It’s been a while since I’ve posted an update on my health and this is going to be a long one. I will post a follow up after I get my lab tests back. A lot has happened in the last couple of months and a lot of light bulbs are starting to turn on. My eczema began when I had skin contact with epoxy in 2009. Well the main symptoms anyway that got me to seek a doctor, several doctors, from dermatologists to environmental illness docs to Naturopaths. It took over a year to realize changing my diet had an effect on my eczema. The epoxy contact appears to have triggered something in my body to stop functioning correctly.
I’ve had other minor health issues before that doctors have never been able to explain and it is all starting to point to methylation problems. And who diagnosed it as a methylation issue? Me. Thank you very much internet! Actually it was someone in a catathrenia support group that brought this possibility up as a solution to catathrenia. Catathrenia is a rare sleep disorder that causes someone to moan in their sleep and take very long exhales, anywhere from 8-20 seconds or so. I start moaning about an hour after I fall asleep and basically don’t stop until my alarm or my cat wakes me up. I’ve also had sleep tests done and tried a CPAP to no avail about 10 years ago. I eventually gave up on finding a “cure”. At the time I didn’t know there was a name for this disorder and the sleep doctors didn’t seem to know anything about it either. It was actually an article on CNN that I happened to see that talked about it. I can’t tell you how excited I was to find out it had a name and that I wasn’t the only one that did this. I quickly found the yahoo support group which is now nearing 500 members. The unfortunate thing is that I found there is no known cure for it but the good news is that it doesn’t appear to cause any health issues, and it doesn’t even wake me up and I usually don’t know I’m doing it but it’s sure to disturb anyone else that is trying to sleep nearby. The more I read about methylation the more I think it may be the key to curing catathrenia and all of my other health issues from the food/chemical sensitivities to all the UTI’s I used to get while on birth control.
So what is methylation? I like Dr. Amy Yasko’s explanation the best: “The Methylation Cycle is a biochemical pathway that manages or contributes to a wide range of crucial bodily functions, including: detoxification, immune function, maintaining DNA, energy production, mood balancing, controlling inflammation.”
Your diet, your environment and your genes are the main things that affect how well your methylation cycle works. The first thing to address is your diet and I changed my diet about 2 years ago and the majority of my eczema symptoms have disappeared but I will get small flare ups occasionally if I eat/drink foods high in sulfur. I rarely eat gluten and dairy these days and avoid processed foods. As for environment, you want to remove products with fragrance oils and artificial ingredients (shampoos, conditioners, soaps, lotions, toothpaste, etc.). Get rid of mold if you have any in your house and use natural cleaning products. I’ve been doing all this for a couple of years and I’ve made big improvements but I am still not “back to normal” so I knew there had to be something I was missing.
I think the key that I’ve been missing is to support my methylation pathway. I did a methylation gene test from Holistic Health. It was not a cheap test at $495 and not covered by insurance. There is another gene test by 23andme that is only $99 and covers most of the same genes plus many more. They just lowered the price from $299 in January. If it was only $99 last year I probably would have gone with that one and not done the Holistic Health test. 23andme doesn’t do any interpretation for you like the Holistic Health one but there are websites you can go to to do the translations. I recommend everyone get this test whether you have health problems or not. It could help you in the future. If you have Chronic Fatigue Syndrom (CFS), food or chemical sensitivities, autism, mental problems, memory problems, cancer, diabetes, alzheimers, frequent miscarriages, cardiovascular problems, blood clots, neurological conditions, alzheimers or have family history of any of these things you should definitely take this test. There’s a longer list of medical conditions associated with methylation here: http://www.mthfrsupport.com/.
MTHFR is the gene that plays the biggest role in methylation. It processes amino acids and converts folic acid (B9) into methylfolate. Most ND’s are familiar with this gene and normally only test for it when a woman has multiple miscarriages. What is not well known is that it has many more implications on the health of men and women. What’s also not well known is that there are many more genes that need to be looked at that work together with MTHFR. Each gene has a function and role that it plays in the methylation pathway and it’s important that they be addressed in a certain order.
When I first started seeing my ND about a year ago, I requested a B12 test because I had a feeling I might be B12 deficient. I got my results back and was surprised that my Serum B12 and Folate were actually extremely high (Folate was >20 and B12 was 1858) Normal Folate is >3 and normal B12 is 211-946. That means I’m not B12 deficient and in fact have too much B12. I had been eating a lot of meat so that had to be it right? WRONG! This should have been a clue that I’m having problems converting folate and B12. These high serum levels are typical in those with MTHFR because they have trouble converting B12 and folate to the active forms. Serum levels only test the inactive form. It appears my ND did not know this and I didn’t know this until recently. It’s important you not trust everything your doctor tells you and get copies of your lab tests and do your own research.
