Evidence of Misinformation

7 Mar

This entry is once again guest blogged by SL. I’d like to thank SL once again for providing clarity on a massively complex issue.

I’m going to try and break down some of Kirby’s most confusing points he makes with regard to autism and mitochondrial disease. He is misleading, irresponsibly selling falsehoods and half-truths as fact. As Jon has pointed out on LB/RB, his math is way off at times. I’ve spent hours reviewing scientific studies, and hopefully can further clear up any confusion Kirby may have created.

Evidence of Misinformation # 1

Mitochondrial disorders are now thought to be the most common disease associated with ASD.

Well, it took some digging, but I found where Mr. Kirby came up with this one-liner. You will find a similar (yet, not really what he says) statement in here:

A minority of cases of autism has been associated with several different organic conditions, including bioenergetic metabolism deficiency. In a population-based study, we screened associated medical conditions in a group of 120 children with autism (current age range 11y 5mo to 14y 4mo, mean age 12y 11mo [SD 9.6mo], male:female ratio 2.9:1). Children were diagnosed using Diagnostic and Statistical Manual of Mental Disorders criteria, the Autism Diagnostic Interview – Revised, and the Childhood Autism Rating Scale; 76% were diagnosed with typical autism and 24% with atypical autism. Cognitive functional level was assessed with the Griffiths scale and the Wechsler Intelligence Scale for Children and was in the normal range in 17%. Epilepsy was present in 19 patients. Plasma lactate levels were measured in 69 patients, and in 14 we found hyperlactacidemia. Five of 11 patients studied were classified with definite mitochondrial respiratory chain disorder, suggesting that this might be one of the most common disorders associated with autism (5 of 69; 7.2%) and warranting further investigation.

That last line sounds vaguely familiar right? Except, Kirby sold it as truth. Whereas in the study, it is presented as a thesis to be proved later on. A suggestion, a possible link, warranting further investigations. That’s much different from Kirby’s statement of fact, that mito *IS* the most common disease associated with ASD. Also, this study presents us with a figure of 7.2%, we’ll need this number later on.

Now, perhaps I’m wrong here. Maybe Kirby is getting his information elsewhere. So, then, what are his sources? Does a study exist which compares children with autism or autistic features who also have mito vs. those who also have other genetic disorders? How do those numbers compare? With the myriad of genetic disorders, I’d be highly interested in this. There’s a reason why so little is known about mito: it is a RARE disease. Has Kirby seen additional studies? Can he offer us large numbers of autistic children, being shown to have mitochondrial disorder too? No, he has one court case that he is referencing. He is using made-up figures and for some reason, fantasizes about autistic children having a mitochondrial disease.

I did find a few actual studies that I can reference. And, none state that mitochondrial disease is the most common disease associated with autism. I wonder about the Autism Genome Project Consortium’s study study with the strong link to Chromosome 11. Or the review by the Autism Research Unit UK, pointing to gastrointestinal problems, viral illnesses, and genetic disorders as factors in autism.

This study shows that “several metabolic defects have been associated with autistic symptoms with a rate higher than that found in the general population.” This essentially argues the opposite of what Kirby states. There are more autistic symptoms seen in some people with metabolic disorders than compared to the rest of the population. If I have Group A (General Population) and Group B (persons with metabolic disorders), according to this study, Group B will have more more people with autistic symptoms. This does not say that within a group of autistic individuals, metabolic disorders are most prevalent. Also, the study says “autistic symptoms” which is not the same as autism. Children with gastrointestinal dysfunction, seizures, etc. associated with a metabolic disorder could very likely appear to have “autistic symptoms.”

Another factor to consider is proper diagnosis (ruling out autistic features being secondary to a disease, vs. being true autism), and that any child presenting with autism or autistic features, should be screened properly. It is reasonable to rule out certain genetic and psychological disorders, such as those mentioned here. Equally important, with regard to mitochondrial disorders, is how samples are taken and tested. If someone unfamiliar with mitochondrial diseases, or a lab is improperly equipped, you may get inaccurate results. Also, because someone has “markers” for a disorder, that does not mean they definitively have that disorder or disease. In the majority of cases, an autistic child does not have a primary disorder, such as mito.

Evidence of Misinformation #2:

Some journal articles and other analyses have estimated that 10% to 20% of all autism cases may involve mitochondrial disorders, which would make them one thousand times more common among people with ASD than the general population.

Again, Kirby uses the same language to try and make his point. The words “some” and “other” should be the first red flags you see. What journal articles? What “other analyses” can be cited? It would be so very helpful if he would document where he gets the 10-20% figure from. This would be of great help, and would further this discussion. If he has real sources, scientific studies, any type of evidence of this, share it. I am not entirely against the idea that 10-20% of autistic individuals who have had a true regression, also have mitochondrial disease. I said it in a previous post – if a child has a well-documented, real regression, other things should be looked into (like mito, genetic disorders, etc.).

Remember that 7.2%? That is the only figure I was able to find in regards to the prevalence of mitochondrial disease in children diagnosed with autism. It is from the study I have posted above. 7.2% seems rather high, and certainly many more studies would need to be done to come to a more accurate figure. Another concern is the methods in which these children were diagnosed (i.e. tissue biopsy). Regardless, 20% is quite a jump from a documented 7.2%.

Here are some real numbers regarding mitochondrial disease, as well as autism. From the Cleveland Clinic:

About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years. One thousand to 4,000 children per year in the United Sates are born with a type of mitochondrial disease.

According to The Mitochondrial and Metabolic Disease Center (at UCSD):

Four million children are born in the US each year. This means that 1000 to 4000 children will be born each year with mitochondrial disease. By comparison, about 8000 new cases of childhood cancer are reported each year. Both mitochondrial disease and childhood cancer range in mortality from 1O to 50 percent per year, depending on the specific disease.

Going with the CDC’s 1 in 150 figure and Cleveland Clinic’s 4 million births per year, we can pull some more numbers from Kirby’s 10-20% theory. Currently, there are 1000 – 4000 children born with mito each year, or 0.03-0.10% of all births. Compare that to 26,670 (or 0.67%) estimated number of autistic individuals born in a year. If 10% of autistic children have mito, that means 2,667 additional children would be born with mito. At 15%, you have an extra 4000, at 20% an total of 5,333 more children would be born with mito. The likelihood of mito then increases up to 0.23%. That’s a substantial increase in cases of mitochondrial disease. And they portray autism as an epidemic?

And, speaking of the so-called “Autism crisis,” Kirby’s idea that 10-20% of autistics really have mitochondrial disease changes the rate of autism quite a bit. Autism figures would start to look more like 1 in 187. If indeed, 10-20% of autistics (2,667 – 5,333) truly do end up having mito, what would be the advice to those families with regard to vaccines? Who will be held accountable when families who have mitochondrial disease are devastated to find out how vital those vaccines are to their children?

