MTHFR advice 23 and me

[evergreen]

Hi all,

I don't get on the forum often as I would like since I am so ill. We are getting started with the MTHFR gene mutation issue. Myself and one son are homozygous for A1298C and other son hetero for 677/1298. I am looking at the MTHFR support website and wondering if any of you have done the 23 and me test and if so, any success? Our current functional LLMD does not think that MTHFR is important since "all my pts. have it".

Background, we all have Lyme and coinfections (longterm), boys have PANDAS, and immune deficiency.

thanks in advance for sharing.

[nicklemama]

I'm considering it. DS is hetero for 677/1298.

[mdmom]

LLM is our MTHFR guru on this forum and you might reach our to her since she just had the 23 and me test done.

[evergreen]

LLM is our MTHFR guru on this forum and you might reach our to her since she just had the 23 and me test done.

Thanks, from all my research it looks like it could be key to why we have not made enough progress with all the treatment we have had. I am becoming very cautious before jumping into anything since we have spent a fortune and are still sick. Actually the boys are much more improved than I am. They were given the methylfolate and methylb12 which is the "available" form you are supposed to need if you have these mutations and they tolerated it. I started it and felt like I was hit by a truck. Also felt like I would jump out of my skin, severe anxiety,rage, and shaking, etc. I stopped taking the vitamin and felt better. I have been reading that those symptoms could indicate having other polymorphisms or SNP's, which has been explained to me are other gene mutations. If you have them your biochemistry is all messed up (for lack of a better understanding).

The problem seems that very few practitioners deal with this and I am so tired of spreading out our care among so many doctors. I have trouble coordinating all of it, none talk to each other and it is so expensive. I am venting since I have had enough of it after 10 years of illness and heartache.

[LNN]

Totally understand your reluctance to bleed more cash on anything. When you're really sick and no one can figure out why, it becomes a huge money suck. But I have to say that the $99 for 23andMe was a really good investment (when I ordered 2 kits for DH and myself last week, they had also introduced a 20% discount on additional kits, so mine was $99 and DH's was 79).

 

Given your response to the methylfolate/methylB12, you're probably right to think you have more than just MTHFR issues. Three things could be behind your horrible response. First, the starting dose could've been too high. You need to start low and slow. Think of rusty wheels that haven't moved in a long time - you need to gently re-start the methylation cycle, not jump start it with 12,000 volts. So its possible you started too high - or even that the dose was higher than you'd ever end up needing. The fact that you felt rage might mean you over-methylated yourself. When you've flooded the system with too many methyl donors, you can get rage. Niacin (50mg) is a good antidote for this if you ever try it again, since niacin uses up methyl groups.

 

The second possibility is that you have additional methylation issues and treating only one and not the bigger picture can just move the problem downstream, possibly creating an even larger log jam. That's where 23andMe would certainly help. Once you get your raw data, you can run it thru a free app called Genetic Genie (tho the owner does ask for a $10 donation, which is very deserved IMO). Genetic Genie gives you a report that looks nearly identical to Yasko's report, except NOS and SUOX snps aren't reported. (but different NOS and SUOX snps are tested in 23andMe and you can back your way into the knowledge on these genes, just a little more work). You then compare your results to this 50+ pg guide http://www.heartfixer.com/AMRI-Nutrigenomics.htm that can help you figure out what to do with this info. (and by the time you get your results - which are currently taking about 8 weeks - others here will have their results and can probably help you with specific questions).

 

The third possibility is that because you're not positive for C677T and only A1298C +/+, you have a metals problem brought on by lyme and you're feeling a block caused by low BH4. A quote from the link I just listed:

MTHFR A1298C has no adverse affect on 5-methyl folate production, but it does compromise the “backward” reaction, whereby 5-methyl folate is converted back in to THF, in the process generating one molecule of BH4. Individuals with abnormalities in CBS and BHMT will be low in BH4, as it is being used up detoxifying ammonia that these defects have generated, so their combination with MTHFR A1298C leads to a BH4 deficiency double whammy. DHPR is the enzyme that regenerates BH4 from BH2. It is poisoned by mercury, lead, and especially aluminum. These toxins are wide spread in our environment, and individuals with Methyl Cycle abnormalities have particular trouble dealing with them. The result is a progressive drain on BH4, a progressive impairment in neurotransmitter production, and conversion of arginine not in to nitric oxide but instead in to free radicals such as superoxide and peroxynitrite. We treat MTHFR A1298C with 5-methyl folate supplementation (aiming to push the reaction backwards) and, after your other Methyl Cycle challenges have been addressed, with nutritional doses of BH4. Metal detoxification will help here and with every other biochemical function in your body, and will be part of your overall program. We will also endeavor to decrease your need for BH4. If you are COMT (-/-), we can provide nutritional support to help maintain dopamine levels, such that you will need to use less BH4 to generate more. If you are MAO A (-/-), we can do the same thing with serotonin precursors such as high tryptophan foodstuffs. The basic philosophy is to stimulate the action of still open pathways to take the stress off your impaired pathways.

