Methylation, Gene Mutation, and 23andMe – Oh My!

Sometimes I wonder….. how much longer am I going to be falling down this darn rabbit hole?!!!?

And I guess the answer would be….until I know WHY these things are happening to Anthony. I just can’t be satisfied.  I need to find out that deep down reason for why he has had to experience all his medical issues.  And with the latest test results, we are that much closer.

Yes, yesterday I received Anthony’s 23andMe test results.

My head is spinning with all the info I see.  From the very fun info, such as Anthony has a better memory than the typical person.  The cautious information, like Anthony is oversensitive to epilepsy medication, and should never take an iron supplement.  To the shake my core information like…..

Anthony has 3 homozygeous (2 copies)  gene mutations…

Ironically which are not the MTHFR gene mutation.

He has CBS and BHMT mutations.  Which in the simplest of terms means one thing…. Sulfur is BAD for him.  VERY VERY bad!! Mainly because his body can not process it like normal.  Also B6 supplements and chelators like a-lipoic acid (thank God we never did it!) , NAC, DSM, chollera, milk thistle…. not good for these genetic mutations.     Here is a great website with some good information on the matter.

I think back to the Summer of 2012 when we tried doing a liver detox, and how bad Anthony reacted to it.  The “gentle” epsom salt baths made Anthony incredibly hyper.  Liver Life and NDF + were making Anthony  irritable.  His OCD was flaring so bad. The worst I had ever seen it.  We pulled the detox plug and things started to settle down.   But I wondered why such a bad reaction to gentle products?

I think back to the Fall of 2011 when we put Anthony on Kirkman’s Super Nu-thera multivitamin.  Which is very high in B6.  Something many kids on the autism spectrum need….. but Anthony got very hyper with it.  He even started having apnea in his sleep and snoring horribly loud.  When I finally put two and two together, we took him off of it.  He calmed down, and no longer snored loud or had apnea.  From that moment on I knew B6 was not for Anthony….. but why?

My brain is forever asking why……

Well, now I know……

With these mutations the following happens,
“While sulfate is less toxic than is sulfite, it will stimulate the adrenergic (fight or flight) limb of the autonomic nervous system and stimulate a cortisol stress response, revving you up into an unrelenting biochemical overdrive.”

No wonder Anthony can seem so anxious……. part of me wonders if this has anything to do with the PANDAS diagnosis we got a year ago?

So while my head is spinning, I’m trying to find the silver lining in this matter.

And that would be, I finally had the “instruction book” on Anthony.  I’m also taking comfort in the fact that Dr. Sletten has had Anthony on TMG for the past 3 years.   TMG is fantastic for these mutations.  We also have Anthony on  phosphtydlserine which is also good, and CoQ10 which is also needed with these mutations.   These test results also tell me why Anthony had such a miraculous reaction to TMG supplementation.  His body needed it badly!!  I hate to think where Anthony would be right now if it wasn’t for TMG.  If TMG was a person, I would be hugging him/her so tight right now.  In my eyes it saved Anthony!

I’m waiting to hear back from Dr. Sletten on the next steps.  I know we are going to have to make another giant change with diet, and do low sulfur foods. I’m going to have to start monitoring Anthony’s sulfur levels (pee sticks) weekly in the beginning to make sure we are on track.  To be honest,  I’m not looking forward to it. As I know how overwhelming it is going to be.  But it needs to be done.  I will not ignore this on-going medical issue, just because it is going to be difficult for me for a little while.

I’m sure as I learn more about all of this, I will share with you.  But right now, I’m feeling like I just need to research, speak with our biomed doctor, and make a plan.   Wish us luck!

If anyone out there has experience with CBS and BHMT mutations, I would love to hear from you.  Leave me a comment below.  THX!

10 Responses

  1. geneknot
    geneknot September 26, 2013 at 1:37 am | | Reply

    What a great story! I'm running a community website to find people with similar genetic risk with 23andme data. One of our users has mutations in CBS, MTHFR, VDR etc, and Multiple Chemical Sensitivity. I hope that we can share our experience to understand the symptoms like Anthony's. If you're interested in, please join You can join with an anonymous user ID for your data privacy. Please let us know if you have any questions (contactgeneknotcom). I'd really love to help you. Wish you all the best.

  2. Brandi W.
    Brandi W. September 26, 2013 at 1:57 am | | Reply

    Glad that you got your results and some answers! This test is on my "to do for Carson" list. It may answer why he reacted with such sensory issues with the NDF and NDF+. You always have such great posts! Thanks for all the info and time that you put into your blog.

  3. Tori
    Tori November 22, 2013 at 4:17 pm | | Reply

    Hi, I’ve contacted you before regarding my son Jake. Jake was diagnosed with apraxia of speech at age 3 and is now 5.2 years old. We worked with a naturopath from age 2-3 and at age 4 we dove into biomed. Last year at this time, Jake could string 2-3 words together and his speech was unintelligible to most people. We are very blessed b/c last week he officially tested out of speech! Unfortunately, Jake still has more obstacles to overcome and now that cognitively he is where he needs to be, I’m going after his food allergies. Each year his food allergies get worse and he is now up to 8! He has IgE allergies to fish, shellfish, peanut, tree nut, pineapple, pork, dairy, & egg. He also has a gluten intolerance & major seasonal allergies, etc.

    I am currently in major research mode to try to figure out the why behind his over-reactive, unbalanced immune system. I have a few things I am exploring – methylation issues, mast cell disorder, leaky gut/abnormal bacteria in his small intestines/parasites.

    Here’s my question – How many NutrEvals have you done? Aug of 2012 we did NutrEval and it showed major deficiences in every vitamin & mineral. Also methylation and mitochondrial dysfunction were in the red. Our dr told us the methylation was off b/c the B vitamins were off & that the mitochondrial was off b/c his antioxidants are off. The nurse said most people wait 2 years before they get another NutrEval done, but I was considering having it re-done b/c cognitively he is drastically different & I’d like to know where he stands with methylation. Thoughts? Today I ordered the 23andme test so hopefully I will gain some clues with methylation. Will I get enough info from 23andme to verify where we’re at with methylation or would the NutrEval be a good secondary source for that?

    Last, tomorrow I pick up the CDSA stool test. Did you come off supplements and/or probiotics prior to collecting the 3 days worth of stool? I would greatly appreciate any advice or your thoughts. Our follow up apt with our holistic MD is in January and I want to hit the ground running at that point since my son starts kindergarten in Aug. of 2014. Thank you, thank you, thank you!!

  4. Tori
    Tori November 23, 2013 at 4:15 am | | Reply

    Thanks! So maybe if we did the NutrEval in August of 2012, it would make sense to do 23andme test, find out details about the methylation issue, try and treat that issue in 2014 and then do a second NutrEval in August of 2014 to see where we’re at. I’ve been putting off the 23andme test because I was afraid it would open up a whole other can of worms, but I guess sometimes you’ve got to fall down that rabbit hole regardless if you want to or not! 😉 Your experience has inspired me. Sometimes all the talk on the FB discussion groups sounds so technical, I’m not sure that we can handle it. But, you explain it all very nicely, so thank you.

    I do have one more question – Who did you get to analyze the results? I was going to go through a couple of online resources, but you mentioned a doctor. We have a holistic MD, I guess I could ask her? Or, are there professionals who just analyze these results?

  5. Nina
    Nina September 12, 2014 at 4:27 am | | Reply

    What your email as I want to contact u with similar issues in detail.

  6. Sskl
    Sskl July 8, 2016 at 1:16 am | | Reply

    Hi.. For CBS mutation, did the Nutreval test showed high taurine and ammonia for your son?

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