For years they have been working on a drug for EPP sufferers so hopefully you can go outside in the sun and not pay for it afterwards with painful blisters and scarring- not have to fear the sun.the new drug is called AFAMELANOTIDE and I've been hearing great things about it from EPP sufferers, we had some brave souls with EPP agree to volunteer to be in the clinical trials and now they are trying to get the FDA to quickly approve phase III of this drug, so that these EPP sufferers can get some damn relief as soon as possible. American Porphyria foundation has been spearheading this campaign with congress and doing very well I might add, way to go APF!! If you would like to know more about EPP, the new drug afamelanotide and how to help gain FDA approval for this new treatment so these ppl can have a sun filled life again, check out this link below, all the instructions are there-
Porphyria Purple Light Blog- EPP trial info
I got this info on the eight different porphyria types from the american porphyria foundation website, for more about the eight different porphyria types and how to diagnose, go here;
American Porphyria Foundation- About Porphyria
The last time I worked on this blog honestly I just did some editing and cleaned it up so it would be more enjoyable for my readers. I made a blog post a while back about heavy metals and porphyria because I thought it was a very relevant topic- if you haven't read it yet I highly suggest you check it out, it's a very short read as I try to keep all my posts not too long.
Here's the latest on me- I am 34 yrs old now, I was 30 when I began this blog and very very ill from a very severe porphyria attack, I wanted to share my story with the world in case I could help just one person out there. I had one of the highest porphyria precursor counts in history and still lived. For years we have been trying to lower my too high precursor count and control my debilitating attacks, if your reading this and are not familiar with what porphyria attacks are and do not know my story, my whole porphyria diagnosis to treatment story is on this blog, just scroll down and you'll find it, it's my longest blog post titled my porphyria story. It will give you a better idea of what aip is, how dangerous porphyria attacks are, etc. Attacks can be life threatening and can lead to needing a liver transplant, interestingly enough a liver transplant will also cure aip, recently a very brave American young woman recently had the major liver transplant surgery to stop from having porphyria attacks. She said the liver transplant surgery was so painful she almost regretted having the transplant afterwards but eventually she felt better and now she has no more aip attacks- she is essentially cured!! She is a very brave girl, most porphyrics are not willing to go through the risk of having a major liver transplant surgery just for a cure for aip attacks. There is also the risk of a new donated liver not taking, and then to be blunt- your pretty much screwed unless you can find another liver in a hurry, which is almost impossible, and yes rejection of donated organs does happen- so there is a risk involved, it's not just about braving the pain. Some of us porphs may not have a choice in the long run, after having years of attacks sometimes we are forced to have a liver transplant because our own liver has been so damaged from these aip attacks and toxic porphyria precursors. That's the options us severe porphs are faced with, it's not much choice, but hopefully that will change in my lifetime- more to come on this topic later.
Now for an update on my life-
Well I'm still alive- for those of you who are wondering- lol, no just kidding, anyway(if you can't joke about life and death right) . The real skinny is that I am actually doing somewhat better but I am still having aip attacks at times of stress and sadly I still suffer from severe aip symptoms like nerve damage and I am still pretty much bedridden every day because of it, the internet is pretty much my connection to the outer world. I have a care worker who helps me accomplish things around the house and runs errands for me and my mom helps me a lot too, although she was diagnosed with MS not too long ago, which saddens me greatly. I have been getting up and walking more around the house, but I still need my wheelchair for shopping, etc. So I am really counting on this gene therapy cure that's suppose to be coming for severe aip patients like me. Once I have the gene therapy I see having more of a normal life again, maybe even going back to work again one day or college.
I have been cleaning more and being more active than I use to be, my count has come down some but it is still at attack range, which is 10x-20x normal range, normal range is 2.4 for PBG's. Mom got me two dwarf bunnies to cheer mt up, that I have managed- despite my illness- to take care of them very well. I clean their cages and everything. I also love making jewelry, so I keep myself from getting depressed. I've never thankfully been a person who suffered from depression- though most ppl would not be able to live my life without being depressed- most ppl would not be able to live my life at all- but yet I find happiness every day and usually laugh everyday, sometimes I cry too, but I am always hopeful for my future and with this new cure coming sometimes I even talk about what I'll do if I get my life back. I always say that no matter how hard my life is- someone out there always has it worse. Like Joe Dirt says "You gotta keep on keeping on" right on, have a blessed day and remember to count your blessings- not your unblessings. :)
Proverbs 12:17, A truthful witness gives honest testimony, but a false witness tells lies.