Is Kirby also aware that in some families with mitochondrial disease, children can be affected to varying degrees? The argument may be that this “autism-mito” group is “less-affected” by the disease. Well, their siblings, including those born in the future, could be born with more severe forms of the disease. People have led countless numbers of families to forgo their vaccinations. What would be suggested when a family who only vaccinated their eldest (autistic) child, has 2 more children, both of which have more severe forms of mitochondrial disease? What would be said if one of those children died after being infected by a disease that could of been prevented had the family been properly vaccinated?

Evidence of Misinformation #3:

Another article, published in the Journal of Child Neurology and co-authored by Dr. Zimmerman, showed that 38% of Kennedy Krieger Institute autism patients studied had one marker for impaired oxidative phosphorylation, and 47% had a second marker.

Below is the actual report from the study. This is the study that Dr. Poling also co-authored, interestingly enough. I assume he prompted this study, following his findings with his own child. I assume the girl in the case is in fact, his own daughter [It is – KL](test results are the same).

To determine the frequency of routine laboratory abnormalities in similar patients, we performed a retrospective study including 159 patients with autism (Diagnostic and Statistical Manual of Mental Disorders-IV and Childhood Autism Rating Scale) not previously diagnosed with metabolic disorders and 94 age-matched controls with other neurologic disorders. Aspartate aminotransferase was elevated in 38% of patients with autism compared with 15% of controls (P < .0001). The serum creatine kinase level also was abnormally elevated in 22 (47%) of 47 patients with autism. These data suggest that further metabolic evaluation is indicated in autistic patients and that defects of oxidative phosphorylation might be prevalent. (J Child Neuro 2006;21:170—172; DOI 10.2310/7010.2006.00032).

Kirby leads you to believe that both figures (38 & 47%) come from the same total of participants. It does not. The 38% is from the total of the group of 159. The 47% comes from a smaller group (subset, perhaps?), consisting of 47 patients. Kirby presents this information in such a way, that someone not willing to look at the numbers, would assume that nearly half of the autistic children in this study have mitochondrial disease. This is not the case.

Interesting to note:
Creatine Kinase (CPK) can also be a marker for for heart attack, hypothyroidism, and several other diseases.
Aspartate aminotransferase (AST, previously known as SGOT) is more commonly a marker for liver disease.

Also, these are two of several “markers” found to be abnormal for my daughter. My daughter does *NOT* have mito. It’s quite a leap for anyone to make that abnormal results for these two “markers” qualifies as mitochondrial disease. As in the study at the beginning, this one at the end makes its conclusion using careful words like “suggest,” and “might.”

Sorry, Mr. Kirby, but the dots you try to connect and the holes in many of your statements are potentially misleading. It’s unwise to make false claims, presenting them in a “scientific” or at the very least professional sounding manner. Parents who don’t know any better, have limited time or resources, they read what you have written. They take it as fact, and base very important decisions on what they read from you. I would never want to be responsible for causing pain and suffering via unwarranted, invasive medical testing to numbers of children. I couldn’t look myself in the mirror if my recommendations (to avoid vaccines) proved to be harmful to the very families who were so very “loyal” to me.

91 Responses to “Evidence of Misinformation”

  1. Marla March 7, 2008 at 15:29 #

    This is all so confusing. I will say that we took our daughter to the Cleveland Clinic for genetic testing and mitochondrial testing and it was a good thing we did. She was diagnosed with a Chromosome disorder which let us know we needed to look into possible problems with her heart and belly. Luckily, she tested negative for mitochondrial disorders. I think all of the arguing and debating pushes people away from important testing for their children. Then, after testing acceptance and knowing what to look for in order to help your child be healthy and happy.

    At the Clevelnad Clinic the doctor told us that it is more common for children like M to have comorbid conditions. They did not believe her condition was caused by vaccines. I asked just to see what they would tell me.

  2. S.L. March 7, 2008 at 15:46 #

    Hi Marla,

    It is confusing, and the truth can very easily get lost in the numbers. I DO think it’s wise for an autistic child to be screened for genetic and metabolic disorders. This would be an appointment with a geneticist, who may (if warranted) order blood tests. This type of screening and testing is far less invasive than that for mito. My greatest concern is the number of children who may undergo painful, invasive, and expensive (mito) testing, which carries its own set of risks, all of which is most likely unwarranted.

    The bottom line is that mitochondrial disease is very rare, and the hysteria that is being created by some, is unfounded. I agree, it is more common to have an autistic child who also has a genetic disorder (i.e. Prader-Willi, Smith-Magenis, etc.) and/or to have comorbid conditions (such as ADHD, seizures, etc.), compared to the general population.

    Every expert I have spoken to, and who has examined our child, also firmly declares that none of her issues are related to vaccines. They all strongly advise vaccinating our child, which we have done and sleep better at night having done so. My best to you and your child.

  3. S.L. March 7, 2008 at 16:25 #

    Ah-huh! I missed it last night when I read this study. I suppose that’s because I read it correctly, and didn’t simply take a figure out of context. Please read, this is where the 20% is coming from (well, not really, as you’ll see):

    The objective of this study was to estimate the prevalence of autistic spectrum disorder (ASD) and identify its clinical characterization, and medical conditions in a paediatric population in Portugal.

    The global prevalence of ASD per 10,000 was 9.2 in mainland, and 15.6 in the Azores, with intriguing regional differences. A diversity of associated medical conditions was documented in 20%, with an unexpectedly high rate of mitochondrial respiratory chain disorders.


    As you can see, the 20% in NO way means that 20% of the children had mito, but rather “associated medical conditions,” which could mean anything from seizures, asthma, reflux, any medical condition you can think of.

    We do not know what percentage of that 20% actually had mitochondrial respiratory chain disorders. Was it 2%, which is higher than the general population? Or 7.2% as suggested by another study? We simply do not know.

    The ONLY conclusion one can draw from this study is that an autistic person is more likely to have comorbid medical conditions than the general population. That is nothing new, and again, says nothing as far as the rate of mitochondrial disease found in autistic individuals.

  4. Joseph March 7, 2008 at 17:05 #

    A diversity of associated medical conditions was documented in 20%, with an unexpectedly high rate of mitochondrial respiratory chain disorders.

    Yep, I think you nailed it S.L. In fact, I’d like to issue a challenge to David Kirby to tell us where he got the 20% figure.

    I know he’s not very good with all this annoying work involved in, you know, substantiating claims and citing sources, but in this case I think some clarifications are needed.

  5. gwynfryn March 7, 2008 at 17:14 #

    Merely using a term like ASD is “misinformation” (for starters, in what way does this disparate group even begin to resemble a spectrum?): I just read the “Victorian Autistics” piece (can’t find any way to respond there) which states that Kanner first defined “autism disorder”. Even that may not be true as there are several prior examples such as Bleuler’s use of it (to label a phase of scizophrenia in his paper of 1912) and Rosanoff’s (to label one of his “four great disorders”) and others pre 1945. One thing is quite clear though; Kanner no more defined “autism” than the guy who devised the “norwegian rat” label defined “norwegians”!

