By Carol-Lynn Croker
12 Jun 2021
At the age of 23, I was officially diagnosed as having the hereditary disease Variegate Porphyria, otherwise known as VP, Porphyria Variegate, South African Genetic Porphyria or as some have called it “the vampire disease” .
Variegate Porphyria is an autosomal dominant porphyria that can manifest in acute form, sometimes severe, in most cases the symptoms are not long-lasting, however it's important to note that this is a chronic disease and there are many who will suffer throughout their lives or have recurrent flare ups and attacks despite taking care to avoid suspected triggers because in reality although there are a common list of triggers, this is too broad a term to apply it across the board. This is not a one size fits all disease and sometimes we just don't know exactly what could have triggered an attack.
The characteristics of VP is either photosensitivity or manifestations of acute neuropsychiatric attacks or possibly both forms.
The attacks are said to include, abdominal pain, vomiting, constipation, tachycardia, hypertension, psychiatric symptoms and, in the worst cases, quadriplegia. Oftentimes acute attacks can be precipitated by inappropriate drug therapy, and this can be potentially fatal.
People with Variegate Porphyria are extremely sensitive to sun exposure, if you have the cutaneous VP (skin reactions), this results in the development of skin blisters and sores when exposed to sunlight. Sunlight is not the only enemy, because of the level of photosensitivity this can cause one to be hypersensitive to some artificial lights such as fluorescent lights.
The acute Variegate Porphyria is a rare congenital condition, affecting heme metabolism due to a defect in the PPOX gene, which in turn causes a defect in the production of heme in the liver or bone marrow. In the case of Variegate Porphyria, which is a hepatic Porphyria, meaning that the accumulation of Porphyrin compounds accumulate in the liver.
In medical terms the disease results from low levels of the enzyme responsible for the seventh step in heme production.
Simply put, haem is a necessary molecule required for all of our bodies organs, its a component of haemoglobin which helps carry oxygen throughout the body, also being responsible for the pigment that gives our red blood cells their colour. It plays a vital role in helping in the formation of several other important proteins found in all body tissue, however mostly in the red blood cells, bone marrow and liver.
In order to produce haem, our bodies need to convert two substances called aminolaevulinate acid (ALA) and porphobilinogen (PGB), known as porphyrin precursors into a compound called porphyrins which in turn are converted from one type of porphyrin into another to form haem.
The steps in this process, or ‘pathway’, are carried out by seven specialised proteins known as enzymes. If you inherit or develop a defect (deficiency) in these enzymes, the process may not work properly and can cause porphyrins to build up in your body. It is the build-up and accumulation of these porphyrins which are responsible for the symptoms either involving the nervous system or skin manifestations or both.
It is a complex disease with varying characteristics and no two people with the active disease necessarily exhibit the same symptoms or to the same degree. Some sufferers may only show the skin manifestations whilst others have both. It can also differ in severity, having debilitating effects on the individual and their families. Some may go for several months or years with the condition in “remission” only for it to become active again due to environmental factors.
When symptoms occur, they can include acute attacks or skin damage. Acute attacks usually begin in adulthood and cause abdominal pain, vomiting, diarrhoea and constipation. During an attack, a person may also experience muscle weakness, seizures, and mental changes such as anxiety and hallucinations.
These signs and symptoms are triggered by nongenetic factors such as certain drugs, dieting, or fasting, certain hormones and stress. Some people with Variegate Porphyria have skin that is overly sensitive to sunlight (photosensitive). Areas of the skin exposed to the sun develop severe blistering, scaring, changes in pigmentation and increased hair growth. Exposed skin becomes fragile and is easily damaged.
This explains the expression of “Vampire disease” because some are so affected by Porphyria that they often have to avoid the daylight at all costs, living indoors with blackout curtains that will allow no sunlight to penetrate. Unable to venture outside lest they become violently ill and their skin is affected by exposure to sunlight, they only venture out at night. Only a small percentage of those with Porphyria will have it to such an extreme.
Variegate porphyria is highly prevalent in South Africa, estimated to affect around 1 in 300, affectin mostly those of European descent. The disease in South Africa has been traced back to 1688, when two Dutch settlers who arrived in South Africa, Gerrit Jansz van Deventer and Ariaantje Jacobs got married in Cape Town. There is uncertainty as to which one of them were the carriers but what we do know is that this was the start of the spread of the gene in South Africa.
