By Karen Hunter - van Zyl
29 Jun 2021
My name is Karen van Zijl age 47, born in South Africa and have Variegate Porphyria, here is my story.
Growing up my mother told us that she has VP. She wears a medic alert and I remember her always having sores on her hands. She told us that it is genetic and that my Grandfather also had it.
She also told us the story of my Grandfather using a nasal spray that sent him into an attack and nearly caused his death. He was unconscious for some time and had to learn to walk again.
None of us children were tested, because my mother believes that as long as you stay away from the drugs that are unsafe and you don't spend to much time in the sun, you can have a normal life. For that reason we were always told to alert the Doctors to treat us as Porphyrics and that way we would be safe.
Knowing this, I carried on with my life as if this disease was of no consequence, as long as we told the Doctors.
All my life I have felt different, by different I mean that I would get very mentally tired and struggle to concentrate and retain information at these times, which was most days.
At school I was always in trouble for being a day dreamer and struggled to keep up with the class. I was slower than the other children, which as I am sure you can understand gave me a complex and caused me to withdraw.
I realized that if I smiled people would think I am fine and let me be, this became a habit and till today it is a standing joke with my kids, that my face doesn't understand what I am feeling or thinking.
Thank goodness our teacher asked a girl in my class to play with me, and till this day we are closest of friends. I am so grateful to have met a friend that never judged me and loved me as I was. We spent most of our days in the swimming pool, water and sunshine were two of my favourite things.
These were good times and got me through school.
As a teen I was naughty and life became about having fun, it was nice to feel kind of normal.
I met my first husband at the age of 16, got married at 19 and had our daughter when I was 25.
All these years I would try and ignore this feeling that was weighing me down physically and mentally. Everyone always seemed to have so much energy, so I became accustomed to pretending that I am healthy and happy and never spoke about it.
I must admit that there were times that I would go into a fit of rage over the smallest thing, this is a terrible feeling and it is a terrible version of myself.
I do also recall going to see a GP on one of my really weak days that I took off from work, the diagnosis was depression and a viral infection.
Another time I saw a homeopathy, the diagnosis was a yeast allergy.
In my early twenties, before my eldest was born, I found something that made me feel on top of the world. It was a slimming mixture with ephedrine. It was at this time that I realized that I am not slow or stupid, that I can accomplish anything I want. In order to stay this way, the doses got more and more, till eventually I was unhealthily skinny and felt dreadful. I stopped using, picked up weight and became my old self again.
This experience gave me a glimpse of my potential which left me with hope.
We got divorced, then I remarried and had my second daughter.
At the age of 30 we opened a jewellery store, my husband was a goldsmith and I managed the store sales and design. I remember feeling completely overwhelmed at times, but just got on with it and had the third child, our Son.
By this time I was on antidepressants permanently which did help, but not completely.
It is hard for me to pinpoint when things went completely pear shaped though.
One of the occasions my eldest daughter contacted mumps, which in turn I picked up. This made me very ill and ended up in hospital. I remember throwing up uncontrollably and my back was in agony with migraines. The diagnosis was pancreatitis and mumps.
After this episode I would suffer debilitating migraines and my stomach became very sensitive and would often bloat.
Another time I remember losing my patience and throwing a tantrum at all the staff in the shop. That day I was feeling completely out of sorts, I knew there was something seriously wrong. Every action was hard work, physically and mentally draining.
Off I went to a doctor who booked me into hospital to run all kinds of tests including a brain scan. Diagnosis, stress and depression.
Then there was the time my husband picked up hepatitis B, which he passed on to my eldest daughter and myself.
Now this does make you very ill, we were both down for a few weeks, my daughter being young, bounced back quickly.
We both had blood in my urine and went completely yellow from head to toe. My husband recovered pretty quickly, but my symptoms just lingered and lingered. I started getting itchy blisters in my neck in the throat area and thought it must just be something to do with the Hepatitis.
At this point we had closed the store and I was working for another jewellery company.
As time went by life became more of an effort than ever before, I clung on to little actions or situations that made me feel good to distract me. Working retail hours, I hardly saw my family and when I did, it was hard work to keep up the spirits because I was so drained from trying to keep myself together for the job. My family started seeing the horrible short tempered version of me more frequently.
The marriage fell to pieces, I did my best as a single Mom of three, earning a very average salary.
A long story short, we went to live with my Mother which was a huge relief and I took on a job that would give me weekends off to be with my kids. At this point, most mornings getting ready for work, felt like I had run a marathon. Even holding the hairdryer up hurt my arms. I would also fall asleep behind the wheel of the car, it was close to impossible to keep my eyes open, this was very scary.
