Porphyria Support Group

The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). The hepatic porphyrias primarily affect the nervous system, resulting in abdominal pain, vomiting, acute neuropathy, seizures, and mental disturbances, including hallucinations, depression, anxiety, and paranoia.

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  • Hi, my name is Kelsey. I am 17 and I was recently diagnosed with AIP. The past 4 years of my life have been complete hell. I have been struggling with horrible stomach aches and all over body pain. I feel like my heart is beating really fast and I have horrible constipation, sometimes I don't have a bowel movement for over 2 weeks. I have really bad numbness and tingling in my hands and feet. My...
  • Hi, My name is Gabrielle Godbille. I am an intern with Rare Genomics Institute and RareShare this summer. We are helping research information on rare disease and I am looking to interview people about different diseases to help patients with these diseases.I am working on acute intermittent porphyria. I was wondering if anyone would be open to do a phone or email interview.The interview should...
  • Currently my scariest symptom is SVT, Supraventricular Tachycardia. It has actually been caught on ECG several times, they inject you with adenosine to reset your normal rhythm. I only go to A&E if it has gone on for a very, very long time, and the last one was a few days ago lasting five hours and I didn't bother going, for many practical reasons but mainly because as the doctor said, this is...
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    Symptoms

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    Hi Everyone, I have been suffering horribly from gastric distress, and neuropathy and I have every gastric test known to man and they can't find anything. I just recently went to a hematologist and he only tested for B12 and some other things, I am not sure if he tested for porphyins. My neuropathy symptoms(tingling, numbness, tremors in left hand and right leg) have been associated with b12...
  • Does the accumulation of Porphobilinogen happen only during attack or throughout life as it is to do with the genetic deficiency of the porphobilinogen deaminase. I have a hypothesis that the Behavioural/neurological/physiatric Disorders in known cases is a lifelong phenomenon rather than during an attack.Can anyone throw more light on this from their own personal experiences or research or...
  • i had a question about being diagnosed with porphyria.my llmd said he thinks i have it but i need to see a specailist to be diagnosed. So mom called the porphyria foundation and got the closest dr (which is hours away) I am sure you all know porphyria specailists are very rarer.so the specailist said people are usually diagnosed by the time they get to them. my dr will probaly order the tests...
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    confused

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    My dad had Porphyria and Addison's Disease. Both I know are rare. From what I can gather he passed away from the affects of the Porphyria. I've never asked my step-mom questions regarding his illnesses because for one I never thought to and secondly now I am afraid to bring him up and upset her.I understand from reading some of your posts that Porphyria is hereditary. Would someone be kind...
  • My 13 year old son has porphyria, epilepsy, fatty acid disorder, and now we were told he had aspergers by multiple medical professionals. Does anybody understand this all?
  • I am a 26 year old female and I have been having unexplained symptoms since my late teenage years. About 17 years old I had an episode of neurological problems which included tachycardia, blood pressure that would get too high or two low, fainting, and an episode of acute abdominal pain along with vomiting, which took me to the ER. These symptoms continued for a month or two and resolved on their...
  • Hi guys. Porphyria? Don't know about it? Have red spots all over body, UTI & incontinence I've been dealing w/ for about one year, body paralysis, numb legs. Hands & feet - bad dexterity, plus cold! Platelet count always low! Now I have continuous low blood sugar, even when I eat? Doctors r running complete blood tests on me now. Last year was DX'd w/ chronic Lyme. But they thought I had M.S. &...
  • Hi- I hope someone can give me some guidance...I have recently been diagnosed with Lyme disease after 15 years of undiagnosed seemingly random illnesses. It started when I was about 11 with SEVERE leg pain. When I was about 14 I developed headaches and dizziness. When I was 17 or 18 I developed GI problems which include nausea, diarrhea and abdominal pain, ranging from discomfort to severe severe...
  • Hello :3I may possibly have an acute porphyria. I ran a sunlight test with a negative control (friend's urine sample), mine seems to be positive. I wondered if anyone who has been Dx'd could take a look and see if it looks similar to what you've seen if and when you tried the sunlight test. Looks like a thing?Friend's sample Fridge sample/sun...
  • deleted_user

    Advice please

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    Hello I am new to this group & truthfully I am not even sure this is the right group for me as I have not yet been diagnosed. About 4 years ago after receiving a flu shot I became very sick for 2 weeks straight. Soon after feeling a bit better & finally being able to get out of bed I began feeling very strange symptoms. After 3 so called attacks my Dr became very concerned it was MS. However...
  • Check out this book I stumbled upon written by a woman living with Porphyria. Absolutely amazing book. http://www.amazon.com/Beauty-Tips-Bereaved-ebook/dp/B00DSTV0LS
  • Does the light test where you take a urine sample and put it outside in the light ever give a false positive?Can the urine turning brown be indicative of another disease?I had two urine samples from my son. I put them into glass cups and covered them with suran wrap. One was from the night before and one was from the afternoon (he said he hadn't peed all morning). They both where very yellow,...