Father: Child's case shifts autism debate

[Guest guest]

Father: Child's case shifts autism debate

http://www.ajc.com/opinion/content/opinion/stories/2008/04/11/polinged

0411.html

By Jon S. Poling

For the Journal-Constitution

Published on: 04/11/08

Autism in the U.S. has reached epidemic levels, at 1 in 150 children.

Dr. Gerberding, director of the Centers for Disease Control and

Prevention, has recently upgraded autism to " an urgent health

threat. " The most contentious issue of the autism debate is the link

to routine childhood vaccines. My daughter's case, Hannah Poling v.

U.S. Department of Health and Human Services, has changed this debate

forever. Hannah has pointed us in a new and promising direction —-

the mitochondria.

On Nov. 9, 2007, HHS medical experts conceded through the Department

of Justice that Hannah's autism was triggered by nine childhood

vaccinations administered when she was 19 months of age. This

concession was granted without any courtroom proceedings or expert

testimony, effectively preventing any public hearing discussing what

happened to Hannah and why. Contrary to some reports, the Special

Masters, " judges " who preside over the " vaccine court, " did not issue

a decision.

Four months later, on March 6, with trepidation my wife, Terry, and I

stepped forward to announce this news —- providing hope and awareness

to other families. The HHS expert documents that led to this

concession and accompanying court documents remain sealed, though our

family has already permitted release of Hannah's records to those

representing the almost 5, 000 other autistic children awaiting their

day in vaccine court.

Mitochondria key

To understand Hannah's case, it is important to understand

mitochondria, which act like batteries in our cells to produce energy

critical for normal function. Because the government's concession

hinged on the presence of Hannah's underlying medical condition,

mitochondrial dysfunction, some claim the decision is relevant to

very few other children with autism. As a neurologist, scientist and

father, I disagree.

Emerging evidence suggests that mitochondrial dysfunction may not be

rare at all among children with autism. In the only population-based

study of its kind, Portuguese researchers confirmed that at least 7.2

percent, and perhaps as many as 20 percent, of autistic children

exhibit mitochondrial dysfunction. While we do not yet know a precise

U.S. rate, 7.2 percent to 20 percent of children does not qualify

as " rare. " In fact, mitochondrial dysfunction may be the most common

medical condition associated with autism.

Biological markers

Although unlikely, if the Portuguese studies are incorrect and

mitochondrial dysfunction were found to be a rarity occurring in less

than 1 percent of all autism, it would still impact up to 10,000

children (250,000 worldwide), based on current estimates that 1

million people in the U.S. (25 million worldwide) have autism. If, on

the other hand, the research showing that 7.2 percent to 20 percent

of children with autism have mitochondrial dysfunction is correct,

then the implications are both staggering and urgent.

Autism researchers do not currently understand whether mitochondrial

dysfunction causes autism or is simply a secondary biological marker.

Autism clearly has many different causes, and should really be

separated into multiple autism(s). I propose that we clearly identify

and research the subpopulation term of " mitochondrial autism, " which

is distinguished by its unique biological, but not genetic, markers.

Based on what we know now, it is time to follow the prestigious

Institute of Medicine 2004 report regarding autism and vaccines:

" Determining a specific cause (for autism) in the individual is

impossible unless the etiology is known and there is a biological

marker. Determining causality with population-based methods requires

either a well-defined at-risk population or a large effect in the

general population. "

A paradigm shift

When the IOM report was published, mitochondrial dysfunction defining

an autistic subpopulation was not firmly established. Today there is

no doubt that mitochondrial dysfunction represents a distinct autism

subpopulation biological marker. I urge health officials and the IOM

to embrace their own report and pursue this breakthrough in the

science of autism. National public health leaders, including those at

CDC, must now recognize the paradigm shift caused by this biological

marker with regard to their current position of dispelling a vaccine-

autism link.

In light of the Hannah Poling concession, science must determine more

precisely how large the mitochondrial autism subpopulation is: 1

percent, 7.2 percent, 20 percent?

Based on the 2004 IOM analysis, if the mitochondrial autism

subpopulation is found to be relatively uncommon, then all

conclusions from prior epidemiological studies refuting an autism-

vaccination link must be discarded. New studies then need to be

performed exclusively with the mitochondrial subpopulation. If

mitochondrial autism turns out to be common, then we could re-analyze

the data from prior studies to determine if these studies were

powered sufficiently based on a predicted effect size. If not powered

appropriately, the conclusion refuting an autism-vaccine link would

again have to be rejected. These statistical concepts are basic.

The current vaccine schedule, co-sponsored by the CDC and the

American Academy of Pediatrics, injures a small but significant

minority of children, my daughter unfortunately being one of those

victims. Every day, more parents and some pediatricians reject the

current vaccine schedule. In an abundance of caution, meaningful

reform must be performed urgently to prevent the re-emergence of

serious diseases like polio or measles.

Need for research

As a neurologist, I have cared for those afflicted with SSPE (a rare

but dreaded neurological complication of measles), paralytic polio

and tetanus. If these serious vaccine-preventable diseases again

become commonplace, the fault will rest solely on the shoulders of

public health leaders and policymakers who have failed to heed the

writing on the wall (scribbled by my 9-year old daughter).

The mitochondrial autism scenario that my daughter has so eloquently

painted has the CDC and public health experts logically cornered.

Denial and fear tactics won't close Pandora's Box. Whether we find

that mitochondrial autism is rare or common, there is urgent research

left to be done to fully understand the interrelationship of

vaccines, autism and mitochondria.

Reform of the vaccine schedule will be an important part of the

solution, whether vaccines play a major or minor role in autism. Our

public health agencies and programs need a reconstruction plan. Day

one of the reconstruction hopefully starts at the Vaccine Safety

Advisory Committee's Working Group, to be held at HHS headquarters

today in Washington.

Dr. Jon S. Poling is a practicing neurologist in Athens and clinical

assistant professor at the Medical College of Georgia.