British 
BPA Member's Experiences
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Elizabeth's story (AIP)
Elizabeth's story
Throughout my childhood, I thought I was going to travel the world, but when I developed symptoms of Acute Intermittent Porphyria at 18, my dreams were dampened slightly.
Fierce pain, paralysis and sickness took over my body, and for week's doctors seemed to think I was either making it up, mad or anorexic. Eventually they discovered it was Porphyria, and it was inherited from my father. We had never heard of it, as my dad had never suffered symptoms, and neither had most of the medical staff. We began a very steep learning curve, as did the doctors.
We learned that antibiotics prescribed for a minor infection, had probably triggered it in my case, but after that, I generally suffered attacks in my pre-menstrual period. These attacks varied in severity, but the pain and vomiting were omnipresent features. My weight gradually dropped, as I was unable to regain it in the short periods between attacks and eventually these monthly attacks took their toll. I had a severe attack that led to almost complete paralysis, which meant I needed assistance to breathe and a feeding tube. This time was frightening for me and terrible for my family, but the nursing staff in Intensive Care, were very reassuring. Over the next 18 months, the paralysis subsided and I returned to my regular monthly attacks.
Although able to bring me out of attacks with Haem Arginate, the doctors have struggled to try and stop the attacks happening at all. After many experimental treatments, we have in the last couple of years hit on one that appears to be working. I now have Haem Arginate on a weekly basis and I have only had a few attacks this year.
Although still a bit wobbly when walking, I am only 29, and after 11 years of ups and downs, I have just got a Masters degree and I am now trying to set up a small freelance proofreading business. I want to emphasise that without my family to encourage me and care for me, I would never have got to this point of looking to the future with optimism.
Linda's story
In my late teens I was often unwell violent stomach pains constant vomiting followed by excessive tiredness, mood change and depression. Is it drugs or is she anorexic they asked? No it's her life style; she'll grow out of it they said. How wrong and how right they were, drugs? No, anorexia? No, but crazy teen lifestyle that could have been potentially life threatening? Yes.
Years passed I married and became pregnant, joy turned to fear as Ectopic pregnancy, then Appendicitis was diagnosed, miscarriage seemed inevitable if surgery took place. A glucose drip was provided, to aid re-hydration in preparation for surgery. Within hours a decline of symptoms was observed, within days a full recovery, the pregnancy continued and a healthy baby boy was born.
Two years later following the birth of my second son, I was immediately admitted back into hospital with suspected food poisoning. Following administration of an intravenous drip, to aid re hydration a recovery quickly occurred. Diagnosis was never clarified.
With two young children, foster parent to two more, a husband away a lot life was pretty hectic. I began to suspect I may be anaemic or have postnatal depression, I had similar symptoms.
My GP although supportive in the beginning, after tests proved inconclusive basically told me to pull myself together, I was a healthy young woman, there was nothing wrong with me.
I began to feel very low, began to think I was going mad, that I must be a hypochondriac, was I imagining the feelings that I was experiencing? The weakness in my limbs, the shakes the palpitations and breathless, the stomach and back pain. What was making me vomit? Why did I feel the sun was shining one minute and the sky was grey the next.
The answer arrived, my cousin who had recently given birth to her third child following a considerable gap from her other two children, had became unexplainably critically ill, relatives were informed, an aunt who had been abroad came to visit her niece.
My aunt had years earlier been diagnosed as having acute intermittent Porphyria, she had been advised not to have children and had moved abroad with her husband who was in the forces. The effects and treatment of her illness were never discussed.
On seeing her niece my aunt immediately suggested Porphyria as the cause, the medical team sought advice; suitable treatment was given and after a considerable length of time my cousin made a full recovery.
Following this diagnosis and a progress in medical science the entire family (which is considerably large) were invited for screening. Consequently tests, not DNA which was unavailable at the time, confirmed that I, like many others in my family have AIP. It was a relief that a name had been given as it probably accounted for many of the symptoms that I was experiencing. I did not then realise how little was known or how hard it would be to obtain advice or information on managing AIP. Although I had many relatives with the same condition, many were latent sufferers and some in denial, until recently mental health implications made the illness a taboo subject in the family.
Following diagnosis I began to suffer considerable stomach and back pain gynaecological complications were diagnosed, I had a hysterectomy at the age of 28. Surgery was performed without consideration being given to my inherited condition, I was consequently very ill. (It has subsequently been questioned as to the need of such radical surgery.)
Time passed although often unwell my own and medical awareness began to grow. Information via the Internet and appointments with specialists helped me to begin to understand and make informed decisions with regards to management of my condition. Joining the BPA original committee group eased isolation.
During my late thirties I was extremely unwell, often needing to be admitted into hospital. I was working in education and had been for the past 10 years. Schools have a rigid timetable, responsibility, makes you push on. Something had to give. I ended up changing my job, which was not easy.
