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Olmsted on Autism: Get the lead out

Spontaneous Horsepucky

Jb_handley_photo By J.B. Handley

Have you ever tried to talk to someone involved with autism from the “other” side about recovered children?

Typically, the conversation goes something like this:

Us: So you think autism is a genetic condition and biomedical intervention is quackery?

Them: Yes, exactly.

Us: But what about the children who are recovered, how do you explain them?

Them: Well, they may have been misdiagnosed…

Us: Well what about the kids who have multiple diagnoses saying they were autistic and have been re-screened and no longer have a diagnosis?

Them: Well…a certain percentage of autistic children do spontaneously recover, we know that’s true. They probably fall into this camp.

Us: They spontaneously recover? What does that mean?

Them: Well…they do normalize…we just don’t know why.

Us: But most of the parents of recovered kids can tell you exactly why they recovered – they have the tests, videotape, and first hand experience to walk you through it.

Them: Well, they may think they know why, but no one really does…

Us: Buttsmoochersezwhat?

Them: What?

And, there you have it: "Spontaneous recovery." I thought that was about as ridiculous as it would get. Until I read this recent News Day article, which reports on some scientists from Cold Spring Harbor Laboratory with a new “discovery” regarding genes and autism:

“With his Cold Spring Harbor collaborators, Jonathan Sebat and Lakshmi Muthuswamy, Wigler has found that spontaneous mutations specific to autism occur with a relative degree of frequency in the human genome. These random strikes are technically known as copy number variants, or CNVs. The Cold Spring Harbor team defines these mutating hits as a major cause of autism.”

Spontaneous Genetic Mutations. Yup, that’s what they’re saying.

“Why does your son have autism?”

“Well, nothing we could do, he got some spontaneous genetic mutations. Oh well.”

Shockingly, a measure of sanity came from a very unlikely source in the article, Alison Singer of Autism Speaks who noted:

"We want them to pursue the science wherever it leads," Singer said. "But we don't want to get into a situation where we blame the parents. When some parents read stories about older fathers or older mothers, they can become very sensitive." Singer said what's missing in Wigler's work is the mechanism that causes genes to mutate. Susceptibility genes, she said, often need an outside stimulus to set off a genetic chain of events. Perhaps parents may be correct who think vaccination underlies autism, said Singer, whose daughter and brother are autistic.

(Because I’m writing about the “spontaneous” theories right now, I’ll let Ms. Singer’s comments about vaccines go for the moment with a three-letter commentary: WTF?!)

Ms. Singer points out what is missing from all this “spontaneous” talk: something has to cause the spontaneous! Spontaneous is simply a euphemism for: We haven’t a friggin’ clue why this child recovered or why this gene mutated.

As Professor Boyd Haley so eloquently pointed out in an email after reading about the new “spontaneous mutation” study:

This is so much smoke and mirrors that it is unbelievable. First, the "spontaneous mutations" they claim causes autism have to have a cause of their own. Spontaneous mutations did not first appear in 1985-88, they have been around forever. Spontaneous mutations are caused by chemical events such as oxidative stress that is associated with hydroxyl radical formation and other reactive oxygen species (ROSs). ROSs react with the bases in DNA changing them and causing the "spontaneous mutations" they refer to.

To summarize, all spontaneous mutations are caused by chemical induced reactions---they are just called "spontaneous" because the geneticist does not know what caused them. The reported increase in "spontaneous mutations" in autistics has to be due to an abnormal body chemistry (e.g. increased oxidative stress caused by a toxicant) in their body. DNA bases do not mutate without some undue stress such as oxidation or photolysis by UV light.

Therefore, it is ridiculous to state that "spontaneous mutations" are the genetic cause of autism without searching deeper to see what toxic exposure caused the abnormal chemical environment in their bodies that lead to the mutations. For example, low glutathione levels or the inability to excrete mercury in an individual (reported in autistic children) could cause an oxidative stress in the body leading to the spontaneous mutations when this individual is exposed to a toxicant like mercury or thimerosal. But without the toxic exposure there would be no "spontaneous mutations".

As an added explanation, anyone that has any significant chronic illness most likely would have more "spontaneous mutations" than a comparative healthy person. No one should be surprised that a toxic autistic child would have more "spontaneous mutations" than a comparative healthy child, it has been proven time and time again that autistics are ill and suffering from oxidative stress and aberrant body chemistries.

The geneticists at Cold Spring Harbor most likely know this, but who wouldn't want to pitch the problem to obtain millions more in funding? Calling this a unifying theory is pathetic and misleading. If indeed, the spontaneous mutations are causing the autism then there will be no cure and no chance of reversal as today it is not known how to reverse mutations.

However, if the toxic effects leading to the oxidative stress is causing the autism by chemistry not at the genetic level, then removing or reversing the toxic effects can lead to a cure. I think the latter is most likely, otherwise the geneticists would have found a set of specific mutations that correlated to autism and they did not report such to my knowledge.

Thank you, Professor Haley, for always being a voice of reason and sanity for parents trying to wade through the seemingly endless supply of science trying to disprove what many of us believe to be true: that autism is an environmental condition, triggered by outside factors like vaccines and heavy metals and therefore treatable.