The result of a founder effect has been confirmed genetically as a single point mutation (R59W ) which has been described in nearly all South African variegate porphyria patients studied, a low-penetrant autosomal dominant inherited disorder of haem metabolism.
It is necessary to say that the above statements offer a textbook illustration of Variegate Porphyria and the symptoms, delve a little deeper and you will begin to understand that in fact nothing about this disease is textbook. There is so much that is not known about this disease, it is listed as a rare disease and individuals have often had to research for themselves and learn by trial and error on how to copes with the daily struggles of living with Porphyria. Take the brain fog, body aches and pains, reactions to food groups that can trigger bouts of painful stomach cramps, the mental and physical exhaustion, headaches, migraines, nausea, …. I can go on and on, yet several publications will emphatically tell you that in general people with Porphyria can eat most foods, yet in speaking to others with the same affliction we seem to often have common ground when comparing notes that several triggers are not on the recognised list of “triggers”.
I have come to understand that we don't just need to suffer an “attack” for symptoms to be present, we all have different ways in which we react to various environmental triggers, we may suffer unexplained aches and pains without cause or reason, we may feel continually fatigued, and no we are not necessarily having a major attack, just like other chronic diseases there are things which we face which have no real reason for manifesting but then the questions I ask myself are “why am I always tired?” My iron levels are not low, I am eating well so again the question…. why? There are no underlying reasons that even a thorough medical evaluation can uncover. I suffer from anxiety, it started in my late teens, just out of the blue, often I will suffer from a loss of balance, my coordination is just totally off …. sometimes I find myself walking in a straight line, then suddenly veering off to the left or right, thinking how darn clumsy I must appear. I love the hot climate of Africa or other continents, yet this type of heat especially if it is humid can make me feel ill, almost like sunstroke, my legs and ankles, fingers swell with accumulating fluid, still I will put on a brave face and get on with it because what else can I do?
Yet other days, weeks even months are perfect, no problems ……Sometimes you even think you have imagined it happening. Everyday life can be a challenge, sometimes small other times larger than life itself.
The struggle to stay focused, concentrate and feel in control of yourself is both emotionally and physically draining. With me its either all or nothing. I tackle everything I undertake with an absolute obsession, giving 110% of myself to these tasks only to come crashing down and experience a total switch off weeks, months or years later. Hobbies are short lived, I lose interest in a project halfway through and then move on to something else. To keep focused takes energy, mental and physical!
Trying to put my thoughts into order, sometimes I can astound myself with my capabilities because of what I manage to achieve in spite of the battle, other times I am completely overwhelmed. I need to have order and structure even though its difficult for me to attain this because without it I become overwhelmed. I have scraps of paper everywhere to remind me of things I need to do, then I cant find the one I need because it gets lots in the muddle of papers, a bit like my brain feels most times.
School was a nightmare for me, having to think on demand such as when you are told to stand up in front of the class whilst your math teacher decides to ask you to say your 3 x Table! It starts off well enough but then what comes after 4x3??? so I would break out in a sweat and stumble over my answers and not able to put my thoughts into any order. Well that's been the story of my life. Struggled to cope at school, struggled to retain information, struggled to work out basic concepts and filter out unnecessary distractions. I would try so hard to study and retain information, parrot fashion learning never worked for me. I need to understand the concept and then I can retain the information. Sounds easy enough right? Not so, the battle for me is to get my head around understanding the concept in the first place!
I learned to accept that I had "learning difficulties" yet when I had to undergo any sort of IQ tests these would come back with no real proof of a learning disability so then the term "just a lazy learner" is coined and that's what you are known as. Try getting a school psychologist appointed by the department of education to understand that you are trying, really trying hard but nothing makes sense!! Unfortunately (I called them the Men in Suits) never got it and so I was let down by many failings in the system. By labelling someone as a problem child when they are not means that often one will start to act like the label they are given.
Growing up and having the feeling that your thoughts are so overwhelming that you spin out of control at the least little thing.
Most of us look healthy on the outside, we do not all fit the mould of looking ill all the time, so you may never know talking to us that we may be in pain or discomfort. I have gotten so good at dealing with ongoing discomfort that I just get on with it and I push it to the back of my mind.
My story starts during my late teenage years. I was extremely fortunate, not being afflicted by the onset of teenage acne, pretty much sailing through puberty with none of the social awkwardness brought about by teen acne which several of my peers suffered from.
