Members & Followers

Tuesday, September 1, 2015

Shayne Henkelmans story with AIP

Shayne Henkelman

Type of Porphyria: 
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



  
                          "Remember....Research is the key to your cure!"

Wednesday, August 26, 2015

Dont Forgot To MOO'VE it

  The "MOVE IT IN THE MOONLIGHT RUN" In Burlington, NC on August 28, 2015

The location of the run is now determined: Chick-fil-A University Commons at 1477 University Dr. Burlington, NC 27215
Please register and join the awareness run. It was organized at night so that people with photosensitive porphyrias can participate too.
You can find out more details and information about the run on the website:



 "Remember....Research is the key to your cure!"

Tuesday, August 25, 2015

Bent Rods Bass Club Fundraising & The Barrel Race in Vernon, TX

Bent Rods Bass Club Fundraising
We invite you to the Bent Rods Bass Club for the fundraising tournament. Bent Rods Bass Club strongly believes in giving back and in the Karma of helping others, so each year they pick a new Charity to support. For 2015 they have picked the APF.  For fundraising event they will be hosting the Bent "mini" Rods Challenge and raffling off a custom built bait casting rod & reel.
Please watch the video:
Location:  Deep Lake, Lake Villa, IL.  Jack & Lydia's Resort.
Entry Fees: $20 per angler.
If you want to help us give back and buy a raffle ticket for the custom rod, contact the treasurer: buster@bentrods.org.

The Barrel Race in Vernon, TX
We also would like to remind you about the upcoming undertaking from the Cook family. As you may know, the Cook brothers, Cason and Caul, have EPP and have set a great example about enhancing awareness of the disease in their local area. They have been hosting a Hat Day for many years in their home town of Vernon, TX. This year, in addition to a Hat Day, Cason & Caul are hosting The Shadow Race (benefit barrel race) in Vernon, TX in November.  They are getting some t-shirts together to sell as well. We appreciate all your support in raising awareness!


"Remember.....Research is the key to your cure!"

Monday, August 24, 2015

From NIH- A must Read

From NIH  A Must READ


Porphyria

    
Porphyrias are a group of rare disorders passed down through families. An important part ofhemoglobin, called heme, is not made properly. Heme is also found in myoglobin, a protein found in certain muscles.

Causes

Normally, the body makes heme in a multi-step process. Porphyrins are made during several steps of this process. Patients with porphyria are lacking certain enzymes needed for this process. This causes abnormal amounts of porphyrins or related chemicals to build up in the body.
There are many different forms of porphyria. The most common type is porphyria cutanea tarda (PCT).
Drugs, infection, alcohol, and hormones such as estrogen may trigger attacks of certain types of porphyria.

Symptoms

Porphyrias involve three major symptoms:
  • Abdominal pain or cramping (only in some forms of the disease)
  • Sensitivity to light that can cause rashes, blistering, and scarring of the skin (photodermatitis)
  • Problems with the nervous system and muscles (seizures, mental disturbances, nerve damage)
Attacks can occur suddenly. They often start with severe abdominal pain followed by vomiting and constipation. Being out in the sun can cause pain, sensations of heat, blistering, and skin redness and swelling. Blisters heal slowly, often with scarring or skin color changes. The scarring may be disfiguring. Urine may turn red or brown after an attack.
Other symptoms may include:
  • Muscle pain
  • Muscle weakness or paralysis
  • Numbness or tingling
  • Pain in the arms or legs
  • Pain in the back
  • Personality changes
Attacks can sometimes be life threatening, producing:
  • Low blood pressure
  • Severe electrolyte imbalances
  • Shock

Exams and Tests

Your doctor will perform a physical exam, which includes listening to your heart. You may have a fast heart rate (tachycardia). The doctor may find that your deep tendon reflexes (knee jerks or others) do not work properly.
Blood and urine tests may reveal kidney problems or other problems. Special tests can measure porphyrins in the blood.
Some of the other tests that may be done include:

Treatment

Some of the medicines used to treat a sudden (acute) attack of porphyria may include:
  • Hematin given through a vein (intravenously)
  • Pain medication
  • Propranolol to control the heartbeat
  • Sedatives to help you feel sleepy and less anxious
Other treatments may include:
  • Beta-carotene supplements
  • Chloroquine
  • Fluids and glucose to boost carbohydrate levels, which helps limit the production of porphyrins
  • Removal of blood (phlebotomy)
Depending on the type of porphyria you have, your doctor may tell you to:
  • Avoid all alcohol
  • Avoid drugs that may trigger an attack
  • Avoid injuring the skin
  • Avoid sunlight as much as possible and use sunscreen when outside
  • Eat a high-carbohydrate diet

Outlook (Prognosis)

Porphyrias are life-long diseases with symptoms that come and go. Some forms of the disease cause more symptoms than others. Getting proper treatment and staying away from triggers can help lengthen the time between attacks.

