Better Lab Testing Needed
Most research on MTHFR mutations point to the C677T homozygous mutation and how it causes elevated levels of homocysteine.
There is very little research in regards to the A1298C MTHFR mutations.
Then compound that with even less information on what to do successfully with A1298C mutations.
Then compound the issue that there is very little research done with heterozygous MTHFR mutations. The only research I’ve seen about heterozygous MTHFR mutations is basically summarized as, “No big thing.”
Well. I think absolutely the other way. Research or no research. Doctors just need to think a little outside the box and realize there are other things that must be at play here because those with heterozygous MTHFR mutations are NOT doing well!
When doctors discover elevated homocysteine levels in their patients, that may trigger them to order a MTHFR Genetic Test. At least, the doctors who know about MTHFR would order it.
Elevated homocysteine levels are typically found in those with homozygous C677T mutations.
But MTHFR mutations are way more than just elevated homocysteine; in fact, those with MTHFR mutuations may demonstrate normal levels of homocysteine.
Many doctors do nothing with MTHFR mutations if homocysteine levels are WNL (within normal limits).
This is what patients commonly hear over and over again (this is taken directly from a doctor’s email to their patient – and the patient posted this on a public forum):
MTHFR was positive for 1 copy of C677T and negative (normal) for A1298C. This means you are heterozygous for MTHFR. This has NO increased risk or coronary disease and clotting. This is a common finding in the general population. Your homocysteine level was normal so therefore no risk for you with clotting. If you would have have 1 copy for each of the above mutations, then there is some increased risk and treating with blood thinners would be the approach.[4]
Is this the right thing to do?
Not in my mind.
To be fair to the doctor, she is correct based on what research is stating based on these types of MTHFR mutations.
But the issue is many women with heterozygous C677T are miscarrying over and over yet their homocysteine levels are ‘normal.‘
What?!
Something else must be checked as there is obviously something being missed here.
Doctors just cannot go with the flow and say, “You’re fine. There’s no risk with your MTHFR mutation because you have low levels of homocysteine.”
Dig some more.
Think outside the box.
Why isn’t it right to just use homocysteine as a guide to see how MTHFR mutations are affecting people?
Because homocysteine is NOT the most sensitive marker for cardiovascular risk.
According to Kerins, Koury et al and their study published in the Americal Journal of Clinical Nutrition:
Plasma S-adenosylhomocysteine appears to be a much more sensitive indicator of the difference between patients with cardiovascular disease and control subjects than is homocysteine.[1]
Then add this to further the blow:
Homocysteine-lowering vitamins do not lower plasma S-adenosylhomocysteine in older people with elevated homocysteine concentrations.[5]
Yes, this was a study with older men but it shows that we need to evaluate pregnant women and s-adenosylhomocysteine.
Thankfully, some researchers are thinking outside the box and they have done something significant regarding the human umbilical vein and s-adenosylhomocysteine:
The aim of this study was to estimate the relationship of endothelial dysfunction induced by intracellular S-adenosylhomocysteine (SAH) accumulation and DNA methylation in human umbilical vein endothelial cells (HUVEC)…..These findings suggest that SAH can act as the potential molecular biological marker in the promotion of atherogenesis.[6]
What does that mean?
That means that if a mother has elevated s-adenosylhomocysteine levels, the umbilical vein and any tiny blood vessel in a developing fetus can become blocked due to atherosclerosis.
Typically, atherosclerosis takes years to develop. However, we are talking tiny capillary-sized arteries in a fetus. This means that it will not take long at all to develop atherosclerosis in a developing fetus if a mother’s s-adenosylhomocysteine levels are elevated.
I’m not done yet.
…results may show s-adenosylhomocysteine (SAH) might cause cellular DNA damage in hepatic and microglia cells by DNA hypomethylation, resulting in irreversible DNA damage and increased cell cytotoxicity. We suggest that SAH is a better marker of cell damage than homocysteine (Hcy) in hepatic and microglia cells…We suggest that SAH is a better marker of cell damage than Hcy in hepatic and microglia cells.[7]
That’s huge. That means that s-adenosylhomocysteine causes significant cellular damage including the neurological system’s cells.
Autism? Miscarriages?
This may partially explain the scores of women who have heterozygous C677T or heterozygous A1298 mutations and have miscarried numerous times.
Here are some forum posts I’ve found:
I have had 3 miscarriages since January, one being a twin pregnancy. I just recently found out that I tested positive for Heterozygous MTHFR C677T. I saw a specialist (RE) at the Cleveland Clinic last week that told me this was niot causing my miscarriages. I have been tested and tested and tested and this is the ONLY thing I am positive for. I have seen that many people take baby aspril or take shots of heperan along with extra folic and B vitamins. PLEASE HELP! I just don’t know who to believe and who not to believe.[2]
Makes you wonder what would have happened if the doctor tested for s-adenosylhomocysteine instead of homocysteine. It also makes you wonder what would have happened if this woman took 5-MTHF, methylB12, P5P, TMG, R5P, baby aspirin and fish oil.
I just miscarried at 15 weeks. I came back with the same results…heterozygote C677T and everything else tested negative. I spoke to my doctor tonight and she is going to send us to a perinatologist (sp?) if and when we do get pregnant again. She said that studies have been inconclusive but that some Dr.s would put one on a blood thinner. I would recommend a referral to a high-risk dr. Good luck and God bless you and your family. My heart is with you.[2]
Here is a woman who tests positive for heterozygous A1298C:
Hi, I am 33 years old and have had 3 miscarriages in the last 2 years. After numerous tests, one came back positive. I am positive for the Heterozygous A1298C mutation of MTHFR. What does this mean for me having children? I have a perfectly healthy 13 year old, and had no problems with my pregnancy with her. All of the research on line talks about the C677T mutation or a combo of the two. I want info on just the Heterozygous A1298C and what I need to do? I am so worried, and don’t know where to go for help![2]
There are countless women out there with heterozygous C677T mutations and heterozygous A1298C mutations that are miscarrying or having other symptoms highly related to the homozygous C677T mutation.
This tells me that testing is inaccurate for MTHFR care.