I did stupid things like sunbathing and getting badly sunburnt with the accompanying blisters that usually followed but back then, in the mid 1970’s living in South Africa as a 10-year-old with so much sunshine year round not much was known about the damage of the sun’s rays, SPF or Sunscreen.
I started working at the age of 15, doing an apprenticeship in hairdressing. It was several months into my apprenticeship that I noticed the skin on the back of my hands were a little drier than normal….but that was to be expected, part of the job of being a hairdresser, constantly washing clients hair, with ones hands continually in contact with water.
I used several lotions and creams whilst working at the salon in between washing client’s hair to keep my hands moistened. This seemed to help to keep the dryness under control, but it was usually short lived.
As most 15/16-year-olds I was very conscious of my appearance.
Several months turned into a year, by now I noticed that during the summer months the skin on the back of my hands had started to develop tiny blisters.
The blisters would eventually burst open, the clear liquid seeping from the open blisters left a brief burning sensation on the exposed areas of skin, the inevitable lesions followed and then scaring, leaving blemishes which were small & purple in colour, much like that in the picture.
My late mother, a keen enthusiast and user of vitamins and natural herbal ingredients gave me Vitamin E oil to apply to the scars in the attempt to lessen their appearance.
I was puzzled as to why the lesions would take months to heal and subsequently, I tried all sorts of home remedies, coupled with continuous visits to the doctor because my skin became infected…. whatever was out there I tried it. This went on for several years and as you can imagine the blistering and lesions, infections from the open and slow to heal sores worsened and then I started to get the blisters on my feet and other areas of my body where the skin was exposed.
My forearms blistered then itched like crazy, the itch was so intense that I scratched till the skin was raw, on occasions it would be one forearm, other times both. I tried to recall what I had come into contact with over the past few days or hours that could have triggered this but nothing untoward stood out. Inevitably infection would set in from bacteria, my forearm would be swollen, the skin raw & weeping. The pain from the infections were terrible.
Another visit to my GP to treat the infection (by now my skin flare-ups were unofficially diagnosed as Hives), antibiotics for the infection, cortisone creams and topical steroids, you name it I had it.
When I was a young child, I had several allergies. I couldn’t visit friends or relatives with cats, I wouldn’t even have to touch the cat just being in that environment for a few minutes, my eyes would start to itch (I would rub at them tentatively, culminating into a frantic rubbing), they would turn a nasty shade of pink, swell up & water like crazy. My chest would feel tight and I would sneeze uncontrollably. Cotton wool pads soaked in milk and placed over my eyes by my mother provided temporary relief from the itching and helped get the swelling down. I was allergic to a concentrate cooldrink, these were packaged to resemble a fruit such as a grape or orange and the colours were so vibrant what child would not want one of these? I would look longingly at these and beg my mother for one, within minutes I would get that horrible tightness moving across my chest, my chin for some weird reason would start to itch like mad but the worst was the tight chest and wheezing that followed.
I seemed to suffer from several health problems growing up, episodes of severe bronchitis where our family doctor had to make house calls late into the night (doctors did do that back then) to come and listen to my wheezing chest, I can clearly recall the panic I felt by struggling to breath. I contracted pneumonia at age 8 and was ill for several weeks. After a weekend family excursion, I ended up with tick bite fever around the age of 11, again I was ill for several weeks. I developed repeated bouts of glandular fever which would flare up, again the result would be several weeks of illness. My early teenage years saw the start of stomach cramps and gastro-enteritis flare ups brought on by goodness knows what food or drink I had consumed. A burst ulcer in my mouth which caused rampant infection and again, months of time off school recovering. In between this I battled the bouts of bronchitis which I got often, the recurrent glandular fever, bouts of pleurisy, pneumonia again. Repeat play, repeat play seemed to be the order of the day.
Going back to the situation with my skin blistering, the logical conclusion made by the medical profession was that I clearly suffered from many allergies based upon my childhood history, including eczema, contact dermatitis so the resulting hives were probably caused from grass or pollen especially given that I had been outside gardening.
Do not misunderstand me, my life did not constitute walking around in a constant state of perpetual agony, or that I had these afflictions every day, far from it. For the most part, I only had severe flare ups affect me for a few months of the year. Of course, the skin on my hands remained very delicate and often just a slight bump would result in broken skin followed by a lesion, but life goes on and I did not dwell on it much and never let it interfere with my daily life.
