the great how and why.

If it's on your mind and it has to do with multiple sclerosis in any way, post it here.

the great how and why.

Postby tara97 » Mon Jul 25, 2011 2:46 pm

If we are to solve any problems on this earth we must first observe time and space and ask when and where. in this place we see a what which is matter. when matter is observed in time and space one must reason about how this came to be and then finally why this came to be. the answer will be the root cause or causality. not all questions are created equal.

I have been sick with a lot of different illnesses. I asked the doctor why, if I had been taking proper care of myself, had I been plagued this way. He suggested that I had an autoimmune disorder and that my immune system had encountered a protein so similar to my own that my immune system basically became confused and accidentally attacked me. I asked “how is this possible?” at which point that doctor vaguely replied that “they” don’t know. In 2010 how could “they” not know anything? I found out later that the doctor was referring to “the theory of molecular mimicry”. I looked it up and saw the word “controversial” next to it, claiming that it was mathematically improbable. I do not know too much about the mathematical probability of protein similarity and cannot argue for or against this but I did find this explanation to be strangely incomplete. This theory led me to believe that the only things involved were a pathogen, my immune system and the place it attacks. This made the whole process seem so random and accidental and made my immune system seem like a rogue entity with in itself just like my organs that are so autonomous that they require a separate doctor for each. It all seemed counter intuitive to the way the body and the immune system really worked. I believe that my immune system is part of an acid/base tension which is delicately balanced with a hormonal cascade, electrolytes, other minerals, proteins and phosphates and what ever else I am too ill equipped in knowledge to be discussing, all to ensure a pH at 7.45. If my immune system is too large perhaps it is a balance issue. But how and why did I become so gravely imbalanced? Why do others who treat their bodies a lot worse than I, not get imbalanced? Could there be a genetic factor or maybe there is something I am exposing myself to that others are not. How and why is this happening to me?

“Here is my history: I have been diagnosed with mitral valve prolapse, ADD, dyslexia, petite mal déjà seizures at onset of puberty, Guillian barre syndrome, acute transverse myelitis, no reflexes left but proof they diminished in ascending order, a bactrim reaction that caused an adrenal crisis and peripheral paralysis, after 8 years of testing for rheumatology I have only this last year been positive for an antinuclear antibody titer 1:1280 and SSB titer 1:60 indicating an autoimmune disorder. My BP drops only during flair ups to 80s over 40s and my heart rate goes up to 120, 130. I have mild spina bifida, central and foraminal stenosis and degenerative disk in my lumbar and a throracic syrinx and with in the past 5 years have developed kyphosis. Testing has showed a vitamin D deficiency, H pylori infection, gastric ulcers and small intestinal erosion. much of this deterioration has occurred simultaneously.

Hold on and Ill get to my point soon

My sister, father, his sister and his aunt all have schizophrenia and his uncle on that side had MS. My father was intubated for reparatory failure and assumed to have sepsis, when he woke up, extubated, his legs were paralyzed. Both he and his mother have gone into a spontainious coma for short periods and noone knows why. my nephew has been diagnosed with crohns. Both my daughter and my sister have had bells palsy.

Yet because I meet so many criterions, doctors cannot find an ailment that would account for everything that has been going on.

8 years ago when the first bout of paralysis presented it was said to be peripheral not central. One year later, my next bout of neuropathy was not tested or treated. Another year after that, during the 3rd bout an older demyelinating lesion in my spinal cord consistant with MS or transverse myelitis presented indicating that most likely it had occurred during the second bout. The presentation was starting to be consistent with multiple sclerosis but peripheral and central attacks usually do not occur in the same body so I did not receive a diagnosis as a result. No findings presented for the 3rd bout which waxed and waned for 8 months and then spontaneously remised for 5 years. During the 4th bout I came out of remission with a bout of peripheral paralysis and had developed an antinuclear antibody titer where 1:40 would be positive, I had a 1:1280 this violently waxed and waned for about 10 months along with disautonomia. Had this titer presented during the first bout it would have indicated that all of these were the result of lupus but it did not. My ANA titer was negative until the fourth. My presentation has become so unbelievably scrutinized by tests that it lost its integrity as a whole. Doctors said that some people don’t receive a diagnosis. But certainly there must be a reason that this kept occurring not only in me but in others in my family. Does calling it the name Lupus or multiple sclerosis explain why or just what?

At this moment I have none of these problems. Not even a scar left behind from the central nervous lesion. I am in complete remission and my body goes on.

