Signs that a “Genetic Disorder” is Neither “Genetic” Nor a “Disorder”

There are a few serious disconnects between the science of genetics and the application of that science to medicine, and it’s putting millions of people at risk of exposure to unnecessary medical interventions, includng life-long exposure to psychotropic medicines. These exposures are starting at an increasingly young age.

First, I will outline the signs that a “genetic disorder” is not genetic:

(1) The variation in the human genome involves “common variants”. Common genetic variation, whether it be in the form SNPs, or mitochondrial variation, non-synonmous substitutions or, or insertion/deletions, are ancient, pre-dating not only the development of psychiatry, but pre-dating the development of Western Medicine – and Western Civilization itself.  These genetic variants nearly all pre-date the invention of the airplane, cars, houses, roads.

Examples include common variations in the MTHFR gene, and the 12 SNP loci identified in a study of ADHD that reports the “first” evidence of genetic variation linked to that condition.

While the traits associated with the “disorder” are “heritable”, that is only because those traits are heritable in the human population.  It is important to note that it is the specific genetic variation that is associated with the “condition” that is ancient – not just the highly conserved functionally important parts of the genome, and some coverage of that study has confused these two entitities.

(2) No grandparents have the condition – and many parents of people with the condition do not have it. 

Autism is found in a startling 1 in 56 Americans – with rates as high as 1 in 25 boys.  These childrens’ grandparents certainly do not have the tell-tale signs of not talking, hand-flapping, toe-walking, lack of eye-contact, and difficulty in navigating socially.  In the 1980’s and 1990’s, parents of the newly diagnosed children not only never heard of “autism” – many did not even ever hear of any child with the same set of symptoms that their children were exhibited.  Most autism-related genetic variation also involves common variation, although much of the variation is de novo – i.e., unique to the child – representing mutations, perhaps from environmental toxins that the parents – or, in the cases of mothers’ DNA  – the grandmother – was exposed to.

(3) The genetic variation explains too little of the traits in question. 

A “genetic” trait – such as eye color, even when influenced by multiple loci, show very specific reproducibility from generation to generation in the occurence of the traits they encode.  This high-fidelity transmission can occur in discrete traits that occur in categories, or in traits that are continuous traits with variations on a theme, within narrow bounds.  At the population level, eye color is determined by numerous loci – giving variations within categories, but the inheritance is very clearly discrete.

Heritability studies in autism only explain around 50% of the inteheritance of the phenotypes (traits) that lead to autism.  This estimate is done at the population level, not at the individual level – a parent of a child with autism is not 50% autistic.  The 12 new loci discovered in ADHD only explain 74% of the trait – meaning that environmental have a large influence in determines if occurrence of the traits occurs in an individual or not.  In autism, the largest studies point to a lot of room for environmental factors.  The right types of studies that look at both genetics and environmental exposures in the same individuals have not been conducted in ASD nor in ADHD. If they did, we would know the significance of the interaction term between environmental exposures and genetics.

So there are times when a “genetic” condition cannot be labeled “genetic”. Here are some reasons why a “genetic condition” migth not even be the right “condition” to be concerned with.

Source       %G        %E      %missing 

Hallmayer  38(h2)  58        4

Sandin        46         54        0

Colvert       56         30        8

Table from “The Environmental and Genetic Causes of Autism” reviewing %Genetic, %Environment(%E) and %Unexplained (missing) from genetic studies of autism.

(1) The “condition” itself is a sequala of one or more true underlying condition.

If a person has no problem with specific environmental exposure, but then develops a condition as a result of another condition, they may be confused with having a condition they would not otherwise have.  This is a type of co-morbidity, and if the symptoms of the actual underlying, sometimes hidden condition are lessened, the indirect resulting condition may become alleviated. An example is encephalopathy leading to autism involving the exposure of the brain to toxins from food and gut bacteria due to conditions with lesions in the intestine.  The intestinal epithelium layer in the largest surface area by which we interact with our environment.  Dignoses of ASD can result with neither the parents – nor the doctors – aware that the issue is chronic exposures to toxins leading to brain inflammation.

(2) The risk of the outcome of an environmental exposure is heritable, not the condition, and the severity of the condition is driven by environment.

If a condition comes and goes with changes to exposures to specific environmental triggers, the sensitivity is the primary condition, not the symptoms.  Food allergies that lead to altered mental states, or to simple rashes resulting from food or chemical exposures.  These sensitivities are often not genetic – the parents may or may not have certain similar sensitivities – and they often involve immunological responses with a component of autoimmunity.  Another example would be seasonable allergies and asthma. Remove the trigger, the sensitivity remains, but the root cause is an autoimmunological response made possible by prior exposure to allantigens in the presence of a substance that over-activated the immune system, such as aluminum hydroxide in vaccines.

(3) The”genetic condition” can be modified by changes in diet, restrictions to food triggers, removal of toxins, or other seemingly unrelated improvements.

Studies have now shown long-term benefits from correcting the gut microbiota in autism, leading to a 50% reduction in the severity of ASD symptoms via fecal matter transfer.   Not only are the improvements apparently permanent, they also appear to help every child.  As the moms have been saying for years: Heal the Gut, Heal the Mind.

The risk of psychosis from ADHD psychotropic medicines is estimated to be 1 in 660. In my book, “Cures vs. Profits”, I have a chapter on ADHD entitled “Overdiagnosis of ADHD: It’s their mind, not yours” and also a chapter on FMT.  Clearly the improvements made by FMT are historic, and every parent of a child with ASD would do well to read as much you can about FMT.  I’ll end this article with a list of links to articles on the ASD studies as a start toward what will hopefully be a better future for kids with ASD and their families.

I wonder if FMT might have permanent benefit for ADHD as well?

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