By now I was married with a new baby to care for so trying to find the actual cause of my skin problems took a back seat. I was reasonably healthy whilst pregnant although I did have a few bad urinary infections and a bout of pleurisy when I was around 5 months pregnant, I was prescribed a course of antibiotics by my GP at the time, with instructions to rest.
At around the 6 months pregnancy mark I woke up one morning with a terrible headache, which soon turned into a migraine. Unable to lift my head off the pillow or face bright lights, I was bed bound, severe nausea accompanied by bouts of vomiting followed. A few days later I was fully recovered and back to normal health again.
I was 8 months pregnant when during a routine visit to the gynaecologist they picked up that my blood pressure was extremely high, and I was admitted to hospital for bed rest and so that I could be monitored. In hospital my blood pressure continued to rise, and I developed terrible headaches. The idea was to try to reduce my blood pressure sufficiently by trying various meds and bed rest so that my unborn baby’s lungs would have a chance to further develop, however even under constant monitoring, when my blood pressure continued to climb after a few days my medical team made the decision to induce labour. My son was born 3 weeks premature, very tiny but fortunately his lungs were fine.
At some point around the time my first born was 3 months old, I remember with such clarity the day I reached up to take down a mug from the shelf in my kitchen cupboard. I am right-handed so this being my predominant hand clasped the mug, then suddenly without warning the cup seemed to fall from my grasp. I still recall thinking how clumsy that was. This happened a few times over a couple of weeks.
It started off with dropping things, then knocking items over with my right hand or arm. My fingers seemed to have no grip, or extraordinarily little and the ability to hold onto anything for even a short time became impossible. Even stranger, only my right side was affected.
By this time, my right leg started to display strange characteristics too, suddenly lurching out to the side whilst I was walking or even sitting down. I saw the humorous side, laughing at my plight, (it was quite funny…like being a puppet, and the puppet master was pulling the strings, so my right arm and right leg jumped about all over the place). Something was seriously wrong though, the right side of my face started to get affected too…. no longer could I put this down to plain old “clumsiness”.
A visit to my doctor, who did a thorough examination and medical history check, thought the condition remarkably like St Vitus Dance, the medical term for this is Sydenham’s Chorea, a disorder characterised by rapid and uncoordinated jerking movements affecting the face, or limbs. He arranged a referral to a neurologist for a second opinion.
There are two medical professionals, who have had a major impact on my life, to this end I have the deepest respect for them, one I undoubtedly owe my life to, the other brought an end to the suffering and unanswered questions that plagued me for so many years I will be forever grateful to these two gentlemen, whom I encountered at different stages of my life, but both had a profound impact. One of them being my neurologist, whom we shall call Dr X.
Various neurological tests were done in Dr X’s consulting rooms, a review of my medical history, any other medication I was taking, how long had I been taking this and the dosage etc. No, I told Dr X, I was not taking any medication, unless one counted the contraceptive pill. Dr X was genuinely concerned about the possibility of a tumour being present in my brain and causing pressure resulting in my present condition. I was admitted to hospital immediately.
A CAT scan and lumbar puncture was scheduled for the afternoon of my admission to rule out several possibilities. Having a CAT scan and being told to keep still was quite a challenge when you have no control over your limbs and are unable to stop them from jerking about… no mean feat. Then it was back to my room for the next procedure, the dreaded lumbar puncture.
A lumbar puncture is performed using a thin needle inserted into the spinal canal between the vertebrae to collect cerebrospinal fluid for diagnostic testing, to help diagnose diseases of the central nervous system including the brain and spine.
One of the side effects following this procedure is headaches which can last from a few hours to weeks, bruising and tenderness at the site of the insertion point.
Within a couple of days, I had gone from a possible diagnosis of St Vitus Dance to a possible brain tumour. The mind is an immensely powerful organ, when you find yourself lying in a hospital bed all alone, with nothing else to occupy your thoughts, the ability to conjure all sorts of terrible scenarios manifests itself. Here I was with a young family, a husband whom I loved dearly, a 3-month-old baby and I had visions of only having a few months to live, wondering who would care for my baby, would I be able to have treatment or would it be too risky, what about the pain and how was I going to get through the next few days never mind the next few months.
To say I was petrified was putting it mildly.
The harvested Spinal fluid had been dispatched to the laboratory for urgent testing, with the first results due within 24 hours and the remaining ones in 48 hours.
The results from the CAT scan were in, at last some good news! No signs of any mass or tumour present. Things were suddenly not so dire after all.