The gene test I took shows I have three different MTHFR genes and a slew of other genes that may be causing my methylation issues. The one I found to be particularly interesting is CBS. This gene is responsible for processing sulfites and ammonia from your body. I happen to have this gene and I’m expecting my lab tests to come back with elevated sulfite and ammonia. The good thing is there are supplements you can take to help with the excess. This was a big ah ha moment. I’ve been having a lot of problems with high sulfite foods/drink. I even wrote a blog post back in 2011 about my sulfite sensitivities. It’s important that this CBS mutation be addressed before MTHFR because the supplements typically used to treat MTHFR (Methyl folate and Methyl B12) increases your sulfites and ammonia and if you are already not processing them well, any methyl supplementation may cause more damage. There are other forms of B12 that can be used instead of methyl like hydroxy and adenosyl that those with CBS may be able to tolerate better. I’ve been alternating between the two and am doing ok with it so far.
Those who don’t look at these other mutations and how they play a role in the big picture wonder why some of their patients aren’t getting better when they try to treat their MTHFR mutations and CBS is most likely why. I don’t want to get into every gene in this post but CBS and MTHFR are the big ones. I also have ACAT, COMT, MAO-A, MTRR and BHMT. All these genes play a role in methylation and could cause health issues if they aren’t working properly and I’ll probably talk more about those in future posts.
Another important point. If you get the gene test done and you find you have one or many of the gene mutations in the methylation pathway, it doesn’t mean you have or are going to have problems. You may not have any problems if you have a good diet and a non-hazardous environment. It’s important that you find a doctor that is knowledgeable about the entire methylation pathway or else do lots and lots of reading and watching videos on it. This video by Dr. Ben Lynch is one I’ve watched several times. I didn’t understand half of it the first time I watched it but after a lot more reading I went back and watched it again and was able to understand it more. Dr Ben Lynch has a helpful list of lab tests you can get done that will indicate if you are having issues with methylation and require supplementation. I personally am getting the biopterin/neopterin, urinary porphyrins and ION profile (includes amino acids, fatty acids, organic acids and more) done on Wednesday. This should give me a good idea of which of my gene mutations are being expressed so I know what I should supplement to get my methylation pathway working again.
If you can’t find a methylation specialist in your area there are some doctors around that take phone/online consultations that may be able to help you. My ND isn’t particularly knowledgeable in this area but she seems willing to learn more about it. I wrote down a bunch of notes from Dr. Ben Lynch’s video and noted where in the video it talked about each topic and gave that to my ND and am hoping she watches the video or at least watches some of the sections that I wrote down in my notes. I’m looking forward to getting my lab tests back and starting on supplements to address my gene mutations and am hopeful that it will get my health back on track and maybe even cure my sleep disorder too.
Below are the results I got back from my genetics test from Holistic Health:
Gapeys Grub 
MTHFR SNPs makes one susceptable to bacteria, parasites, heavy metals, viruses. BHMT 8 makes one susceptable to Helicobater Pylori. These nasties rob one of nutrients and they can cause malabsorption. They can mess up everything in the body. Bacteria, parasites are not necessarily confined to the gut/intestines they can go elsewhere in the body. They also create toxins. If one has complicated health issues and/or doctors can't find out what is wrong, GI stool/gut testing is valuable. One can have various bacteria/parasites,mycloplasma etc but it does not always show in testing. Sometimes it takes a while for things to show on testing if one has bacteria, parasites..
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I've had 3 GI tests done over the past couple of years. The first showed moderate yeast and mild/distal Colitis, no parasites. After over a year on a candida diet the yeast previously reported under GP2 cleared but there was light Saprophytic fungi under CS1 and my colon inflammation more than tripled from 149 to >540. The 3rd GI 3 months later showed no yeast or fungi and colon inflammation down to 216 which is still too high. They didn't test for parasites on the last two and the last one was done in October so I'm probably due for another one soon to see how the colon inflammation is doing. I've been taking Bioinflammatory powder, Biogest and Intestinal Repair Capsules for the past 6 months to reduce the inflammation as well as continuing a healthy diet.
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Hi Paula, I'm curious about your biopterin results. I just received my neopterin/biopterin results and have high biopterin with normal (low side of normal) neopterin levels. My ND isn't very knowledgeable about what to make of these results. From what ive read, these results may indicate DHPR deficiency (leading to elevated biop levels?). Wondering if we can compare notes?
