I have a rare blood disorder called Variegate Porphyria (VP).
Not a lot of people know I have a it, mainly because I lead a fairly normal life, so much so that even I don’t think about it daily. There are times that it is thrust to the front of my mind though. Now, because I don’t think about it daily doesnt mean its not a serious disorder, because it is. I don’t want to go into a lot of medical detail about Porphyria, if you want to know that, you can check out the “What is Porphyria?” article on British Porphyria Association website. In brief, the porphyrias are a group of seven relatively rare genetic disorders, in each porphyria a specific enzyme, which is needed to complete each step on the pathway to produce haem, is faulty.
I leave for my hen weekend in Amsterdam in the morning (I’m so beyond excited) with 14 of my close friends, some of which, don’t know I have porphyria. I am highly aware on girly weekends that I have porphyria and that I need to make the right choices when it comes to what I drink and what I eat.
I was diagnosed with porphyria when I was 19, after years of wondering what was wrong with me and never really being able to pinpoint one specific problem with my health. I was taken to the hospital by my basketball coach in the US who was tired of having to take time-out during games or practice to bandage up my bleeding hand or arm after light impact. (She thought it was strange I hadn’t been to the doctor already…she didn’t know the Scottish attitute towards illness, or at least my families attitute towards going to the doctor!) I had worried for years why after being out in the sun I had blisters on my face and hands. There are a lot of other symptoms of porphyria, as it presents itself diffferently in people, the skin trauma in the beginning was my main symptom. At this point in time I hadn’t had a seizure yet, these came later. When I was diagnosed, I did nothing, for years.
I was an athlete in college so didn’t drink alcohol regularly but in my mid-20’s Porphyria became a real problem for me. I came home from the USA at 23 and started going out at weekends, doing what other 20 something year olds do, and every weekend I was ill. I remember the first seizure I had, I don’t remeber the night out or who I was with but I know I was drinking everything, wine, shots, vodka, beer, you name it. I will also never forget waking up the next day, every muscle in my body was shaking, I was lying in my bed, fetal position, shaking, it was like I was seizing. I couldn’t move, my arms and legs were so heavy and painful. I had no control of my body. I was holed up in my room in the dark, alone and scared. My body was shutting down. I didn’t know it at the time but my liver wasn’t working, I don’t have the enzyme that breaks down alcohol. I was having an acute attack. I stayed at home for a few more days and didnt seek medical help. I researched porphyria in those days and learned about the attacks and what to do to reduce the risk of them. I needed to be more selective with what I drank. Stay away from heavy red wine, brandy and liquor.
Now, I’m not writing this for effect, I’m writing this because living with porphyria as a young Scottish person is hard!! I decided that instead of drinking anything, I would stick to beer. That works in Scotland. I’ve had a few more attacks since that time, mainly when I’ve made bad choices with alcohol. My last serious attack was over a year ago, in France, after a night of drinking too much red wine.
When I was pregnant, I wore Medi-Alert chain all the time, as porphyria attacks are common during pregnancy too. ( I should wear my Medi-Alert all the time, but don’t ask me why I don’t…..its a girly reason and silly!!) I had very close care during labour and ended up having a c-section to reduce the internal trauma. I take a lot longer than the average person to heal. I have scars all over my hands and arms from my skin breaking and not healing when I played basketball.
Porphyria is an inherited condition so the chances of Little Miss having it are 50/50, when she is a little older we will take her and get her tested. I’m a twin and my sister doesn’t have it.
I’m a lot more informed and aware of my condition now, although there are still times that I make poor choices when it comes to alcohol. Drinking is part of my culture and I won’t stop, but I do value my life and my family now so I stay a lot more in control. I’m not sure I will be able to this weekend though….thankfully the Dutch love their beer as much as I do.
If you have any questions about Poryphria or living with it, I’d be happy to answer them as best as I can.