Dr X, a dedicated doctor, true to his profession, with an abundance of compassion not only for his patients but their families too. He went beyond the call of duty, checking up on me following the various medical procedures and again that night before going home.
The following day Dr X cheerfully strolled into my hospital room with what he said “very tentatively” may provide some insight to what he thought could be the cause or contributing factor for my condition, he emphasised that this was only based on what he had found whilst researching and it was not a diagnosis but with not much else to go on, he felt that it was worth a shot. He spent most of the night and early hours of the morning sifting through medical journals and research material.
Following the birth of my baby, I was put on the contraceptive pill, given that he was only 3 months going on 4, the initial symptoms had started after a month of being on the pill, the longer I had been on this the worse the symptoms got. When going through my medical history and noting what current medication I was taking whilst in his consulting rooms, I had told the Dr that I was taking the contraceptive pill. Something about this information had remained in the back of his mind, so when the results from the CAT scan came back negative for the presence of a tumour and bit by bit the other test results trickled in from the spinal fluid extraction, Dr X decided to dig a little deeper into the contraceptive pill.
During his investigations he found some medical studies which indicated that some women had experienced different reactions to the pill which had been documented, for want of a better word the doctor suspected that I had an “allergic reaction” . I was told to stop the pill immediately; and keep a daily record monitoring my symptoms to see if there was an improvement and to what degree. We would arrange follow up visits to the consulting rooms where we would track the progress and see if there were any improvements.
I was discharged from hospital, to continue my recovery at home. I struggled with headaches following the lumbar puncture for several weeks. Unable to care unaided for my baby, I couldn’t pick him up or hold him with my right arm, or make his food by myself, or change a nappy single handed whilst fighting to control my limbs that jumped around like a puppet, I relied heavily upon my immediate family members, taking it in turns to help out for several weeks, until I gained some control over my limbs.
I stopped taking the contraceptive pill, slowly over time I regained full control of my limbs, had my regular check-ins with Dr X who monitored my recovery.
It took around 6 months for me to be able to write half a page without struggling to control my hand, pick up a cup and hold it and regain full control of my limbs.
But…. I was still no closer to finding out why my skin was so sensitive, why I kept getting these blisters, the fact that lesions took months to heal and the flare up of eczema like itching.
For several years this continued, my skin itched, I scratched, resulting in weeping lesions which by now covered several areas of my skin, leaving scarring. I would be cleaning the house and accidently stub my toe against the edge of the table, only when seeing my bloodied toe, a short while later did I realise that I had cut my toe open quite badly.
Oftentimes I would not feel any pain if I bumped into something and cut myself on the sharp edge and other times, I would feel pain but not necessarily correlating with the level of severity of the injury.
The blisters spread to my face, resulting in sores developing on my face, I started to develop acne which was like abscess underneath the skin. My arms, my feet, my neck. I have one scar right by my throat, it covers the area roughly the size of 2 x 50p coins side by side. People would often think I had a tracheostomy, a medical procedure where an incision is made in the windpipe to insert a tube to aid breathing. I went from Doctor to Doctor, I cannot even recall how many medical professionals I saw since the onset of this condition, not one was able to provide a solution or an answer.Enter the next Dr who saved my sanity and gave me the answer and a name to what was wrong with me.
Dr W, a dermatologist having contributed significantly to several medical articles on dermatology in South Africa, he came highly recommended and so here I was off to the next appointment. Several blood tests, urine, and stool samples later I was summoned to Dr W consulting rooms. “I have good and bad news for you” (my immediate thought was NOT AGAIN).
“The good news is we have a name for your condition, you have “Variegate Porphyria.”
Simply put I had a hereditary disease called Variegate Porphyria of which I had no prior knowledge of this being prevalent in our family. I was referred to one of two specialists in the disease at the time, given a booklet on Porphyria and told to stay out of the sun, cover any exposed skin, wear gloves when outdoors and a wide brimmed hat and to check the colour of my urine (if it was the colour of red wine, I was having an attack and must go to hospital). I was told about genetic counselling, given the names of a few people who had VP and could offer support, there being about a maximum of 6 people throughout the country and only one who lived reasonably close to me and whom I could never seem to contact, so I pretty much battled on my own. I was also told to contact family members and try to trace the origins within my family.
