Porphyria Support Group

Nik,
MY name is Tanji I'm 36yrs old,I've been sick since, Dec 5,1999. All my symptoms were suggestive of an acute Porphyria, Which runs in my family. I was just recently diagnosed / Symptomatic EPP By Mount Sinai, after 9yrs &13days, ON Dec18,2008.I Believe mine my have been brought on," by foolish things I did as a teenager".
believe me I know it's not as easy as just going to the doctor. I've been searching for an answer for a long time.
God has been my strength trough it all.
Please get with the Amercian Porphyria Foundation ,I know They will steer you in the right direction.
May God Bless you!

hey tanji,

my current heme says he's 'interested' in porphyria, but that i don't 'fit the profile' as (according to him) 'mostly alcoholics and drug addicts' present with the condition, which i know not to be universally true. he also thinks that porphyria-like symptoms can occur with multiple chemical sensitivity, but still not be porphyria. the issue is, there is really no heredity involved.

i called the porphyria foundation, and they left a message that i've to call back. they seemed to repeat the necessity of having my primary refer me to find a doctor, but he would just pass the buck back to my current heme who doesn't think i have it.

in a rural area, it's a real chore to get a second opinion, and few docs anyway, anywhere want to contradict the first. just in case, when i though i was having a reaction, i tried to test my urine and the color was normal after being exposed to sunlight for 24 hrs. not that that is definitive.

sorry you're going thru this tami. thanks for the support, and i'll try the porphyria foundation again this week.

Hi. My name is Terri and was diagnosed with AIP in 1980. That's not the answer to your question but maybe this is a tip that might lead you to the answer. I remember several years ago, when we were at war in Afghanistan, that there were articles in the newspaper about soldiers that were presenting with cases of porphyria. They had no record of hereditary factors but all had been exposed to agent orange. I didn't understand all of the technical factors but do remember that much. This may be something worth looking into. Perhaps there is something in agent orange that you might be exposed to in an insecticide or something.

I have also been in touch with others over the years who have commented that they even have to avoid preservatives along with the list of medicines to be avoided. However, they were already diagnosed with hereditary porphyrias.

We used to live in a small town and it was difficult getting a second opinion. I can relate to what you are going through. A suggestion was made to contact that Porphyria Foundation and I definitely agree...they are a great bunch of ladies and if they don't know the answer they will know who would.

Chemistry and science are definitely not among my talents but hopefully this info might give you a lead to your answer. Good luck.

Hello nikL,

I can't help with info. on acquired Porph but want to share that I didn't have a history of Porph in my family either. My mom was never tested but suffered many of the symptoms throughout her life.

I was first dx'd with PCT (cutaneous only)in 2005. My symptoms (much like yours) suggested an acute Porph and not just PCT. It took another couple of years and a hospitalization before my Hematologist agreed to test me for Variegate Porph and sure enough, it was positive. Yes, Porphyria is rare. But I don't think it's as rare as the medical community believes. Instead, I think it is under-diagnosed. You might try living
'as if' you have Porph to see if you feel better.

Looking for a diagnosis is an emotional roller-coaster, isn't it?
Be gentle with yourself and take care.

Hi Nikl,
Ewereka again. I agree that it couldn't hurt to follow the rules of porphyria until you can get a diagnosis from someone who knows the disease. I have been told many times that it is all in my head until the test results come back simply because the dr isn't familiar with porphyria. I have been turned down by many doctors because they are not willing to learn about it--almost as if they are afraid of it.

Because we lived in a small town at the time of my first attacks I ended up going to Mayo Clinic. Would that be possible for you? When you called the Porphyria Foundation did you ask if there was a specialist in your area? Perhaps you could make an appointment and pursue this on your own. It might take longer than with a referral but it is worth a try.

We did not know that there was porphyria in the family until I became active because no one else had ever had the amount of trouble that I was having. After my diagnosis, they said that it was necessary to test my parents to verify the type of porphyria that I had. We figured that I had gotten it from my dad. Then, because we had four generations alive at the time of my diagnosis, they used my family for research. Turned out my mom and grandmother had it, but not my great-grandmother. Looking back, the times that Mom had taken birth control she got sick but her symptoms were nothing like what I experience during an attack.

I don't know exactly how much research was done in the military cases that had been exposed to agent orange, I just remember the report saying that there was no family history in each case which is why I thought of it when you asked about chemically-induced porpyria. (I don't think that they even recognized porphyria, let alone tested for it, until the last 30 years and even then it is the last test done.) Maybe they tested family after diagnosis in these cases.

You are on my prayer list for a quick resolution. Take care of yourself. Good luck.

yeah, until i get tested willingly by a doc, i'll act as if certain drugs aren't good according to the porphyria profile.

i agree that it's probably under diagnosed. both my mom and sister have a history of frequent, severe stomach pain and neuro issues too that is written off by docs as the stomach flu or irritable bowel. not saying they do or don't have porph, it's just easy to understand why if they did it could be missed.

thanks for your all replies, much appreciated.

Niki,
Sorry its taken me so long to write back,i've too be sick and in the hospital.I read moon's reply to you,she is so right , it's extremly important that you educate youself about Porphyria and the harmful the meds . Niki, it's also very important that you learn about the collection of the porphyrin test and the right time to do the test.
Please remember you are your best advocate.

Good Luck
and
God Bless

just a brief update: the 24 hr urine test came out negative, but 2 weeks before i had pink urine before i went into a gi procedure. so, i am happy it came out negative but still wonder if i just wasn't having an acute epsiode or one sample during the 24 hr test that was suspect was diluted by the normal urine.

confused but having to let this go for now. i just tell the anesthesiologist if i have to go for a procedure to avoid meds heavily processed by the liver. having a difficult case of chronic epstein barr has made it weak to process chems. plus i was diagnosed with IBS and ovarian cysts so maybe this was what was causing the acute pain. thanks for your patience. it's all kinda confusing since i've a laundry list of health issues.