I highly recommend doctors and patients demand testing for the more sensitive laboratory values when patients come back positive for ANY MTHFR mutation:
- S-adenosylhomocysteine (SAH)
- Methylmalonic acid (MMA)
- More testing as I discover it will be posted. I’m not satisfied with these two.
This also tells me that we need to use more than just folic acid in treating any MTHFR mutations.
I highly recommend doctors utilize a wide-net approach to lowering homocysteine – AND s-adenosylhomocysteine in their patients.
Doctors that only use folic acid in high doses for MTHFR mutations are doing a major disservice to their patients.
Doctors that are not doing anything for heterozygous MTHFR mutations are doing a disservice to their patients.
We need more doctors who handle patients like this – proactively:
I also had 3 miscarriages in a row. Doctors have run 3D ultrasounds, genetic tests on my husband and I, etc. The only thing that came back was heterozygous for C677T. I am with a fertility specialist now who said he will treat this with folic acid supplements and baby aspirin when we start the IVF process. Hopefully this will help.[2]
I wish the doctor ran the blood tests I suggest above along with providing 5-MTHF, methylB12, fish oil, TMG and other nutrients which suppport the breakdown of homocysteine.
But – the main point of that doctor is he is taking action. He is not simply sitting on his haunches and saying there is no risk because you have heterozygous MTHFR C677T.
The lab test you can have your doctor order to check the main areas of homocysteine metabolism and methylation are in the Methylation Profile Test by Doctor’s Data.
Researchers!
Please perform a study measuring levels of s-adenosylhomocysteine in those with MTHFR mutations who have ‘normal homocysteine’ levels. I’ll share the Nobel Prize with you.
Have you miscarried and only tested heterozygous A1298C or heterozygous C677T? Please comment below.
What do you think of this more specific lab test: s-adenosylhomocysteine?
Pulling for you,
Dr Ben
References:
1. Kerins et al, Plasma S-adenosylhomocysteine is a more sensitive indicator of cardiovascular disease than plasma homocysteine, Americal Journal of Clinical Nutrition
2. MedHelp.Org and Search Terms: A1298C heterozygous, C677T heterozygous
3. Sample Methylation Lab Test from Doctor’s Data
4. Yahoo Forum on Pregnancy and Immunology
5. Green et al, Homocysteine-lowering vitamins do not lower plasma S-adenosylhomocysteine in older people with elevated homocysteine concentrations, British Journal of Nutrition
6. Yu et al, Relationship of impairment induced by intracellular S-adenosylhomocysteine accumulation with DNA methylation in human umbilical vein endothelial cells treated with 3-deazaadenosine, International Journal of Experimental Pathology
7. Liu et al, Effects of S-adenosylhomocysteine and homocysteine on DNA damage and cell cytotoxicity in murine hepatic and microglia cell lines, Journal of Biochemical and Molecular Toxicology
Dr. Ben I have been told to take SAMe S-Andenosymethionine in order to lower S-Adenosylcysteine.
Is there any way of finding a good active SAMe?
And the methylmalonic acid I have found to be linked to mercury toxicity. Here is an interesting link from PubMed. http://www.ncbi.nlm.nih.gov/pubmed/21295329
I do have 3 times the amount of lead in me. The mercury isn’t showing up but I am told once I chelate the lead that I will show very high levels of mercury do to lack of methylation for many years.
Where can I get these tests? I will ask my doctors to test but they tend not to listen.
Sterling –
Use Betaine. Research supports its use in lowering s-adenosylhomocysteine.
It is much less expensive than SAMe. The new formulation of Homocystex has 600 mg of Betaine in it – along with L-5-MTHF, MethylB12, P5P, R5P – so it is very comprehensive formula.
SAMe is VERY unstable as a nutrient. I don’t recommend buying it directly. Betaine as TMG is much more stable and just as effective – and way less $$$.
You can get the lab tests by clicking on the links above – at least the Methylation Test.
The MMA test your doctor should be able to order quite easily.
Given your heavy metal toxicity, the potential for you to be deficient in methylcobalamin is quite high.
Do NOT let your doctor test you for ‘vitamin B12′ because what that is simply serum cobalamin.
Serum cobalamin is WORTHLESS to the body until it is methylated. Given that mercury steals the methyl groups, cobalamin cannot get methylated which means you may be deficient in methylcobalamin.
However, I believe you are taking Homocystex and that contains methylcobalamin.
This shows how important it is for MTHFR individuals to take methylated nutrients.
Imagine how many MTHFR individuals are taking crap like folic acid and cyanocobalamin?
Then add the fact that many MTHFR individuals are highly toxic because they are hypomethylators which causes them to have elevated mercury and other metals.
Thus, they are not getting better while taking standard cyanocobalamin and standard folic acid.
Dr Ben
Thank you so much for putting up this information on your website. I’m in Australia, so I can’t order tests through Doctor’s data, but I will see my doctor here and organise the additional testing. I am heterozygous C677T and my husband is heterozygous A1298C. I don’t think homocysteine levels were checked. This was investigated after our baby was born at 18 wks and clotting was found on the foetal side of the placenta. They didn’t think mthfr caused my premature labour, as he was born alive. However they believe he may have been compound heterozygous and had clotting issues. It’s all confusing and after five years of infertility and proceeding to ivf, I don’t really understand why this was not investigated sooner. I had been given the impression that everything that could be tested, had been. At least they have now and we can get the proper treatment for the future.
I have had 4 miscarriages in the last 7 years with no live birth. Was diagnosed with heterozygous a1298c mutation in 2006 after my second m/c but was told that it has no impact on m/c as 47% of U.S population carries the same mutation. I will say that the hematologist put in about 6 months of research on this particular mutation and risk of miscarriage. I don’t know where to go from here. I had my serum folate tested several times and always came back over 21.7(labcorp). Was on prenatal vitamins at the time. B12 around 500. Not sure why the serum folate would be so high? Does that mean i have no issues metabolizing folic acid or does it suggest it doesn’t metabolize very well and circulated in my blood. I have been on prescription prenatals most of time since 2003. I’m concerned now about taking so much folic acid as it can cause cancer if taking too much for too long. Last pg I was put on Neevo, baby aspirin and prometrium and lost baby at 8 weeks.Just very confusing as most doctors do not know much about. One doctor wants me to go on Lovenox next time but said extra folic acid not necessary as my serum folate was above normal. Homocysteine has always been between 3 and 5 while on rx prenatal.