    Everything based on the belief that “autism” is anything other than a personality type, is misleading. This was described very precisely by Aron Rosanoff (again) in his Theory of Personality paper of 1921 (available on google scholar) and seems the most probable cause of Asperger’s surmise that “without autism, there could be no science,…” (or do you think he got the notion from disordered kids?!). His theory was investigated thoroughly by Humm and Wadsworth to produce their Temperament Gradient paper of 1935 (interesting date don’t you think? This would have been big news just before WW2 put a stop to most communications between Kanner’s USA and Asperger’s Austria, just as both were setting out on their studies).

    Worth noting, too, is that this Temperament Gradient is the basis for many of today’s best psychometric tests (google “Chandler & Mcleod”, and try their free on-line test for a taste of what these can do) which are the bread and butter of industrial psychologists (who know all about autism, but never cross pollinate with “autism experts”; do they work on different planets or something?).

    Other than one exeption, no “autism expert” I’ve approached (I’ve been trying to raise this issue for 4 years now!) will either acknowledge questions about using such psychomatrics (badly needed to differentiate objectively between “defects” and “differences” which said “experts” seem curiously inept at) nor admit the existance of Aaron Rosanoff’s theory.

    So what are individuals who are dominantly autistic like? They are weird! They are inately honest (or blunt) and egalitarian (they don’t do “status”) highly creative (Rosanoff attributed creativity exclusively to that segment he labelled “autistic”) analytical, contemplative (these guys actually enjoy thinking, problem solving, trying to understand how things work!!!) and are generally disinterested in what others do. When they do communicate with others, they tend to be literal, and display a level of objectivity and rationality (pedantry?)which makes them all but incomprehensible to normal (whatever that means?) people. They are misfits, they are odd, they are difficult to like (especially from the viewpoint of the status freaks who expect deference, respect, and undivided attention from their “inferiors”, and who are mortally offended by anyone who challenges their opinion).

    But look on the bright side; from biographical evidence, we can identify autistics such as Archimedes (his eureka event, the manner of his death), Galileo (when his long time friend became Pope, and so had to change tack on scientific issues, poor old Galileo just didn’t get it) JC Maxwell, Tesla…in fact just about everyone who produced any notable invention or breakthrough in science!

    Think I’m indulging in fantasy? While so many “experts” (just google “link science autism”) on the web are trying to convince us that obvious “aspies” like Newton or Einstein (HFA really) succeded despite(?) their awfull(?) afflictions, or that the appearence(?) of autistic characteristics in people like Keppler or Pasteur was just a side effect of extreme intelligence, Kevin Chandler, an industrial psychologist with a lifetime’s experience studying temperament and apptitude, agrees with my that all the great scientists of history where “100% autistic”. Nowadays, those autistics which can still find employment, are usually to be found in engineering design, programming or other “geek syndrome” passtimes (“scientist” is now a job title reserved for status driven “repeaters” who wouldn’t dream of challenging either orthodoxy or authority).

    Is there a connection between this personality type and some of the disorders commonly assosciated with he word? Maybe they are more sensitive to some malign vectors (or maybe just closer to the edge on issues like “introversion”)? It’s certainly possible, as there is considerable overlap between descriptions; most “self-diagnosed” autistics are able, self-possessed, people who nonetheless identified with what they read on AS, or else discovered for the first time, so many previously unknown phenomena (status, non-verbal communication, hidden agendas) which “normal” people deem so essential (but never talk about) which gave rise to so many misunderstandings which were hitherto unexplicable (and for which they were always blamed). Can some of the actual disorders, within ASD (but not connected to autism) be due to MMR? Again it’s possible, but the current gouping renders statistical analysis quite futile. There is absolutely NO chance, however, that autism, itself, is caused by mercury (nor bad parenting, or any of the other crap). As long as “experts” keep working on the basis that there is a causal link between the grabbag of issues now labelled ASD (which, in fact, is what Taxonomists amusingly refer to as a “waste basket” category; just a convenient receptacle for left-overs which cannot otherwise be categorised) then it’s near impossible to prove anything at all about any of them. To understand why there’s been no real progress since the “refrigerator mum” myth was exposed (1960s!) one need look no further than the facts that: no real autistics are employed in autism research, nor even looked at by reserachers (google Autism Research Center, and look at their web pages; every single one has a prominent notice specifically refusing to examine anyone without an official diagnosis! This ensures that no data from non-defective autistics, will ever be allowed to polute this establishment mandated fantasy) and no one is making the least effort to break down ASD into managable, comprehensible categories (quite the opposit in fact; recent developments were designed to both complicate matters, and diminish the importance of essential considerations, like personnality).

    So some(?) experts are suspected of trying to deliberately mislead? Taking all the facts into account, historical and otherwise, it rather begins to look like they are all doing it (or else are too incompetent to be aware of what’s going on?)! This whole mess could hardly have come about if it wasn’t intentional, and it all started when someone failed(?) to notice the entymological significance of Kanner’s use of two words, “autistic” AND “disorder” to label what he was describing, and began using them interchangeably. In no other field would anyone suppose that terms like “yellow fever” meant that all fevers are yellow (or vice versa) or that “nile” and “crocodile” are synonimous. This brings us to the conclusion:

    To use the word “autistic” as if it properly refers to, and only to, a bunch of (probably unrelated) disorders, is not just misleading, IT IS A BIG FAT DELIBERATE LIE! “Autistic”, when it stands alone, can have only one meaning; it’s a personality type. Kanner new this, as did Asperger (who worked with many kids who would be described as ASD, but he reserved the description “autistic”, exclusively for his “little professors”; how strange that the allegedly greatest living expert on AS, one Lorna Wing, who also invented the ASD label, failed to note this?) and it should also be clear to anyone who has the smarts (“autism experts” need not apply) to realise how unlikely it is that, as is so commonly reported, they are both supposed to have invented the word independantly. The appropriate bottom line here is:

    Don’t trust anything written on autism; do your own research, check the history yourself, get right back to the original (if you can; it’s getting increasingly difficult to find unedited papers by any of these guys, especially Rosanoff). This advice also applies to what I’ve written above; VERIFY EVERYTHING!

  6. passionlessDrone March 7, 2008 at 18:18 #

    Hi friends –

    SL (or anyone else knowledgeable) – You certainly seem to have done your research, maybe you could help me out with something that has been bugging me about both sides of this issue; namely, how do we really know this child had mitochondiral disorder at all?

    By way of example, the child was identified as having a SNP on a specific gene; and other mutations on that gene have been associated with mitochondrial disorders. Great. But this particular deletion, as I understand it, has not yet been linked to mitochondrial disorders. If this is incorrect, please correct me.

    If I remember correctly, everyone on the planet has many, many SNPs. Maybe millions of them; and for the vast majority of us, these haven’t caused us too many problems. What evidence do we have that the particular nuclieotide sequencing error found in this girl was actually causing mitochondrial disorder? In other words, how do we know that this particular SNP isn’t as harmless as the many SNPs you I have, and just happened to fall on the gene?

    We have abnormal metabolic measurements, to be sure, but as you pointed out, there are ways other than genetic mutations on 16S to get some of the same biological markers. Perhaps a more definitive explanation of this is buried somewhere in the voluminous postings on this issue and I haven’t found them yet. (?)

