Coexisting with Porphyria

What is Porphyria, exactly?  A similar question I asked myself time and time again before knowing what plagued me was a more simplified inquiry: “What the hell is going on?”

Porphyria is a rare, inherited blood disorder in which the porphyrin levels in the blood are abnormal on some level.  There are several types of Porphyrias and they tend to mutate.  Two outstanding categories of porphyria are Acute Intermittent Porphyria (AIP), which is what I have, and Porphyria Cutanea Tarda (PCT).  It is the non-acute Porphyria that is more punishing to one’s skin.  For people suffering from that Porphyria, exposure to sunlight can be damaging enough to warp the appearance of their skin and cause lesions and necrosis.  Severe pain (usually abdominal),  acute neuropathy, vomiting, nausea, muscle weakness, spasms, seizures, irregular/high heart rate, and mental disturbances are among the most documented symptoms of the acute porphyrias.

To read more about each of the porphyrias and what causes them, I suggest going to this site:
http://www.porphyriafoundation.com/about-porphyria

Interesting Relations to Porphyria

Porphyria is often attributed to the myth of vampirism due to certain similarities associated with the condition (Photosensitivity, rumored cravings for red meat due to iron deficiency, potential stomach weakness to certain foods like garlic, day-long sleeping, etc).  While that is an interesting and popular hypothesis of vampirism’s origins, Porphyria’s wide variety of reported symptoms can vary within its sufferers, so the correlation to some can seem like a stretch.  To some sufferers, the association with vampirism is an offensive stigma toward the ailment.  I personally can understand how porphyria could be an explanation for the legend, but I also find the misrepresentation of porphyria sufferers as vampiric or monstrous people outlandish.

Since Porphyria is an old condition that can be passed down from generation to generation, there have been several famous people associated with it.  The Madness of King George was a popular movie about “the king who lost America”.  King George is highly suspected to have suffered from Porphyria, which may have caused his madness in the end.  Other potential sufferers are Mary, Queen of Scots and famous painter Vincent Van Gogh.  The vampire legend presents itself again in the rumors of Vlad the Impaler and Elizabeth Bathory suffering of Porphyria.  I have never seen any actual evidence supporting these rumors so I tend to believe it is more likely that both historical individuals were simply bad, bad people and not even Porphyria’s mental disturbances, associated sensitivity to sunlight, or iron defiency could explain the cause of their atrocities.

In more modern times, some are surprised to find out that the most tattooed woman in the world is a sufferer of porphyria and actually began to cover herself in tattoos to help prevent skin lesions caused by sunlight!

A Personal Experience With Porphyria

My struggle with the disease is something that has shaped a part of me.  I hope that sharing my experience will enlighten people about acute porphyria.  Since porphyria has such a wide set of symptoms, it may affect one sufferer in a slightly different way than another.  This is just my experience with the it.

For the better part of my 25 years I have lived through an awkward relationship with a rare blood disorder known as Porphyria.  As a pre-teen I often fell sick to mysterious ailments that were shrugged off as a number of common illness symptoms.  In fact, for several years I was left to assume that the frequent pains I felt were entirely related to my period and that the level of discomfort was normal.  This false idea of normalcy bred a severe depression that followed me from my early teens into adulthood, a typical symptom of the disease itself.

I have suffered from all of the aforementioned symptoms as well as a significant sensitivity to sunlight.  In my case, just spending a few hours in the sun can onset something called a Porphyria attack.  Porphyria attacks are the biggest thing I try to avoid since about every one of those symptoms can surface all at once and for hours at a time.

Starting from the age of 11, I began to suffer crippling cramps especially around my menstrual cycle.  This was just the first symptom in a long line of them.  As time progressed, I began to experience long periods of time in which an all-over pain wracked my entire body combined with extreme nausea.  During these episodes I also experienced a chaotic state of mind in which I could never think properly, often became confused, and during the worst of these episodes endured frightening hallucinations.  Before and after these events I would get edgy toward my parents, which did not help them acquire a proper diagnosis for me.  We just assumed that I was having awful growing pains and experiencing the hormonal side of being a teenager.

It did not stop getting worse.  Around the age of sixteen, these previously described events began lasting longer than several hours.  Entire days were encompassed with nonstop pains in the abdomen, short-nerved shocks of pain through out the rest of the body, and nausea so awful I had become severely underweight (85 pounds at 5’3″).  Everything about my body’s system would be thrown off for days at a time.  Again, this often happened around the times of my menstrual cycle so we continued to assume that I was one of the few unlucky women that just have a hellish bout of PMS…  at least that is what the several male doctors I visited convinced me.