Proverbs 6:12-15, A scoundrel and villain, who goes about with a corrupt mouth,who winks with his eye, signals with his feet and motions with his fingers,who plots evil with deceit in his heart— he always stirs up dissension. Therefore disaster will overtake him in an instant; he will suddenly be destroyed—without remedy.
Psalm 15, LORD, who may dwell in your sanctuary? Who may live on your holy hill? He whose walk is blameless and who does what is righteous, who speaks the truth from his heart and has no slander on his tongue, who does his neighbor no wrong and casts no slur on his fellowman, who despises a vile man but honors those who fear the LORD, who keeps his oath even when it hurts, who lends his money without usury and does not accept a bribe against the innocent. He who does these things will never be shaken.
1 Timothy 6:10,11, For the love of money is the root of all evil: which while some coveted after, they have erred from the faith, and pierced themselves through with many sorrows. But thou, O man of God, flee these things; and follow after righteousness, godliness, faith, love, patience, and meekness.
Psalm 12:5, Because of the oppression of the weak and the groaning of the needy, I will now arise, says the LORD, I will protect them from those who malign them
A chemically sensitive disorder, porphyria is activated by certain triggers. These triggers include hormones, smoking, alcohol, stress, infections, injuries, fasting and dieting, and contraindicated medicines. When it is activated, porphyrins, or porphyrin precursors accumulate in the blood to a dangerous level causing severe, bizarre symptoms during acute porphyria attacks. Symptoms of the acute porphyric attacks include pain in the chest, stomach, limbs and back; also muscle numbness, hyponatremia, cramping, vomiting, ileus, seizures, tingling, paralysis and personality changes. Acute attacks can last for days to even years. Excessive porphyrins in your liver and kidneys can also lead to severe liver and kidney damage that may eventually require a transplant.
These porphyrins, or also called porphyrin precursors show up in urine. Given some time in a jar, my pee turns a deep reddish purple. A classic sign of aip. When I was younger, immunizations I was given, injuries I had, hormones I developed and different contraindicated medicines I was given for injuries and illnesses, activated my porphyria, my DNA defect. I had acute attacks as a child, we just didn't know that’s what they were. My attacks were not too severe and I would finally recuperate with time, when I would be in the intermittent stage.
At twenty-one, while at work I stapled my finger and broke it and I had to get a tetanus shot and numbing shot afterwards. I started having some of my first more severe and strange symptoms. There were these little jerky spasms throughout my body which was very scary and I was having intense lower belly pain and bad thigh and lower back pain, along with having nausea and vomiting that wouldn't go away.
The first time I went to the ER, my symptoms were attributed to a panic attack and possible flu. I was given some anti-anxiety allergy medicine and I was expected to recover in a few days. I took the medicine, but my symptoms didn't go away with time. After more trips to the ER, I was told I had an ovarian cyst and a possible torsed ovary because of the cyst and that they could be causing my pain and nausea. An OBGYN was consulted and I was advised to have a pelvic ultrasound and then laparoscopic surgery. I agreed to have the surgery in a desperate attempt to relieve my symptoms and was wheeled into surgery at around 10 pm that night.
Post-surgery, the next morning, I was okay at first, but then my pain started increasing dramatically and my blood pressure got really high. I developed an upraised, very red "rash" over the whole post-surgery area that felt like painful nails clawing me from the inside out and felt hot and burned. I was told it was a possible allergic reaction to the CO2 they had used during the surgery to inflate my belly. I started feeling nauseous and was vomiting again immediately. My nurse had to give me pain shots all day long, as I was in intense pain and begging for them. I didn't think it was possible to feel worse than before I'd had the surgery, but I did. I wasn't getting any better at all. I didn't see my doctor until that next evening when he came to release me. I was worried about how much pain I was in and he told me he would prescribe me some more pain medication to take at home. He told me I would get better and to go home and walk around and that he'd see me in a week. I was scared but I wanted badly to go home so I went home and did what he said, walking around everywhere, but I still was getting worse and I wasn't sure if it was because of the surgery I had or not.
A couple nights after I was sent home, I went back to the ER again because I was way worse after my surgery. My next ER doctor learned of my symptoms, and examined the odd red area from the surgery that was still on my lower stomach, which still felt like painful and hot, and he diagnosed me with the common flu. He prescribed me some more pain and anti-nausea medication and sent me home.