    Any insight is appreicated.

    Take care!

    – pD

  7. S.L. March 7, 2008 at 20:27 #

    You are correct about the SNPs (Single nucleotide polymorphisms). However, in this case, the diagnosis of mitochondrial disease actually came years prior to the identification of her gene mutation; her mutation was not used in determining her diagnosis.

    I tried to reply with the information on how I know this girl has mito disease, but it won’t go through. I’m hoping Kev can post it. I’ll get that information on here asap. Thanks.

  8. Rob43 March 7, 2008 at 20:28 #

    Hi, Have no idea if Kev will let me post anymore. The discussion here remains fascinating and informative, but I’m new here and have no idea of specific interests of those posting. Yet it seems to me that more specific facts in the Poling child’s case are available to you for consideration in the Journal of Pediatric Neurology/Vol 21,Number 2, February 2006. passionlessDrone might have the answer to the question posed above as many of the child’s test results, including the results of a live tissue muscle biopsy, were obtained in the course of this child’s treatment….
    As I’ve posted previously, what the lawyers for the government chose to cite for their theory of damage and its cause(s) in their concession on the case have nothing to do with what a passionless scientist would cite. They have a legal opinion to write, not a recitation of all the evidence, or even the evidence that may be relevant to the issue of how one succumbs to or acquires a severe ASD behaviour outcome (it’s not a disease…)

  9. S.L. March 7, 2008 at 20:44 #

    Thanks!! And, I second that challenge!

    Thank you for that information. I am going to have to look into some of the writings you mention, as I am unfamiliar with some.

    Well, I know this girl has a mitochondrial disease based on her diagnosis made by Dr. Shoffer in Atlanta, GA as per the case’s court papers. Here you go:

    A muscle biopsy test for oxidative phosphorylation disease revealed abnormal results for Type One and Three. Id. at 3. The most prominent findings were scattered atrophic myofibers that were mostly type one oxidative phosphorylation dependent myofibers, mild increase in lipid in selected myofibers, and occasional myofiber with reduced cytochrome c oxidase activity. Id. at 7. After reviewing these laboratory results, Dr. Schoffner diagnosed CHILD with oxidative phosphorylation disease. Id. at 3. In February 2004, a mitochondrial DNA (“mtDNA”) point mutation analysis revealed a single nucleotide change in the 16S ribosomal RNA gene (T2387C). Id. at 11.


    Information on oxidative phosphorylation disease by Dr. Shoffner here:


    Interestingly enough, this child’s DNA mutation was found years after her initial diagnosis of mitochondrial disease.

    Also, if you review the study in my piece above, in which Dr. Shoffner worked with Dr. Zimmerman and Dr. Poling (the girl’s father), you will again see the diagnosis of Mitochondrial Complex I & III.

    To truly understand Shoffner’s findings, their significance, and how a diagnosis of a disease was made from that, you need to do further research mitochondrial disease. That will help explain what the results mean and why she received the diagnosis of mitochondrial disease.

    For more information, I urge you to go to http://www.UMDF.org.

  10. S.L. March 8, 2008 at 00:00 #

    “Jon Poling said Hannah, like her mother, has a rare inherited mitochondrial disorder. Mitochondria are the “power batteries” inside every cell of the body and supply the cell with energy.”

    Her mitochondria was NOT injured or mutated from vaccines.

  11. Leila March 8, 2008 at 00:40 #

    “A diversity of associated medical conditions was documented in 20%, with an unexpectedly high rate of mitochondrial respiratory chain disorders.”

    Bingo, S.L.! I’m a Portuguese-speaker, and I know that a comma, in our language, makes all the difference. : )

  12. Ms. Clark March 8, 2008 at 00:52 #

    OH, so Terry Poling was never vaccinated as a child, and that’s the difference between her and her daughter??? :-/ I.e. if Hannah hadn’t been vaccinated she would be just like her mom? I don’t think so… but good thing they vaccinated her, if she had regressed because of her diarrhea or any other reason and not been vaccinated, there wouldn’t be anyone to sue!

  13. Joseph March 8, 2008 at 01:29 #

    Her mitochondria was NOT injured or mutated from vaccines.

    If the mom has mitochondrial disorder, why did the dad say it’s possible thimerosal gave Hannah the mitochondrial disorder? It makes no sense. Are the Polings acquainted with Kim Stagliano?

  14. Matt March 8, 2008 at 02:27 #

    Did they quote him correctly (and did he speak correctly).

    I thought the point was that the mother had the same mitochondrial marker (or defect) as the child, but did not develop a mitochondrial disease.

    I would have to look at the video again, but that was my recollection.


  15. Schwartz March 8, 2008 at 03:07 #

    Now I’m confused.

    The Case Study does not mention any Mitochondrial disorder and only points to mitochondrial dysfunction.

    However, the linked coverage (Thanks S.L.) of the interview from above has Jon Poling clearly stating that she had a rare mitochondrial disorder was inherited from her mother. He also stated he believed it was the Thimerosal that triggered her condition.

    The specifics around the disorder seems to be quite elusive.

  16. Schwartz March 8, 2008 at 03:11 #


    One thing I noticed you keep saying, and perhaps in some context’s it’s correct. However, from reading the case study, it not require Mitochondrial disease to create dangerous conditions. It only requires Mitochondrial dysfunction.

    Perhaps there is no difference?

  17. Kev March 8, 2008 at 08:46 #

    _”Hi, Have no idea if Kev will let me post anymore.”_


    Why wouldn’t I let you post? You seem polite and I’m not in the habit of deleting comments just because I don’t agree with them.

    I have a set of personal rules I don’t like to see get transgressed but I always give 3 warnings and even then a commenter would at most get sin-binned for a week.

    I’ve only ever banned 3 people from here. These three were not interested in contributing to any discussion and thus were useless.

  18. passionlessDrone March 8, 2008 at 14:40 #

    Hi Joseph –

    Good stuff re: results of the biopsy. I may investigate it further. At this point, I’m not (nearly) smart enough, I guess; it seemed that in both quarters there were folks saying this was a genetically mandated condition, I’m still not sure we have evidence of that. But maybe thats in there as well if I do the extra digging.

    Thank you!

    Take care!

    – pD

  19. S.L. March 8, 2008 at 15:24 #

    To clarify, again, Hannah Poling has a mitochondrial DISEASE: Complex I & III (again, to read more please visit http://www.UMDF.org). I realize that the majority of people reading this case have not had the same studies done as Hannah. Without having gone to a consultation, read through a 20 page report, and discussed, in depth, the results of such tests with a physician, I know it may be hard to understand what all the terminology means. If you read more information on Mito I & III, and on oxidative phosphorylation disease (links above in my other reply–thanks Kev!), I think you’ll further understand the test results.

