Discussions By Condition: Rare Disases

Acute intermittent porphyria

Posted In: Rare Disases 7 Replies
  • Posted By: teecee
  • November 17, 2006
  • 08:11 AM

Hi, Just wondering if anyone out there has this disease? After 6 years of testing for gastrointestinal problems,multiple emergency room visits, and various other tests. I finally had a doctor to recommend being tested for Acute Intermittent Prophyria.I did research on the internet and was amazed, I find that I suffer from every symptom of this rare disease.My mother passed away a few years ago when the portal vein in her liver collapsed. My Grandfather, her father had Lupus and I also have a cousin who has suffered for years from the same symptoms that I have and his doctors are baffled and so far have been unable to diagnose his condition. I just got the results from two 24 hour urine test done during two seperate attacks that landed me in the emergency room.The results came back negative on both.My question is how hard is this disease to diagnose? I have read that it is not uncommon for this tests to be misinterpeted by doctors that are not familiar with this disease. The doctor that did the last test (a hemotologist) has never treated anyone that has had this so I assume he is not familiar with it. I would like to know if anyone thats been diagnosed with AIP has had similar problems with testing. Any information would be appreciated.

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7 Replies:

  • I am a 43 year old mother of 7 that resides now in Riverdale md. I was diagnosed in 1990 with aip. Since then I have done a lot of motivational speeches and conseling to others. I have 4 degrees and work at several things when not sick. I am an attorney that specializes in immigration matters, but have done everything in between from abuse,divorce/custody,and have even married a few. I am also a retired EMT, a barber and a baker. So I try to keep as busy as I can when I am not sick so that I can help others as a thanks to god for keeping me around this long,when I was told by 5 doctors in 1990 {when diagnosed }-that I had at the most 5 years to live. I have not only aip but have been stabbed,2 children kidnapped, in coma 3 times, 2 heartattacks, etc. So if your looking for a friend that understands or has probably been through it ,send me an email to veeagonzalez@yahoo.com. I would also like to be contacted by any aspiring, published, writers that may be interested in writing my story. Have a blessed day............
    vee gonzalez 1 Replies
    • November 29, 2006
    • 05:24 PM
    • 0
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  • I am also being tested for aip..you will find a wealth of knowledge at porph@yahoogroups.com It is extremely difficult to get a true positive result.All the best!!!
    Anonymous 42789 Replies
    • January 13, 2007
    • 08:34 AM
    • 0
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  • Thank's for writing. You are so right about Yahoo's Porph group...they are a wealth of information. I joined a few months ago and highly reccomend that anyone suffering from any type Porphyria to do the same. I makes you realize you are not suffering alone.
    teecee 1 Replies
    • January 14, 2007
    • 04:13 AM
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  • Hello.Diagnosis of porphyria, based on porphyrins in the urine, is 100% positive only during attacks of porphyria. Otherwise in the period between attacks testing for urine porphyrins is negative in the majority of patients. Thefore, normal urine porphyrins can not rule out porphyria in your case.For definite diagnosis genetic analysis or determination of appropriate enzyme in seurm may be of help.medicald@hushmail.com
    Anonymous 42789 Replies Flag this Response
  • I have aip but am lucky enough to have a mild case. i have mild attacks every so often with severe abdominal pain if i drink even a sip of alcohol but luckily i have never had to be hospitalized. My mother and brother however are very different. my mother was finally diagnosed by a doctor, after having many severe attacks, in her thirties by a doctor who had actually heard of the diease. unfortunately he did not tell her that she had it and so when her attacks started again he reaped a profit through her continual office visits. luckily he told her about it as she was leaving his care when we moved one time and she was able to learn about it and for the next ten years she only got occasional attacks when she was given a medicine that interacted. blood tests are the only real way to go for getting tested though so talk to you doctors.
    Anonymous 42789 Replies Flag this Response
  • I was diagnosed with AIP in October of 2008. After seeing a handful of doctors I finally saw a hematologist who was will to actually treat me. I have had one dose of panhematin and we are starting a schedule of a once-a-month infusion to try to treat my almost constant symptoms. We will see how that goes and then adjust the schedule from there. I have a strong family history of porphyria. My mother was diagonosed in 1995, my grandmother died of complications with aip when she was only 28 in the early 60's, I also had a great uncle who died of this diesease and a great aunt who is living with it today.
    Anonymous 42789 Replies
    • February 22, 2009
    • 01:46 AM
    • 0
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  • Huh?.. porphyria? This is a very disturbing illness to have even though it is only "acute porphyria". What I know about this illness is that it is inherited or acquired. Is ther nay cure for this?
    farid sarah 3 Replies Flag this Response
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