Monday, February 27, 2012

Genetics: The Trump Card

The more I learn about my health, the less Lyme seems to be the main offender. Lyme, a.k.a. borrelia, is currently being stripped of his throne-wielding notoriety and being lowered on the list to say, the king's youngest brother, in this multi-lateral labyrinth of a castle that houses my health.

Earlier this month I added borna virus, rickettsia, XMRV and nasal staph (MARCoNS) to my seemingly infinitely-growing list of official diagnoses (see side bar at right for full list). But it's the latest realization that fascinates me the most — perhaps due to its deep-in-my-fiber unflappability, or its powers of pre-determination: my genes play a major role in this whole mess.

Yes, you heard me. My genes; my DNA. Obviously, you are each the product of both of your parents' genes. Whether you like it or not, their DNA came together to create you, and that DNA is powerful enough to dictate your likelihood of many things, such as excelling at math or arts, gaining weight, or acquiring a certain disease. In the argument of nature versus nurture, nature is certainly the heavyweight to which nurture must be tailored in compliance and with strategic forethought.

In short, I've just learned I was born with a high likelihood of developing what are coined "
multifactorial diseases" (Amy Yasko, Ph.D.) and "biotoxin illness" (Ritchie Shoemaker, M.D.). Certainly, I could have — and should have — tailored my environment and diet while growing up, but instead worsened my toxic burden with poor lifestyle choices.

There comes a point in a chronically ill person's pursuit of health when genetics should be factored in for their power to solve health mysteries, or steer that person in the right direction, especially when notable progress is slow to be seen. In my case, the genetics results are astounding — though not entirely surprising.

Here are the details. I recently had two types of genetic profiles made up from my blood: The Dr. Shoemaker HLA tests for Lyme and mold susceptibility, and the Amy Yasko Methylation Panel. 

Shoemaker DNA Testing

I've tested positive for Shoemaker's DQB1-3 genes that mark susceptibility to both Lyme and mold infections — and in the case of mold, I have three separate genetic predispositions to mold sensitivity/intolerance. Apparently, the "Lyme-susceptibility" gene and "mold susceptibility" gene have some overlap or opportunistic attraction to each other, so a lot of Lymies have the mold-susceptible gene. And when they live in moldy houses and eat moldy foods (i.e. cheese, bread, mushrooms, berries, beer) they won't respond to Lyme treatment. These genetically-predisposed people (myself included) generally have a hard time detoxifying their bodies of toxins in the way that healthy people naturally do via their lymph, kidneys, liver, skin — giving way to the term "biotoxin illness".

Scott Forsgren, a prominent expert on biotoxin illness and follower of Dr. Shoemaker's work, writes, "Some [genotypes] are susceptible to mold biotoxins while others are susceptible to Lyme biotoxins while still others are susceptible to both mold and Lyme biotoxins in what is termed a 'multi-susceptible' genotype. If the HLA DR test results in a combination that suggests any of these, it is time to better understand the 'Biotoxin Pathway' and possible treatment options. ...If a person is genetically susceptible to a biotoxin-associated illness, it is likely the case that
the biotoxins themselves, rather than Lyme infection or mold exposure, are causing many of the symptoms being experienced. Even further, it is plausible to suggest that infection could be cleared, or the exposure entirely removed, and yet the remaining symptoms may be almost entirely due to circulating biotoxins. It comes down to a genetic predisposition which results in the body’s inability to remove these biotoxins. Long after the initial exposure or infection is gone, the toxins may live on. Understanding that core idea alone is profound!"

He continues, "There are specific genotypes associated with specific susceptibility to biotoxins. For patients with Lyme disease or mold exposure, approximately 25% of the population has a genetic predisposition which results in an inability to clear biotoxins naturally. Understanding whether or not one is in this population can provide key insight into the cause of illness. Though the result may suggest a genetic make-up which cannot itself be corrected, once known, specific interventions can be put into play that may significantly improve the outcome. ...For these people that are genetically incapable of clearing these toxic substances, biotoxins will continue to circulate within the body indefinitely and may reduce one’s chances of recovery. There is generally no 'selfhealing' in these cases without appropriate interventions."