On further investigation over several weeks of tracking down extended family members it transpired that the disease was on my fathers’ side of the family. A couple of my great aunts had it, but it was never openly talked about or discussed, almost like it was something to be ashamed of. The sad part of this is that much of my suffering could have been avoided had this been spoken about in our family, instead of keeping this a secret if my father had disclosed this whilst he was alive, I would have been aware of the potential side effects of medicines, I would have ensured that my doctors knew about the disease when treating me.
I went through a stage of being so angry, angry at my father for not openly discussing the disease, for not telling my mother even. I ranted against the universe questioning why me, why had I been born. I became rather reclusive after being diagnosed, staying indoors most of the time, venturing outdoors in the late evenings or early mornings.
After trying unsuccessfully to live like this and being thoroughly miserable I then did a full 190 degrees, in the opposite direction. I decided I was going to stop feeling sorry for myself, the why me questions became the why not me? What was so special about me as opposed to the next person, there was always going to be someone worse off than me and I made a continuous decision then to get on and try to live a normal life, that meant spending time outdoors, not bothering to cover up any exposed skin. I would go to the beach and enjoy a day's outing with my children, I continued to smoke a pack of cigarettes a day, I would not let this disease control me.
The one thing I did do was to stop drinking all forms of alcohol completely though I continued to smoke until the age of 30 when I was warned that if I didn't stop smoking I wouldn’t live long enough to see my eldest child get married. The result of this rebellion means that today I have so many scars on my arms, my hands, my chest. I did not control my stress levels (oftentimes I was the course of my own stress) hence I battled with severely itchy skin for most of my life, scratching until the skin was raw and bled. Stress would trigger the itching; it became so bad a few years ago I had scratched my back raw and the lesions would not heal because of the continuous itching. I kept scratching and the sores would start to bleed again. This lasted for 2 years. I have dealt with brain fog since my late teens and this has not changed over the years in fact it's got worse. Then again, I am stubborn so I use every effort of will power to prove I can overcome the brain fog. I have studied and gained several qualifications over the years with great difficulty, but I did it.
My last pregnancy in the years following my diagnoses was exceedingly difficult. I was pregnant with twins, my hormones were all over the place, I suffered from extreme heartburn, I had oedema and my legs, feet, arms and hands were badly swollen and I suffered from high blood pressure (preeclampsia). Fast forward many, many years later, going through perimenopause battling with insomnia, hot flashes, more brain fog and just a general feeling of not being all that healthy yet not being able to put my finger on any one specific thing that was a contributing factor. I knew that I would not be able to take any form of hormone replacement so what choices were there. Put on a happy face and …. suck it up.
In hindsight that's easier said than done though, what do you do when something becomes so unbearable and starts to affect your life? The struggle to just function normally eventually catches up with you , when day in and day over several months or more of feeling below par, the constant insomnia, uncomfortable hot flashes,( I can only describe the feeling as though internally your body was on fire and you couldn't do anything to stop it), going from hot to cold and back again in a matter of minutes, the memory lapses, the fatigue, not forgetting a whole host of other symptoms, well I soldiered on, (certainly not bravely) for quite some time. Eventually even the bravest of us will reach a breaking point, you are worn out, you cannot comprehend that in this day and age a change of life event that all women will go through at some point in their lives, some with more ease than others cannot be “cured” with a snap of your fingers.
I caved! In desperation I booked an appointment with my GP, explaining how I was struggling, the lack of uninterrupted sleep was having a profound impact on my ability to function productively at work. “I have just the thing for you, it won't be as effective as hormone replacement, but it should help a little to alleviate some of the symptoms. Try it and see what you think, if you find it works then I will prescribe it to you monthly”. I questioned the doctor about the drug’s safety for VP, probably umpteen times. “Yes, it's perfectly safe for you otherwise I wouldn't have suggested it!” was my doctor's response.
I recall leaving the doctors surgery feeling very reassured. I got my prescription filled and a month later I reported back to the doctor with positive results. This medication worked wonders, I felt well, rested, the hot flashes had drastically reduced in both numbers and severity, I was able to cope better, I could deal with one or two mild symptoms because they were just that…. mild... .. I had my life back again and it was all thanks to this wonderful little blue pill (Porphyria brain fog means I cannot recall the name of the drug)
Now things either happen with a sudden onset or they happen gradually, you do not notice immediately that there is a change because it takes place so slowly, over time and then BANG one day you just feel completely out of sorts. Anaemia is another one of those little irritations I have suffered from so when I started to feel lightheaded and tired beyond belief, I went back to the GP for a blood test. The result of the blood test revealed I had severe Anaemia, he was not happy with the result and was put on a course of Iron tablets with instructions to return a week later for another blood test, which I duly did. I know what the drill is because I have been through it all before.