 

But as you can tell from the above quote, you really need to know what your other gene issues are before you can make a good treatment plan. Just looking at MTHFR alone is the tip of the iceberg. And if one of your issues is with the gene CBS, then Yasko suggests treating this first, then the rest. When you treat the rest, she suggests you add small amounts of supplements to help the entire cycle, a little at a time, and not getting one blockage moving at full speed while the other blockages stay stuck.

 

Now, all this said, you may very well still have lyme issues to fight even when you've "done all the right things" for methylation. You will probably need to continue abx and possibly treat for metals or biofilms while you also address methylation. But clearing the log jams should make healing from the infection much, much easier - assuming no chronic environmental issues like mold, etc. Of all the treatments we've done, the two best checks I ever wrote were for our initial consult with our LLMD and the one to 23andMe. (and that's not even mentioning the things I learned about inherited health risks the kids face down the road that we can now work on reducing).

[evergreen]

Totally understand your reluctance to bleed more cash on anything. When you're really sick and no one can figure out why, it becomes a huge money suck. But I have to say that the $99 for 23andMe was a really good investment (when I ordered 2 kits for DH and myself last week, they had also introduced a 20% discount on additional kits, so mine was $99 and DH's was 79).

 

Given your response to the methylfolate/methylB12, you're probably right to think you have more than just MTHFR issues. Three things could be behind your horrible response. First, the starting dose could've been too high. You need to start low and slow. Think of rusty wheels that haven't moved in a long time - you need to gently re-start the methylation cycle, not jump start it with 12,000 volts. So its possible you started too high - or even that the dose was higher than you'd ever end up needing. The fact that you felt rage might mean you over-methylated yourself. When you've flooded the system with too many methyl donors, you can get rage. Niacin (50mg) is a good antidote for this if you ever try it again, since niacin uses up methyl groups.

 

The second possibility is that you have additional methylation issues and treating only one and not the bigger picture can just move the problem downstream, possibly creating an even larger log jam. That's where 23andMe would certainly help. Once you get your raw data, you can run it thru a free app called Genetic Genie (tho the owner does ask for a $10 donation, which is very deserved IMO). Genetic Genie gives you a report that looks nearly identical to Yasko's report, except NOS and SUOX snps aren't reported. (but different NOS and SUOX snps are tested in 23andMe and you can back your way into the knowledge on these genes, just a little more work). You then compare your results to this 50+ pg guide http://www.heartfixer.com/AMRI-Nutrigenomics.htm that can help you figure out what to do with this info. (and by the time you get your results - which are currently taking about 8 weeks - others here will have their results and can probably help you with specific questions).

 

The third possibility is that because you're not positive for C677T and only A1298C +/+, you have a metals problem brought on by lyme and you're feeling a block caused by low BH4. A quote from the link I just listed:

MTHFR A1298C has no adverse affect on 5-methyl folate production, but it does compromise the “backward” reaction, whereby 5-methyl folate is converted back in to THF, in the process generating one molecule of BH4. Individuals with abnormalities in CBS and BHMT will be low in BH4, as it is being used up detoxifying ammonia that these defects have generated, so their combination with MTHFR A1298C leads to a BH4 deficiency double whammy. DHPR is the enzyme that regenerates BH4 from BH2. It is poisoned by mercury, lead, and especially aluminum. These toxins are wide spread in our environment, and individuals with Methyl Cycle abnormalities have particular trouble dealing with them. The result is a progressive drain on BH4, a progressive impairment in neurotransmitter production, and conversion of arginine not in to nitric oxide but instead in to free radicals such as superoxide and peroxynitrite. We treat MTHFR A1298C with 5-methyl folate supplementation (aiming to push the reaction backwards) and, after your other Methyl Cycle challenges have been addressed, with nutritional doses of BH4. Metal detoxification will help here and with every other biochemical function in your body, and will be part of your overall program. We will also endeavor to decrease your need for BH4. If you are COMT (-/-), we can provide nutritional support to help maintain dopamine levels, such that you will need to use less BH4 to generate more. If you are MAO A (-/-), we can do the same thing with serotonin precursors such as high tryptophan foodstuffs. The basic philosophy is to stimulate the action of still open pathways to take the stress off your impaired pathways.