    When we are discussing the specifics of this case, it is very important to make the distinction that Hannah has a RARE disease, passed down from her mother as per genetic markers. Mitochondrial dysfunction is found in a much greater population than mitochondrial disease, and dysfunction does not mean one will be symptomatic. pD discussed SNPs, and his information is very helpful to consider as well. Most of us do not have a disease associated with mutations. Hannah’s genetic mutation was found years after her diagnosis of mitchondrial disease. It was the results of her spinal tap & biopsy which led to diagnosis.

    ALSO: Mr. Poling’s statement is that they do NOT feel that vaccines caused her mitochondrial disease (due to her mother’s test results). He does feel, that the vaccines caused her autism. However, his theory on this is that since Mrs. Poling is not autistic, then Hannah’s autism was not passed down from her (along with the mito disease). Mito experts will tell you that “autistic features” and even a diagnosis of autism can be found in people with mitochondrial disease (see umdf link above). I’ve written about this on my blog & there is some more information there.

    I’m not sure why Mr. Poling’s view are as such. One might assume that they are involved with DAN! Their lawyer, Cliff Shoemaker, certainly ascribes to them:

    Today, Cliff is one of the lawyers focusing his attention on the national disaster that occurred in the 90’s when we poisoned a substantial number of our children with mercury, creating an autism epidemic.

    On his site, you will find links to Generation Rescue, Autism Research Institute, et al.

    There have been several genetic markers found, believed to be associated with autism. We also see families who (vaccines or not) have more than 1 autistic child, also families with generations of autism. There exists far more scientific evidence to concur that autism is genetic, than that it is caused by vaccines.

    Mr. Poling’s argument would mean that either I have autism OR my child is not autistic. I am not diagnosed with autism, and my child is diagnosed with autism; my child had “autistic features” well before her 18 month vaccines, and was developmentally delayed before 6 months of age. DAN! folks will argue it was the vaccine given at birth, or at her first 2 well-visits, before 6 months. Again, none of those vaccines contained thimerosal (DAN! may argue a conspiracy, that our physicians lied and it was in our vaccines OR that it was “other toxins” in the vaccines, more unfounded, unproven propaganda). Also, because of her physical health issues, my child did not follow the typical vaccine schedule. Personally, I prefer to point to real science, and what the physicians (neurologists and geneticists, specifically) have to say: vaccines do not cause autism, and my child was born autistic, it was not something she “acquired” from a toxin, or anything else.

  20. Schwartz March 8, 2008 at 18:48 #


    Dr. Poling’s argument is not positioned as a sure thing:

    Quoting CNN:

    “The Polings were exploring two theories to explain what happened to Hannah. One is that she was born with the mitochondria disorder and the vaccines caused a stress to her body that worsened the condition. The other is that the vaccine ingredient thimerosal caused the mitochondrial dysfunction, Jon Poling said.”

    Do you have verification that she actually inherited a genetic Mitochondrial Disease? I can’t seem to find that data anywhere and I’ve been looking. Do you know which specific disease it is?

  21. bones March 8, 2008 at 18:53 #

    Nice job, S.L.

  22. Schwartz March 8, 2008 at 20:35 #


    I just listened to the Press Release by Dr. Poling, and your assumptions seem a bit misleading.

    1) There was no evidence that Hannah had any Mitochondrial Dysfunction pre-vaccine. This is confirmed by the case study, and the child showed no signs of any disfunction pre-vaccine (her growth rates with in high percentile ranges).

    2) There is no evidence that the Mito DNA mutation that Hannah has, played any part in her Mitochondrial dysfunction.

    3) Her mother also has the same Mitochondrial DNA mutation. However, the mother does not suffer from Mitochondrial dysfunction or from Autism. This means that unless you have specific evidence that the DNA mutation causes Mitochondrial dysfunction, there is no evidence whatsoever that the mutation is related to anything that occurred.

    You are clearly stating that the child had mitochondrial disease. I have found no evidence to suggest this at all — from the case study or from information in the press release.

    There is no evidence to suggest that the specific DNA mutation is even related to the dysfunction.

  23. Schwartz March 8, 2008 at 21:24 #

    For those who have read Dr. Novella’s commentary on this, his opinion has similar logic.

    Despite finding no specific information on the mutation he thinks is responsible, he feels that her Autism and the genetic mutation are not cooincidence and thus prefers the option that the specific defect is directly the cause of her Autism.

    It’s interesting that the argument that it isn’t likely coincidence he uses sounds a lot like a coincidence argument he readily dismisses: That mercury (being a neurotoxin, and is associated with mitochondrial dysfunction) had no effect in this case, and that the temporal association with vaccines is just coincidence.

    This is all opinion on everyone’s part. The irony grows.

    Dr. Poling himself appears to be the most scientific of the bunch.

  24. Ms. Clark March 8, 2008 at 22:46 #

    Well, Maybe Dr. Poling has a tiny bit of a conscience and a tiny bit of a scientific leaning… he decided against being a DAN! doc after all. He says he sees autistic kids in his practice, I wonder how many of them have a mitochondrial disorder like his daughter? hmmmm. And why is it only now that the slime-dog lawyers are going to have batches of their client’s kids tested for mito disorders?

    I think this is all a big grandstand stunt because the omnibus quack lawyers know that the evidence they have presented so far is totally **worthless** . I’m serious, it’s so bad it’s a joke… but the good news is that all the experts and lawyers involved will get paid.

    I think Mrs. Poling was fully aware that she was on camera performing a stunt that would help the PSC and other lawyers with future cases of kids with greedy parents looking to blame vaccines.

    And for those of you who are getting all snitty about “Hannah’s autistic-like behaviors”; blind kids have “autistic like behaviors,” Deaf kids get misdiagnosed as autistic based on their behaviors before their hearing loss is identified. Kids get misdiagnosed as autistic based on their behaviors. Hannah seems to me to be one of those. She looks to me like a child with brain damage.

    I think mamma Poling fell in with the antivax crazies and it suited her really well.

    Good grief who knows how much damage they did to this kid by chelating her and who knows what else per DAN! quack protocols.

  25. bones March 8, 2008 at 23:01 #

    Ms. Clark, I feel ya!

    I nearly spit my food across the room when Shoemaker, being interviewed on Larry King, stated rather matter of factly that he planned all along on presenting the mito theory in the OAP.

    Schwartz, would you expand on this, please?

    “That mercury (being a neurotoxin, and is associated with mitochondrial dysfunction)…”

  26. Schwartz March 9, 2008 at 00:12 #


    You obviously don’t understand the context of the observed irony — arbitrarily dismissing coincidence in some cases, yet accepting it in others, all in the same discussion.

    If you don’t understand, that’s OK. I’m not going to bother explaining other peoples’ arguments for you.

  27. bones March 9, 2008 at 00:17 #

    Schwartz, I merely asked you to elaborate on that point because you’ve alluded to it in the past. If you can’t, that’s fine.

  28. Schwartz March 9, 2008 at 02:02 #


    What did I allude to exactly? Please point it out the reference.

  29. Club 166 March 9, 2008 at 03:07 #

    Great job, SL!!

    If only some “professional” purveyors of the news would take some cues from you.