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Actually my neopterin and biopterin levels were normal. Most of what I've read are about biopterin being low and neopterin high. I did read this about elevated biopterin \”Elevated biopterin does not indicate a typical inflammatory process but could indicate reduced or dysregulated immune activity\”.
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Paula, I am just beginning my journey about MTHFR. I'm waiting on initial lab results now to see if I have a mutation(s), but I suspect I might. I have thought about doing the test you mentioned above from Dr. Amy Yasko (methylation gene test from Holistic Health) but can't figure out if it is a blood draw, urine sample, saliva sample, etc. Can you tell me? Also, the tests that you mentioned that you are getting done now – biopterin/neopterin, urinary porphyrins and ION profile – are these necesssary in addition to the Holistic Health test? They tell you something more than what the holstic health test did?thanks so much!emily
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My suggestion is not to do the Holistic Health test. You get a lot more info by doing the 23andme test and it's only $99. Holistic Health is a blood test you put on a paper and send back. 23andme is saliva and has almost all of the same things that the Holistic one has but gives you a TON more genetic SNPs than Holistic Health but you'll just have to get the raw data converted by an app like geneticgenie.com or through mthfrsupport.com. Both of those tests are genetic tests and the results will never change. I would recommend for starters to get a GI test done to see if you have any inflammation, yeast overgrowth, parasites, bacteria, etc. and either the ION Profile or the Nutreval by Genova/Metametrix. They are both similar and give you lots of info on your vitamin levels, toxic elements, essential nutrients, organic and fatty acids and some other stuff. I did the Nutreval this year and I actually prefer ION a bit more because it tests for homocysteine and Nutreval doesn't but you can always get a separate lab test done for that.I ended up not getting the urinary porphyrins. That test helps determine if you have heavy metal toxicity but if you get the ION or Nutreval that will give you some info on toxicity levels. One I had done recently was a hair mineral analysis. It tests for a lot more essential and toxic elements at a cellular level. You don't need a doc to get it done either. I got the test kit myself through this site for $110 http://www.integrativepsychiatry.net/hair_elements_hair_analysis_test.html
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Hi Paula, I just wanted to comment that if you are having yeast/ fungal overgrowth that might be related to a buildup of phosphorous/ sulfur in your system (eg the CBS mutation where that stuff builds up) All fungi/yeast is high in phosphorous and likes to eat phosphorous type things, so if your body is not methylating properly and you have phosphorous/sulfur buildup, that will make a good chuck wagon for any yeast you might have and then you can get overgrowth. I suggest avoiding foods high in phosphorous (black coffee, black tea, sodas (esp colas and dr. pepper)green tea, eggs, oatmeal, beans, peas, legumes, soy beans, soy sauce, mushrooms, onions, garlic etc). You could also try a supplement called Candex which you take once per day in the evening (maintenance dose). Candex is a capsule that destroys the cell wall of fungus. With fungal overgrowth, one can also have brain fog since fungi can also excrete mycotoxins into the system, which is doubly bad for people with mutations since they cannot clear toxins well.
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Hi,PaulaYour post about MTHFR is very helpful info. I’d like to know right now what protocol you are using to deal with MTHFR mutation problem, and how much progress you have got. In addition, what supplements you are using for CBS mutation? Thanks!
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There's no protocol that works for everything. Each person is different and should be treated based on their history, symptoms, lab results, etc. For CBS I'm just taking molybdenum for CBS support. I was doing Yucca Root too but haven't been taking that anymore after it was discovered that it may be bad for estrogen dominance. I'm alternating between the 3 forms of B12 and taking methyl folate, magnesium, T3, Lithium, iodine, choline, trace minerals, Vit A, C, D, Coq10, TMG and digestive enzymes. I also recently started taking some liquid herbal iron.
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As far as progress my eczema seems to have cleared up which has been a problem for several years. My biggest help was with my change in diet to a paleo type diet. I used to not be able to eat fruits but am able to now after clearing up some gut issues which took a long time to take care of. I'm also not as fatigued and tired as I used to be.
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Hi, Paula,Thanks a lot for your reply. I also want to know how much you take B12 daily. What are brands? In addition, how much methyl folate do you take daily? Also, do you take glutathione? Someone say you have to take it, and other people say you should avoid it, I’m really confused.
