Idiopathic Diagnoses and Exposure History

In the scheme of all things neuroscience, I am very new. The science and biology of neurology has been around for a very long time—since at least the 16th century, though there is evidence there may have been inklings into the mysteries of the brain in the 15th century. So I don’t pretend at all to understand anything at any depth or with any insight that has not been weighted by others. And what I know to be true is that others hold intellectual insight that is far beyond my capability. I say this with authenticity and humility. I know my limitations and I know my strengths.

But in my years in the neurosciences, in various forms since my graduation from medical school in 2000, I have learned, seen, researched, treated, and discussed many neurological disorders in both pediatric and adult neurology. I have had the great fortune of being trained in both. Admittedly, I did not see it as a good thing at first, as I was sort of forced to do both to become board-certified since my internship was in family medicine and not pediatric (as needed for pediatric neurology) or internal medicine (as needed for adult neurology). So my residency was longer in duration—and by extension, in stress and harshness. But in the end, I can say I was trained in both.

The perspective of both has been useful. I have recognized late-onset “pediatric” disorders in adults that would not have otherwise been obvious. But I also had a bird’s-eye view of another distinction. Many pediatric disorders have genetic origins. There are classic descriptions of a mutation of a gene that leads to a well-described disorder such as Duchenne Muscular Dystrophy, Leigh Syndrome, Congenital Myasthenic Syndrome, Phenylketonuria, and so many others. And while there are some genetic disorders that may present later in life, the vast majority of adult neurological disorders are not only degenerative, but are “idiopathic”—a Greek word loosely translated to mean a suffering of its own kind. A sort of shoulder shrug by doctors with a sad face due to its known relentless progression or, at least, lack of remission.

Pharmaceuticals for these dreaded diseases seem to come and go and never really offer any chance of a return to a quality of life—a quality that the patient has usually defined at a much lower standard once they were diagnosed. It is also what leads patients to seek alternative kinds of therapies looking for something that will stick and give them a chance at warding off the inevitable demise.

Another seemingly lucky happenstance in my life was my pursuit of a Ph.D. in environmental toxicology (my life story is the stuff memoirs are made of). This course of study and my work with the venerable Environmental Protection Agency forced me to see human health in the context of exposures. Those exposures take the form of anything from contaminants and toxicants in our food, air, water, personal hygiene products, pharmaceuticals (my dissertation), cleaning products, and more.

In my private practice, I tackled chronic and complex disease, especially those of the controversial form such as MECFS, Fibromyalgia, and now long Covid, from an immune provocations perspective as a result of exposures. This did not in any way seem foreign to me as a neurologist because there are many post-infectious neurological syndromes—the most common being Guillain-Barré syndrome as well as ADEM (Acute Demyelinating Encephalomyelitis) commonly seen in children (for which, by the way, we ask not only has there been a recent viral illness but also has there been a recent vaccine). But there are others and, indeed, recent research has found suggestion of viral associations with both Multiple Sclerosis and Myasthenia Gravis as well as Alzheimer’s disease. Even some genetic disorders, such as Dravet Syndrome, are known to be triggered by a viral infection that results in many alterations of human physiology including gene expression.

I believe we give labels to these neurodegenerative disorders but they are indeed post-exposure syndromes. Sometimes the symptoms are not discrete enough or the testing is not objective enough to give it an “acceptable” label such as Amyotrophic Lateral Sclerosis (for which criteria requires Electrodiagnostic findings) or Parkinson’s disease (for which clinical criteria requires certain examination findings) or many of the autoimmune neurological disorders which require an identification of a certain autoantibody. For the latter example, we also hold diagnoses of “seronegative” autoimmune disorders which means we have not found the antibody but the symptoms are too consistent with the particular diagnosis or a different type of testing suggests this diagnosis.

The innate and adaptive immune systems are complex and their interactions with both the central and peripheral nervous systems are just as, if not more than, complex. The resultant effects on our Genoaour mitochondria, and our tissue resilience wane over time and disease results. I hear many talk about “root cause.” But what is the “root cause”? I believe it to be exposures.

When I would discuss my findings of pharmaceutical residues in our waters and what the potential detriments on human health may be, I was often told it was too small amounts. True, we found parts per billion, parts per trillion. But that was not my point. My point is the cumulative effect on our bodies and brains. Even minute amounts of multiple exposures over decades of life—throw in emotional, mental, and physical trauma and a couple of infections into the mix—is our metabolic burden. And how it manifests may lead us to be “labeled” with a disease that has no known cure. In some respects, it is those patients who are “lucky” to get that label as their symptoms fit into a diagnostic bunker but for those patients with vague and seemingly non-localizing symptoms, they don’t get a label and are often dismissed. It is not because physicians don’t care, but what do we do without a clear “diagnosis code” or at least a clear place to start a treatment that would fit into our burden of “standard of care”?

There is a lot we cannot control about our environment but there is a lot we can. And medicine has a lot to offer for aberrant immune activation. We are not an individual organ and we are not an individual exposure. There is important interplay in our systems and salutogenesis highly depends upon what we do not only for ourselves but for each other. And it’s only with salutogenesis can we hope to find physical, metabolic, and cellular resilience again.

This is a condensed excerpt from my forthcoming book.

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