Genetics

"One Size Fits None"

My recent post about the measles situation in this country has created a flurry of responses from patients and other interested people.  Most responses were positive and demonstrated that parents want to know what is going on.  Some were very negative, associating what was written as an anti-vaccine position.  To be clear, the purpose of the post was to bring to the forefront the lack of understanding of the facts regarding live measles infections, the efficacy of the measles vaccine and the mode with which the media presents information to the public.  I never stated that the measles vaccine causes autism.  I have read all the studies - some of which refute any connection along with other reports that implicate that the vaccine schedule, as it currently exists, as a possible trigger for autism spectrum disorders. 

In order to properly understand the underlying etiology of autism, it is important to understand what autism actually is.  The notion of claiming a genetic cause for this disorder that is increasing annually around the world is unfounded.  There is no such thing as a genetic epidemic and autism, like it or not, is an epidemic affecting more children every year.  To actually say to parents that it's too bad that their child is autistic and that they just have to live with it is hurtful.  Rather, autism appears to be Autoimmune Encephalitis (AE). 

AE is a serious medical condition in which the immune system attacks the brain impairing function. It can present itself in many ways and at different times during the neurodevelopment of a young child.  In many ways, autism is triggered by the same factors that can trigger other autoimmune disorders. Physicians like myself who are dedicated to figuring out the underlying causes, while being labeled as "alternative practitioners" or "quacks" are actually employing the skills first learned in medical school - the skills that aid in differential diagnoses.  Scientific investigation over the past 20 years point to disturbances in mitochondrial function which affects the ability of enzymes to function in metabolic pathways that dictate the body's ability to reproduce genetic material, create cellular energy for the mitochondria to work properly, control cell death and to manufacture antioxidants to deal with the stressors that the cells are facing. 

The consulted physician has to be a good detective, seeking the clues to prove the cause for the multisystem problems, which lead to disturbances in the neurochemistry of the individual patient.  It is important to find a doctor who is knowledgeable, who will listen to the parent's story and who will examine the child looking for these clinical clues.  This is almost impossible during the usual 6 - 10 minute visit allowed by managed care.

There are only a few factors that usually create a disease process in humans, including:

  • Genetics:  Yes, there are children on the spectrum who have chromosomal aberrations. 
     
  • "Epigenetic" Causes:  These affect the genetic program by exerting outside influences on the body's genetic programming.  This is analogous to the virus that can interfere with your computer software while the hardware can function just fine. Epigenetics include environmental triggers, infections or stealth in nature, food and nutritional factors, toxins and drugs. Many of the problems start in utero during fetal development, which is why prenatal history and the medical history of the mother, coupled with family history of autoimmune disease are so important. If a patient is not evaluated for the presence of any or all of these triggers, then the likelihood of recovery is reduced. 


This is what I do daily in my practice.  Treatment is not arbitrary, but specific to the individual and based on extensive history along with complete physical and laboratory testing.  Only then can we begin to solve this mystery.  If the mitochondrial function is dysfunctional and there is evidence of immune deficiency, then the risk of vaccinating these individuals appears to increase.  Thus, vaccination and potential reaction is only a piece of this puzzle.  Without finding all the pieces and putting them together, it is extremely difficult to help the patient. 

Be open minded, parents.  You have to seek out the correct information, the best doctors, and the best therapists.  You cannot rely on media presentation for fact since they appear to fall short quite often.  You cannot dismiss potential for vaccine injury when affected patients have received significant compensation from vaccine injury programs - acknowledging that vaccines can be harmful to children.  

You have to question your pediatricians who appear to have little or no knowledge of the clinical presentation of autistic children.  Many of my parents actually teach their doctors and engage in an intelligent dialogue so they can come to an intelligent decision about feeding, vaccinating and evaluating their children.  After all, we are all on the same side aren't we?  We all vowed to do no harm. 

When there is evidence of harm on a patient-by-patient basis, it is short sighted to discount this information and fall back on the dogmatic belief that everything is just fine, that all vaccines are safe and that "one size fits all." In fact, if all physicians took the time to treat the patient and not just the disease, we would discover that "one size fits none."