  30. passionlessDrone March 9, 2008 at 03:48 #

    Hello friends –

    SL – You are doing a good job diseminating information. I genuinely appreciate it. The specifics of complex I and III do get a bit detailed.

    I’m also a bit curious as to what evidence we have that the mother suffers from the same mitochondrial disease. Why is it that we only have one very vague SNP to reference? If the gentic link between mother and child is confirmed, why isn’t there a well known gentic marker available in these discussiosn? SL – Is there a specific gene disruption found in the mother besides the SNP?

    The other thing that really bothers me about this argument is that we are seemingly told again and again that it was the fever, resultant of the multiple vaccinations that caused the problems; if this is true, are we to assume that the child’s mother never had a fever? If she were to fall into a high fever tomorrow, what are the chances she would suffer development regression? If the real reason the child regressed was just having a fever and the mother has the same genetic flaw; why hasn’t the mother regressed?

    Perhaps getting a high fever during certain periods of development is critical towards acquiring ‘autism like symptoms’, for a specific subset of children, and fevers at a later stage are not as dangerous. If it wasn’t the fever that caused the regression, then what did?

    One thing seems sure; the child’s mother has nearly certiainly run a fever at one point. Why hasn’t her mitocondrial disorder caused the same reaction?

    Take care all!

    – pD

  31. Matt March 9, 2008 at 05:30 #


    You are clearly stating that the child had mitochondrial disease. I have found no evidence to suggest this at all—from the case study or from information in the press release.

    Perhaps the document posted on Mr. Kibry’s blog could help you some. Dr. Kelly at Kennedy Kreiger diagnosed the girl with “Mitochondrial PDD”. (ignore the spelling of ppd).

    Dr. Zimmerman, also of KK, stated, “Laboratory studies, however, strongly indicated an underlying mitochondrial disorder”. He also states that the child ” ‘had done very well’ with treatment for a mitochondrial dysfunction.”

    Lastly,the court document–which we have to assume is the one that the Polings agreed to as part of the settlement–states that the vaccinations “…significantly aggravated an underlying mitochondrial disorder”

    Given this, I am at a loss for why you are pushing the argument that this child may not have a mitochondrial disorder.

  32. passionlessDrone March 9, 2008 at 06:06 #

    Hi AutismDiva –

    “Well, Maybe Dr. Poling has a tiny bit of a conscience and a tiny bit of a scientific leaning… he decided against being a DAN! doc after all. ”

    I have decided against being a DAN doc. Does this mean I have a conscience and a tiny bit of scientific leaning?

    In any case, the notion that you can rightfully assess the scientific mastery of someone employeed at John’s Hopkins as a neurologist is, to say the least, lacking evidence. Presumably, if I were to assess the scientific learning of the director of the CDC in charge of vaccines, you would give me carte blanche to make blanket statements as to their knownledge, based soley on my ability to create internet content concerning a specific area of personal interest?

    “I think . . .”

    Speculative bashing.

    “I think Mrs. Poling was fully aware that she was on camera performing a stunt that would help the PSC and other lawyers with future cases of kids with greedy parents looking to blame vaccines.”

    Speculative bashing.

    “And for those of you who are getting all snitty . . .”

    The irony is so amazingly thick that you would choose this particular posting to accuse others of being snitty. R O F L!

    “She looks to me like a child with brain damage.”

    What reason do we have to take your evaluation more seriously than our own, or those of the government? Do you have some particular expertise in this area that might be pertinent? How much time have you spent with the child? Are you of the belief that diagnosis by TV viewing is a valid mechanism for reaching a diagnosis? I saw her, and my television based diagnosis is that she has autism.

    “Good grief who knows how much damage they did to this kid by chelating her and who knows what else per DAN! quack protocols.”

    Completely speculative. You seem to be quite quick to demand others provide evidence in a great number of other instances. Perhaps you have some to back up this particular speculation?

    – pD

  33. anonymous March 9, 2008 at 06:51 #

    “Good grief who knows how much damage they did to this kid by chelating her and who knows what else per DAN! quack protocols.”

    Completely speculative. You seem to be quite quick to demand others provide evidence in a great number of other instances. Perhaps you have some to back up this particular speculation?

  34. anonymous March 9, 2008 at 06:52 #


    “We also do chelation.”

    “Also, go to a DAN conference if possible. You will be much more informed if you can.”

  35. anonymous March 9, 2008 at 06:53 #

    But, yes, speculative.

  36. Ms. Clark March 9, 2008 at 10:01 #

    Yes, speculative, just like momma said that she was thought it was the thimerosal, whereas Zimmerman the child’s doctor thought it was the Pertussis part of the DTP, but it seemed to me to be the chickenpox that had caused the fever that might have precipitated the crisis.

  37. Ms. Clark March 9, 2008 at 10:37 #

    pD, my you seem to me to be exceptionally snitty for someone who intends to take me to task, implying that I am snitty. You wrote:

    “I saw her, and my television based diagnosis is that she has autism.”

    Ooooh, well, now I’m convinced.

    Is your point that people have no right to express opinions about people in the news?

    I am so thankful you never considered being a DAN! doctor, I hadn’t thought that you would ever consider doing that, but now that I know you wouldn’t I hold you in higher esteem.

    I think anyone who chooses to be a DAN! doc has a serious deficit in ethics and intelligence.

    That’s my opinion, which is why I began the sentence with “I think…” See how that works? Are you allowed to express opinions? Yes. Are you the only one who is? No, I can express my opinions, too.

    I also have the opinion that your addressing people as “friends” and signing off with “take care!” looks like a phony affectation. But maybe you really are that friendly.

  38. passionlessDrone March 9, 2008 at 14:50 #

    Hi AutismDiva –

    “Ooooh, well, now I’m convinced.

    Is your point that people have no right to express opinions about people in the news?”

    You have every right to express your opinion. I was trying to make the point that when it suits your purpose, you are quite critical of statements made by others that you believe are lacking in evidence; yet presumably, you’d like others to take seriously your television based diagnosis. You seem to have taken issue with my autism diagnosis. This is hypocritical. (In the interest of full disclosure, I’ve never seen the girl on television, but merely was trying to make a point.)

    “Are you the only one who is? No, I can express my opinions, too.”

    You are, of course, free to express your opinions. Do you have any opinions on why Mrs. Polling never experienced development regression, despite having the mitochondrial disorder she passed on to her daughter?

    “I also have the opinion that your addressing people as “friends” and signing off with “take care!” looks like a phony affectation. But maybe you really are that friendly.”

    Hm. Well, I am of the opinion that arguing with people on the Internet should never really get nasty; especially when discussing autism. I will admit to having a sarcastic side; but I do genuinely want everyone to take care. This includes you.

    Have a great day and try to spend some time thinking about something other than autism; and that goes for everyone out there!

    Take care!

    – pD

  39. bones March 9, 2008 at 17:26 #

    Schwartz, seriously man, I couldn’t have been more clear with regard to my question.

    Listen, I get it. Ok?

    You like to sit back and pick apart everyone’s statements w/out ever committing to an opinion of your own. That’s fine, seriously. However, I find it somewhat snakey cuz I’m not that breed of cat.