Lindy –
Serum folate measurements are not good.
If your serum folate is above normal, that can mean that the folic acid is not being converted into 5-MTHF.
Get your homocysteine levels checked AND your s-adenosylhomocysteine levels checked.
Homocysteine is not a sensitive marker – you need to measure s-adenosylhomocysteine.
Talk with your doctor and order this test –
http://www.healthegoods.com/methylation-profile-doctors-data.html
See if they can order it and bill your insurance.
If they cannot, you may order it from me and I’ll walk you through the results. I have free 15 minute consults and over that they are paid. We can make some headway in 15 minutes. If you need more, just let me know.
In my opinion, all parents need to be treated no matter what type of MTHFR mutation they have.
What is your husband? Need to test him for MTHFR mutations.
No one is considering an important equation.
Researchers and doctors both are not considering the fact that baby in your womb is made from your genes AND your partner’s genes.
Thus, doctors must test your partner’s genes also for MTHFR mutations and then understand the potential risk to developing baby.
If you are heterozygous 1298 and your partner is as well – or carries a 677 mutation – then the likelihood of your baby having two mutations exists.
In fact, at least a 25% risk exists as MTHFR is an autosomal recessive gene.
Autosomal recessive genes:
“Two unaffected people who each carry one copy of the mutated gene have a 25% chance with each pregnancy of having a child affected by the disorder.”
There is no way to test the homocysteine levels or s-adenosylhomocysteine levels in your baby so one has to assume if mother and father have MTHFR mutations – heterozygous or otherwise – then you have to treat proactively in order to prevent a miscarriage.
That said, it is foolish in my mind not to proactively treat for MTHFR in all situations because the baby may carry more that just your mutation – but the partner’s as well.
Again, serum folate could be high because it is not going through the MTHFR enzymatic process. It is being held up because the enzyme is mutated. Just because homocysteine levels are normal doesn’t mean s-adenosylhomocysteine is.
Serum folate can also be high just because…you’re taking too much.
However, you cannot take ANY standard folic acid. You MUST take 5-MTHF or L-5-MTHF only and combined with B6, methylcobalamin, vitamin B2 and TMG. I also highly recommend Krill Oil and EPA/DHA.
I highly recommend you also test:
- 24 urinary iodide to measure your iodine levels (women are commonly low)
- serum vitamin d3
- methylmalonic acid (MMA)
Read this:
http://doctorsdata.com/methylation.pdf
And consider this test as well:
http://www.holisticheal.com/health-tests/nutrigenomic-testing
Get your Methylation Profile so you can see what your s-adenosylhomocysteine levels are.
Get your partner tested and see if any MTHFR mutations exist.
Keep me posted
I want you to bring a healthy baby home!
Best,
Dr Ben
PS – there may be other things going on as well beyond the A1298C heterozygous mutation. Have you been tested for all other possibilities?
Thank you so much for your reply. I have been tested for antinuclear antibodies,lupus,Factor V Leiden,Prothrombin-FactorII.On Lupus panel the first time it showed a higher than normal Protein S Free(135%) but had it retested and showed 117%. Antinuclear Antibodies was fine.Anticardiolipin Ab,IGM,Qn was 9 and lab values are negative under 10. I thought this was borderline but geneticist said it was fine.
Now my real concern is that you said my folate levels are not good. I have been on prenatals for 7 years and had the serum folate levels tested once in 2004 and once in 2006.Both times it showed a lab value of over 21.7 with no exact number. I have asked every doctor that I have seen over the years (hematologist,OBGyn,Endocrinologist,Internal Medicine) and they all said that it was good to have a high Folic Acid.They didn’t flag my result on lab test as High either. I’m very concerned as I read that a high folic acid level can cause cancer. Should I worry about this? Is 7 years of taking 1mg plus food sources a concern? Is the Neevo prenatal fine for me to take. I was concerned about that specific prenatal as i read that it is equivalent to taking 7mg of regular folic acid.
My husband has not been tested. I will call to make an appt with the geneticist to have him checked as well. My mother lives in the Netherlands and was diagnosed with esophageal cancer a few years back. I mentioned to her that I have the mutation and she should be tested but doctors there do not even know what it is.;
Thank you so much for your response. Your website is a great source of information. I wish I could find a doctor here in the Houston area that specializes in MTHFR. Doctor wants be to go on Lovenox next time I get pg but not sure if that would give me a great chance of success.
Lindy –
Esophageal cancer is linked to MTHFR.
In my opinion, everything in moderation. There isn’t any nutrient that should be elevated in the human body as the human body – or any living thing – requires balance. If anything is out of balance, dysfunction occurs. Dysfunction leads to disease.
And – in my book – there is no disease – only dysfunction.
I would not stress or worry about your folate levels as stress and worry are not healthy nor are they effective at resolving anything.
Instead, I would evaluate your methylation, your husband, your MMA and get off any standard folic acid completely.
I would then get your serum folate levels retested once you are only taking 5-MTHF, active B12, B6, B2, TMG, CoQ10, EPA/DHA, nattokinase.
NeevoDHA is a decent prenatal to take. I don’t like the fact that it is not a comprehensive prenatal at all. It also contains just normal folic acid. Why??
http://www.neevodha.com/wp-content/uploads/NeevoDHA_PackageInsert.pdf
This one contains active folate and is comprehensive:
http://www.healthegoods.com/prenatal-pro-essential-packets.html
However, that one may not have enough 5-MTHF in it. If not, you can always obtain active 5-MTHF separately and increase to the dose your doctor recommends. But – again – it depends on what your husband’s MTHFR mutation is – if any.
Lovenox is a smart thing to do – but if your husband has the 1298 mutation, it is way more than clotting that is the issue – it is the lack of methylation.
This is where 5-MTHF, methylcobalamin and TMG come into play as they all increase methylation. Those with A1298C mutations are hypomethylators – and that causes developmental issues.
http://onlinelibrary.wiley.com/doi/10.1002/bdra.20670/pdf
Dr Ben
Thank again Dr Ben for taking your time to respond to all of my questions.
