more noticeable.

Spending time outside

The only practical option I have for avoiding the pain and damage from light exposure is to avoid the sun as much as possible and to wear bulky, cumbersome, uncomfortable and unfashionable clothing when I do have to go out. This includes gloves, wide brimmed hat, and covered shoes. I can only swim at night, or on very overcast days, but keep to indoor pools in practice. I love the nighttime, as it is the only time I can really relax and enjoy myself when outside.

I love camping and bushwalking, but it's impossible to completely protect myself from the light, no matter how careful I am with my gloves and other clothing. So camping means constant and often excruciating pain and discomfort. I am getting more sensitive to light as I get older, and I find myself staying inside and avoiding going out.

Where I live seems to make a large difference to in the things they can do. When I camped at Cooktown in north Queensland, I found I could spend brief periods around the caravan park wearing no gloves, and only thongs on my feet. I once moved to Tasmania upon advice from friends that the weather there was usually deeply overcast and raining. I was very surprised and disappointed to find that the sunlight in Tasmania was much more intense, stinging much more and limiting my outdoor activity far more than more northern areas on the Australian mainland. I have found the easiest areas for me to live are the eastern coastal areas of New South Wales and Queensland, with their low elevation and higher atmospheric moisture.

I am the father of a young boy, so as well as the practical things like having him screened for EPP and trying to teach him about sun safety, I have to make a strenuous effort to help him do all the normal things a little boy does. He shows no signs so far of having EPP, and his life is far more normal than mine. I often grit my teeth and put up with the extreme pain and distress involved in going to school carnivals and outdoor sports. Taking him and his friends camping can be challenging, mainly because the children don't understand my self-protective behaviours (staying in the shade, wearing gloves, etc.).

People don't generally ask me anything about the condition, as it is invisible to those who do not know me well. I usually just say that I "burn easily" or that I'm "sort of allergic to sunlight." It can be very frustrating trying to explain the condition, as a common response is "oh yeah, I burn really quickly too."

Finding a sun-safe career

Most jobs I have had have been heavily affected by my EPP. Driving for a living was extremely difficult, as it's a bit like being trapped in a glass box in the sun. Public passenger vehicles were particularly challenging, as it requires a pleasant presentation and manual dexterity-gloves and head coverings are out. One of my most successful outdoor jobs was as an herbicide operator-the work required gloves and face coverings, and often complete covering with overalls, hood, long boots and gloves.

I finally took up nursing at the age of 33. I felt nursing was a way I could fuse my love of the bush with my physical limits-I intended to work my way around the country as a remote-area practitioner. I could see the country but generally indoors. EPP also gave me empathy for people in distress-I had volunteered with disabled people and found it extremely fulfilling. Finally, learning about physiology and psychology were overwhelmingly powerful attractions to me, and I was conscious that this was largely due to my wanting to find out about myself.