Dr. Shoemaker's original research is a bit more technical: "
Mold illness is essentially identical to Lyme in symptoms and chronicity. This observation is critical to understanding why some Lyme patients just don't get better with antibiotics... Mold illness doesn't get better with antibiotics. [You should] start with genetics, move on to loss of regulation of inflammation and then to the effects of unregulated inflammation (including silent colonization by commensal bacteria living in biofilms). Finally, correction of T regulatory cell abnormalities must occur before return to normal health can be claimed. In the end, if the inflammatory elements that are invariably abnormal in Lyme and mold...aren't identified and corrected the patients won't get better."

He goes on to say, "In the general population, the incidence of... mold susceptible haplotypes is 25% and for Post-Lyme susceptible is 21%. ...When a patient continues to experience illness symptoms and is shown to have genetic susceptibility, it is mandatory to understand that defective antigen presentation is ongoing and that production of a protective antibody/ies is NOT happening. ...There are inflammatory parameters that must be corrected in order for mold patients and Lyme patients alike to return to health."

Under the guidance of my LLMD, I will soon be heeding Shoemaker's advice and treating my biotoxin/mold illness with Cholestyramine, but first I will start the Amy Yasko methylation protocol, as outlined below.

Yasko DNA Testing

Like Shoemaker, Yasko provides DNA testing that examines the concept of toxic overload — but her special focus is on autism (as a lot of research supports the prevalent theory that autism is caused by a heavy toxic burden, ranging from infectious agents and viruses to heavy metals). Her protocol has worked wonders for scores of autistic children. In addition to those with autism, a lot of Lymies and chronically ill/fatigued people rely on Yasko's DNA testing to determine what is wrong with our "methylation" cycle and how to fix it.

Yasko defines methylation as a process that is "needed to silence viruses, to myelinate nerves, to make new T cells (so that we are not making auto antibodies, to respond properly to infectious agents and to reduce allergic inflammation), to make new DNA (i.e. to repair the gut lining), for neurotransmitters, for DNA regulation, detoxification of environmental toxins and the list goes on. It is critical to support any mutations in the methylation pathway so that it will function properly." When a person's body does not methylate properly, simply put, "Toxins come in but they don't go out. Instead they accumulate."

The Yasko Methylation Panel checks thirty genotypes and reports specifically where mutations are present among them. A heterozygous (single) mutation means that one allele is mutated, meaning one parent passed on the mutation, and it can present mild to moderate problems with the methylation cycle. A homozygous (double) mutation means both alleles are mutated, meaning the mutation was carried by both parents, and its problems and symptoms can be rather severe.

Of the thirty genotypes, I have eight heterozygous mutations, and two homozygous mutations. The most severe of my mutations — the homozygous — are called
MAO A - R297R and MTRR - A66G. The other eight that turned up (heterozygous) are called COMT - V158M, COMT - H62H, VDR - Taq, MTHFR - C677T, MTRR - 11, BHMT - 2, BHMT - 4, and lastly, the one nobody wants to have, whether it's homozygous or heterozygous, the dreaded CBS - C699T. The other twenty were normal.

I will elaborate on a few, but not all, of these.

The last one, CBS - C699T, requires treatment before the others, so methylation stays in a state of disrepair until this is properly addressed. I am certain I inherited this one from my father, who cannot tolerate sulfur or sulfa drugs — as Yasko writes, "Sensitivity to sulfur products and sulfur containing antibiotics is often symptomatic of this mutation. A constant state of flight or fight as a result of chronic high levels of sulfur can also cause sympathetic versus parasympathetic overload. This cortisol response has a wide range of secondary effects in the body, including changes in magnesium/calcium, decreased levels of serotonin and dopamine... [and] blood sugar issues." (My sister also cannot tolerate sulfur/sulfa. Thank you, CBS mutation, for helping us understand why.)

One of my homozygous/double mutations is particularly telling: "MAO A R297R is involved in the breakdown of serotonin in the body. Like dopamine, serotonin is another neurotransmitter in the body. It is involved with mood, and imbalances in serotonin levels have been associated with depression, aggression, anxiety and OCD behavior. Since Mao A is inherited with the X chromosome and is considered a dependent trait it may not show standard inheritance characteristics in males. Since the X chromosome in males can only come from the mother, this means that the fathers Mao A mutations (or lack there of) does not play a role in their son's Mao A status."