I took the regular Neevo instead of NeevoDHA.I think the Neevo has the metafolin form and some regular Folic Acid.
I have been off any supplement now for 3 months since my last miscarriage. You said I should get my levels retested. Is it a good idea to test being off the supplements first and then retest after i start taking the supplements? Do people with MTHFR always have to supplement or is it safe to just get folate from food? For the first 30 years of my life I never took anything. ‘
I will call my mother to make sure she gets tested as well. With that knowledge they might be able to treat her differently.So even having just one copy of the a1298c increases your chances of all types of cancers including esophageal?
I might take the opportunity to get a consult with you sometime soon. to further discuss this subject as I might have too many questions for you to answer online.
Thank you
Lindy,
I wanted to comment because I have had several miscarriages and want to share what I did with my last pregnancy and kept her alive. I was on heparin for 3 preg. and lovenox for the next all ending in miscarriages. I added Nattokinase and she lived! Follow what Dr. Ben says paying special attention to include nattokinase. I was not on any heparin or lovenox, only nattokinase, and baby aspirin. Blessings and well wishes, Tami
Tami –
Thank you for sharing. That is excellent to know first hand experience.
How much Nattokinase were you taking? Dosage?
Flow Fx by Seeking Health contains 100 mg of nattokinase NSK-SD which is a superior form of nattokinase. This equates to 2000 FU of nattokinase.
tami – did you take the nattokinase throughout your whole pregnancy?
Ps What are the normal levels of Serum Folate?
Lindy –
Lab values are dependent on many factors, including patient age, gender, sample population, and test method. The numeric test results can have different meanings in different labs.
It is important to ask your local lab and your physician.
Best,
Dr Ben
My story is crazy. For years and years and years…i did not get pregnant and had early miscarriage. At 35 i was beginning to think it was not going to happen for me. I decided to go through with a breast augumentation that i had been holding off on until “After I had kids” 2 weeks after my surgery…i found out i was pregnant. This was in March 2010.
Prior to my breast surgery i was on many supplements trying to get my body in the best state of health i could hoping for a speedy recovery and also trying to repair a shoulder fracture i had in January and Broken toes in November. I was taking a prenatal, dha, cellfood drops, drinking smoothies with super food supreme powder and also taking a “tissue repair” pill i had bought at the local nutrition store.
i was in AWE of hearing the news i was pregnant and became obsessed with WHY after all these years..i knew it had to do with something i was taking..intuition told me that….. my intuition also told me something was thininng my blood.
I was put on bed rest for placenta issues at 20 weeks until i was at 32 weeks. i then went to my doctor and said you will think i am crazy but this baby needs to come out by the 22nd of November—on November 24th she came out via emergency csection due to placenta abruption.( i just learned that placenta issues can be due to this mutation)
after she was born i began researching/googeling the supplemtents i was taking and attached the word pregnancy.
in August 2011 we found out we were expecting again and ten days later i miscarried.
i was not satisfied with the response “miscarriage happens more than you hear about” response
I had them run the the blood based off a family history of my father having blood clots ever since i can remember and a half sister having multiple misscarriages and a stillborn due to placental abruption.
I came back positive for heterozygous c677t mutation and normal for the a 129ac mutation.
my guess was the nattokinase along with my increase of b vitamins were the reason i became pregnant post suregery.
i am in post ovulation 2 week wait and now am terrified of miscarrying again or some of the other horror stories i have read about since being diagnosed.
i requested my lab results myself from quest and go see my obgyn tomorrow to discuss.
My degree is in Health Information Management and i left the field back in 1999 due to having very little faith in healthcare due to past experience and observation. I am wondering Dr.Ben if you can help.
Warm Regards,
Kelly
( i apologize for error this was sent from my not so smart smart phone)
Kelly –
Thank you for sharing such a powerful and personal part of your life. The more others read of situations like yours, the more they will realize the seriousness of MTHFR mutations – even if ‘only’ heterozygous.
I do think I can help you – I surely would like the opportunity to help increase the likelihood of you having a healthy pregnancy which brings a healthy little one into your arms.
For starters, do test your partner/husband for MTHFR mutation.
Also, need to test your Methylation Profile, homocysteine, thyroid, adrenals, clot study, D-dimer and others.
I’d be honored to spend 30 minutes working with you. There is much to a healthy pregnancy – even beyond a MTHFR mutation.
If you’d like, consider scheduling a consult here. 30 minutes is a good initial amount.
In health,
Dr Ben
Thank you Dr Ben.
I just got back from my OBGYN and as i suspected he told me that there is NO confirmation that it is linked to miscarriage and it is a very controversial issue and he doesnt even order these screens ( i knew that and thats why i asked his PA to send the order for bloodwork)
With that being said i would like to schedule a consult but should i send you my labs first? And how can i get my partner tested ? thank you so much for your speedy response!
kah
Dr Ben,
I was just told I have the MTHFR mutation , Double A1298C. I am 8 weeks pregnant. I have had 2 perfectly fine pregnancies with no issues and then had a tubal. Im not sure why my dr. tested me for this except bc of the tubal? Other than that NO miscarriages.. I am 25 and married. I was told I need to take heparin injections 3 times a day along with folic acid and baby asprin. I feel that maybe the injections are a little of an exaggeration. I always bleed a normal amount when cut and Am worried about putting something into my body if its not absolutely necessary. I am just curious if anyone else feels that the injections might be a bit much or am I being silly and should just do as the dr says? Also what type of Dr. would be best to get a 2nd opinion from on the subject??
Jill –
Being homozygous MTHFR A1298C sets you up more for reduced nitric oxide which causes a lack of blood flow – potentially – to your developing child. There is also the issue of elevated ammonia levels in those with homozygous A1298C. I highly recommend your doctor test your ammonia levels.
It is more the C677T MTHFR mutation that is known for the blood clotting issue – not the A1298C. HOWEVER, let it be known that the reduced nitric oxide production in those with A1298C is a risk factor.
Instead of heparin, perhaps methods to increase nitric oxide are more appropriate – such as L-arginine? Talk with your doctor about this – I am not prescribing it or suggesting you stop heparin or the baby aspirin. I rather am pointing out my reasoning.
