Thursday, 25 October 2012

More Answers=More Questions

Ughh.  When it rains it pours on my happy little "I can handle autism bubble".  Grrrr....

I have been chasing one of the boys' doctors for weeks, trying to find out if he has the results of all of the labwork we did after our last visit.  I didn't necessarily need to have the results, just wanted to make sure he would have them in hand at the appointment we have the first week in November.  I have never worked with a doctor who comes to the phone when you call.  He sat looking through their charts himself.  So I still don't know if he has everything- I really wanted to know if he had the results from the hair samples I sent off.  He was still looking and was going to call me back later this afternoon- just like 2 weeks ago.  Frustration is mine.

Anyway, while he was looking for those, he happened to pull up some other tests that we did and said, oh I see that both of the boys carry one genetic mutation.  Casually like that.  Hey buddy, this is kind of big news for us, care to elaborate a bit more?  So then he told me that the mutation has to do with the way their bodies metabolize vitamin B12 and folic acid.  And then he said he would call me later.  And that was it.  Now mind you, I was already freaking out because of poor Jack's experience at school today, so I don't know that I was emotionally equipped to take this in right now.  Swear to God that I was having palpitations.  Genetic mutation?  That sounds scary.  Oh Google.....

I googled folic acid and genetic mutation.  Thinking maybe it's rare, maybe I won't find anything and I will just have to wait for our appointment.  That's NOT what happened

The mutation is called MTHFR (and I find that extremely appropriate)  Ready??

"MTHFR is a common genetic variant that causes a key enzyme in the body to function at lower than normal rate.  This can lead to a variety of medical problems, when people with MTHFR are exposed to more toxins than their bodies can handle."

"The worst combination is 677/1298 in which you are heterozygous to both anomalies.  Many chronic illnesses are linked to this anomaly.  98% of autistic children have an MTHFR anomaly.  Fibromyalgia, irritable bowel syndrome, migraines, are all conditions associated with MTHFR anomaly." 
"MTHFR can make you susceptible to illness because the pathway is the primary source of glutathione production in the body.  Glutathione is the body's primary antioxidant and detoxifier.  People with MTHFR anomalies usually have low glutathione, which makes them more susceptible to stress and less tolerant to toxins."  

Well smack my ass and call me Sally!!!!!  My husband has crohn's I have migraines.  My whole family has migraines.  Hmmmm....

Treatment consists of simple vitamin supplements --- FolaPro L-methyl tetrahydrofolate by Metagenics, OR, 5 tetrahydrofolate or methyl folate.
Longevity Plus, H.R. T. Plus with 5-tetrahydrofolate.
Life Extension, optimized folate (5-MTHF).
OR prescriptions like:
*Deplin/ 7.5 mg l-methylfolate 
*Metanx-L methyl folate calcium (as Metafolin) 3 mg, Pyridoxal 5` phosphate 35 mg, methylcobalamin 2 mg. 
Methyl B-12 injections
The vitamin supplementation is lifelong.

We have already taken some first steps down this road- which tells me that this must have been suspected (not exactly rocket science when 98% of people with autism have this mutation).  We have Nate on Methyl B-12 injections.  We have him on folinic acid.  This is folic acid that has already been partially broken down.  However, if he is not able to break it down from this point then it serves no purpose.  It is very likely that he will need methyl folate.  So that is my first question at our appointment in November.  Frankly, since this is Dr. sink spitter as all of my readers have come to fondly refer to him, I am tempted to call him between 7 and 8 am tomorrow, but I don't want to abuse his willingness to go above and beyond..  Hopefully he will call me back about the other labs and it won't be an issue.

So I feel like this should be being discussed a bit more in general?  Is that unreasonable?  98% of people with autism?

For instance:
Molecular Aspects of Thimerosal-induced Autism
The developmental disorder autism has both genetic and environmental origins, and its forty-fold increase during the past two decades reflects an increased role for environmental factors. It has been proposed that increased use of vaccines containing the ethylmercury derivative thimerasol is the major contributing factor. Published research from my laboratory has revealed that thimerosal is an exceptionally potent inhibitor of biochemical pathways that transfer single carbon atoms between molecules. These “ methylation ” pathways are critically involved in several important functions including the regulation of gene expression and the molecular mechanism of attention. Recent studies from my lab indicate that thimerosal exerts its toxic effect on methylation by interfering with formation of the active form of vitamin B12, also known as cobalamin. Dietary B12 must be converted to methylB12 (methylcobalamin) in order to assist in the transfer of single-carbon methyl groups from the folic acid pathway by the enzyme known as methionine synthase. By reducing methylB12 formation, thimerosal inhibits this enzyme and thereby interferes
with methylation events. Autistic children have abnormal plasma levels of methylationrelated metabolites and exhibit higher frequencies of genetic mutations that affect this pathway. These genetic risk factors make them less able to detoxify thimerosal and also increase their sensitivity to its mechanism of toxicity. In many cases, autism can be effectively treated by the administration of methylB12 along with other agents that augment methylation capacity. Taken together, these facts indicate that increased exposure to thimerosal has combined with genetic risk factors in a sensitive subpopulation to cause the recent rise in autism.”

Folic acid fortification started heavily in 1992.[2]
Autism began to quickly rise in 1993′s.
In the early 1990s, autism diagnoses began to soar. In the 10 years between 1993 and 2003, the number of American schoolchildren with autism diagnoses increased by over 800%. In 2006, the CDC noted a slight decrease in the number of new cases diagnosed.[3]

Autism began to rise at the same time folic acid fortification began.
Is the rise of autism due to an increased survival rate of babies with MTHFR defects?
Countless children with autism have at least one bad allele of MTHFR – and many have two. Amy Yasko has yet to see any child with autism without a bad MTHFR allele. If you have – please correct me. [Amy Yasko's book]
Are we doing the right thing in ‘optimizing pregnancies’ when in the end, we are actually creating weakened genetics and having babies born with various genetic mutations that cause them to have serious medical conditions later in life – or early on.
Folic acid supplementation while pregnant is old news.
Women need to supplement with L-5-MTHF and Folinic acid – not folic acid.

OK, I am throwing a lot of stuff at you.  Bottom line is this stuff makes scientific sense to me.  Consider my interest peaked and my research hat on.....more later


  1. Good God! I think my head just exploded.

  2. I feel the same way as an OT as well. Just when I think I know a lot about autism (at least relative to a lot of my OT peers), I realize I still got lots to learn. Sure, using my personal experiences and OT knowledge is already a good start. But, reading blogs like yours and others on the autism spectrum make me realize that there are LOTS of things that I take for granted (because the symptoms are non-existent or relatively minor.

    Then, because of what I am passionate to do, I needed to translate any new knowledge I find into OT terms. So, my theories about autism are constantly changing with any new significant piece of information I find.