Not to put down male doctors in general as I sincerely believe their gender does not suggest an inability to help women, but I was unfortunate enough to get stuck with male doctors that looked at me as if I was another feminine complaint on the examination table.  At this point in my life, it felt like none of them were sensitive enough toward my descriptions.  Instead of being taken seriously enough for a more thorough exam, I was prescribed anti-depressants such as zoloft and zyprexa.  “Many girls have trouble adjusting to their womanhood.  You’re just depressed,” they said.

You’re damn right I was depressed.  I was flunking out of high school left and right, unable to maintain a steady attendance rate at a public school system where 10 absences of any  kind meant that you had to repeat the entire grade.  It was never that I hated school so much that I could not bring myself to go, it was that too many weeks out of one month were scattered with pain and a very embarrassing vomiting issue I tried to hide in the bathroom during passing period.  Oh, how the other girls at school liked to mock me for what they perceived as an eating disorder.  I was a kid, so this sort of thing got to me.  I became very insecure.

This insecurity, combined with the inability to keep up with other people of my age, left me with very few friends in real life.  As a child I had plenty of friends, spent most of my time outdoors, and enjoyed face to face socialization.  As a teenager, I took to spending most of my free time on the internet and making my friends there.  Good and bad things came of this of course, but that’s for another story.  Using my computer was easier than physically exerting myself and becoming sore, weak, tired, and pained.  Also, there are few promises to be had in open online socialization; no times or dates to meet, so my friends were not frequently let down by my sudden absence.

I had a brief reprieve of these symptoms around 19 years of age, but by then I had ruined my high school career due to this unexplained illness that kept me bed ridden or unable to perform in mandatory school activities.  During this reprieve I built up the confidence to start modeling through a local school/agency.  Many of my friends told me I was a pretty girl and I liked to believe them, although there was always something within myself that kept me feel unattractive.  This “thing” that had attacked me and kept me sick for more days than I felt even 60% healthy had already convinced me that I was anything but pretty.  But, I figured it was time to kick those insecurities and therefore experienced a bit of success in print ad and alternative modeling.  About two years in, the mysterious ailment resurfaced.  This caused yet another severe depression for me since I could not keep my modeling hobby.  The physical symptoms combined with its mental luggage made it impossible, again, to function in the outside world.

Not only did the symptoms come back, they came back ten times worse.  See, by 21 I had discovered the joy of casual drinking.  I never drank a lot and I certainly never took to drugs or smoking, but since I was still learning how to handle what I did drink, my body did not take well to it.  Basically, excessive drinking and porphyria do not mix.  At the time I assumed I was stupid and gave myself a few awful hangovers, so I swore off touching any form of alcohol for a while.

This did not make the problem go away.  Now I was suffering those aforementioned episodes no where near the dates of my monthly cycle, and they were worse than I remembered.  I would sleep for 16 hours at a time just to get through them.  I could not eat well enough to coat my stomach for pain killers, so taking one just made the nausea a dozen times worse.  Each symptom I mentioned before was amplified and with them came new symptoms.  Frequently my limbs would become numb, then as they came back into feeling I had the sensation of fire in them.  At times my muscles would spasm uncontrollably, resulting in a ticking sensation and even the appearance of a seizure.  I really got scared when I would wake up literally paralyzed and unable to call for help.  During these bouts of paralysis, the hallucinations became worse.  Now I was starting to feel like a crazy person.  My anxiety levels went through the roof and my insomnia was so bad due to my uneven sleeping patterns and mental state.

Over the next few years I began to make emergency room trips that became more and more frequent.  No one knew what was going on.  My blood work looked normal to them.  The body scans came out fine.  I remember overhearing a conversation between two doctors while laying in a hospital bed.  I had appeared mostly unresponsive since my arrival, which was due to the overwhelming amount of pain (my only defense at the time was to literally try and shut down).  “Doesn’t look like anything is wrong with her.  Is she asking for narcotics?”  One asked the other.  “She said her pain level was 10, yes.”  He replied.  “Give her something then discharge her.  Can’t keep taking these kind of people back there.”  That was the final verdict.

I couldn’t blame them for being uncertain, really.  Not even I knew what was going on for sure, though there had been recent talks about the possibility of Porphyria, a disease that runs in our genetics–my aunt being the famous sufferer in our family.  I figured they’d be able to detect it eventually.  In fact, I had recalled that when I was 12 and first having these issues, my mother did worry I was suffering the same thing she had seen my aunt suffer through.  She had me tested thoroughly and the results had come back negative, so naturally she assumed it was a false alarm.  At that time we were not aware of how difficult it is to detect the presence of Porphyria, even with precise testing.