 

But as you can tell from the above quote, you really need to know what your other gene issues are before you can make a good treatment plan. Just looking at MTHFR alone is the tip of the iceberg. And if one of your issues is with the gene CBS, then Yasko suggests treating this first, then the rest. When you treat the rest, she suggests you add small amounts of supplements to help the entire cycle, a little at a time, and not getting one blockage moving at full speed while the other blockages stay stuck.

 

Now, all this said, you may very well still have lyme issues to fight even when you've "done all the right things" for methylation. You will probably need to continue abx and possibly treat for metals or biofilms while you also address methylation. But clearing the log jams should make healing from the infection much, much easier - assuming no chronic environmental issues like mold, etc. Of all the treatments we've done, the two best checks I ever wrote were for our initial consult with our LLMD and the one to 23andMe. (and that's not even mentioning the things I learned about inherited health risks the kids face down the road that we can now work on reducing).

 

Wow you do know your stuff! Can't thank you enough for taking the time to explain all of this. I have spent hours on the MTHFRsupport.com website but have not read anything by Yasko. Is that where you get your best info?

I think you are exactly right about the high metals. I recently saw a dentist who specializes in removing the mercury amalgams safely but he would not remove any until I am tested. My LLMD will not test me until I have them taken out since she says I will just be positive. So I got my GP to order a test. Have not had it done yet because I am very low functioning and have trouble getting very many things done on a given day. also my brain is impaired and at this time of day 2pm, I am still in a fog. I feel very toxic and always feel better as the day goes on and I get rid of toxins. I am plodding along trying to make the best decisions.

 

Have you gotten help for this from your LLMD or or you doing the legwork? i do feel my doc gives us too much at once and we argue about it. If you start so many things you have no idea what is affecting what. I need a new doc and don't know who to go to. I am currently on plaquenil, ceftin, and supposed to start artemisin again, pulse dosing, but have not done that yet. I have so many supplements and meds, I counted 26! Have not started any chelation yet.

 

I know we need to address mold too but too overwhelmed to do that. We are looking into infared sauna. I have always done a lot of detoxing through food and exercise. I make Kombucha tea and beet kvass which are very helpful.

 

Your info has been really helpful and makes it clear that we need to do the test. I'm looking forward to going over it again when my brain clears. to clarify, do you know this to be strictly something you have to pay out of pocket and go to alternative practitioners or would insurance possibly cover it? My GP suggested genetic counseling but I am guessing that would not get us anywhere. I am referring to mainstream healthcare.

[LNN]

I started with yasko - you can watch a 2 hr video of her here: http://www.autismone.org/content/dr-amy-yasko-presents-assessment-metals-and-microbes-function-nutrigenomic-profiling-part-1- But it was hard to take it all in even without brain fog! You can also use her book Pathways to Recovery but it's much easier to understand once you have your real data in front of you. Otherwise, it's all hypothetical and you don't know what to pay attention to and what you can ignore. So bookmark the sites for future reference.

 

In addition to Yasko, I found some helpful info at mthfr.net and some of Sterling Hill's blogs at www.mthfrsupport.com and lots of misc. blogs and sites. There are some youtube vidoes you can watch too. For awhile, it was anything I could get my hands on. It's a complicated subject. And I'm by no means an expert. I've learned only the basics of what I need to do for my immediate family.

 

Regarding the test - insurance will not pay for it. But you don't need a doctor's orders to get it. You just go online and order a kit. Very simple. And as I said, they're giving discounts right now when you order more than one kit. When you register, I would suggest opting out of sharing your data. I think the whole thing is in its infancy and there are privacy concerns. But my need to know outweighed those concerns. So I just selected as many privacy options as I could.

 

I'm not sure I understand why your dentist is requiring you to get tested before removing your amalgams. That doesn't make sense to me. Did s/he give you a reason? I had mine removed last year. I couldn't afford the travel and expense of an environmental DDS, so I took DMPS before and after the procedure in the hopes of sopping up metals that got into my bloodstream from the procedure. I have no idea if this helped, but I had some on hand and put it to use. The DDS also used a mouth dam and tok other precautions, tho I'm sure it would've made an environmental DDS cringe. But sometimes, you can only do so much.