Two years later, now living on my own with my children and a full-time nanny to take the load off, because job turned out to be very stressful, my migraines became more frequent and my physical and mental fatigue became intolerable.
I was referred to a reflexologist which did relieve my symptoms for short periods and ended up seeing her once a week. She noticed that instead of getting better, I was getting worse and suggested that there is something going on that needs to be diagnosed by a medical professional.
I went to see another GP who after a variety of blood tests, told me that she has tested for everything and can't help.
One day on my way home from work, I looked in my rearview mirror and noticed that my mouth was pulling to one side. Horrified by this, I went off to a public hospital, where the emergency doctor requested a brain scan.
The doctor came back to me and said she found the reason for my migraines, it is a right frontal lobe growth called a meningioma which is not cancerous and it is very small.
Well finally, I had an answer for some of it! Then the head of neurosurgery came to see me, surrounded by his team of students. He looked at me and said, that the tiny thing in my head was an accidental finding and could not possibly give any symptoms. He went on to say that if I sit up straight I would already feel a lot better and that this is an emergency unit, there are many actually sick people that he needs to attend to. He then wrote a scrip for anti-seizure meds and sent me on my way.
Things just went from bad to worse. I would be sitting at my desk, my head would just drop an I would be out of it for some time. My speech became slurred and felt the need to sleep constantly and my face would still pull skew.
So eventually I had to give in and accept that I must either be completely mad or my job is too stressful, I decided on the latter and took another job offer.
This job was paying more, so to make up for being sick and grumpy we moved to a bigger house with a pool. This should make my children happy, I thought.
Every spare moment we were in the pool or I was cleaning it, my love of water became my crutch.
I got a dog for each child, we had a full time nanny and I had a much less stressful job. Life would be great!
Around this time, a friend introduced me to a man who would be in my life for a long time and who stayed through mostly downs.
Well, despite my hopes of a bright future, my health went from bad to even worse. I could barely make decisions anymore, days were a blur and when I got home I would go straight to sleep, till the morning when I had to drag myself out of bed, get the kids to school and get to work. I became even more short tempered than before, any tiny hurdle felt like a mountain in front of me.
One day I was walking in the Waterfront, my left foot just wouldn't work. It was as if my ankle forgot how to lift my foot. Horrified, I showed up at the hospital. Thinking, this time there has so be a reason.
They prescribed more seizure meds and made a follow-up appointment with neurology. At the appointment, the neurology doctor said all she can do is keep me overnight to do an EEG, to see my awake and sleep brain activity. She took me off all medication for the duration of the test. Diagnosis, everything is normal stop stressing.
So on I struggled and things just seemed to constantly go wrong.
On this day, at my wits end, I asked to see the school counselor at the primary school. I was in a state, crying and asking that she speak to the children's father to help with lifting the kids and to assist a bit more financially. (Because I had over committed financially) She said she would see what she could do.
I was called in to see the headmistress and the social worker, they told me that my eldest daughter in high school had been to see her school counselor because we had been arguing a lot. I assured them that things were fine, that I had just not been well and was reaching out for some help.
One morning after dropping the kids at school, I received a call from the social worker to meet all of them before going to work. At the table was, the primary school headmistress, the counselors of both schools and the social worker. I was told that they are worried for the safety of the kids and as of that moment I no longer had custody until further notice. The two youngest were to stay with their father and if he wasn't prepared to pick them up after school the would be placed in foster care. My eldest daughter was to go from school to a foster parent.
I was allowed to go home to tell the Nanny that she no longer had a job, before going in to work.
Heart broken and in shock, I told our Nanny who couldn't either understand why they would go to such lengths.
I then drove to work and as I got into town, my car ran out of petrol and started walking the rest of the way. An angel sent an old friend down that street that morning who gave me a lift to work.
When I arrived, my boss called me in and said, unfortunately they need to let me go because I am not delivering as promised. I do understand his point.
So to summarize, in one morning I lost everything, and had no idea what I could do about it or why it was happening. That afternoon I returned home to an empty house. Only a few of the kids things were left behind.
In the days that followed, I sold 90% of the contents of the house and at the end of the month moved into a granny flat closer to my partner.
The only light I had left in my life was the man I mentioned earlier, he became my partner and supported me in any way he could.
I tried to work out what was wrong with me and realized that the hospital I was being seen at, was of no use at all.