My symptoms continued all that night despite the medicine. When I got up the next day I felt so bad and I had been throwing up for almost two weeks. I got up to go use the bathroom as I always did when I awoke. It was down the hall from my room and seemed a long way away to me. I don't remember what happened after that. My mom and step dad later told me that as I came out of the bathroom, I bent down to move a fan that was in my way, fussing about it , saying "What is this fan doing here?" and then they heard me hit the floor. My step dad was leaving my bedroom at the end of the hallway taking a cup with him and going toward the living room and my mom was on the living room steps. They told me later that they could tell from the sound and feel of my fall that I had collapsed completely unconscious. My mom told me that my step dad was the first to see me because he was closest to me and that his voice sounded so strange as he yelled to her, "Oh, Oh, Phyllis, she's having a seizure!" My mom rushed to see me lying there, my whole body seized. It was a full gran mal seizure. My mom stayed with me and kept me immobile while my step dad ran barefoot down the street to the local gas station to call an ambulance, because we didn't have a phone at the time. Shocked and frightened, they watched me have another seizure, coming in and out of consciousness between each one of them. My parents held me still during the seizures so I was still on the hallway floor outside of the bathroom where I'd fallen when the ambulance arrived. I seemed to look okay to the EMTs and my mom told me that I talked to them and said that I didn't want to go to the hospital. I don't remember much at all. I was legally an adult at the time, so the EMT's said it was my choice and they weren't going to take me to the hospital. Having witnessed me have two gran mal seizures, my mom and step dad knew that I was not okay and not at myself. Thankfully, my mom convinced them to take me to the ER in the next city over.
I had more seizures in the hospital ER and they decided to send me to a bigger hospital in Cape Girardeau, Missouri. A friend, who actually worked in the local hospital, stayed with me while my parents went home to pack some stuff to prepare for a lengthy stay in the hospital while the doctors tried to figure out what was wrong with me. I was transported by ambulance to the hospital in Cape where I was placed in ICU for the first two days.
My doctors at Cape didn't know and couldn't figure out what was wrong with me. They decided to treat my seizures and other symptoms first so they started giving me meds like valium and prilosec. The medicines they gave me to treat my symptoms didn't work and most of them made me worse. What was confusing to the doctors was that there were times when I would feel better and sit up and talk. I seemed to be having these kind of attacks of severe pain and seizures, but in between these attacks I was okay to a point. My symptoms included big and small seizures, severe body pain, ileus; where my bowels stopped moving, hyponatremia; in which my sodium bottomed out, racing pulse, urine retention and hypertension. My doctors believed that my hyponatremia was what caused me to have seizures, my sodium level was extremely low and it can kill you if it gets too low.
My mother implored my doctors to try to find out what was wrong with me before they gave me any more medicine that wasn't working. Some of the doctors didn't like that very much, but she never let that stop her from fighting for me. She actually researched my symptoms in the medical library at the hospital and came across "porphyria". The aip symptoms matched mine exactly and she suddenly remembered, that when she was pregnant with me, she overheard my grandmother tell my father that her mother, my great grandmother, was sick with porphyria and in the hospital. My mother had struggled for several years after I was born to get doctors to talk to her about porphyria, but their lack of knowledge of this rare disorder and unconcern led her to reluctantly drop it. And that side of my family never talked about porphyria or the possibility that I could have inherited it.
Now my mom was convinced that I had aip and she went up to my doctor and asked him could it be porphyria. He literally flinched, and she told me that he was convinced right then and there that that’s what I had. It all made since, my symptoms, the meds making me worse instead of better. He then researched, found, and ordered the porphyria test--a very specific, 24-hour urine test that determines the porphyrins in your blood. It is then carefully handled and packaged and sent off to the lab. He immediately took me off of all medication. He suspected they were only making me worse. He discovered that a lot of the meds I was being given was on the list of what not to give someone with porphyria, because it makes them sicker. It was very hard having all my medication taken away from me, but it helped me in the long run. He suspected I was in an acute porphyric attack and he was afraid for my life, literally my symptoms scared that doctor, and me and my family. I had stopped having seizures, but I was still having the severe pain and vomiting symptoms and my pain was getting worse. He decided to send me by ambulance to Barnes Jewish Hospital in St. Louis MO. before the test results could come back. He was sure that at Barnes they would be better equipped to treat my rare disorder.
