It Ain’t That Simple: Autism

I constantly tell my patients that if their illness were so simple to have one simple “cause” then someone else would have already “fixed” it for them. We have all grown up in a world of medicine where the one-cause-one-disease model has prevailed leading us to all stumble when real life and its illnesses are not that simple.

Today’s article offers no impressive impact in functional medicine on its own merit. Rather, it contains a stubborn fact for many diseases. Researchers searching for the answers to Charcot-Marie-Tooth disease, a disabling neurodegenerative disorder, have struggled to understand it thanks to the already 90 different genes discovered to influence its development. That’s right, 90 different genes may contribute to the development of one disease.

“So what?”, you may ask. My point is this… Charcot-Marie-Tooth not only has a long name, but a long list of paths to its development. Why do we get so caught up in thinking that other diseases are any less complex? Take for example Autism or Chronic Fatigue or Fibromyalgia. Each of these are less of a disease and more of a syndrome or pattern. I have heard it said that if you see one patient with Autism, you have seen one patient with Autism. That is true in two senses. First, a Functional MD who practices personalized medicine always treats the unique patient before them as a unique case. We apply principles and known patterns, but each patient is a one of a kind “portrait”. Second, enigmatic diseases like Autism or fibromyalgia are not monolithic by any stretch of our imagination. These diseases remain “fuzzy” to our insight due to the fact many, many “causes” underlie the tip of their iceberg that we see. Underneath the water line, each individual patient presents a unique set of interdependent pathways which produced the symptoms.

While keeping this multi-causal perspective in mind, we must always look for converging pathways to explain such tip of the iceberg diseases. Sometimes, the multiplicity of genes involved in a disease are simply different steps or influences in a single pathway. We are uncovering, on a daily basis, for example, how inflammation underlies a variety of diseases from cancer to depression to heart disease. In these discoveries, we are learning that diverse triggers from metals to infections to genetic anti-inflammatory pathways to nutritional deficiencies all contribute to such diseases. Much of the time in such cases, no single factor deserves credit for the starring role. Instead their teamwork lifts the iceberg above the water line.

Continuing this philosophical dive into how functional MD’s approach medicine, next consider how a multiple cause view of disease should guide both research and therapy. If a disease can have a multitude of contributing, interdependent causes, why would we not want to respond with a multimodal therapy directed by research which acknowledges multiple causes.

By its nature, research attempts to tease out single factors called variables to test hypotheses that the chosen variable influences a measure outcome. For example, will medication “A” cause disease “B” to go away when given to a patient? What if we began differently, more in line with research into how we influence disease pathway “C” at points “D”, “E”, “F”, and “G” with therapies “H”, “I”, “J”, and “K”? We need to incorporate the first single variable research into a bigger picture if we are going to succeed in treating patients with multiple disease causes.
At Sanctuary, as we work towards treating syndromes like Autism, chronic fatigue, and fibromyalgia, we look for dysfunctions in the common pathways. We look for sources of inflammation within (infections, poor nutrition) and without (organic toxins, mold toxins, metal toxins). We look for genetic predispositions that hinder metabolism, that hinder repair processes, that prevent adequate self-detox, and more. We consider nutritional effects in which inadequate nutrients may prevent normal function. We consider how these all work together to prevent our patients from living a healthier more abundant life. With that starting point, we take the single variable research studies we have and target as many pathways as possible.

We wrap around this a view of our patients as whole beings, body and spirit, caring for each aspect sometimes simultaneously, sometimes alternating from one to another. That is how we aim at restoring our patients to whole person health.

Original Article:
Sven Bervoets, Na Wei, Maria-Luise Erfurth, Shazie Yusein-Myashkova, Biljana Ermanoska, Ligia Mateiu, Bob Asselbergh, David Blocquel, Priyanka Kakad, Tyrone Penserga, Florian P Thomas, Velina Guergueltcheva, Ivailo Tournev, Tanja Godenschwege, Albena Jordanova, Xiang-Lei Yang. Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy. Nature Communications, 2019; 10 (1) DOI: 10.1038/s41467-019-12909-9

Thanks to Science Daily:
VIB (the Flanders Institute for Biotechnology). “New mechanism of neurodegeneration.” ScienceDaily. ScienceDaily, 21 November 2019. <>.

Further Reading:
Cockerham, William C et al. “The Social Determinants of Chronic Disease.” American journal of preventive medicine vol. 52,1S1 (2017): S5-S12. doi:10.1016/j.amepre.2016.09.010
Amaral, David G. “Examining the Causes of Autism.” Cerebrum : the Dana forum on brain science vol. 2017 cer-01-17. 1 Jan. 2017
Szatmari, Peter. “The causes of autism spectrum disorders.” BMJ (Clinical research ed.) vol. 326,7382 (2003): 173-4. doi:10.1136/bmj.326.7382.173
Emberti Gialloreti, Leonardo, and Paolo Curatolo. “Autism Spectrum Disorder: Why Do We Know So Little?.” Frontiers in neurology vol. 9 670. 17 Aug. 2018, doi:10.3389/fneur.2018.00670
Chaste, Pauline, and Marion Leboyer. “Autism risk factors: genes, environment, and gene-environment interactions.” Dialogues in clinical neuroscience vol. 14,3 (2012): 281-92.

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