So on a day that I had another migrain, I went to another Government hospital, in the area that I had moved to. They did a brain scan and came to the same conclusion, that the tumor is small and very slow growing. They prescribed more seizure meds and off I went.
A few days later, my partner decided to take me to signal hill to try and lift my spirits. This is the day that everything changed.
On Signal Hill, my back started aching badly and asked that we leave.
The pain wasn't in a specific place, it felt like all my muscles were in a spasm, but at the same time it felt internal. Nothing I did relived the pain, a good friend even gave me a deep massage.
That evening, my partner took me back to the Granny flat. Tossing and turning all night and when morning finally came I noticed blood in my urine. I went through to the hospital, now thinking it must be my kidneys. I sat waiting all day and in the evening a doctor finally saw me.
I told him what I had experienced and out of the blue he asked if I often get sores on my hands. I wasn't sure, hadn't really taken note of that, but yes I suppose I do knock my skin off sometimes. He asked if we have Porphyria in the family, that was the moment.
He called the professor who opened the lab to test and the test came back positive for an acute Porphyric attack. I was kept in hospital for four days, given heamitin and glucose IV.
My first course of Haematin seemed to heal me completely, I felt invincible for about 2 weeks.
It was explained that the seizure medication probably caused the attack and was told to stay out of the sun, alcohol, smoking and avoid vitamins and most medication, because it puts unnecessary strain on the liver and a follow up appointment in 3 months time.
It would have been great if that was the case, I would work again and get my kids back.
So off I went and took another job in the Jewellery trade. I was honest and told them that I have Porphyria and sometimes I might be ill. The owner seemed to be understanding and would pay me for the days that I worked.
Unfortunately I was sick at least half the month because I would go into an attack every time I menstruated.
On a day that I was feeling bad and hopeless, I googled "can't work Variegate Porphyria" there I found Aletta's story which was my first evidence of a current person in my country suffering the same. A friend at work contacted Aletta and arranged a meeting. This was a saving grace to me.
This lasted for a year that I was in and out of hospital, until one day my body decided, enough is enough and as I turned 40, I went into menopause.
Since then I have not been admitted for treatment, because when I have been there for help, they run the test and tell me the test is negative. What it boils down to is that if you are not in a full blown attack they are not prepared to treat you. The liver unit denies that we need help. In fact, the last time I was there after being tested at a private facility, my levels were raised, but the liver professor at the usual hospital told me their test was negative.
I begged him to please help us, that there are many of us that suffer on a daily basis and we need support. His response was that because it is a rare disease there is not enough research to help us unless we are in full blown attack. A person can see when people are laughing at you behind your back and this is what you get when you ask for help. They do not believe us. They have done so much reserch on attacks which is great, however nothing is being done to research the smoldering symptoms many of us experience daily.
I am now completely allergic to the sun. I can feel my skin burn as soon as I come in contact with it. I get blisters and my skin comes of if I lightly knock it against anything.
I struggle daily with my energy levels and often feel disorientated and confused.
Physically I am strong some days and can tackle manual work, other days it feels like I have hardly any muscle and most movement is tiring.
When my health goes downhill, I easily get overwhelmed and behave irrationally.
Pain is a way of life, I struggle for hours to finally fall asleep and when I wake up I feel like I never slept.
My stomach is very sensitive to may foods, sometimes more than others.
I have resigned from the job I have been with for almost 3 years. Since having Covid in December, I have not bounced back. The daily struggle has now escalated to be unbearable. I am now working from home on my own projects how when I can.
My three children seem to understand now and we are closer than ever. They are very protective and know when I am getting sick even before I do.
The two girls still need to be tested, my son was tested negative, but will test again to play safe.
It is in rough times that you learn who your true friends are. I have realized that in life there will only be one or two people who stand by you no matter what.The rest will judge and misunderstand you, even spread cruel rumors.
I have withdrawn from the world and most people, it's just too tiring to pretend.
I am so grateful to have found Aletta on the internet and that the whatsapp group is growing. It is encouraging to hear that others with VP experience the same thing as me, so maybe I am not totally crazy after all. It is also great reminder that everything is temporary, that we will come through it again and again.
The SA Porphyria foundation is a huge step in the right direction. People need to be aware of this not so rare disease.
There are many out there still living a similar story to ours, being told they need mental help because no diagnosis is found, which is not necessary.
Doctors should test for Porphyria more often and people need to hear about it to recognise it in themselves.
Families and caring friends need to educate themselves on what we experience collectively as a VP group and the liver professors need to be educated and do the appropriate research based on our collective daily symptoms.
Let's spread the word, to save lives!