 

I've gotten a lot of support from our LLMD (I don't have lyme - only my son does/did). But the methylation stuff has mostly been on my own, with the LLMD as my sounding board. He knows a lot about a lot of things, but methylation - and its implications - are still fairly new territory for him. That may change in the coming year(s) but for now, a lot of successes and mistakes are on my own.

 

It does sound like you might need a new LLMD. You shouldn't be arguing over treatment and I agree, you need to introduce one thing at at time. It doesn't do much good to kill the lyme if you also kill the patient in the process. One option is to take a holiday on all but the most essential pills. After getting my 23andMe results for my kids, I realized some of the supplements that were good for one kid were actually bad for the other. They both feel better now that we've stopped the ones that are generally good for most people (e.g. milk thistle and alpha lipoic acid) but can be bad for those who have trouble with sulfur (my DD). I never in a million years would've guessed it. It's supposed to be so good for you. But that wasn't the case. But you also don't want to stop treatment altogether. Sounds like a compromise is in order...

 

Once you get your results, you could consider using one of the practitioners on the FB mthfrsupport site. I don't know what they charge or how they handle your private data, but they seem to know more than most practitioners on how to look at the bigger picture. One - Tim Jackson I think - had lyme. But I din't think any can prescribe abx and you'd still need to work with an LLMD you trust.

[evergreen]

I started with yasko - you can watch a 2 hr video of her here: http://www.autismone.org/content/dr-amy-yasko-presents-assessment-metals-and-microbes-function-nutrigenomic-profiling-part-1- But it was hard to take it all in even without brain fog! You can also use her book Pathways to Recovery but it's much easier to understand once you have your real data in front of you. Otherwise, it's all hypothetical and you don't know what to pay attention to and what you can ignore. So bookmark the sites for future reference.

 

In addition to Yasko, I found some helpful info at mthfr.net and some of Sterling Hill's blogs at www.mthfrsupport.com and lots of misc. blogs and sites. There are some youtube vidoes you can watch too. For awhile, it was anything I could get my hands on. It's a complicated subject. And I'm by no means an expert. I've learned only the basics of what I need to do for my immediate family.

 

Regarding the test - insurance will not pay for it. But you don't need a doctor's orders to get it. You just go online and order a kit. Very simple. And as I said, they're giving discounts right now when you order more than one kit. When you register, I would suggest opting out of sharing your data. I think the whole thing is in its infancy and there are privacy concerns. But my need to know outweighed those concerns. So I just selected as many privacy options as I could.

 

I'm not sure I understand why your dentist is requiring you to get tested before removing your amalgams. That doesn't make sense to me. Did s/he give you a reason? I had mine removed last year. I couldn't afford the travel and expense of an environmental DDS, so I took DMPS before and after the procedure in the hopes of sopping up metals that got into my bloodstream from the procedure. I have no idea if this helped, but I had some on hand and put it to use. The DDS also used a mouth dam and tok other precautions, tho I'm sure it would've made an environmental DDS cringe. But sometimes, you can only do so much.

 

I've gotten a lot of support from our LLMD (I don't have lyme - only my son does/did). But the methylation stuff has mostly been on my own, with the LLMD as my sounding board. He knows a lot about a lot of things, but methylation - and its implications - are still fairly new territory for him. That may change in the coming year(s) but for now, a lot of successes and mistakes are on my own.

 

It does sound like you might need a new LLMD. You shouldn't be arguing over treatment and I agree, you need to introduce one thing at at time. It doesn't do much good to kill the lyme if you also kill the patient in the process. One option is to take a holiday on all but the most essential pills. After getting my 23andMe results for my kids, I realized some of the supplements that were good for one kid were actually bad for the other. They both feel better now that we've stopped the ones that are generally good for most people (e.g. milk thistle and alpha lipoic acid) but can be bad for those who have trouble with sulfur (my DD). I never in a million years would've guessed it. It's supposed to be so good for you. But that wasn't the case. But you also don't want to stop treatment altogether. Sounds like a compromise is in order...

