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    Default the great how and why to our what and wheres

    here is my history I have had petite mal dejavu siezures at onset of puberty, GBS like, demyelinating central nervous lesion, no reflexes left but proof they diminished in ascending order, a bactrim reaction that put me in the hospital with motor neuropathy, after 8 years of testing for rheumatology I am only now getting a sjogrens titer that goes possitive then negative and then back to possitive and the rheumatologists says no way this little titer caused all this damage. My BP drops only during flar ups to 80s over 40s.
    My sister, father, his sister and his aunt all have scizophrenia and his uncle on that side had MS.

    I am a drug reacting, period aggrovated, sun sensative, alchohol intolerant caucasian women with peripheral, central and rheumatological involvment.

    I wonder if the chaos manifests one way in some, another in others and in people like me everywhere. doctors have a specific idea of what porphyria looks like but why would an ancient gene mutation (dominant) follow rules that present only one way. genes mutate
    I think diagnostics are a man made abstract concept to describe and group diseases but just because we put them in different groups defined by their damage ie peripheral=cidp, central=MS, all over=hysteria or porphyria depending on the doctor, doesnt mean they have different causes. doctors used a flow chart in there heads to diagnose starting with damage first and then work there way toward a cause but never really quite make it. what if we flipped the flow chart up side down and put the last illness on top. It would be the one with the most symptoms and manifestations because the less symptoms you have, the more you fit into a specific dianostic criteria and once you meet a certain diagnostic criteria you cease to go down further on the flow chart. I propose that in all my internet meanderings I have never seen an illness, more inclusive than porphyria. like I said before, you cannot get more simplictic than an ancient genetic predisposition to environmental intolerance


    Exuse me if this seems rudimentary but I am a layman and I am trying to call it as I see it as a layman. Perhaps I am thinking too simplistically. At the very least I propose that this is a really good scifi premise.
    Porphyria is thought to be rare having an occurrence of 1:100,000 but it is widely accepted that its true prevalence could be as much as 100X that. In France, they randomly tested the DNA of the HEALTHY population and found just the AIP strain to have a frequency to be as much as 1:1600.
    http://www.ncbi.nlm.nih.gov/pubmed/9350165
    It is believed to be latent in most and can be activated by environmental stresses. It has been linked to neuropathy, schizophrenia, ADD, thyroid disease, osteoporosis and autoimmune disease etc. We can’t look at this disease as an equal to others. It is the great how and why that many are looking for when they are suffering from a what and a where. It is autosomal dominant and metabolic and one cant be more simplistic than genetic predisposition to environmental vulnerability. If porphyria is the mom than environmental stresses are dad and its children manifest in infinite ways and we are becoming xenobiotic monstrosities.
    One must have to consider who is affected to truly appreciate the levity of this disorder. It effects all races but Caucasians are the most effected. In other words the original mutation has to be older than time in order for this to occur. Older than racial evolution, long before agricultural revolution. So why are those of European decent so much more effected. I propose that ethnocentricity, nationalism and industrialization may have played a role and perhaps an elevated susceptibility to UV and nowadays more exposure. I ask what if in our vast population, we are experiencing inbreeding depression and through that flaw and as are environment becomes more hostile out latent genes are awakened. How many degrees of separation do we have from one another? How many times have our genetics cris crossed over the 250,000 years of modern human history? How far back did this DOMINANT disorder first mutate?
    If Schizophrenia and MS were to have an epidemiological correlation related to geography. Both occuring in the northern hemisphere at a latitude of 40 and above and its is believed that deer ticks may play a role. I ask what else has occurred along that line? One answer could be industrialization or European colonization.
    If creative intelligence is correlated more with insanity than conventional intelligence then I ask why has ingenuity been a continuous attribute of those of European decent. It is through psychosis that epiphanies occur and inventions are made.
    Then I ask open ended questions like
    What is fibromyalgia really?
    what would happen to a pophyric if they came across the epstein barre?
    what about H-pylori?
    do different catylists correlate with types of manifestations?
    How come MSers have b12 deficiency, liver problems, abdominal pain called ms hug?
    Why do people with lupus tend to have “fibromyalgia” first?
    Why does a study of fibromyalgia patients find that they generally are weaker than rheumatology patients who don’t suffer from neuropathy?
    Why do people with lupus have neuropathy or psychosis?
    How many forms of inherited schizophrenia are there?
    Why is Chinese paralytic syndrome occurring now?
    Do some of these diseases sound a little redundant next to porphyria?
    Is sjogrens syndrome really a differential of MS or is it just MS with an ANA and SSB thrown on top?
    What is POEMS?
    What is eosinophilia myalgia?
    Could ccsvi be the result of the dilation and contriction of veins that occurs in autonomic neuropathy.
    If a tree falls in the forest and no one is around does it still make a sound or if we are not looking for the cause but rather the damage that has been left behind how would we even know the sound that genetics are making.
    doctors go through there diagnostic flow chart starting from the bottom, the damage. At the opposite end is porphyria, only looked at when other criteria have not been met or like me, too much criteria.

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    Well, that is a lot of information to muse, especially the genetic questioning. I think that your premise of turning the flow chart upside down is quite interesting and might be applicable to many of the other diseases that you questioned. I have some questions about the concept of racial evolution and ethnicity of prophyria; but would need to do a bit more research before I could competently pose that question.
    Otherwise, what you present are some very interesting ideas and thought provoking questions.

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    interesting that it might suggest something really bad for the evolution of the european population and all of us. check out chromosome 9 it is where the porphyrias take place and also metabolic and blood typing along with familial als. hmm thats a good point though why african american women are so hard hit by lupus. I guess one question to ask is are all women of african decent in general hit harder or is this just an american thing. what are some of the environmental factors that african american women endure that make them so much more suseptable? are those who get it of pure african lineage? you brought up a good point I will have to look into this one.
    Last edited by ricketyrose; 02-02-2010 at 08:42 PM.

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