Autism and Mitochondrial Disease

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This week, a finding from November of 2007 hit the news, after being sealed by Federal Courts to protect the plaintiff’s identity. The US government has conceded one vaccine-autism case in the Court of Federal Claims. Of significant interest, the vaccine is thought to have triggered the onset of an underlying mitochondrial disease.

The US Government document states “vaccinations CHILD received on July 19, 2000, significantly aggravated an underlying mitochondrial disorder, which predisposed her to deficits in cellular energy metabolism, and manifested as a regressive encephalopathy with features of autism spectrum disorder.”

What does this mean? On first blush, I am reeling from the idea that this could be evidence which connects autism spectrum disorders with mitochondrial disease. For several years, the parents in our MitoAction community have been describing their children’s autistic symptoms while struggling to classify their child’s mitochondrial disease into the same category. Needless to say, like many cases that are atypical or difficult to classify, patients and parents were often dismissed by their physicians, schools, employers and specialists (do the words “nervous mother” or “hypochondriac” ring a bell?)

All right, let’s settle down. What else could this groundbreaking concession imply? It is my opinion that there are many, many people (adults and children) in our population today that have either 1) an undiagnosed or misdiagnosed Mt disease, or 2) have an underlying predisposition to mitochondrial disease. Recent research studies have found links between mitochondrial dysfunction and common diseases of aging, such as Parkinson’s and Alzheimer’s disease. Further, the impact of the health of the mitochondria as the energy source for the entire body is not fully understood.

David Kirby, a journalist and long-time advocate of the “autism-vaccine debate”, speculates in his blog about the implications that could follow as a result of this groundbreaking news. His comments, as well as the actual document from the US Government, are well worth reading. Further, he describes an interesting but little known phenomenon.

Among children seen at the Krieger institute with developmental delay and ASD (autism spectrum disorder), “mitochondrial disease has been the most common diagnosis and may account for as many as 20% of autistic children.”

Mitochondrial diseases are difficult to diagnose (that’s an understatement), and even more difficult to classify for many adults and children. Many patients have a mitochondrial disease with a component of X, Y, and Z, such as “Complex I and III with leukodystrophy”, or “Complex IV with eosinophila”, or “unspecified mitochondrial disease with features of ASD”. Unfortunately, patients and parents have been receiving these creative titles with very little support, strategy or guidance on what those words actually mean.

Mitochondrial disease is often dismissed as “rare”, when actually the incidence and prevalence of the disease may be much more common than reported due to the lack of understanding and high incidence of misdiagnosis. It is estimated that mitochondrial disease affects one in 4000 people, yet this estimate does not account for the potential population of people who have an underlying mitochondrial disorder, or a predisposition to mitochondrial dysfunction. The onset and subsequent diagnosis of Mito in adults can often be traced back to a significant event, such as a serious sickness, significant dehydration or heat stroke, trauma, or prolonged period of stress. That, at least, makes sense in the “autism-vaccine-mitochondrial disease” debate. Patients with mitochondrial disease know that prevention of any condition or environmental factor which could trigger a crisis or progression of the disease is the front-line approach to managing the disease daily.

For the first time, mitochondrial disease is making major headlines, and I think it’s about time. It’s about time that the adults and children who are robbed of their energy are supported, recognized, and understood. For all the attention that lifestyle-related diseases (heart disease, diabetes, cancer) have received in the last decade, I have hope that now our attention will shift to understanding how the environment and genetics impact our health, and the lives of future generations. What do you think?

Cristy Balcells RN MSN, Executive Director www.MitoAction.org and Mom of 3