Acute Intermittent Porphyria (AIP)
My name is Shayne Henkelman from Calgary, Alberta, Canada and this is the story of how I came to be diagnosed with Acute Intermittent Porphyria.
Looking back now I displayed signs of the disease early on in my life. I had fairly chronic issues with my stomach and bowels up until the time I was about 7 years old. The doctors never really determined the cause from what I can recall and likened my issues to laziness and immaturity.
From the time I was 7 until I was 22 I lived a pretty normal symptom free life. In March of 1995 I was working on a service rig in the oil patch of Northern Alberta when I fell victim to an industrial accident which ended up with me having third degree full thickness burns to my right leg from the knee down. It was during the recovery process I started having unexplained attacks of severe abdominal pain and debilitating vomiting that would leave me crippled on the ground and always required trips to the Emergency Room to correct.
At first the popular consensus among the medical professionals was that my body was basically going through withdrawal from the very large amounts of opioid analgesics that I had been receiving for upwards of eight months to deal with the pain of the burn. That theory was soon to be disproven however as the length of time increased that I had been off the medication. The frequency and severity of the attacks also greatly increased to the point I was having an attack every 7 to 10 days, and presenting to whatever Emergency Room was closest every time.
Thankfully after about 3 years of this the attacks had seemed to decrease greatly, happening maybe only 3 or 4 times a year. During this time the doctors ran me through every test they could possibly think of to try and determine what was going on. Most of them showed nothing at all physically wrong, the only real consistent thing revealed was a greatly increased white cell count during every attack. The amount of theory, conjecture and false diagnosis during this time was ridiculous. Unresolved infection in the burn, crohns disease, colitis, irritable bowel, psychological disorder, and the ever present assumption of drug seeking. Between the stresses the attacks had on my body, and the associated feeling of being a lab rat for a system that was never going to figure out what was wrong with me I was in a very poor state of mind.
In 2001 I had a pretty severe attack that had the ER physicians and Internalists concerned enough that they decided to conduct an exploratory procedure to see if they could determine anything from an inside viewpoint. When I awoke I was informed that my gall bladder was “rotten like a bad apple” and that it had been removed. They assured me that it had been the sole issue of all my worldly woes and that in short order I should be feeling as good as new. I still remember the feeling of relief and elation when they said that to me. I also still remember the feeling of hopelessness I had 6 weeks later when I had my next attack.
Enter the second round of conjecture and theory, the whole while subjecting me to every test imaginable, numerous times, no matter how invasive. And I did them all, because I knew there had to be something wrong. The other alternative, that I was crazy, I just didn’t want to accept.
In 2005 things took some interesting turns. Although my attacks still came every month or so I was feeling pretty good in May of that year. My sister and I decided to spontaneously drive down to Las Vegas for the weekend for a bit of fun. Oh what fun it was to be… We stopped just outside of Vegas to eat, and as I took the first bite I knew an attack was imminent and sure enough it came on very fast and furious. I spent the first day laying in the hotel room while my sister went to the strip, with the exception of the 6 hours I was forced to lay outside in the blazing sun after having locked myself out of the room and not being able to get a new key as my sister hadn’t registered my name on the room. Those with Porphyria can imagine the effect that had on my attack. When my sister came back I was in bad shape and she rushed me to the hospital.
They actually got me feeling better very quickly surprisingly. Or maybe it was my stubbornness of not wanting to miss the fun of Vegas, either way I signed myself out after about 20 hours against recommendations, leaving at about 8 in the morning. I enjoyed the most of the day, having a few minor issues but nothing serious. That changed come about 7 that evening when the attack started again, this time more severe than any other I had ever experienced. The first hospital refused to see me as I had signed myself out earlier. By the time we arrived at the next closest hospital I was literally near death. My liver had almost completely stopped functioning and I wound up in the ICU, and later admitted for two weeks before I was stable enough to take a flight back home.
The amount of pain that followed the next months was incredibly unbearable. My then GP worked through almost every painkiller there was with me before we found one that didn’t have severe side effects of one sort or another, OxyContin, and I began taking it like crazy to control the pain.
In November of that year I finally had an appointment with a well-regarded GI specialist in Calgary. After telling him my symptoms and history he immediately said it sounded like a very rare disease that he had never actually encountered in his practice, Porphyria. After departing his office and doing my own research I had absolutely no doubt that finally I had the answer to my issues! Again I was ecstatic! The doctor ordered blood tests and the 24 hour urinalysis. And lo and behold, they both came back negative and the prognosis was dismissed by the doctor yet again.