At Barnes things got worse before they got better. My first newly assigned doctor at Barnes considered several other possible diagnosis' for me other than aip and he ran many tests on me while I was having this acute attack, and it made it torturous for me. My whole body was being affected by this prolonged acute attack at the time. Even my eyes hurt when I would look at people, so I couldn't stand to look at people and at times I couldn't stand the activity that was around me, so everyone would have to stop and be still and turn the lights off. I had severe nausea and vommiting, I mean projectile vommiting, and bad insomnia, because of the severe pain and the attack, I couldn't sleep. It's hard to describe the agony I was in, I felt like I was dying by torture. I tried to move away from the pain but it just followed me, every which way I moved. I came very close to start having seizures again at Barnes. I would get stiff as a board and would go like catatonic afterwards for a few minutes. The doctors didn't see it, but the nurses did so they were able to document it. The doctors decided to put me through an epilepsy test to try to catch the seizure activity in my brain, but it was just torture for me, and they never did catch one. They put me in an MRI machine and it did show abnormal activity in the brain from my seizures. This doctor refused to treat me as an aip patient who was having an attack and he accused my mom of munchausen biproxy, we were able to discredit this diagnosis though with some help from some of my nurses who were confinced that my mom was not making me sick. This doctor made it very difficult for my mother to take care of me, he wanted her away from me, his patient so he could run endless tests on me without her interference. She only fought for what I wanted, no more tests, but I was too weak and vulnerable to advocate for myself. He was eventually taken off my case by the hospital administration. I had my mother, and a lot of nurses and hospital staff fighting against this doctor for me. (Aip patients are very different than most patients, and doctors and staff have to adjust, which is just not done usually. It is very hard for a doctor to take someone telling them, you can't run this test, it is only hurting her or him, or you can't give her or him this medicine, it only makes them worse. Or don't crowd around the patient please, or sorry I can't see you right now doctor I'm too busy being sick and throwing up or sleeping for the first time in 3 days, can you come back?. A doctor having to wait on a patient, it just doesn't happen. But these are all the things that are required in order to get better.)
Then the test results came back proving I had aip and everything changed. All the doctors attitudes changed for the better, and they actually started to listen to us about what made me feel better and what didn't. I WAS having a life-threatening attack. After trying to convince the doctors we were finally backed up by real tests and I had my diagnosis about what was really wrong with me. My porphyrin count was dangerously extremely high. I was also diagnosed at the same time with Epstein barre, which was causing me to have mono too. The next doctor they assigned to my case was a pulmonologist. He and his interns researched my rare blood disorder and found out that there is no cure and only one very expensive and controversial treatment; which is a supplement of the heme missing from my blood. It is not a cure, but more of a prevention and treatment. Only one company in the world made it at that time. My doctor found them for me and managed to get the heme treatments donated to me. While we were waiting for the heme to arrive, they put me on a morphine pump to control my pain, which helped me the most, it gave me so much relief and I was able to sleep- this pain management was following acute porphyria protocol. Treatment of acute attacks focuses on eliminating symptoms, because the symptoms drive the porphyria attacks. Stopping medications which may have triggered symptoms, IV glucose, sodium and fluids to combat dehydration(but not too much IV fluids because this can be very dangerous for porphyrics and can cause fluid to build up on the brain), maintaining a high carbohydrate diet, medication to control the pain and nausea, prevention and careful, prompt treatment of infections or illnesses that may have caused the attack. I was starting to get the treatment I needed after almost twenty days in the hospital to save my life. I got my heme treatments. Which is a scary procedure involving a huge needle being inserted into the vein in your arm and the heme is delivered through the needle to the vein. The heme itself looks like thick, greenish-black swamp water. We all could tell that I improved slightly during my treatments, which I got through a midline in my arm. I was able to rest, I was throwing up less and less, my pain started to come down slowly and enough that it could be controlled through a scheduled oral dosage. My seizures went away completely, but I soon learned, that as a result of this severe attack, my liver was malformed and I sustained kidney and nerve damage, which causes me chronic pain. It's possible it is going to take years for me to recover they told me or I might never be the same. In order to leave the hospital I had to get up and walk around, which I did not understand having to walk around after having a severe attack, and we had to find a local doctor willing to take my rare and difficult case. I got up and walked around with my Mom's help and patience and a great local doctor agreed to take my case after much begging and I was finally able to go home about a month and three hospitals later since I collapsed on my floor. I attribute my diagnosis and treatment that saved my life to my mother for finding out what was wrong with me and insisting I be tested for porphyria without her fighting for me I may not have made it home alive, my count was one of the highest counts ever almost over 10,000. Believe me, just because you go to the hospital doesn't mean they will know what is wrong with you and be able to fix you. I never imagined I would have a rare blood disorder but I do.