L-arginine is a known vasodilator and so is niacin.
Sugar reduces the production of nitric oxide as well – so keep that to a minimum.
You should also not be taking folic acid. You should be taking Methylfolate or L-5-MTHF – definitely NOT folic acid.
If you switch to the L-5-MTHF, start low and work up. Those with A1298C MTHFR mutations may be sensitive to methylfolate and methylcobalmin.
Keep me posted – please!
I had a miscarriage at 9 weeks in 2007. Had a wonderful pregnancy and beautiful baby in 2008. We have been ttc since August of 2010. I miscarried very early in September 2010 and then again in Jan. 2001 at 9 weeks. I was diagnosed with compound heterozygous MTHFR. I was told to take baby aspirin and folic acid supplements. I was also told they they don’t believe this is what is causing my miscarriages. I took progesterone with my last pregnancy as well. We have now been ttc for 11 months (with no pregnancies). I have had 2 months where my cycle went to 35 days (I had been using OPK) and know I should have started around 28-29 days. It never took more than 3 months to conceive with the other pregnancies. I just turned 33 this month. I have scheduled a consultation to discuss the next steps with my Dr. in Jan. Do you have any suggestions for me to take to this appt? Please and thank you!
Ashley –
We’re you on birth control? These deplete folic acid.
Compound heterozygous can be a contributor to miscarriages or inability to conceive due to low methylfolate levels along with potential toxicity elevation. Toxicity elevation is likely in those with compound heterozygous because of low methylation and low glutathione.
Some suggestions to consider right now:
Taking folic acid is not effective. You have to take methylfolate.
I recommend trying HomocysteX - you may find success with this – read the review there and you may be pleasantly surprised
I also recommend considering Optimal Multivitamin – try 3 caps in the AM with breakfast and 3 caps at lunch.
Increasing your EPA/DHA levels is also critical so consider taking 2 capsules of Optimal Fish Oil daily with a meal – after dinner is great.
Taking 1/4 teaspoon of ProBiota 12 Powder is critical to establish healthy flora, immune balance and help absorb toxins in the gut so they do not get absorbed. There is a lot of research backing the use of probiotics in pregnancy – countless benefits.
Taking 2 drops daily of Liquid Vitamin D3 which provides 2,000 IU per drop is necessary to raise your D3 levels. D3 is needed for hormone production and immune support.
CoQ10 is an excellent antioxidant which is needed in those with A1298C and C677T. Consider 1 capsule daily with any meal. The form of CoQ10 must be quality otherwise it is not well absorbed and becomes worthless.
Than you for the information. I have been on birth control in my younger years but not in several years. All pregnancies were planned. Can you recommend how to find a Dr. In my area that is versed in MTHFR. Thank you.
Ashely –
Great doctors typically belong to these medical associations – find a doc near you from these sites
1. http://www.Naturopathic.org
2. http://www.FunctionalMedicine.org
3. http://www.AAEMonline.org
Finding one that is well versed in MTHFR is going to take some work…but this will at least narrow the field a bit!
Hi Dr. Ben,
I am 33, and I have been tryTTC for over 10 years. I have been married for over 12 years, and I have only been on BC for one month of my life – the first month of our marriage. I stopped taking it because it made my heart race more than it “naturally” does (I say naturally for lack of a better term and that’s what I’ve been diagnoseed when I’m tested by doctors).
After trying for a little over two years, we conceived while taking Clomid. It was our third round of clomid and would be the last as I could see myself acting crazy (which was also confirmed by my husband). I miscarried at 16 weeks. I started bleeding around 14 weeks, but was told to just take it easy. After we lost the baby, we were told the baby likely died at 12 weeks. We tried for almost two more years. Six months after laproscopic surgery to remove mild endometriosis, we conceived our son and had a successful pregnancy with few bumps in the road…with the help of progesterone (hospitalization at 30 weeks for an unknown reason, I was told I was dehydrated and likely had a virus). Our son came almost 4 weeks early but was healthy.
Almost two years later, I started to feel “old.” My energy was even more depleted than usual. I have always been able to sleep until awakened, and even then it was a chore to wake up. Well, when my son was about 18 months old and I was too tired to play, I knew something was wrong. So, with a history of Celiac in my family, mostly from the Australian side, I cut out gluten for 3 months and ate more veggies. My husband decided (the 3rd month of my being G-Free) for one month he would only eat vegetables. I wasn’t completely w/out meat, but I ate much less of it because of his wishes (he was training for a marathon). I conceived that month. I didn’t realize I was pregnant at the time, so I tested my G-Free diet by ordering a pizza. I ate it, felt drunk/dizzy/incoherent. I woke up the next day with a rash from the top of my head to the bottom of my feet. It’s the last time I’ve had gluten (except a few bites on special occasions). I miscarried soon after at 6 weeks.
Fed up, I went to another dr. I was happy with my old doctor, just wondered if I/we were missing something. That’s when I found out I have C677T. I believe I’m heteroz, but, until I found your website, I got mixed info on whether it mattered! It has been two years since I found out. Since then, I have been on aspirin and 4 mg of folic acid; then a year ago, we added Neevo; and now 3 months ago, added Folgard. I have endometriosis again, and had another lapro 1 yr ago. I suspect I’m sensitive to milk, so other than cheese, the only milk I have is raw goat milk in my cup of coffee each morning. We eat out of our organic garden. I have a fairly healthy diet. I’m at a loss at what else to do. I do recognize our child is a miracle and I am so thankful for him. But, knowing that miracles do happen, I would love to have another child. I would also just love to feel healthy, have energy, have normal heartbeats, and live life without always thinking about how to deal w/MTHFR.
I am submitting my LONG history with the hope, as you mentioned, it might help you in your research as well. Some other history that is interesting, one of my brothers has been having mild “heart attacks.” My mother has been tested and also has hetero C677T. She has had thyroid cancer, has a fibroid tumor, fibroids, and yet managed to get pregnant 7 times. She lost two children right after birth. She is type A- blood, I am type A+. So far, everyone I know with a mutation has type A blood. Is there a link between blood types and MTHFR mutations? How can some with the mutation have so many successful pregnancies while others struggle?
