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Idiopathic diagnoses and history of exposure


In the scheme of all 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, although there is evidence that there may have been suspicions about the mysteries of the brain in the 15th century. So I don’t pretend to understand anything at any depth or with any insight that hasn’t been pondered by others. And what I know to be true is that other people hold an intellectual insight that far exceeds my abilities. I say this with authenticity and humility. I know my limits and I know my strengths.

But in my years in neuroscience, in various forms since graduating from medical school in 2000, I have learned, seen, researched, treated, and discussed many neurological disorders in pediatric and adult neurology. I was very lucky to be trained in both. Admittedly, I didn’t see this as a good thing at first, as I was kind of required to do both to become board certified since my residency was in family medicine and not pediatrics (as required for pediatric neurology ) or in internal medicine (as needed for adult neurology). My residency therefore lasted longer and, by extension, under stress and constraint. But in the end, I can say that I was trained in both.

The perspective of both has been helpful. I recognized late-onset “pediatric” disorders in adults that would not have been evident otherwise. But I also had an overview of another distinction. Many pediatric disorders have genetic origins. There are classic descriptions of a gene mutation that leads to a well-described disorder like Duchenne muscular dystrophy, Leigh’s syndrome, congenital myasthenic syndrome, phenylketonuria, and so many others. And while there are genetic disorders that can present later in life, the vast majority of neurological disorders in adults are not just degenerative, but are “idiopathic” – a Greek word loosely translated to mean suffering. in itself. Kind of a sad-faced doctors shrug 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 a chance of regaining a quality of life – a quality that the patient has usually set at a much lower level once diagnosed. It is also what leads patients to seek out types of alternative therapies in search of something that will hold them and give them a chance to stave off inevitable death.

Another seemingly lucky chance in my life was my pursuit of a Ph.D. in environmental toxicology (my life story is the stuff of which memoirs are made). This degree program and my work with the venerable Environmental Protection Agency forced me to see human health in the context of exposures. These exposures take the form of everything from contaminants and toxic substances in our food, air, water, personal hygiene products, pharmaceuticals (my thesis), cleaning products, etc.

In my private practice, I have approached chronic and complex diseases, in particular those of the controversial form such as MECFS, Fibromyalgia, and now for a long time Covid, from the perspective of immune provocations following exposures. This did not seem foreign to me as a neurologist because there are many post-infectious neurological syndromes, the most common of which are Guillain-Barré syndrome as well as ADEM (Acute Demyelinating Encephalomyelitis) frequent in children (including, for the way, we ask not only if there has been a recent viral illness, but also if there has been a recent vaccine). But there are others and, indeed, recent research has found suggestions 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 leads to many alterations in human physiology including gene expression.

I think we give labels to these neurodegenerative disorders, but they are indeed post-exposure syndromes. Sometimes the symptoms are not subtle enough or the test is not objective enough to give it an “acceptable” label such as amyotrophic lateral sclerosis (for which criteria require electrodiagnostic results) or Parkinson’s disease (for which the clinical criteria require certain test results) or many autoimmune neurological disorders which require identification of a certain autoantibody. For this last example, we also hold “seronegative” autoimmune disease diagnoses, which means we have do not found the antibody, but the symptoms are too consistent with the particular diagnosis or a different type of test suggests that diagnosis.

The innate and adaptive immune systems are complex, and their interactions with the central and peripheral nervous systems are equally, if not more, complex. The resulting effects on our genes, mitochondria, and tissue resilience diminish with time and disease outcomes. I hear a lot about “root cause”. But what is the “root cause”? I think it’s the exhibits.

When discussing my findings of pharmaceutical residues in our waters and potential adverse effects on human health, I was often told that these were too small amounts. Certainly, 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—with emotional, mental, and physical trauma and a few infections in the mix—constitute our metabolic burden. And the way it manifests can cause us to be “labeled” with a disease that has no known cure. In some ways, these are the patients who are “lucky” to get this label because their symptoms fit into a diagnostic bunker, but for patients with vague and seemingly unlocalized symptoms, they don’t get a label. label and are often returned. It’s not that doctors don’t care, but what do we do without a clear “diagnosis code” or at least a clear place to start treatment that fits our “standard of care” burden?

There are a lot of things we can’t control about our environment, but there is a lot we can do. And medicine has a lot to offer for aberrant immune activation. We are not an individual body and we are not an individual exhibition. There is an important interaction in our systems and salutogenesis is highly dependent on what we do not only for ourselves but also for each other. And it is only with salutogenesis that we can hope to regain physical, metabolic and cellular resilience.

This is a condensed excerpt from my forthcoming book.