That particular mutation, in conjunction with neurological Lyme disease, could explain why the worst symptom I have is related to mood and anxiety. This could also explain why my serotonin levels routinely come back from the lab as undetectably low. And the part about the X chromosome could explain why my sister and I have far more severe psychiatric problems than our brother. But, to be perfectly honest, it's really, incredibly difficult to differentiate between the many psychiatric-related illnesses, infections and mutations I possess. The
borna virus, which I also have, is almost entirely psychiatric in nature. So I can't begin to postulate which of my ailments is the most responsible for my social anxiety, situationally induced panic attacks, mood swings and baffling phobias.

One thing I can say with confidence is that psychiatric illnesses are definitely not "in our heads". Depression, bipolar disorder, schizophrenia — they are being linked to either infections of the brain or genetic mutations more often than ever before. I wish more people understood that.

My two heterozygous COMT mutations (V158M, H62H) may play a role in some of my earliest behavioral quirks. Until high school, I was an eager-to-please, hyperactive child. Apparently COMT's "primary function is to help to break down dopamine. 
Dopamine is a neurotransmitter that is recognized for its role in attention, as well as reward seeking behavior. Dopamine helps to cause pleasurable feelings that aid in reinforcing positive behaviors and motivating individuals to function in certain reward gaining activities. COMT is also involved in the breakdown of another neurotransmitter, norepinephrine. The balance between norepinephrine levels and dopamine levels has been implicated in ADD/ADHD; in addition, dopamine levels are important in conditions such as Parkinson's disease. COMT is also involved in the proper processing of estrogen in the body."

Lastly, my MTHFR and MTRR mutations both lead to high levels of homocysteine, which is responsible for a wide range of inflammatory conditions, including heart disease and Alzheimer's disease.

In conclusion

It's fascinating to me that independent of any infections or diseases I may have acquired in utero or as a small child, my genetics predispose me to Lyme disease, mold intolerance, toxin buildup, inflammatory conditions, and mood imbalances. Since these predispositions significantly increase the likelihood of a person acquiring a specific disease in their lifetime, it takes far more effort for a genetically susceptible person to avoid certain illnesses through their lifestyle choices than it does for a not-susceptible person. But I didn't know that while growing up. In retrospect, I can see how my lifestyle choices — mainly a poor diet heavy with "fake" foods and sugar, unsanitary conditions and a bad habit of touching animals on several continents — have invited babesia, borna virus, mycoplasma fermentae, XMRV, candida and several types of worms to thrive in my body.

Furthermore, while Lyme disease is certainly a serious health matter that should never be ignored, I can now understand (thanks to Shoemaker and Yasko's research) why I've had a hard time recovering from Lyme. I've spent the last year on a valuable protocol that kills the Lyme spirochete, balances my thyroid and adrenal hormones, kills the parasites and viruses which are co-infections of Lyme, heals my gut, and detoxifies my organs to some extent. All of that has been important and will continue to be a part of my treatment.

But now I know my detoxification strategies barely scratched the surface because of an overload of biotoxins, mold, and a broken methylation cycle. Now I need to bring out the big guns. Shoemaker and Yasko both offer excellent and proven ways to bypass genetic mutations related to biotoxins and methylation — in short, they include cholestyramine, RNA drops, methyl-B12, folates, and glutathione. But I won't get into the treatment in too much detail. This blog post is already long enough to be a novel.

Knowing my genetic weaknesses empowers me in another way, too. If I should choose to reproduce, I will definitely ask my partner to have these genetic tests performed, because there is a very real and frightening chance that I could have a child with autism, Down's syndrome, Lyme disease and more — all dependent upon whether my mate shares some of my mutations. I guess it would be wise to pursue this early in any relationships that I see as potentially heading in that direction, since certain mutations would be absolute deal-breakers. I know that's sad. And I also realize that some of you might think that's taking it too far — love and compatibility should be enough, and I should let God do the rest. I understand that mentality, but I don't work that way. I absolutely want to be as smart as I can to lower my risk of having a child with autism or Down's syndrome, as I come from the school of thought that
knowledge is power. Now that I have it, I can use the knowledge of my genetic mutations to my advantage.