Also, a friend w/same mutation found a doctor in Fort Worth who, when she was ready to conceive, has her take heparin shots upon ovulation. My doctor won’t try this, she says it’s too risky and could cause a brain bleed. This friend now has 3 children. Have you ever heard of this protocol? Is it dangerous or helpful, being that the mutation causes us to clot easily?
I could go on and on about what drs have suggested for us to do/take to conceive. We’ve even been told to take Mucinex to thin our mucus (mine and husbands). Can you help us sort out the good information from the bad?
Thank you for your time and committment to MTHFR!
Helen
Helen –
Powerful story.
Thank you for sharing.
There is a lot that one can do to have a healthy little baby if the MTHFR is addressed properly along with the other issues that are present – such as endometriosis, celiac and so on.
A heterozygous C677T mthfr mutation can be serious for a celiac because these individuals are typically low in nutrients from the get go – especially vitamin B12.
I am working on sorting out the bad information from the good. Before I make any videos (already planning many for MTHFR), I am making damned sure my information is rock solid as I don’t want any more misinformation out there.
I make mistakes – we all do – but in topics like MTHFR – or in health – I do my absolute best to confirm, check and confirm again that my information is sound before sharing it with you all.
I don’t know if type A is related to MTHFR – I doubt it.
I highly recommend a consult as I have yet to make the video information available. My consults are booked out until 2012 and are available on a first come first serve basis.
I would love the opportunity to help you get the information you need to increase your chances of having a healthy child.
If interested, please call 800-547-9812 to speak with Jatone or Brandon and they will set you up with a consult.
In the meantime, have an excellent holiday!
Best
Dr Ben
Love your bio! I wonder if the ability to enjoy and learn about such a wide range of things is a benefit of this particular issue–I can definately relate!
I was also diagnosed last year with heterozygous C677T. I had 6 miscarriages and my second child, a beautiful little girl, has Down syndrome. That, the lifelong depression and the miscarriages were the obvious impacts, though having a sister with Spina Bifida Occulta and a cousin who gave birth to a child with DS should have been a dead giveaway. During the time we were having miscarriages over 10 years ago, the doctor noted the single C677T mutation but didn’t even mention it. Both of my kids were baby aspirin babies. We almost lost Katie at 8 weeks gestation. We had a bleed immediately adjacent to the attachment that would have caused a miscarriage if it had been even a few millimeters larger.
Interestingly enough, my son had an issue starting about 3 years old when he flipped from being a very focused, alert child, to a wild animal. At 2, I could stop him dead in his tracks with a single word nearly 100 feet away and he would sweetly return to me and tell me he loved me, in full sentences. By 4, he never stopped moving and would forget instructions given to him within less than 10 seconds. My pediatrician watched him running like a caged animal in our 4 year old visit and said, “We know what this is, but I’m not ready to medicate a 4 year old…” Two years later, on a whim, we tested his sleep and found his oxygen saturation bottomed out at 86% overnight with an average of about 92%–not good, but there was no obvious cause. Asthma meds helped–he could actually remember instructions for as much as 10 or 15 minutes. Miracle of all miracles, we could actually do a grocery store run without him running everywhere, out of control. The most frightening part of all of this was that he had this terrified look behind his eyes that cried out, “Mommy, I can’t stop myself! Help me!!!” At his 3 month followup, we tested did a full brain scan during the sleep study and found he was having “seizure like activity” almost all night and he would stop breathing during the episodes. After a trip to the neurologist, we identified it as a form of “central apnea,” breathing stopped due to brain issues, and they asked me if I wanted to start discussing anti-seizure meds.
Instead, we did brain therapy (neurobiofeedback) for the next 3 months. What they told me at evaluation recap broke my heart. His frontal lobe was advanced beyond his years–my 6 year old had the frontal lobe maturity of an adult–but the rest of his brain, particularly the left occipital/parietal region, was horribly undeveloped–the same area where the seizures had been found. In other words, he had been trying everything within his power to control his behavior but the impulses were coming so fast, even adult impulse control couldn’t make it better. At the end of the therapy, they were able to remedy the seizure issue, but the neurodevelopmentalist told us that the news was not all good. PJ’s brain scans showed lots of short frequency waves, but no long frequency, sustained wave patterns. Essentially, the nerves themselves were depolarizing (losing their charge) too quickly and that kept him from developing any brain wave patterns that took time to process. He would literally forget what he was thinking about if it took too much time to take it in or think about it. Classroom behavior was a nightmare. This issue caused ADHD like symptoms, but was, in fact, the opposite of ADHD. Instead of his brain being hypo-active like most kids with ADHD, his brain only had one speed–fast. Information that came in rapid fire stuck. Anything else bounced off as if it never got in–because it never did. They told us this was often the result of heavy metal toxicity, but PJ’s chelation challenge showed very little toxicity at all–a small amout of tin, but wnl otherwise.
That was several years ago. We’ve used an enzyme for gluten (we found gluten in his urine) and that has helped, and he takes Deplin like I do (I also take Metanx to round out the profile–and my mood). Without the deplin, my 11 year old goes in and out of clinical depression, including suicidal thoughts that manifested as early as 4 years old. His Hcy is also wnl as long as he stays on the Deplin. It may even be a little low: his nose-bleeds are pretty amazing. I haven’t followed up on any additional chelation, though it is possible that the chelation challenge test didn’t bring anything up because it wouldn’t let go yet. Chelation has its own risks. It’s interesting that you mention the inability to eliminate heavy metals being tied to the C677T mutation.
I will be eager to look through the rest of your website to see what we can do to deal with this going forward. I’d love to have your thoughts…
Hi Tricia –
Thank you for sharing your story and your son’s.
Heavy metals can definitely cause neurological issues. It is difficult to get heavy metals out of the brain – but possible.
Have you done a SPECT scan on him? Could be useful.
I would like to see him tested for:
- Amino Acid levels
- Organix profile
Keep him off of dairy and gluten – both.
There are certain nutrients you can give him – beyond Deplin. Too much Deplin can be counterproductive for him. You may check his dose or consider changing it to Metanx.
He needs to be on a:
- children’s multivitamin
- fish oil capsule – or Krill oil
- vitamin D
- probiotic
- liver support/NAC
- MTHFR support – like Deplin, HomocysteX, MetanX, etc
Many of these nutrients may be found in the MTHFR category but learning more about him is likely needed prior to him just starting these things.