    Now, I asked you to expand on a point – a very specific request (ie, clarify for purposes of context). Where you’ve alluded to it in the past is irrelevant, at this point in time.

  40. bones March 9, 2008 at 17:32 #

    “What reason do we have to take your evaluation more seriously than our own, or those of the government?”

    Exactly, pD. The govertment stated the child was diagnosed with regressive encephalopathy.

    So I am still unclear as to why autism and thimerosal are still being tossed about.

  41. S.L. March 9, 2008 at 17:51 #


    What we were told is that fairly often, a child gets diagnosed with mito disease, and the mother subsequently gets tested and finds out she too has the disease and/or the “genetic marker.” Thus, for any additional children she might give birth to, a certain risk is established (based on the mutation, etc.), as far as passing the disease on to further children. Also, many siblings are found to have mutations but not disease, they are at risk for passing it on to their children and so on. In a sense, they are carriers.

    With regard to symptoms, regressions, or appearance of disease: In a family, you can have 4 people with mito disease, you can have a whole spectrum of symptoms and varying degrees of the disease. For some, problems develop shortly after birth, for other children it may be in their teen years, and still for others, they may be adults before they are diagnosed and/or the disease truly shows itself. Some people are going to be more sensitive to fevers, illness, etc. Obviously, based on what we know of Mrs. Poling, she is not affected to the degree of her child, hence no regressions or severe reactions to illness, etc.

    So, in this case, the child is more affected than the mother. Now, granted, we do not have the mother’s medical records. Does she have any heart issues? Migraines, seizures, etc? We simply do not know, but she very well could be having some issues related to mito.

    Essentially, if every person who had mito disease was affected in a more significant way, we would not have any mito disease (of this form); each potential “carrier” (those who have mito disease in this hypothetical) would either die young or not be able (for a myriad of reasons, physical or neurologically related) to have children. Hence, mito disease would be stopped (other than cases of which are not hereditary; something I’m not going to delve into here as this is not the case regarding the Poling’s).

    I encourage you to visit the UMDF site (links above), as they (and the other links I’ve posted) can be very helpful in further explaining the hereditary factor, spectrum of disease, etc.

    What’s left of the “argument” in this case, is that the vaccines caused this child’s autism. How or why they stated their two theories on national television, that they were still unsure if vaccines gave her mito disease is unbelievable to me. After consulting with their physicians, reading the test results, there is no science to back that theory, none!

    I wonder, and yes this is speculating, if they had to sign some agreements with their lawyers? That they were not allowed to come out and discuss mito. That would too quickly dismiss the remaining court cases.

    And, finally:


    I urge you, once again, to please read my article above, my replies in these comment, and visit the links I have listed (specific to mito). There is NO disputing whether or not this child has mito disease. I’m unsure why it’s not clear: it is black and white, when you read Dr. Shoffner’s results and the study done with this child. There is nothing there to speculate, and I’ve outlined this quite clearly.

    This is not “mitochondrial dysfunction” as some in the vaccine cases are now arguing. This is mitochondrial disease, quite a difference. Mitochondrial dysfunction is the new “catch phrase” following this court ruling, some now want to reclassify autistics as having “mitochondrial dysfunction,” and therefore have further cause to “treat” the disease. Many of us would be shown to have “mitochonrial dysfunction.” Pretty much anyone aging, or with diabetes, neurological diseases, heart or liver conditions, etc. Heck, if you tire easily during exercise or sweat profusely, you more than likely have some sort of mitochondrial dysfunction. In a study done in Japan, they saw mitochondrial dysfunction in people with bipolar. Again, this “dysfunction” happens to many of us.

    Some of us would benefit from certain nutrients. Many people with heart disease are advised to take COQ10, Vitamin E, and other supplements which are found in a “mito cocktail.” Anyone with mitochondrial dysfunction (most of us!) will feel better when on a balanced diet (eating fruits, veggies, whole grains, getting many nutrients from raw foods). Some may feel better taking various supplements.

    It is worth looking further into people with mito dysfunction and neurological or psychological issues. I am not disputing this. Perhaps various nutrients would benefit them, specifically associated migraines, neurological symptoms, GI issues. I often wonder if my own child’s (documented) mitochondrial dysfunction (NOT disease) affects her physical health, and if that could be helped by finding answers into these studies. I would not put my child on nutrients, without my doctor’s advisement and without studies done backing their effectiveness. Also, if I were to place my child on nutrients, it would never be to get ‘rid’ of her autism.

    At the core, you are still going to have depression or autism or whatever, when a study is over. Finding a connection to various diseases or conditions isn’t surprising, and ultimately doesn’t change much. A person with heart disease who takes nutritional supplements more than likely still needs various prescription medication, and they are still affected with heart-related issues. The mito dysfunction is interesting to scientists, but isn’t necessarily going to lead to any amazing breakthroughs, as this type of pattern is expected (by those who understand mitochondria, and its dysfunction). More studies may simply lead us back to genetics; if this MtD exists, and a specific marker can be found for autism (specifically one found in children who regressed AND those that did not, also with children who had vaccines, and those that did not–that’s a study I’d be VERY interested to see!), it would further prove that autism is genetic.

    I wonder if those who are excited about diagnosing their child with MtD and not autism have thought about that? Who to blame then? Their genes??

    There is an agenda behind the airplay this theory of autism as mitochondrial dysfunction is receiving:

    Obviously, this makes autism (which would now be known as MtD) a disease, to be cured and eliminated. Just what they want–for autism to be a horrible disease, that we can’t possibly accept. No acceptance of autistics, no support for autistic adults who need it. Many revel in that, and they are skewing the studies and what mito dysfunction really means, to further their views that autism is an inconvenience, which should be eliminated. Shame on those that twist and bend the facts, all to further their agenda.

  42. S.L. March 9, 2008 at 18:12 #

    “Do you know which specific disease it is?”

    Please re-read Dr. Shoffner’s findings in the case documents, also the subsequent study done (link I posted in this article) in which her diagnoses are again given. I’ve stated what disease she has several times, and their are several links in my comments above that may help you further understand them.

    For anyone unsure about the mito disease in this case, if you missed it:
    “A muscle biopsy test for oxidative phosphorylation disease revealed abnormal results for Type One and Three.”
    “Dr. Schoffner diagnosed CHILD with oxidative phosphorylation disease”

    I realize, if you or your child has not been through this testing process, has not sat with Dr. Shoffner to discuss your biopsy testing and results, studied up on a disease you or your child may have, and read a 20 page report of results, the facts of this case may be harder to digest. The terms “Type I,” “Type II” and “oxidative phosphorylation” may not mean too much. That is why I really suggest reading up on this on UMDF’s website, if you go to the DISEASE description page, there’s the info you need. “Type I & III” is also known as “Complex I & III,” so that is what you’ll want to read up on.

  43. Ms. Clark March 9, 2008 at 20:34 #

    Passionlessdrone wrote: “yet presumably, you’d like others to take seriously your television based diagnosis. You seem to have taken issue with my autism diagnosis.”