J.B. Handley is co-founder of Generation Rescue.

Comments

Ross Coe

Its sad the comment section fills up with drivel and tripe and emotional responses. NOT HELPFUL or entertaining. What it indicates is how much confusion exists. It exists because of competing theories. Billions spent on gene research has been only so helpful, but it continues. Forms of medical intervention for constipation and gut based illness that seems to include an affect on the brain get few research dollars. These children have multi-system problems. Mainstream medicine has failed them, and psychiatry/psychology are just in the way. Gene research too is hampering other research.

Margaret Romao Toigo

My third child "recovered" from autism.

Until she was almost 4, she hardly spoke English. Her and her older brother -- who's classically autistic -- spoke gibberish to one another while lining up toys and building weird structures with wooden blocks.

The two of them would watch the same Pokemon tape over and over again while standing on their toes, flapping their arms, and making strange noises. She threw tantrums during which she would writhe on the floor, kicking and screaming for over an hour. And she would not use the potty.

We had made an appointment to have her evaluated for autism when she was 3.5 years old, but it was six months away, scheduled for a week after her 4th birthday.

Somehow, in the six months between when the appointment was made and the actual date upon which it would take place, she slowly snapped out of it; she started speaking English, asking and answering questions, engaged in more conventional play activities, learned to use the toilet and dress herself, and her tantrums became less frequent and intense, and did not last as long.

Since she would now very likely fit into a mainstream kindergarten, we cancelled the appointment and haven't looked back. She's six now, and indistinguishable from her peers, except she still walks on her toes and flaps her arms whenever she's excited.

I cannot explain how, or why, this happened, but it did. So, whenever I read anecdotes about "recovered" autistic children -- even though I must often question the "how" and "why" portion of such accounts -- I believe them.

Bob Moffitt

Take heart fellow travellers, the day is soon approaching when "common sense" will prevail.

"Spontaneous mutation" is not "scientific research". It is "sceintific reach" that defies "common sense".

Lisa A Jeffs mom

Another great effort JB

One comment for THEM:
Spontaneous recovery? How dare they make light of hard work by parents and miracles by their kids.

Over time more and more kids recovering and more and more families with before and after details that it will be hard to sluff it spontaneous.

I just hope it is sooner than later...

Anne

Aren't the "recovered children" the ones with "residual state" autism? The idea that kids who had autism diagnoses could reach a state where they no longer qualify for the diagnosis is not new. The DSM-III had a "residual state" category while the DSM-IV does not, but apparently the concept of residual state autism does live on, at least at the California Department of Developmental Services.

Editor

Trish, I'm sorry you lost your family member. Thanks for posting a comment. Kim Stagliano, RP Editor

Trish

This is OT, but I have a nephew who recently passed away from cancerous tumors. He had neurofibromatosis. He was born in 1971, and at birth, he was perfectly fine. Sometime in that first year, he was dx'd. No family member from either side has been known to have it. We were told that his was caused from a mutated gene, but if he were to have children, it would become hereditary. He did not have children and no other family member has given birth to a child with this disease. I am wondering now, if this mutated gene could have been set off by his shots???? What about other "syndromes"??? Hmmm....

Kelli Ann Davis

You guys/gals are too frickin funny!

And "frickin" isn't a swear word so no editing please.

Kristina Chew

To put spontaneous ("de novo") genetic mutations a bit more into context, here is John Timmer (of ArsTechnica.com):

http://arstechnica.com/journals/science.ars/2007/07/24/autism-may-all-be-in-the-genes

And here is my post on Wigler's research at Autism Vox.

http://www.autismvox.com/mutatis-mutandis-genetic-mutations-and-being-at-high-risk/

Regards.

John Best

I like the better diagnosis argument the most. If this were true, they'd be able to produce 76 year old autistics at the rate of 1 in 150 without any trouble.

If they can do that, I'll..... (deleted by editor for reasons you'd thank me for, dear readers.)

I won't be offended if you delete this. (Thanks for understanding, John.)

Heidi Roger

I'm so tired of this fight. Us: Theres a cause. Them: Ideopathic. Us: No, really, theres a biomedical cause, no joke. Them: Genetic. Us: (crying) Lorenzo's oil! Them: Crybaby. Suck it up, toss the kid in a group home and get on with your life. And make sure his vaccines are up to date. Us: (mad) We'll do the studies ourselves. You all know this play. There are weeks that I mentally abandon you all and pretend my son has Prader Willi or William's so I don't have to be mad at the Government and the big coverup anymore. But, this week at least, I am shoulder to shoulder with my comrades in this fight, hoping my spontaneous genetic mutation causes a 40 pound weight loss. Kim, you can have whatever I lose from these DD's!

Stagmom

Could I possibly have three children whose "spontaneous mutation" lead to EXACTLY the same diagnosis?????? Puleeeze. And the tooth fairy lives in my mail box. And yet, this is the new "Company line" to explain away autism. Sudden, spontaneous mutations affecting 1 in 150 children..... Perhaps I'll achieve a sudden spontaneous mutation soon and finally have the 36C chest I've always wanted? A gal can hope, can't she? Not to mention her husband. ;)

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