Many times a provoked heavy metal test won’t show anything if he is blocked from getting them out in the first place – as you pointed out. His body has to be prepared for the test and then redone.
I’ve just recently brought in a product dedicated to brain inflammation as I am seeing it too often in those with MTHFR. It may or may not provide results but the formulation is designed specifically to reduce neurological inflammation and reduce oxidation of brain cells. It is called Optimal Brain.
Too much Deplin may be making him go 900 miles an hour also – as it creates so much Glutamate which is an excitatory neurotransmitter.
Perhaps offsetting that with GABA and L-Theanine along with finding the optimum amount of Deplin or switching him to MetanX.
Hi Dr. Ben,
Hope this post finds you and your family well and enjoying the holidays!
After spending time with the extended family over Christmas, we all discussed our ailments after I brought up your website. My mom, as mentioned in a previous post, was recently put on MetanX for compound heterozygous MTHFR (she also seems to recall that when I was diagnosed 2.5 years ago that I was compound too? I’ll have to check my dr’s records). She said MetanX has helped her with her fatigue…she no longer has to take daily naps; at most, weekly. What is MetanX? I noticed it in Tricia’s post as well. Do you suggest Metanx or Homocystex?
Thank you for ALL your help! Love your profile – my mum is from Oz (Toowoomba). Love reading about your Jackaroo days!
Helen
Hi Helen –
Toowoomba – love the Aboriginal names – lot of character in them!
MetanX is a prescription-only compound containing methylfolate, methylcobalamin and active B6. It is a great formula. It is in tablet form and does contain some additives.
HomocysteX is over the counter containing methylfolate, methylcobalamin, active B6, active B2 and TMG. These additional three nutrients are useful to further support the MTHFR enzyme and provide additional methylation support. HomocysteX is in vegetarian capsule form and is free of any additives.
Hi Dr. Ben,
Thank you so much for all of your answers. I have set up a phone appt w/you on the 10th. In the meantime, I called my OBGYN to have my records sent as I was wondering whether I was compound, homoz, heteroz, etc. I am actually homozyg for c677t (had been told hetero) w/low homocysteine. I just ordered homocystex, flowfx, liquid vitamin d3, and niacin. Should I change any of these supplements (they arrive tomorrow)? Also, we’re taking your advice and having my husband (and likely our son) tested! Now if I could only convince my 4 stubborn brothers…
Helen
Dr. Ben,
I miscarried last August at 9 weeks when a routine ultrasound showed no heartbeat. While waiting for my next cycle, I found out I was pregnant again in November, but was rushed to the hospital for emergency surgery a few days later as the pregnancy was ectopic and ruptured. I lost my left tube.
My RE ordered many blood tests including a thrombophelia panel and a check for APAs. The only thing found was one copy of MTHFR mutation, which my doc says is fairly common and doesn’t usually cause problems. He ordered my homocysteine levels to be checked anyway and they were normal. Now he says I will be fine if I just make sure to take extra folic acid.
From researching this myself, it seems like he should be doing more. I would love to hear your thoughts. Thank you.
Hi Kelly –
Which mutation you have? 677 or 1298?
In terms of women and pregnancy, my feeling is they should be doing as much as possible to make the healthiest child they can. You have one shot at it and they have a life to live based on our decisions as parents. The decisions we make now also affect their future children and your grandchildren.
Folic acid is literally garbage for those with MTHFR. WORTHLESS and I am sick of doctors recommending it. Don’t they read research??
Your progesterone levels need to be monitored closely along with your thyroid. Make them do this.
I’ll get back to you with more information when I find out which mutation you have – and I hope to have an article written tomorrow with more information as well.
two mc post two healthy pregnancies. two good pregnancies had aspirin taken during first trimester “just in case” b/c I had heard some people have clotting issues and I knew it was safe in early preg. while ttc#3 was not as compliant about taking aspirin or pre-natal vitamin. first m/c was tested as 46xx normal baby girl, 2 m/c was blighted ovum. Demanded fertility doc to test for MTHFR et al after 2nd mc bc I kne the standard was 3 mc before special testing (ridiculous protocol) Came up homozygous for 1298, with normal/low hcy. Was told that this was not something that would effect pregnancy, which I do not believe. No longer ttc#3 b/c I am 41 and my two kids have special issues (one Asperger’s, one ADHD w/ seizures) which I do believe are attributable to low methylation. We have used holisticheal.com to test their SNPs and they each have 13, and not all the same ones. Both however are compound hetero (meaning heterozygous for both 677 and 1298) and I believe 23andme shows my husband/their father as homzygous for 677 (has is overweight, inflamed liver, many health issues, joint problems, and not currently following any diet/supp regimen) My kids and I are GF and eat mostly clean diets with a few SAD infractions. We do numerous supps most of which are just standard vitamin/mineral at therapeutic (not RDA) levels.
If my children were vaccine damaged at all, I believe it would have been flu vax I received while preg with my first, and I received another flu vax while b/f her and right before the other child was conceived, and then I recv’d another flu vax while b/f him. I was cautious abt most vax (slower than scheduled) but unfortunately I always gave tylenol with each vaccine (lowers glutathione) and I believed that flu was very dangerous for infants and so wanted to prevent that. My Aspie has always been over-sensitive to sound.
My Asperger’s daughter (7) also has autoimmune thyroiditis.
I mention the vaccine thing bc of the two intersecting themes of my comment(methylation and autism) I am not anti-vaccine perse but rather anti-garbage (in the vaccines) and if the vaccines cannot work without the adjuvant of aluminum, perhaps we need to do something abt that (change the dosing schedule, check for SNPs prior to vaccination, find a less harmful adjuvant?)
Thank you for making the public aware of MTHFR Dr. Lynch.
Do you have the SNP panel available thru somewhere other than holisticheal.com yet? My kids were tested but I have not been. My husband was tested under 23andme and I don’t know how to read all the data to compare the SNPs.
Also do you know of a company testing for SNPs *and* APOE variants all in the same test? This would be great for families like mine who seem to be prone to Alzheimers and Arthritis and CFS.