The ER visits were becoming ridiculous so we started going to all sorts of specialists and I was subjected to a number of unnecessary procedures in an attempt to find out what was going on.  For a while there was a possibility of having a bad stomach disorder, then a bad bowel disorder, then even a brain disorder.  We were thrown through a loop when we discovered a heart disorder after being taken to the ER once again, this time having been found unconscious by my mother.  It was WPW, which is generally not a fatal heart ailment and is more likely to cause severe heart palpitations and complications with physical activity due to it.  In my case I was fainting and suffering resting heart rates that were through the roof, even waking up feeling as if I had run a marathon only to fall unconscious again.  The severity of this heart condition was urgent enough to immediately hospitalize me and perform surgery.

Although I was fortunate to have this condition caught and managed before it caused anymore serious damage or became fatal, it did not help us get any closer to a diagnosis for the unrelated symptoms.  In fact, I am convinced this heart condition was only worsened by my struggles with the rest of my body and a severe unhappiness in a past relationship of the time.  The scare did, however, kickstart another line of specialist visits.

Soon after I found a hematologist who was certain what I was suffering from was indeed Porphyria and had even seen other Porphyria patients before.  To this day I still struggle with Porphyria and have to be very, very aware of its existence within me. If it were not for my boyfriend’s patience and caring, I can honestly say I would still be sleeping 15 days out of a month and in horrible shape, using anti-anxiety meds just to get by.  Just a few months ago the outlook for my life was rather grim, and now everything is all smiles and funny cat pictures.

Managing My Porphyria

Since AIP can be sporadic regardless of treatment, and there is no cure, managing it can be tough.  I try not to get too upset when I get an attack even though I have been doing everything “right” to avoid it.  At this point in my life I am unable to receive the best known form of treatment for AIP (Panhematin administration) , so I must take matters completely into my own hands.  With careful attention, I have noticed success and maintaining the level in which porphyria encumbers me.

I maintain an organic diet as much as possible.  I do not eat hormone enriched foods wherever I can avoid it and I especially do not touch high fructose corn syrup anymore.  I am not sure if there is any actual research proving that a completely organic diet can help treat porphyria, but to me it is just plain common sense.  If I don’t feed my body things that it has to struggle to metabolize, that is less work for it to keep up with.  I notice an incredible, positive difference in my life since I quit eating non-organic foods.  I have more energy and I feel stronger in general.  My porphyria attacks have been reduced from around six a month to maybe once a month, and they also do not last as long.

I exercise whenever possible, too.  Keeping my muscles strong has resulted in having less muscle spasms, as well as more control over the numbness and weakness I feel at times.  Exercise is good for everyone, though, so it is yet another common sense thing to me!

Getting an adequate amount of sleep and an abundance of carbohydrates in my diet also helps.  Enough sleep ensures I will not start my day feeling weak and therefore be more likely to succumb to negative symptoms, and lots of carbohydrates apparently suppresses porphyria.  I must say that a reason to eat an extra amount of carbs may be one of the only GOOD things I experience with this condition!

As far as managing the skin issues accompanied with the sensitivity to sunlight goes, I enjoy makeup and cosmetics.  Since I am prone to easily receiving sun damage from exposure and have a very light skin tone, putting something with SPF on my face that actually looks good is a fine way of protecting my skin.  I absolutely do not attempt to achieve a tan, especially through fake means.

Keeping a stronger, more positive outlook is essential for me in managing porphyria.  It is easier now that I know what has caused me all the grief.  Just being able to research your illness and learn about it is a huge step in making it better.  Without having that before, the confusion was almost unbearable.  I kept doing things that were counterproductive to preventing attacks because I did not know better.  Now I know how to help myself and I can appreciate the idea that at the end of the day, life is good.

Advertisements
This entry was posted in Porphyria and tagged , , , , , , , . Bookmark the permalink.

10 Responses to Coexisting with Porphyria

  1. Greg says:

    Brilliant write up on your history with Porphyria! Do you mind if I refer to this page on my blog (myporphyria.com)?

  2. Theresa says:

    I am practically speechless in what I just read. My heart goes out to you! You are doing a wonderful job managing your illness. Not an easy thing by any means! God Bless You!

  3. I’m a 35yr old fitness trainer & nutritionist. I was diagnosed with AIP in June, after 35yrs of unexplained symptoms. Your story is just like mine, except I have access to hematin. Unfortunately it doesn’t work for everyone, and it didn’t work for me 😦 lol I can truly say I’m shocked and appalled at the lack of professional support for porphyria. Anyway, it’s nice to know we’re not completely alone.