Possible Complications

When to Contact a Medical Professional

Get medical help as soon as you have signs of an acute attack. Talk to your doctor about your risk for this condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to sunlight.

Prevention

Genetic counseling may benefit people who want to have children and who have a family history of any type of porphyria.

Alternative Names

Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria

References

Anderson K. The porphyrias. In: Goldman L, Schafer AI, eds.Goldman's Cecil Medicine
Fuller SJ, Wiley JS. Heme biosynthesis and its disorders. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, eds.Hematology: Basic Principles and Practice

Friday, August 21, 2015

Flash back from the New England Journal 1960 read and share

Free Preview for The Problem of Porphyria — Some Facts and Questions
*The second annual Chester M. Jones Lecture, presented in part at the Massachusetts General Hospital, Boston, March 18, 1960.
From the Department of Medicine, University of Minnesota Medical School and Hospitals.
Aided by the John and Mary Briggs Fund for Porphyria Research, and under a contract with the Research and Development Command, Surgeon General's Office, United States Army.

This was provided by the New England Journal good to read and keep

Thursday, August 20, 2015

Genetics 101: Basic genetics and inheritance of Porphyria

Genetics 101:  Basic genetics and inheritance

In order to better understand the Porphyrias and how the disorders are inherited, it is helpful to understand some concepts of basic genetics and inheritance patterns.

DNA, Chromosomes, and Genes:

Deoxyribonucleic acid (DNA) is a nucleic acid that contains the instructions used in the development and functioning of all known living organisms and some viruses. DNA is often compared to a set of blueprints or a recipe or a code because it contains the instructions needed to make certain proteins, which are the complex molecules that do most of the work in our bodies. Each of these proteins has a specific function in the cell, and, ultimately in how the organism develops, its physical makeup, and how it functions day-to-day. The DNA segments that carry this genetic information are called genes. The size of each gene varies greatly, and there are about 20,000 genes that are distributed along the 23 pairs of chromosomes.
A DNA molecule is a twisted double-strand of building blocks, called nucleotides.  It is like a twisted ladder, with the vertical stringers made of phosphates and sugars and the rungs made of pairs of nucleotides. There are four nucleotides in DNA:  adenine (A), thymine (T), guanine (G), and cytosine (C). Also important is that on each rung of this ladder, A always pairs with T, and G always pairs with C. These nucleotides along the ladder are like letters in a word, and put together in their specific order make up the words in a detailed set of instructions. These instructions are read using a special code, called the genetic code.
thumbnail
GenGenome Management Information System,
Oak Ridge National Laboratory
http://genomics.energy.gov
DNA is a double helix formed by base pairs attached to a sugar-phosphate backbone.
Within cells, DNA is organized into long structures called chromosomes. A chromosome is like a cookbook with many recipes (or genes) that tell the body how to function. The human body is made up of trillions of cells and over 200 different cell types like various blood, liver, and brain cell types.  Each cell contains 46 chromosomes. Each chromosome can be identified by its relative size and location of the centromere, a constriction in the chromosome. 


http://www.rarediseasesnetwork.org/porphyrias/patients/genetics101/index.htm

Tuesday, August 18, 2015

A Note from Dr Peter Tishler Office

Hello dear members, we have an open letter from Dr. Peter Tishler to share with you.

To: Individuals with Acute Porphyrias, who are Members of American Porphyria Foundation
Subject: Communication to us the benefits of your medications

Dear Folks,
I have established the American Porphyria Foundation Drug Database, for you all to consult for drug safety (or not) when you are prescribed a new medication. I received information from many of you several years ago, and added lots of your information to the Drug Database. I write you now to ask you to report me the names and results of any drugs you have been taking since the beginning of 2013, so that I can compare your report with the Drug Database and hopefully add new information (OK! or BAD!) to the Database.
Please complete the attached table and send it to the American Porphyria Foundation at 4900 Woodway Dr. Ste 780, Houston, TX 77056, or copy this table and send it back to us via Email. Many thanks!


Medication Name
Date Started
Stopped
Problem with Medication


No
Yes - Date
No
Yes - Nature of Problem

















































 "Remember.... Research is the key to your cure!"