Monday, September 19, 2016

Lina Rebeiz and her personal journey with AIP

  My porphyria symptoms started right after orientation of my freshman year of college. The pain started in my lower back and quickly moved to my abdomen, and within an hour I was curled up in my bed crying. My initial thought was that this must be food poisoning, and that my Resident Advisor's suggestion to go to the ER was ridiculous. When I woke up the next day, the pain had doubled and I began vomiting uncontrollably. I went directly to our student health and wellness center, where I was given Urinary Tract Infection (UTI) medication and advised to visit the ER if my symptoms worsened.
As the pain continued to intensify, I could not believe that this sensation was humanly possible. As soon as I thought the pain had reached its absolute limit, it would double. I finally decided to go to the ER, where I waited hours before being seen, only to be told that I should hydrate and relax for my ‘UTI’ to go away. Nevertheless, because of the intensity of my pain, I was admitted to the hospital overnight while the doctors ran tests. When everything came back negative, I was sent home and told to go about my life normally. My parents, who had come to visit me while I was in the hospital, both scratched their heads at my weird symptoms. Though they are both physicians, they could not think of what could possibly be causing this misery.

After being discharged from the hospital un-diagnosed, I returned to the health and wellness center every day (sometimes multiple times a day) in the hopes that somebody would figure out what was wrong with me. I couldn’t go to the hospital because they had already discharged me without a diagnosis. The pain was too unbearable to attend class, my parents made me feel guilty for staying home to rest, and everyone considered me an over-dramatic hypochondriac. Doctors repeated appendicitis and UTI tests, and every day they would tell me again that nothing was wrong with me. When I would call my parents crying, they would insist that I should trust the doctors and just relax. Unsure of what to do, I stopped going to class altogether because standing up and walking a few feet felt like running a marathon.

        Over the course of a few weeks I lost more than 20 pounds; anything I tried to consume or drink (including water) would instantly be thrown up. After a month of being told that the symptoms were in my head, I started to believe the doctors. I stopped talking to my friends because I could not explain what was wrong with me; I stopped calling my parents and just retreated into my room until I eventually started getting better on my own.

        Several months later, while on winter vacation with my family, my symptoms returned with a vengeance after I started taking birth control pills. My family, convinced that I had suffered something traumatic that I didn’t want to share, insisted that I should take a break from school until I got better. I knew that this suggestion was ridiculous, and that there had to be something physically wrong with me. But without any medical evidence nobody believed me, and so we kept ignoring my symptoms.
After another two weeks, I again became malnourished -- but this time I also became delusional. My blood pressure had risen so high and my sodium had dropped so low that I suffered two seizures. During this episode, all I remember is the recurring feeling of insanity. I experienced mild hallucinations paired with strong delusions, and I always felt confused and scared. I had a constant feeling of worry, but not about anything concrete. Though it sound ridiculous now, I felt like something abstract, perhaps a monster, was out to get me.

It was during this episode that I was finally diagnosed. After the seizures, I was being treated at Tufts Medical Center, where my dad works; I am sure that without his stature as head of the otolaryngology department I would have been ignored once more. It took a whole team of doctors to figure out what was causing my symptoms; with the seizures and the PRES syndrome that followed, we finally had proof that these symptoms could not have been psychosomatic. With a stroke of luck, they sent out the test for Porphyria, and within a week the results came back positive.

When I received Panhematin, I bounced back within two days. After months of hell, I cannot put into words how relieved I was to receive an official diagnosis, and to start treatment. Now, having a diagnosis of Acute Intermittent Porphyria, I am confident that my symptoms will never be as extreme as they were then. I still do have sporadic attacks, but I am now able to recognize them and receive treatment early on. Though every day I wake up and wonder if that dull ache in my stomach, or that abstract feeling of anxiety means that a full-blown attack is coming, I have learned to manage the pain and to take it one day at a time.


  1. Sorry you went through so much but glad some one was able to figure it out for you. I know what you mean by trying to figure out if the pain will be an attack or just the pain for the day.