    I expect people to give my opinion the weight it deserves, which is slightly higher than the weight they should give your opinion because I am using my real name and because I have spent time studying autism, merely as an undergrad, but recently, and I discuss autism regularly with PhDs and MDs. That means my opinion is still not worth much, but I think it’s worth something. I think your opinion is worth far less since you haven’t even seen Hannah on TV.

    I believe Hannah regressed. Do you understand that not everyone who regressed developmentally is autistic? Hannah looked to me like a kid with more generic brain damage. If a kid were to get in an accident and get brain damage he might have traits of autism. And as I said, kids DO get misdiagnosed with ASDs, even by professionals. You might want to brush up on information on misdiagnosis in autism before you decide to take me to task using your finely tuned passive-aggressive-appearing, supercilious attitude.

    As for what I spend my time doing, honey, I have a quite disabled ASD kid with serious concomitant health issues (who only has me to do the daily care tasks plus the housekeeping and bill paying and grocery shopping and doctor’s appointments) and I have a grown NT kid who looks to me for conversation and advice from time to time, an elderly mother and friends that are part of my life off line. Thank you for asking, though.

    Hannah Poling’s parents need more than a pass for being parents. They have some suspicious association with DAN! quackery that needs to be answered for, they may have harmed her with unproven treatments which may have kindled her seizures. Maybe not, but I think they need to answer some more questions before I take their word on things like what Hannah was really doing and when.

  44. Rob43 March 9, 2008 at 22:00 #

    Hi, I do thank you all for posting the information on mitochondrial disease. My first question is what part of the title of Journal of Child Neurology article about this child’s case in unclear. Here it is, for those who have forgotten: (Developmental Regression) and (Mitochondrial Dysfunction) in a (Child With Autism). The child has autism, diagnosed at Johns Hopkins CARDs center, she has a mitochodrial dysfunction diagnosed by a premier doctor in the field using the gold standard of live muscle biopsy, that is manifested as Oxidative Phosphorylation Disease, oommonly referred to as OXPHOS disease, and which is NOT labled on the chart of Mitochondrial Diseases, but is correctly labled a dysfunction or disorder. Then she had a developmental regression, the cause of which is under investigation by the parents and researchers.
    If you have a child with autism, your health insurance doesn’t recognize it as a treatable disease or provides limited assistance, and no one else offers you any real help, where do you turn. This is a crisis for more than 250,000 families right now. Perhaps you think too many vaccines at one time with whatever other preservative are in them may have had some causative effect, which is the parent’s view, you are compelled not to go to civil court, but the government demands you join one of the thousands sitting for years in something called vaccine court. Heaven help you if you don’t get a diagnosis and then apply within 3 years because then you can’t appeal for a hearing to the vaccine court that Congress established with its own special rules.
    I wouldn’t be too hard on parents either, going to look for answers back when they didn’t know what was happening to their child with the symptoms presented. They described truely unsettling behaviours in this case of screaming for long periods, falling down, back arching, not walking, etc., the pediatrian and doctors say its just a reation to the vaccines and transitory, but it doesn’t go away, and then finding out its likely autism or PDD-NOS or whatever they feared might be happening that they were learning about in bits and pieces. Yes, back then in 2000-2001 I would have even gone to the point of looking at the DAN! stuff. There weren’t many places then where you can get any hope of useful treatments that might reverse the ASD dysfunctions, yet these parents appear to have tried hard and to have succeeded somewhat– in that the child in now considered to be in the “middle of the spectrum” where she was once in the severely disabled part of the spectrum. What do you all think? Is there something here I’m missing?

  45. S.L. March 9, 2008 at 23:11 #

    Ah, I think I get why there is some confusion. The use of OXPHOS, and the important piece you are missing:

    “A muscle biopsy test for oxidative phosphorylation disease revealed abnormal results for Type One and Three.”

    That last part, Type One & Three. Reading about OXPHOS and defects in I, II, III, etc. is very key here. For one, you will see how the symptoms this child presented with are common in those Complexes. Second, it is easier to come to terms with the fact that this child, as per multiple tests, does in fact have mitochondrial disease.

    I am trying to post some more info, with specific information on OXPHOS, and the complexes, it’s not working again. Will get it up here a.s.a.p.

  46. S.L. March 9, 2008 at 23:26 #

    Better detail on the testing & diagnosis (carefully read):

    In this chapter the biochemical diagnosis of OXPHOS disorders is presented. The laboratory investigations in suspected patients are started with the examination of body fluids. The most important metabolite to be measured is lactate, that is frequendy found to be elevated in blood, urine and cerebrospinal fluid of patients with OXPHOS disorders. The next step in the diagnostic procedure consists of the examination of tissues. The biochemical diagnostic investigations are preferably performed in muscle tissue because in most patients the defect is expressed in muscle. Biopsy material is preferred above autopsy material. Biochemical examination of a fresh muscle sample is to be preferred because mitochondria are intact in fresh muscle thus allowing measurement of the overall oxidative capacity of the mitochondria. In a frozen muscle sample only enzyme activities of the OXPHOS complexes can be measured. In the latter case patients with a disturbance in the oxidative phosphorylation not localized in one of the OXPHOS complexes remain undiagnosed. Practical guidelines for the biochemical examinations of muscle are provided. In certain circumstances it is necessary to examine also fibroblasts. This is an absolute prerequisite in case prenatal diagnosis is requested. The interpre-tation of the biochemical investigations is discussed with special emphasis on the observed residual enzyme activities.

    (Source: http://www.springerlink.com/content/w861473675428370/ )

  47. S.L. March 9, 2008 at 23:34 #

    Defects in the OXPHOS system result in devastating, mainly multisystem, diseases. Among the different groups of inborn errors of metabolism, mitochondrial disorders are the most frequent, with an estimated incidence of at least 1 in 10,000 live births. Although the terms “mitochondrial disorder” or “mitochobdrial diseases” are very broad, it usually refers to diseases that are caused by disturbances in the mitochondrial oxidative phosphorylation system (OXPHOS).


  48. gwynfryn March 9, 2008 at 23:40 #

    Quoted: S.L. on March 7th, 2008 20:44:02

    Thanks!! And, I second that challenge!

    Thank you for that information. I am going to have to look into some of the writings you mention, as I am unfamiliar with some. end quote:

    Regrettably, SL, I find that even on my own PC (hacker territory) I can’t provide such links as would be helpful to you (I have the links; I just can’t copy them to you here) or any others who can think beyond the orthodox. Still, why not try inventive googling, of the kind “gwynfryn autism”?

    Else use my gwynzkind@yahoo.com.uk address? I will pass on my copy of the Humm guide to anyone who gives a shit!

  49. gwynfryn March 9, 2008 at 23:42 #

    Bugger, it should have read gwynzkind@yahoo.co.uk OK?

  50. S.L. March 10, 2008 at 00:25 #

    The defects in Types I & III, as per Dr. Shoffner’s test results, refer to the Complexes I & III, of the OXPHOS system.


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