    Cheers!

    • Chelsea says:

      Hello and thank you for your comment. It is true, I have had a lot of trouble with professional help as well. Good luck in your future with managing and treating Porphyria!

  4. Maria says:

    I’m very touched by your story as I’ve been dealing with almost the same exact thing for years! I’m only 19 now but it’s been rough for about 11 or so years. Even before then I wasn’t a healthy kid. I was recently diagnosed with AIP too. What I’m having a hard time doing though, is managing my diet.. My dr put me on a high carb low protein diet. How do you do it and do you have any tips if you don’t mind me asking you?? I’ve been able to manage it a little better since I no longer take the overabundance of antibiotics,allergy/cold meds, Motrin.. Etc etc and stopped doing other things that cause attacks for me. I’ve gone from having many LONG attacks a month, to only one or two bad ones a month. It’s still a daily struggle with energy and extreme pain but its better than it was before.. I’ve been needing sugar IV treatments about every other month for really bad attacks. If you have any helpful tips please let me know! – mariasbirds@gmail.com

    • Chelsea says:

      It is very hard to give advice on AIP because it seems to affect people in different ways. For example, some women cannot take hormone pills if they have AIP because it triggers attacks and other women benefit from a low dosage of hormone to keep their AIP in check. There is a very hard balancing act to perform when you suffer from AIP. I am not a doctor so I cannot give you professional advice, but I can tell you what has helped me personally.

      I actually am not on a low protein diet and I have found that lots of carbs + iron enriched foods helps me. Again, this is just for my experience so I recommend you keep talking with your doctor and following his directions. Other than that I stay away from medicines unless absolutely necessary (such as being in extreme pain or very nauseated). I avoid foods with corn syrup, which is hard to do if you live in the United States. Corn Syrup in my experience throws off that delicate balance in my bloodstream. A doctor actually commented on one of my other posts talking about how he benefits from the growing of corn for corn syrup but definitely agrees that people with Porphyria should stay away from it. It’s not that I have cut out corn syrup infused foods completely, but I DO notice my attacks flare up if I’ve had a lot of it in my diet recently. Very recently I had an absolutely terrible attack that locked up my muscles to the point of being paralyzed and all that week I had been rushing with school, so I ate tons of fast food and cheap snacks (basically a bed of corn syrup preservative!) I also avoid dark fruits/juices/dark wine, anything that is a deep red or purple color. I read about how grapes and other dark fruits also have a sugar in them that may cause problems in the bloodstream for us. I’ve personally experienced attacks triggered by drinking dark wine. In general, avoid alcohol; I have seen alcoholism in my family members who also suffer from AIP because in the moment the alcohol relieves their lingering pain, but ultimately it causes horrible attacks. So don’t go down that route, it will just cause more pain in your life. I also have experienced relief when making myself work out. If I get moderate exercise regularly, I feel a LOT better. This is true for everyone, but for me my symptoms let up. I emphasize moderate exercise because pushing it past my limit in the gym has also had a very adverse reaction for me.

      It is wonderful you are receiving treatment for your AIP. It sounds like you have had a rough time but it is a good sign that you were able to get that diagnosis at your age. Hang in there, and don’t let it get the best of you. At your age I was at my worst with pain and depression, but it did get better the more I learned little tricks to manage it. Pay CLOSE attention to how your body and your mood reacts to different things, be it diet, medicine, or activity, and over time you can learn how to scale triggers and manage symptoms. Make sure to keep open communication with your doctor in regards to how your Porphyria reacts to these things.

  5. Pam Marquardt says:

    Thank you for your great article.! My son has been a sufferer for years so I know how hard it is to hold down a professional job when so much of your time needs to be spent just ‘managing’ your situation. Your early experiences with the medical profession are almost identical to ours!

  6. joy says:

    Thank you for writing about your experiences. I got goose bumps as I read your words…..I am almost 50 years older than you and yet felt like you were speaking for me. I identified so much with you! Thank you for your bravery and insight.

  7. Tracy says:

    I read this blog and it was like reading about my own life. I also have AIP and could tell horror stories about my life. I am so sorry you had to go through all of this, too. Sometimes porphyria makes one feel so alone. Even now when I go to the ER, and I have a care plan, I still get Dr that think I’m drug seeking. And after awhile your family gets frustrated. I do have a pain specialist but sometimes the pain is to high for Norco. Keep drinking that H2O!! I wish you good health, happiness and a good nights sleep!!! And know, you are not alone.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s