I am now employed as an 'outreach project worker' for children and families, an equally demanding job. However, I have learnt to prioritise and this type of work allows me to do just that. I can alter appointments and schedules to fit in with any symptoms I may be experiencing. I have learnt to listen to my body and I have also become better at saying 'no' and 'slowing down', whereas before I only stopped when ill.
I am now in my mid 40,s taking H.R.T. and possibly completing the menopause things are looking good. Yes I often feel ' a bit unwell', but am no longer a regular in-patient at our local hospital. Biological or environmental, who knows? Whatever the reason I recommend getting older, it certainly appears to agree with me and lots of other AIP sufferers that I have spoken to. Some older members of the family, in their mature years, can even tolerate the odd glass of alcohol without effect, so to all AIP sufferers I would just like to say 'don't look back, just look forward to getting older'.
CHEERS!
Sarah's story
When I was born back in May 1970 I was a miserable baby, being a summer baby my parents used to put me in my pram in the sunny garden little knowing that it was probably that making me miserable! No one knew what was wrong with me and why do I keep waving my arms around?! I was diagnosed as having hay-fever, which my parents thought wasn't the case but thought the doctors knew more!
When I was four I was finally given the diagnosis of having Erythropoietic Protoporphyria - a condition which even to this day I can't say, let alone spell..!
Well, what does having EPP mean to me, in a nutshell it means not being exposed to the sun. Luckily for me I live in England and we don't have all that much sun here! I am not able to go in any bright light (UV) which makes the summer the worse time of year although really anytime from March until November is difficult. I use factor 60 sun screen, an umbrella and cover up with long sleeves, wear trousers etc - which all makes me very hot and irritable, I can tell you!
When I tell people I can't go in the sun the first thing they ask is "where do you go on holiday?" I always reply, in the winter in England! But I don't really miss holidays it's simple things I miss or get annoyed at not being able to do, like being able to take my kids on summer picnics (during the day as opposed to going in the late evening or in winter!), being able to watch their sports days at school and even chatting with other mums at the school gate. Late night shopping is great during the summer for me as it means I can load and unload the car slowly rather than throwing things in the boot and rushing indoors! I suppose more people are aware that the sun is bad for everyone so it means there are items such as high factor sun creams available in high street chemists now. We also have the big shopping malls all indoors and undercover so I can still shop...!!
When I have caught the sun I'm in a lot of pain and discomfort, my skin feels like its burning but at the same time I don't like it getting cold or too hot, anywhere I have been exposed swells up - it also zaps my energy and I feel so tired, I tend to lay down with an electric fan blowing cool air on me. My hands have toughened up over the years and they manage to cope with a bit of sun. A couple of years ago I caught the sun pretty bad in October in England and my face scabbed, leaving a few scars.
I have two children, Ryan (13) and Eloise (5) and they don't have this condition, which is great and the only time it affects them is the embarrassment of walking with me and my brolly!
I suppose over the years I have learnt to cope with this and being a person 'whose glass is _ full' I always think that there are so many other ailments and problems people have that not being able to go in the sunlight really isn't a big deal.
Haem Arginate Experiences
Detailed below are stories from three patients who regularly receive Haem Arginate treatments.
Robert reports:
"For the first three years I spent most of my time in hospital, then by chance I heard of this new treatment from a patient on another ward. I told my consultant about this and as a result I was treated with Haem Arginate, one a day for four days, whilst hospitalised for about a fortnight. The treatment I had whilst having the attack shortened the length of the time I was having to stay in hospital. Even though I had this treatment in hospital I still had regular attacks every month. This went on for two years. So it was suggested by the consultant that I have Haem Arginate on a weekly basis and have been for the last five years. As a result of this my hospital admissions have been decreased to roughly three a year."
Kim reports:
"I was given Haem Arginate throughout my pregnancy as I was under attack during most of it. As soon as I was taken off it my porphyrin levels would shoot straight back up. To make matters worse, they didn't know what effect it might have on my unborn baby. I had my daughter 4 weeks early and she was quite healthy, without any effect from the Haem Arginate. The day I had my daughter I had one final dose of Haem Arginate and then 2 weeks later I had another 2 attacks. I have it once a week now and I feel great. I have a hickman line in now, as prolonged use of Haem Arginate has caused some problems finding veins for infusions. I know it is expensive but it really does work for me. If I am under attack and I have an infusion, within about 12 hours my pains go away."
Elizabeth reports:
"My experience with Haem arginate has predominantly been a good experience, with many successful outcomes. In my experience it is more successful when used early in an attack, the sooner I get the treatment, the less time I seem to spend in the attack, and the severity of symptoms is often decreased. I am now having a one-dose infusion of Haem arginate once a week in an attempt to prevent attacks which require hospitalisation happening once a month, and sometimes more. It is too early to rate the success of this, but it looks optimistic at the moment.The only real side effect has been vein inflammation and phlebitis, which has led to many veins in my hands and feet becoming unusable after many years regular use. I now have a portacath and so do not have this same problem. Overall, my experience with Haem arginate has been very positive, however, I feel that a high carbohydrate diet and good hydration is necessary to work with the drug and maintain its full effect."