After what I had read by professionals and other patients online I wasn’t so quick to be dismissive however. After all, this was the only disease I had found where every symptom fit like a perfectly placed puzzle piece. I found out about the DNA testing that was available at Mt. Sinai and inquired about it. My GP was willing to set it up for me, the only drawback was it would cost $1000.00 US and not a penny of that was covered by either Government healthcare or my private insurance. I didn’t let that stop me however. That month my landlord did not receive her rent…
Six weeks later the results were in and it was conclusive that I indeed did have AIP. I finally had an answer, and again I was ecstatic thinking that was the end of it! Unfortunately I was very, very wrong. You see, during this whole period my pain was still there, and due to my body becoming used to the pain medication the amount I was being prescribed kept going up and up. Eventually I was taking 80 mg of OxyContin every 4 hours, with maybe 4 or so Percocet in between doses for breakthrough pain. At one point I ran out of pain meds for a single day and felt horrible.
I bluntly asked my GP if I was becoming addicted and he assured me that OxyContin was not addictive according to the manufacturer Purdue Pharmaceuticals, and further “Shayne, you have never struck me as having an addictive personality.” So I continued with taking them as ordered. For years.
I really discovered how wrong he and Purdue were three months later when I arrived at his office for a scheduled appointment to find it locked and empty. 12 hours without the Oxy and I was at the hospital going through withdrawal. They refused to give me anything and the doctor flat out told me that my GP had caused a major epidemic of addiction in our small town with his very liberal prescribing of opioids. He told me that I should call the College of Physicians and Surgeons to inquire, which I did to find out his ability to prescribe medications had been suspended hence his quick closure.
I searched high and low to find a doctor to prescribe me more pain meds as I was getting very ill, all to no avail. It’s hard to get a prescription for OxyContin when you are taking three times as much daily as the average terminal cancer patient. It came to a point I had to check myself into our Government funded detox center, which unfortunately is really nothing more than a place where you can lay in a corner and detoxify and they will call an ambulance if you happen to die. That was the worst 10 days of my life coming off that horrible medication, I’m very thankful I did not have an attack during that time as I’m sure I would not survived it.
However, I came out the other side as they say. And when I did, I threw every medication the doctor had me on away, and something very interesting happened. My attacks started to decrease. Instead of once every 4 to 6 weeks it became once every 8 to 10. Then once every 3 months or so, and then in December of 2010 I stopped having them at all.
In fact, I felt great. Better than I had in 15 years, it seemed as if the disease had gone into full remission. Could Porphyria do that? None of the few doctors I remained seeing had any idea, and frankly I didn’t care because I was basking in the glory of my newfound health!
In 2012 I started a new career, in what was really a dream job for me. I was living a rock star like life, doing an incredible amount of traveling and interacting with a lot of very famous people. I was on top of the world. That is until 2013 when a trip to Montreal found me in the first attack I had been subject to since 2010. And then I had another. And another. And the cycle of attacks returned. The doctors at one point said that the shunt where I had my Gall Bladder removed had become infected and that it wasn’t the disease flaring back up again. Again that proved to be just wishful thinking as the attacks continued, but mostly only when away on work trips.
In the first few months of this year I had three consecutive attacks on three consecutive trips that wound up with me being hospitalized. I really didn’t have a choice but to stop doing the travel portion of my job, which has been a very hard pill to swallow in this ongoing battle with this horrible disease, but really I had no option as it almost seemed that it was the flying that was causing the attacks. My coworkers and I have exhausted ourselves thinking of possibilities of what is causing the attacks to happen, and every lead has proven unjustified in the end.
And now here I am. 20 years later and I really have no more answers than I did on the day of that first attack, besides having a name for what my condition is. I did have an incredible stroke of luck however as I was forced to have to replace my GP as I had not done that since my previous drug pusher vanished into the night. After trying a few I stumbled onto one where we really clicked. He took my case and has been the best doctor I’ve ever encountered, very willing to work with me to find possible causes, and to ensure that my medication needs are accurate and monitored. In turn he has also referred me to an amazing GI specialist who has taken my case very seriously as well despite knowing nothing about Porphyria on the day I walked in to see him. He now has standing orders set up in my local ER to ensure I am treated properly while in attack, and is also fighting through the regulatory red tape to get me Heme treatments here in Canada.
I would love to be able to say I’ve kept my chin up throughout this entire ordeal, but that would be an outright lie. I’ve gone through a lot of very dark depressive episodes during these past years, I’m sure that is a very common bond with every sufferer of Porphyria. In truth this is one of those diseases that I would never wish upon anyone, no matter how much I may dislike them.
And that’s my AIP story in all its gritty glory and longwinded detail. There are points I’m not proud of, the permanent opioid addiction that I have while still requiring the use of them for pain. The times I’ve thought that it would be easier to end it all. I honestly thought about omitting those facts in this story, but then reconsidered as I’m sure that a few or more fellow patients reading this will probably be able to relate to those issues.
If I could offer one piece of advice to any fellow Porphyria patient it would be to surround yourself with people that truly care about you. I am very lucky in the fact that since the recurrence I have a very strong support network in the coworkers I have mentioned previously. They are truly my rock, and it’s vitally important to have those sorts of people to help you through the low periods that are bound to occur whether you want them to or not.
I leave you with this quote by Maya Angelou;
“I can be changed by what happens to me. But I will not be reduced by it.”
~ Shayne Henkelman, AIP