In August 2014 I had a severe porphyria attack and was later diagnosed with Variegate Porphyria (VP). Prior to this attack I had been going to a hematologist because I thought I may have anemia; It all started in 2012 after feeling worn down on a regular basis – that’s when all the fun began.
In 2014, the hematologist at that time told me I was borderline anemic, in which he suggested, an iron IV infusion. After the iron was given, my urine turned a reddish-orange color or so. I told my hematologist, but I was told to drink more water, which I already did but nothing changed the urine color.
His response to me, “If it’s not broke, don’t fix it” and authorized me to go ahead and get pregnant again because I was “perfectly healthy”. At the time, I had one child, my first child and 5 miscarriages, but no attacks. Long story short, I became pregnant with my 7th pregnancy and was placed on heparin shots as well as one other medication. A couple of weeks later I came home from work with what seemed to be flu-like symptoms. I picked up some over the counter flu medication and went home where I stayed for a week prior to realizing something was definitely wrong. I came home tried to rest and get well but nothing worked. I became severely constipated and though I drank fluids, ate soup and rested, nothing helped. I then started vomiting, dry heaving and having severe stomach pain – something I associated with being constipated for 3-5 days now. At that point the pain spread quickly from my stomach to my spine, down my spine to my lower extremities. I stopped being able to pass gas, my urine stream slowly depleted, I had horrible insomnia and couldn’t sleep more than an hour at a time due to the pain. I lost my ability to walk or stand up straight due to the constant pain in my stomach and extremities and was crawling through my house. I had light sensitivity issues and migraines when any light was on in my home and later at the hospital once I was admitted. At that point I begged my husband to take me to the ER.
We went to one particular hospital twice that week whom only gave me enemas and sent me home. We went to a second hospital and they also just gave me an enema and sent me home. At that point, I called my gastroenterologist because the pain in my stomach and extremities kept getting worse and I was desperate. I begged my gastroenterologist to help me because I hadn’t been able to go to the bathroom in 5-7 days now. He did an emergency colonoscopy, which helped for a few hours due to the pain medications, but the pain soon returned with vengeance being worse than ever before. I went to a third hospital, this time via ambulance and was admitted to the Intensive Care Unit because at this point my sodium levels had decreased too low and I was so extremely sick that they knew something was wrong. However, hospital admittance was half the battle. Once there I was treated often like I was crazy, wasn’t sick, and was possibly a pain medicine seeker but not actually sick. I’ve learned that’s kind of what the medical community does when they don’t know what’s wrong. They write it off as nothing or you’re crazy. My husband fought for me though and explained to the doctors and staff that I don’t take any medicines at all unless I absolutely must. The staff at the hospital stated that they believed that I had begun to have mild seizures. Anyway, my OB gathered together a team of specialist which included a different hematologist, kidney specialist, lung specialist, and others as well as a gallbladder surgeon whom was set on removing my gallbladder. Fortunately, that didn’t happen. My current hematologist stepped in, told them do not remove my gallbladder and said he thought I had Acute Intermittent Porphyria (AIP) since he had one patient that hadn’t had a severe attack but had mild symptoms of porphyria but he needed to send my results to the Mayo Clinic to get confirmation.
The results came back from my urinalysis, stool sample, and blood work and confirmed that I have the PPOX gene that is associated with Variegate Porphyria and have Variegate Porphyria which was also further confirmed later by Mount Sinai in New York City. My hematologist after confirming my diagnoses quickly ordered Panhematin®, which proved to be a life saver. I slowly got better and was out of the hospital several days after treatment but had encountered what appeared to be permanent issues from the prolonged severe attack. One of those was my ability to walk well and without pain. However, I’m still trying to manage the disease and get to a point where I don’t have regular extremity pain, sharp shooting and stabbing pains throughout my body and stomach, and regular nausea and sometimes vomiting. However, I haven’t had any attacks to that magnitude since 2014/2015. I had two treatments for 6 days total then and have begun to have a sequence of more regular treatments now (once a month or quarterly) to attempt to get rid of some of the extremity pain and symptoms associated with the disease.
On a good note I was blessed to conceive my last child without treatments though I had a lot of extremity pain and ailments. My child was born healthy and happy. So, there is hope in good outcomes coming out of horrifying life changing experiences. Stay positive and don’t lose hope.
I hope this story rather shared or not helps bring light to someone suffering like me or at least gives information about my experience with the disease.
Thanks for allowing me to share,