I wonder if the chaos manifests one way in some, a different way in others and in people like me everywhere. Doctors have a specific notion of what porphyria looks like, Stomach pain, possibly followed by a neurological attack and only look for that. Yet when I read the testimonies of the porphyrics and speak to them their most common complaint is that before diagnosis they were hit with numerous presentations, were accused of hysteria or drug seeking and/or no one could figure out what was wrong. Porphyria’s true presentation is a misstep in the biosynthesis of heme caused by a faulty or deficient expression in one of the enzymes which catalyze one of the steps in the assembly line in the heme manufacturing pathway. The unincorporated heme precursors, porphyrins, spill into the body and from there the manifestations have been known to be infinite. It causes imbalances that over time or abruptly can work its way through the clock work movement of the metabolism. Also an attack can occur without the patient feeling a thing if all mechanisms that insure homeostasis are in great supply.

What if diagnostics are a man made abstract concept to describe the parameters of what nature has set into motion but just because we put them in different groups defined by the damage that has been left behind (2 or more scars in the central nervous system separated by time and space = MS) , doesn’t mean they have different causes. what if there were a cue ball or a common baseline behind it all. Perhaps it is our genetic strengths and vulnerabilities that dictate the manifestation of what gets damaged and what holds integral. Perhaps a mechanism put in place caused by a string of system failures and damage creates a rut which ensures chronic illnesses perpetuate while others are too resilient to accrue such damage and so the next attack would randomly cause a different imbalance and therefore different manifestations.

The doctors use a flow chart in there heads to diagnose. 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 diagnostic 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. It has been linked to neuropathy, schizophrenia, ADD, thyroid disease, osteoporosis, diabetes, sepsis, autism spectrum, dermatitis, lesions on the brain encephalitis, hepatocellular carcinoma, pancreatic, colon and stomach cancer, gall bladder problems, acid reflux, manic depression, crohns disease, chronic back pain and autoimmune disease etc etc etc It has a diagnostic differential with MS, sjogrens, and guillian barre syndrome, ALS, lupus, parkinsons the possibilities are endless.

the 8 different porphyrias collectively are thought to be rare having an occurrence of 1:100,000 but it is somewhat accepted that its true prevalence could be as much as 100X that or perhaps even more. In France, they randomly tested the DNA of the HEALTHY population and found just AIP gene (only one of the 8 porphyrias) alone to have a frequency to be as much as 1:1600. It is believed to be latent in most and can be triggered by environmental stresses. We can’t look at this disorder as an equal to others. Could it be a great how and why that many are looking for when they are suffering from a what and a where? It comes autosomal dominant or recessive or even aquired and its metabolic and one cant be more simplistic than genetic predisposition to environmental vulnerability. Nature and nurture personified. 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 affects all races but Caucasians are the most effected. Some mutations are so new that they can be traced to a single individual but there are so many mutations I wonder if any are older than racial evolution. So why are those of European decent so much more effected. Perhaps there are qualities in the porphyric that have allowed this gene to be an attribute for the europeans ability to thrive. (Creative intelligence which correlates with insanity, obsessive behavior and overactive immune systems) I propose perhaps that ethnocentricity, nationalism, language barriers, geographical isolation and industrialization and a strong push of pharmaceuticals may have played a role and what about a strong push of antibiotics, pesticides, industrial pollutants. I ask what if in our vast population, we are experiencing inbreeding depression and through that flaw and as our environment become more hostile our latent enzyme shortage is overwelmed. 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 mostly DOMINANT disorder first mutate?

An example of what might happen if porphyria is introduced into an isolated population is “porphyria variegate”. It is a mutation more specifically associated with the Afrikaner population and among them it has an occurrence of 1:300.

Perhaps it is only rare that one does not get diagnosed with something else first. What if those who manifest with the text book presentation of porphyria are too resilient to attain damage at which point they will slip through the cracks of diagnostics and doctors finally yielding to the last possibility, test for porphyria. Perhaps what is really peculiar about these individuals is their resilience attributable to a longevity factor.

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. If we flip that flow chart upside down and put the bottom illness on top and test for it first, I ask what would exist below it? Doctors have a tendency to blame incidental findings on the largest disease present but….


Perhaps it is not the great HOW and WHY but the patterns of dominant inheritance leave me to think that this could not possibly be as rare as the 1:100,000 the US medical community is recognizing it to be so my final question is

Why is this being overlooked
User avatar
Family Elder
Posts: 161
Joined: Sun May 24, 2009 3:00 pm
Location: Henderson


Return to General Discussion


  • Related topics
    Last post

Who is online

Users browsing this forum: No registered users

Contact us | Terms of Service