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You shouldn't take something just because someone else takes it. Everyone is different and some people may need it while others don't. I don't take it. My B12 ranges from 1000-2000mcg and 1000mcg of folate. I use a combo of Yasko's B12 drops and Seeking Health lozenges. Like other things, not everyone can tolerate that much B12/folate or any at all. I didn't start taking them until my gut issues and CBS were under control and I had also been taking TMG for a good while.
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I’m compound Heterozygous MTHFR mutation (C677T & A1298C),with long time CFS history, anxiety, and migraine, etc. Methyl B12 and methyl folate help me a lot, but I found it’s hard to find best dosage and combination.
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Thank you so much.
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Hu Paula very good and easy way to explain these mutations .. my son almost 8 years old, has both mutations MTHFR and CBS we just got his blood test and ammonia and homo cysteine levels are within the normal levels., so we started him with methylcobalamine (b12 i guess we need to keep controlling his ammonia and homo cysteine levels just to make sure right?
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That's good that ammonia is at normal levels just keep an eye on it. It could go up with the addition of Methyl B12. Also take a look at taurine because that can increase with CBS and methyl B12. I've been taking a rotation of types of B12. Hydroxy, Adenosyl and methyl on different days. That seems to be working well.
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thank you very much.. his dr did a Amino Acid profile in plasma fasting and non fasting the fasting one came out normal just Cystathionine came out 0.3 is suppose to be .01-0.2… but the non fasting one was done after he eat a very good breakfast with eggs and his lunch when he got a good amount of chicken and his usually protein shake ( per dr recommendation) this one came with Taurine, serine,Alpha−aminoadipate,Valine ,Methionine ,Cystathionine,Isoleucine high!!! so my question is those higj results are from the protein he ate ? so in other words is expected to have high levels of amino acids after his meal?.. thank uuu
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I'm not sure if protein causes all of the aminos to increase but it definitely increases ammonia. http://www.webmd.com/digestive-disorders/ammonia-test
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Do you have a reference or study that shows that methylb12 causes ammonia to increase? Thanks in advance. 🙂
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This isn't where I originally found it but it came up in a google search. It is really only a problem if you have CBS upregulation. http://metabolichealing.com/metabolic-gateways-cbs-gene-mutations-glutathione/ \”any additional methyl groups from diet or supplementation could cause a potential surge in CBS up-regulations. The result of this situation is a potential toxic overload of many substances, such as ammonia, sulfite, sulfate and hydrogen sulfide, and whatever else that comes along for the ride.\”
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Hi Paula,What type of diet do you follow having CBS?. Low protein? No sulfate a? Etc…just curious!Thanks!
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I basically eat a mostly Paleo type diet. Only organic fruis/veg, growing as much as I can in my own backyard. I'm not as sensitive to sulfites as I used to be. I can actually drink white wine now without triggering eczema but I still limit the amount. I try to keep my diet pretty varied and not eat too much of one thing.
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This seems to be a dangerous thing. How did you manage your daily work routine during this? I got you searching hair mineral analysis test kit . Get well soon!
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A Paleo diet is high in protein, which will result in elevated ammonia in some people.
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Thank you so much Paula. I felt informed once I found Dr. Lynch, but now feel I've entered a whole new level of Information. I know I have a single mutation, C677T and I will soon do the 23andMe testing to learn about any further issues. I had Lyme for several years before being diagnosed so between the oral and IV antibiotics for almost 2.5 years, I couldn't seem to get my candida under control, but now I'm on a specific die by Donna Gates, Body Ecology. I left my 17-year job a few years ago due to memory loss at 47(!) and still feel I live with perpetual brain fog which is no way to live. We just recently moved to north Texas and finding a doctor who isn't overwhelmed with my diagnoses is a challenge. I've basically taken things into my own hands to get on the candida diet, heal my leaky gut and continue with genetic testing. I sleep well for 2-3hours and the rest of the night restless and sleepless which creates fatigued and fuzzy days – again, no way to live. Thank you so much Paula and others for your in-depth research and sharing. I'm seeing a light : )
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Hello Rita. It's been a long journey, that's for sure. You almost have to do your own research and figure out what's best for you. Finding a good doc that is willing to listen to you and run any lab tests you want is helpful though. Lyme is horrible and deciding which treatment to do is pretty overwhelming too. A change in diet is really what helped me the most. I've recently found that misalignment in your spine can also cause a lot of issues that you would never think about. I found this link informative: http://www.neworleanschiropractic.net/misalignment/ If I see some improvements with my chiropractor I'll be sure to write a blog post about it.
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yes, it can be which is why I like to eat a varied diet.
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nice
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