In any case, adoption appeals to me more every day.

What else can I say? My parents' genes came together to produce some scary abnormalities, but my genetics aren't all burdensome. Thanks to my genes, I'm tall; my bones are denser and stronger than most people's and therefore don't break easily; there's no breast cancer in my family; and I have my mother's ability to write well and my German family's musical talent. That counts for something, too.

I hope this entry has been educational and even helpful to fellow Lymies who've hit a wall.


  1. Thanks so much for posting this. I just started seeing a Dr near me that studied with Dr Shoemaker since 2003. I just had the bloodwork done and some other tests and will see her next week to get her evaluation and recommendations. While I am not nearly as far along in my understanding of her approaches as you are I have to say that there is very little science regarding Lyme and Babs that really makes any sense. The inconsistencies in testing and treatments make very little sense. What really got me thinking lately is that there are so many people with multiple family members sick. Like Mothers, Fathers and more than one Child. Are we really supposed to believe that each one was bitten by an infected tick at the same time? Yet there is no science that it is contagious or hereditary. Like I said - there is just way too much that makes little or no sense so it makes sense to me that the answers will be somewhere else where it all does make sense. Thanks Leila Gary Glaser

    1. Dear Gary,

      Can you tell me who this Dr. is who you are seeing since I have the dreaded geneotype as well the 15-6-51 for ex. Thank you.

  2. You've missed one of the most important factors : Vaccination history. The inflammation response and resultant cascade can lead to the genetic switching and your entire clinical picture. The rest is just icing on the microbial cake your Highness. -Your number one fan

  3. Just yesterday I got my blood drawn for the HLA-DR test. I passed the VCS test online but that doesn't mean much. I'm actually hoping I'm positive for this gene since there is a treatment for it. I wish the best for sure are digging deep and I hope you find the path to wellness.

  4. Excellent and informative post! Thanks so much for sharing and I hope you recover well with the Yasko protocol and more :)

  5. I would ignore Yasko's advice regarding the CBS polymorphism. I have the CBS issue as well, and found out through a lot of research that it isn't as "dreaded" as one is first led to believe.

    Most all researchers and autism experts like Rosemary Waring, Jill James and Susan Owens, just to name a few, completely disagree with her CBS hypothesis, especially her claim that sulfate is toxic. SulFITE is, but not sulfate.

    Also, Rich Van Konynenburg and Neil Nathan M.D.'s study showed that even those who had the CBS issue recovered or restored their methylation without having to address it using Yasko's restrictive rules. Rich also says that adults with CFS/lyme/autism spectrum disorders should not reduce their protein too much.

    Finally, keep in mind that healthy people have many of these genetics as well. As "anonymous" posted above, the factor that turns on this genetic expression is the environmental toxins one is exposed to.

    1. Jeff-- what is the advice you have learned to deal with the CBS mutation?
      Thanks for the article, it was very informative!
      I have some psychological and obsessive compulsive (intrusive) thoughts at times and it's prbably due to my shitty genetics :(
      I suffer thyroid and Adrenal problems mainly... but that's enough ;)

    2. Jeff, how do you fix the methylation defects....we see a doc in Neil Nathan's practice....put my son on lose dose Famvir for a year to fix a defect and it did not I am starting to look into Yasko....but would like to hear whether it is helping a lot of lyme-sick folks or not before the time & money investment.....

  6. HI Leila! Thanks for sharing this information! Very well written. I have been on a very similar path, with integrating Yasko, Shoemaker, and PK protocol. I would recommend looking up Patricia Kane's work if you haven't already. It seems that she is also along the path of discovery re:biotoxin illness, but with some more treatment tools in her arsenal. The work done with Acumen labs seems promising... Finally, Dr. Shoemaker's work has also been picked up by Dr. Klinghardt, as he has created homeopathic remedies for the neuropeptides Sheoemaker writes about in Surviving Mold: VIP, ADH, OXY, soon to be MSH, and finally, GcMAF. Klinghardt's homeo-K line comes from Biopure eu site. Tracy

  7. Hi Leila, I have exactly what you have unbelievably. Can you please share what your protocol for healing is? thanks so much

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