  2. Although it may sound a little morbid I am happy to read about someone else who has went through the same agony, psychologically and physically, of everyone telling you that you're fine while you wither in pain. It took me 6 years until I was diagnosed with a porphyria and I am still fighting my doctor to do further testing to verify which one. I think I have PCT but until I get tested for ALA and PBG I cannot be officially diagnosed and until I am officially diagnosed I cannot receive medication or treatment. But the doctors just refuse to help. I recently contacted the APF and they are sending information to my doctor so that he understands what I am going through. My first symptoms were a surprise seizure on Christmas eve 2006, then nothing until 4 years later I started getting these blisters from going out in the sun, then doctor after doctor; dermatologists, endocrinologists, urologists, ENTs, several different primary care physicians... all of which just didn't know what to do and either said its all in my head or they prescribed me with topical cortisone creams (for the blisters) and anti anxiety meds. Then one day I went to a gastroenterologist for suspected Crohn's and he just happened to test my urine for porphryins (along with the other gallon of blood he got removed for testing and low and behold there it was. Even with that urine test and having it retested my now hematologist is still reluctant to do the final and recommended tests.

    The biggest obstacle that I have been facing is that each doctor just shrugs their shoulders and moves on with their life, not even recommending me to any sort of specialist. I had to do the research myself and contact almost all of these specialists myself, some of which were not covered under my insurance and I have been paying out of pocket. If it were not for my own research and action I may have never been diagnosed. Doing your own research seems to be a common theme amongst people with porphyria due to its rarity and I cannot stress this enough how important it is. Once I found out I had porphyria I have not touched a drop of alcohol and I haven't had an incident in 6 weeks... that's the longest I have gone without incident in 6 years (previous record was 2.5 weeks). Thanks for sharing Lina.

  3. Wow, you've been through so much, your story is so similar to mine, after highschool, I took a year off from school to help my mom out at home, when I was working at 21 yrs old a few years later, I had always had symptoms of porphyria all my life, but I developed my first really severe attack that day at 21 and started throwing up right after eating, I couldn't even keep liquid down and would have straight up dry heaves and throw up pure bile, I went to the ER and they attributed all my symptoms, abdominal pain, vommitting- to an ovarian cyst, they recommended me for emergency surgery to remove it to relieve my symptoms of pain and nausea/sickness, but not one of us could have known I was in an aip attack and needed heme and IV glucose only. I desperately agreed to have the surgery, trusting in my doctors and I did actually have an ovarian cyst, many women have them, they are a common problem and funny enough commmon with porphyria in women I've found later on- anyway, I agreed to have the surgery because I was so sick and desperate for some kind of relief and the next morning I woke up from surgery, it looked there was like blood in my urine, blood red, freaked my nurse out and I was a little concerned but I tried to stay calm and assume it was from surgery, luckily it went away quickly, but then my Blood pressure went sky high and I mean dangerously high- I'd all my life had low blood pressure, this was the first time I remember the words high blood pressure being used associated with me, my pain levels, which were really bad intolerable already, tripled- it felt like someone was going over my entire body with a straight razor, scraping the skin. I started moaning in pain and scared the other sick ppl in my hospital room. I developed a severely bad reaction to the surgery site, they said I'd had an allergic reaction to the Co2 used to expand my stomach during surgery, I was extremely thin at the time, not being able to keep food down. So it felt like nails were scraping me, burned like fire, ontop of the abdominal pain from the increased attack. They sent me home in really worse shape than when I'd arrived and after going back to the ER again after my surgery, desperate for some answers and relief, they diagnosed me with the flu and sent me home again, unable to find anything abnormal they said. That night I felt like I was literally dying. So the next morning I had had not much rest and I get up to use the restroom, I'm coming out and my parents said I bent down to move a fan and was very irritable, the next thing I know I'm waking up on the bathroom floor with my StepDad holding me down. I had collapsed in front of my parents and went into full gran mal seizure in front of them on the floor, I had never had a seizure in my life before that moment. I stopped breathing they told me, but I came back awake, but was very disoriented and irritable, I struggled with my stepdad, tearing at his shirt a couple times, they said I did that a couple times- once at home and once in the hospital later on when I collapsed again and went into like a catatonic state for a couple minutes, my sodium was bottomed out- it freaked my doctors out. Just uncontrollable frustration that would control me until the pressure built to painful levels and I had to yell or do something to relieve it, it's quite indescribeable, it's like you come back to yourself after it happens and you can never imagine doing anything like that. I'm so happy that you got your heme treatments and got better, I suffered from a prolonged untreated attack and still have severe nerve damage and need a wheelchair, but 3 heme treatments I feel saved my life and I haven't had such a severe attack since then, we know what to do now more for them and prevent them- so nore seizures for me yay, although I still get petit mals, spasms at times in my legs and body. Blessings


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