During this time, other strange things started happening, my legs, most notably the calves seemed to have swollen slightly, taking on a puffy appearance with a loss of healthy colour, the skin was very pale and almost had a tinge of blue. I put it down to bad circulation but when I noticed numbness and tingling sensations in the following days I really started to worry. I pressed my fingernail deeply into the skin on the side of my calf, not feeling anything, I pressed deeper, leaving a definite imprint in the skin, still no feeling. The following day a colleague of mine at work asked me if I was feeling ok because my legs looked like I had ventured outdoors out on the coldest of winter days in sub-zero conditions with no clothing to protect me. It was in the heat of the South African summer months to put this into perspective. I asked her to take a paper clip and push this into my calf…. not feeling anything and when looking down at my legs, which had taken on a distinct bluish tinge, I panicked, immediately phoning my doctor, I kept frantically saying that I could not wait for the follow up appointment, my legs were turning blue, I was losing feeling in them and what if the loss of circulation caused me to lose my legs. Moved by my desperate pleading I got an emergency appointment that afternoon.
More blood tests later, what followed was several weeks of iron infusions administered weekly. I suffered from muscle aches as well during this time, causing my doctor to think I could possibly have rheumatoid arthritis so more blood tests were taken in between visits to have the iron infusion done, a procedure where iron is given intravenously through an IV. The process takes about an hour in the doctor's surgery.
Now while you are lying down in the doctors surgery halfway through the treatments, watching iron drip into your vein intravenously, you think about what to have for dinner, weekend plans and then when you have nothing left to think about suddenly you go off in a totally different direction and I found myself mulling over my current situation and what could have suddenly brought this on and why would I suddenly develop RA and why was my iron levels so drastically low I needed infusions….It’s like that light bulb moment when you realise something so significant you can't actually believe you never thought of this…..the monumental moment dawns…..THE BLUE PILLS……
When the pharmacist filled my prescription, the leaflet which should normally accompany medications was never included in any of the repeat prescriptions issued. Thank goodness for the Internet. When I got home, I googled the name of this medication and its list of ingredients. Then Isearched the Acute Porphyria Database listing the medication and low and behold there it was……. on the list of unsafe medications….
I stopped taking the miraculous blue pills and slowly my iron levels returned to normal, my circulation improved, my legs took on a healthier skin tone, the tingling sensations and feeling returned.
For a long time following this I still had pains in my feet, walking on my heels were difficult. Some days were fine, and others were a struggle. I often had a dull ache in the calf of my right leg. This was suspected to be the Rheumatoid Arthritis. Funny enough one specialist confirmed RA, and another said there were no abnormalities in my blood test to confirm any type of Arthritis. Another unsolved mystery.
Some years back I had to have a surgical procedure which required strong pain relief. There were two types of pain relief in that category that I could safely be given, one was morphine, the other was not as effective and would not last as long so I was given morphine following the procedure.
Now I know that morphine is supposed to be safe for those with acute Porphyria’s, but I had a terrible reaction to the morphine. Yes, it took away the pain, I did not enjoy the hallucinations I had while taking it, hearing voices, and seeing people visit me who weren’t there. I could not hold down anything, food or even a sip of water. I vomited constantly even when there was nothing left to bring up. The dry retching and terrible nausea that made me feel as if i was on a merry go round spinning so fast I was dizzy! I refused more morphine, I insisted I would rather take the pain, except after several hours I was crying out for pain relief again. I was given the alternative drug intravenously which had to be regulated, I could only be given a certain number of units within a certain time and I knew that it would not offer the same level of pain relief as the morphine but in reality, I had no choice.
To say that I am cautious of undergoing surgery again is putting it mildly, apart from the fact that I am always aware that I may not wake up again following any surgery there is no way I can take morphine following my reaction to it. For several weeks I could not face food, I struggled with nauseous most of the time and on several occasions ended up vomiting. According to my post-surgery nurse this was because of the cocktail of drugs which were still in my system including traces of morphine despite the number of weeks that had passed.
The medical fraternity are told about my conditions when undergoing any medical procedures ensuring that I am not given unsafe meds. If I undergo a medical procedure, there is always that risk that I may not awaken from the anaesthetic, so I carefully weigh up the risk associated with a surgical procedure before proceeding.