 

Once you get your results, you could consider using one of the practitioners on the FB mthfrsupport site. I don't know what they charge or how they handle your private data, but they seem to know more than most practitioners on how to look at the bigger picture. One - Tim Jackson I think - had lyme. But I din't think any can prescribe abx and you'd still need to work with an LLMD you trust.

again thanks LLM! The trouble with finding a new LLMD is the question do we go as apackage deal and spend 3 times the cost or does one try and then the others. I get so confused with all of these doctors. My ds20 is aging out of Dr. J's care after 7 years. He did wonders for him along with Dr. B and IVIG but we had never addressed the alternative route to any great extent. Early on we did but he was homebound and I had difficulty getting him to apts. At that point nothing seemed to make any difference. He was so sick I believe he would have died if we had stayed with mainstream care. Which is a moot point because they weren't giving him any care, even at CHOP.

 

about the dentist, he refers to causing a "mercury storm" if taken out before I chelate and have too much mercury in my system. He must have an MD tell him it is safe to proceed. I most likely will not be going back to him anyway since he advertised free consultations on his website, quoted $75 when I called to make the apt. When I saw him he decided my case was complicated and he would have to spend time writing letters, etc and charged me $250. Then we had words by email over it and I have decided he would probably be quite expensive to have the work done with. But that is his reasoning. He is a member of a group called mercury safe dentists or something like that. Now I am afraid to proceed until I get test results and chelate, since I think it is highly likely I have high heavy metals.

 

I like your idea about eliminating some of the supplements because some are neuroscience and contain folic acid. Complicated. I also take alpha lipoic acid and milk thistle and cannot take sulfa so I will rethink that too.

 

 

thanks again and I will try to make a point to post about my experiences with the MTHFR.

[sf_mom]

Wow, I can appreciate your frustration but also happy to read your son's have made headway with treatment.

 

When I read your response to B-12, I immediately thought heavy metals as well. My friends son who has stalled out with Lyme treatment and just got his results is positive for 5 different heavy metals plus arsenic. BUT, agree getting the supplementation right in advance of chelation is critical. Starting low and slow is necessary especially if there are heavy metals involved because any elimination will cause symptoms. We were recommended to remove mercury fillings prior to chelation as well by LLMD. Thankfully, mine were removed last year and no one else in the family has them.

 

I was also wondering if you have done a comprehensive stool analysis? Our results showed low pancreatic function with little absorption (this includes one's ability to absorb vitamins and minerals) unburdening pancreas with enzymes can also be extremely helpful. Many find Houston Enzymes to be extremely helpful as they have the ability to break down casein and gluten proteins. Often individuals with these issues will see immediate improvement when the right enzymes are used similar to supplementing with right vitamin or mineral. The book 'Enzymes for Autism and Other Neurological Issues" is a great resource on the topic. Plus with comprehensive stool analysis you'll have an idea regarding yeast. Yeast and heavy metals often go hand in hand.

[LNN]

FWIW, Yasko does not use chelators in her protocol. She does metals testing at least once a month and says that when you re-start the methylation cycle, you start to see the body naturally chelate itself and the metals start dumping. She uses the monthly testing to gauge how fast to proceed (i.e. you don't want to ramp up methylation supp doses and get things moving faster than the body can handle) and it helps gauge the use of binders - I believe she uses charcoal "flushes" but not sure what that means.

 

So maybe you can hold off on the dental work - or there's a yahoo support group that follows Andy Cutler's chelation protocol - they may be able to give some input (tho they were not very helpful for the brief time I was there - a bit hostile toward lyme and very hostile to Klinghardt).

 

Have you been treating for 7 years or ill for seven but treating for less? My LLMD is 45 min north of Dr J but not sure if that's too far for you. Let me know if you want his name.

 

Maybe watch her video - without trying to retain it all - and see if it prompts some ideas for you.

[sf_mom]

Just thought I would mention NOVA aired a show called 'Cracking Your Genetic Code' this evening and features a discussion about 23andMe testing. Sorry I haven't searched for on-line link yet. Definitely worth watching.

[evergreen]

You guys are great, I should have been on the forum along time ago. i have just returned from a funeral and am feeling very ill so will absorb the details when recovered. Many ideas here to think about. SF mom, I did the stool test this morning on my way out the door to the funeral. That was fun, and how coincidental you should ask.

 

LLM, ds20 has been sick and treating for 8 years. ds28 was only dx with Lyme about 3 years ago and PANDAS 1 1/2 years ago but had been having psych symptoms for years. If it had not been for ds20 we never would have known what really caused his problems. Both had chronic strep throat and ear infections as children. I also have a ds 25 who is healthy and was hardly ever sick so it is obvious it is genetic. If I had half a brain left I think I would write a book.