After I got home, it took ten months but I finally stopped throwing up everyday. I have to take a very powerful anti-nausea medicines reserved for chemo patients and a powerful pain medication or I would still be doing it. I assumed that I would be able to resume my active life but any activity and any kind of stress, even good stress, made my porphyria more active, so I have to avoid it. Mainly because my blood pressure gets dangerously high when I'm active. I also have severe chronic severe pain, hypertension, peripheral neuropathy and muscle weakness. When I'm not having to stay in bed, I need my wheelchair to get around. This was the time that I had to fight for my SSI disability. I couldn't work and had astronomical hospital bills to pay. I wouldn't have gotten my disability benefits if my family hadn't driven me to my doctor appointments and my disability hearing. Missouri Protection and Advocacy took my case after I was denied and we won.
I'm still bedridden after six years. My pain and nausea, weakness and hypertension still worsens from activity. I'm still in an acute phase, but just recently my porhyrins dropped below three thousand and we are hopeful that I will recover more with time. I've had one more heme treatment in the hospital since Barnes and I need more regularly, but I had phlebitis in both arms due to the treatments through the pick lines in my arms, so I can't get anymore treatments for a while, till my arms heal more. My body heals poorly because of the AIP so I have to watch out for infections, colds and flu’s, also porphyrics can't take most antibiotics. Heme treatments work better for prevention of acute attacks and not treatment for after you've had one, but they helped save my life anyway.
I would like to say a special thanks to Ian Langtree, the creator of Disabled-World.com and to:
My doctors who helped save my life
Scott Portwood, gone but never forgotten
and my Mom
email me at: Ced936@aol.com
I have a song, deep in my heart,
and only I can hear it.
If I close my eyes and sit very still
it is so easy to listen to my song
When my eyes are open
and I am so busy and moving and busy,
if I take time and listen very hard,
I can still hear my heartsong.
It makes me feel happy.
Happier than ever.
Happier than everywhere,
and everything and everyone in the world.
Happy like thinking about
Going to Heaven when I die.
My heartsong goes like this-
I love you! I love you!
How happy can you be!
How happy can you make this whole world be!
And sometimes it's other
Tunes and words, too.
But it always sings the same special song.
But do you know what?
All people have a special song
Inside their hearts!
Everyone in the whole world has a special heartsong.
If you believe in magical, musical hearts.
And if you believe you can be happy
Then you, too, will hear your song.
-Mattie J. Stepanek
Mattie Stepanek was a special young man born with a rare form of MD, which is short for Muscular Dystrophy, it robbed him of his mobility and eventually it robbed him of his life, but as you can see from reading his poem, it did not rob him of his love for life and the people in it. He was a very talented young man who actually became a published author and inspired disabled and non-disabled people alike. He caught the attention of Oprah Winfrey and appeared on her show several times. He was a very sweet, creative and loving young man and I thought I'd share one of his poems here on my blog.
When I was younger and I heard people say that there is a reason for everything, I liked that saying, it seemed to ring true to me. I maybe even believed it. Now I'm a little bit older, and I've been through tragedies and illness, I've started to think about that saying again. Is there a reason why an innocent child dies or a loved one gets ill? I mean, if you have a child of yours die and somebody tells you there was a reason for it, you see how it feels. Everyone doesn't understand how God could allow such pain and suffering in the world. He allows it because he gave us a choice, to cause the world and the people in it pain or to bring them joy. Free will. There are some mysteries still left in this life, illnesses, for example. I do believe God can heal sick people and that he has done so before, but I don't believe that he just won't heal some people. Who knows he may have saved their lives already, many times. We really need to look for the miracles and blessings in our lives, I promise you they are there, no matter how bad your life is.
"Without pain, there would be no suffering, without suffering we would never learn from our mistakes. To make it right, pain and suffering is the key to all windows, without it, there is no way of life." -Angelina Jolie
Here is the link to my disability story, I finally finished writing it. I had to research my rare blood disorder to help me write it. It is difficult to explain porphyria online and what it does to you. My mom helped me a lot in the places I had a hard time remembering what the hell happened because I was so sick at the time. Disabled-World encouraged me to write my story. I was once a healthy person, like most of you, but I'm now stuck in bed and use a wheelchair. Believe me, it is worth clicking on this link below to read my story, you can use your browser arrows to go back to this page once your done reading it.