I have learnt the hard way, I take no medication now without first conducting a series of checks starting with the doctor I make sure he or she checks the medication before prescribing it, next the Pharmacist must run a check for me and then finally I run my own check on the database of meds deemed safe. At the end of the day, I am responsible for my health because it is my body. With the deepest respect to the medical fraternity, just because a Doctor says something is ok does not mean it is. Doctors are human too, we tend to put unrealistic expectations on the shoulders of our health care professionals, we expect them to know anything and everything, yet I know myself and how I feel when I am healthy and how I feel when I am out of sorts. If I know something is wrong with me, it is.
I wear a medic alert bracelet so that if I am in an accident and unable to communicate, paramedics will know to not administer certain drugs. There are so many drugs that I am unable to take, the list is too numerous to mention. Conventional sunscreens formulated to protect against ultraviolet rays (particularly UVB) are ineffective. For all skin porphyria’s (there are several types of porphyria), reflectant sunscreens that are based on titanium dioxide or zinc oxide are more effective.
This is because they cover both UVA, UVB, and visible light to a degree but that would mean walking about smeared with thick white cream on my face and other exposed flesh.
I take care to keep my skin protected as much as possible, unfortunately the damage my skin suffered in earlier years has been profound but through using a variety of Oils my scars are not as prominent and several have faded over the years. I still have outbreaks akin to eczema where my skin itches terribly, it's impossible to not scratch but I have learnt more or less what triggers to avoid and what works and what doesn’t though not always successfully. One of the biggest triggers is stress.
A diet high in carbohydrates is essential in the management of Variegate Porphyria but there are occasions I am unable to tolerate pasta or bread. I always have some glucose on hand should I unexpectedly feel lightheaded, failing that a bar of chocolate works wonders. The fact that our bodies and our organs may not get enough oxygen means that fatigue and the sudden onset of feeling weak and lightheaded can strike at any time.
Two of my children are carriers of the R59W gene .
I have suspected peripheral neuropathy, damage to my nerve hence the constant ongoing ache in my calf which radiates from my ankle up the side just below my knee. It is there all the time, some days worse than others but it is always there. I now use several essential oil blends to help me manage this which has been a lifesaver in controlling the discomfort.
I have constant flare ups with food, often within minutes of eating something I will get stomach cramps, my stomach will blow up like a balloon, sometimes lasting a few hours or it could be a few days. Carbonated water or fizzy cooldrinks can sometimes cause havoc.
I battle urinary infections constantly, again I have turned to essential oils for relief and to help me manage the discomfort.
I watch my blood pressure, I have been on medication for anxiety and ADHD for many, many years helping to keep me focused, concentrate and deal with anxiety issues.
2020, the year Covid-19 changed the world. This had a profound effect on me and my family. I was able to step back, re-examine my beliefs and look at life in a more holistic way. Having spent so much of my life trying to fix a variety of issues one at a time instead of looking at the whole package. I had worked for several years in a stressful job which I did not enjoy having triggered many health issues which had started to take its toll. It was not necessarily any one thing but several contributing factors.
I have always used an emollient to wash with, yet on closer examination I discovered that this product and many others which are used in the treatment of or to alleviate eczema conditions contained ingredients that were by products of a Mineral which if not processed correctly could aggravate the very conditions they were supposed to address. This product I used has what is termed as an occlusive emollient because it forms a film on the skin creating a water-resistant barrier, it is supposed to prevent the loss of the skins natural moisture but again it contains this by product. I am not here to debate the characteristics of this ingredient which has been around for many years and most of the population use products containing this, however that led me to the conclusion that there were many other synthetic chemicals which were likely a contributing factor in my skins overall condition and my struggle with it.
This prompted my daughter and I to look at alternatives that would address all our skin concerns and yet could also be used by others too. Our skin changes are caused by environmental and seasonal changes and of course synthetic or perhaps scented ingredients.
I enrolled in the Organic Skincare Business Diploma to gain more insight into the use of Organic products and essential oils, then moved on to complete the Essential Oils qualification,
Aromatherapy Diploma and currently I am studying the Advanced Aromatherapy Diploma.
My skin has improved by leaps and bounds, whilst I will always have to take care to protect my skin from environmental conditions, knocks and bruising the scars are not anywhere as pronounced as they were. There is no cure for Variegate Porphyria, I will always need to be careful in the sun, check medication prescribed to me, given all that I have much to be grateful for.