A possibility??????

Discussion in 'General Parenting' started by Lothlorien, Apr 11, 2007.

  1. Lothlorien

    Lothlorien Active Member Staff Member

    I met with our psychiatrist again today. After titrating Missy up a bit on the Trileptal last week, Missy had a rage today. It only lasted about 20 minutes or so, but she cracked her bedroom door and apparently barracaded herself in. I only found that out after she came down, somewhat calmer and I went to check on the damages. A few other minor things broken, too.

    Called psychiatrist and got in today.

    I told her that my Aunt has Acute Porphyria. She seemed shocked. It's a rare disease. My aunt has bouts of it every few months and sees an endocrinologist (I think) who wants to follow my aunt, because its pretty rare. (or rather, rarely diagnosis'd)

    Anyhooo, she wants Missy tested for it. She doubts that is the case, but wants to rule it out anyway, because Acute Porphyria can present itself as psychiatric disorders. It's also related to seizures, somehow, but I'm not exactly sure how. My aunt also had seizures as a child.

    Some simple blood and urine anaylisis can rule this out. So I'm just putting this out there for you all to think about. There is no cure, but dietary restrictions is a must. My Aunt's case was diagnosed because she had severe reactions (doubling over pain) from even just a sip of alcohol, however, she had problems with her stomach for years. My dad said she was always labled "a sickly child" when she was young.
     
  2. SomewhereOutThere

    SomewhereOutThere Well-Known Member

    Hey, it's worthwhile to rule everything out!!! I applaud you for doing all you can!
     
  3. Hound dog

    Hound dog Nana's are Beautiful

    I'd have her tested. Doesn't hurt.

    Do you have a link or the symptoms? I'd like to know more about this.

    N is going in for the thyroid testing. We have alot of metabolic disorders in our family. This one I've never heard of before. If nothing else, maybe I can find a reason to write a paper on it at school and make some future health care workers aware of it's existance.
     
  4. tiredmommy

    tiredmommy Site Moderator

    Loth,
    If nothing else, your psychiatrist seems willing to listen to you.
     
  5. Lothlorien

    Lothlorien Active Member Staff Member

    This doesn't say anything about the seizures or the psychiatric part of it, but I was just reading this. I had read somewhere a long time ago about the seizures, when Missy was diagnosed as having Complex Partial Seizure Disorder. One of the links that I looked up then listed Acute Intermittent Porphyria as a type of aura related to seizure disorders. I was weirded out and called my aunt to ask if she had known this and she did. I was kind of PO'd that she hadn't offered up that info when Missy was diagnosis'd.

    It is definitely genetic. They advise that all the relatives be tested for it.
     
  6. Alisonlg

    Alisonlg New Member

    Interesting. Definately worth having your difficult child checked, especially if it's that simple of a test!
     
  7. Lothlorien

    Lothlorien Active Member Staff Member

    too funny TM!
     
  8. Lothlorien

    Lothlorien Active Member Staff Member

    Just found this on another site
     
  9. tiredmommy

    tiredmommy Site Moderator

  10. Hound dog

    Hound dog Nana's are Beautiful

    Thanks for the link. I've bookmarked it.

    Gee, you learn something new all of the time.

    I'm going to print it out for my biology professor. He was good about letting us know about rare disorders associated with body systems. He can use it in his biology and Anatomy and Physiology classes. He keeps a huge binder full of this sort of thing.

    Makes you wonder how many people out there have this and don't know it.
     
  11. Lothlorien

    Lothlorien Active Member Staff Member

    Thanks TM, I wish there was a little more info on this. I wonder if this is my Bio-mom's problem, since her sister has it and she's been diagnosis'd with Schizophrenia.

    Daisylover, I think your professor could do a case study on my entire family. My bio-mom's family are a bunch of sociopaths. If you only knew.....I could go on and on and on. Fortunately, my mom's sister, her family and I are the exceptions. Although she has her diagnoses, she's been able to lead a fairly healthy stable life. The rest of the lot are just a mess!
     
  12. smallworld

    smallworld Moderator

    Loth, just wanted to point out that any benefit from an increase in a mood stabilizer like Trileptal may not be seen within the first week. You may very well need to wait longer to judge the effectiveness of the Trileptal increase.

    Good luck with the testing.
     
  13. DammitJanet

    DammitJanet Well-Known Member Staff Member

    How interesting to see this illness or disorder mentioned here when it is being talked about on another board I go to...lol. I am going to copy and paste some information that is being posted there for your information.

    Many of us with the acute hepatic porphyrias called Variegate Porphyria and Hereditary Coproporphyria don't have red/purple urine. We may have fluorescent green, yellow or orange urine during an attack. I was kept from getting a diagnosis for years because I believed that myth and dismissed the possibility of having porphyria because my urine never turned in the sunlight.

    We have genetically inherited porphyria in my family with sun and chemical sensitivities. In my youth the attacks were typified by abdominal pain after eating certain foods or being exposed to chemicals or most medications, or flu-like symptoms if I was exposed to sunlight. I only get a red, lacy-like rash from sun exposure but my mother and others in my family actually get purple freckles and blisters.

    I was diagnosed with MCS in the 80s, but that still didn't explain the severe abdominal pain and MS-type symptoms. I was checked for lyme, MS, and other neurological conditions but they were all negative.

    It wasn't until I started studying our family's genealogy and contacted my grandfather's "first" family that I found aunts, cousins and many extended family members with the same symptoms. An aunt that I never knew died from cirrhosis of unknown causes (and had never drunk alcohol).

    We cannot tolerate alcohol, foods high in sulfur (broccoli, cabbage, garlic, onions, etc), environmental chemicals like paint, solvents, car exhaust, etc. and hundreds of medications. Most of us do have fibromyalgia symptoms.

    It is VERY difficult to get a confirmed diagnosis. It's a long story, but the politics in the US are such that a person has to have ridiculously high levels of porphyrins in urine/blood/feces (depending on the type) to be diagnosed. The standards in Europe are very different and now that DNA testing is becoming more widely available it is obvious that it is much more common than originally thought.

    The other problem with diagnosis is getting samples that aren't degraded by improper handling and exposure to sunlight. You also need to be having a severe enough attack for porphyrins to be elevated.

    The Canadian Porphyria Foundation has a lot of good information that you won't find in the American counterpart. Many people report sensitivity to fluorescent lights, x-rays and of course chemicals. (Some of the porphyrias don't seem to be affected by chemicals in the environment.) The Canadian organization also has a drug list (of medications that can trigger attacks).
     
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