THANKS!
Toni,
Reading through this forum http://forums.phoenixrising.me/showthread.php?10973-23andme-genetic-testing&highlight=23andme will help you understand how to access and interpret the raw data in the 23andMe test results. The current version 3 of the 23andMe profile includes a test of the APOE variants.
Thank you for the informative web site.
I recently had testing done and had a homocysteine level 5.6 umol/L and was found to be heterozygous for a1298c. I have had many miscarriages.
Here is a little more detail: I got pregnant with my son the first cycle we tried at age 37. He is healthy and wonderful. Since then we have been trying on and off over the years, probably about 4 years total of trying. We seem to get me pregnant easily, but they don’t stick. I have had 6 positive pregnancy tests in that time. 3 of those pregnancies have lasted well into the first trimester, one into the second trimester, but I know that growth had stopped at 8.5 weeks. All three of those showed abnormal growth on ultrasounds. I have had numerous other pregnancies that I believe were chemical pregnancies because of the symptoms I have had and the kinds of bleeding. I am now almost 45. I still have great FSH and estradiol numbers. Progesterone does not seem to be an issue. I have a healthy diet and lifestyle, and have been doing Traditional Chinese Medicine for three years. I know I’m an “older mama,” but even for my age, my success rate seems low.
The doctor who ordered these tests thinks that because I am heterozygous for the mutation, that is not causing a problem. She suggests I take baby aspirin and folic acid because of the repeat miscarriages. If I’m understanding this, it would be better to take folate. I switched to Thorne Prenatal vitamins recently, but am thinking this might not be enough–especially because I don’t usually take a full dose. I don’t know if you are able to recommend a B vitamin on this little information, but if so I would appreciate greatly it and am happy to answer questions to help with your research.
Hi Keran –
Heterozygous A1298C MTHFR mutation may or may not be playing a role here. We have to remember that there are many genes at play and they interact with each other.
BPA – the ‘estrogen mimic chemical’ that is in everything has been researched extensively. It prevents implantation of the egg on the uterus for one.
Given that you keep miscarrying after carrying for so long makes me think it is not progesterone – but it sill may be. Using Clomid may be useful – talk with your OB/GYN.
I do recommend a more comprehensive approach for your pregnancy – one that includes additional antioxidants and nutrients.
I also recommend you consider eliminating all gluten from your diet and reducing inflammation.
Autoimmunity is common in women and may lead to recurring miscarriagees.
Consider testing your:
- Thyroid including antibodies against it
- Serum ferritin
- CRPhs
- methylmalonic acid
- homocysteine levels
- female hormone panel
- markers found in the studies provided above
Dr. Ben –
How often should folks have their homocystine levels be checked (while being treated for MTHFR mutations)? At the time I found out I was homozygous C677T about a year and a half ago my homocystine level was 7.4 which they say was fine. I’ve not been tested since. I don’t think I’ve ever had my s-adenosylhomocysteine level checked.
Thanks,
Emily
Emily –
7.4 is a bit elevated – not much. It is in the normal range but Dr Rawlins says he sees people doing better when homocysteine is about 6.5 or so.
Next time you go in for routine blood work, add on homocysteine to it.
SAH is something to consider if you are not improving but I am finding it not very reliable to test for. I have never seen it elevated – not yet anyhow.
Hi, I wanted to answer the question of 1 copy MTHFR and miscarriage and NO other factors. My younger sister has 1 copy c677T and NO other factors. She has had 2 miscarriages now. The 2nd she even started the MTHFR “protocol” of Heparin, Baby ASA, Neevo, Folic Acid. It’s so heartbreaking to me for my sister’s losses. I have been blessed with 3 pregnancies and 3 deliveries. They weren’t easy ones by any means, but I still had healthy children in the end. I have 1 copy C677T and Protein S Def. I found out at 26wks with my 3rd child. My sister had a SAB at 13wks so I was tested d/t my current pregnancy(at that time) I worked at an OB office for almost 9yrs and I was lucky enough to work for a GREAT Dr who did believe in these factors and pregnancy loss. We tested many patients for this and I can say, we have had alot of 1 copy mutations and no other factors and RPL. We have had (sadly) stillbirths at 33wks, 36wks on women who didn’t know at that time they had the mutation. They had Placental Abruptions causing the Stillbirth. I could go on and on too. I have made MTHFR a passion since it “hit home” for my family and I.
Sarah -
Thank you for sharing your experiences. I would love to have an article by you here at http://www.MTHFR.Net for all to read.
If you would like to do this, please write an article on MTHFR – any aspect you like – and send it to me via the Contact Dr Lynch page.
Include a ‘About the Author’ paragraph and I will include that as well.
Readers here will definitely enjoy reading about your experiences – and you may help a lot of families.
Thank you
Sarah,
The “MTHFR protocol” does not include folic acid. Rather, it means stopping any supplements that have folic acid in them, and taking the active form of folate which is L-5-MTHF (L-5-methyltetrahydrofolate), 5-MTHF, or Metafolin.
Hi. I am freaking out a ltitle. I do not have a MTHFR diagnosis yet but my doc (and ND) just attended a conference last weekend and learned a lot about MTHFR and thinks I may have some form of a mutation. We are doing a blood test this week.
Her gut feeling is based on this:
1) I have a beautiful 4.5 year son who has 3 midline defects, asthma, food allergies, and autism. He’s doing great but clearly his body is struggling.
2) I had a miscarriage at 5ish weeks a few months before conceiving my son. This would’ve been my first pregnancy. So my son was my second.
3) I have some midline defects so thinking there is a history in my family.
4) I have had issues with anxiety and depression at times in my life.
Also, my doc did not mention this but in reading your articles, I see that high serum folate levels can point to this and my last serum folate level was last summer and it was 20.4. Of course, it was not flagged as high or a problem at the time. My B12 was also high. I have been taking prenatals since being pregnantw ith my son as he still nurses. And I alsways took an extra B-complex. So basically, I probalbly have way too much fo the bad kind of folic acid in my body.
And here is the part that is freaking me out. After spending a long time thinking we would not have another child as our son needed so much attention, we recently decided we were ready and tried to conceive. Just this month, A FEW DAYS BEFORE my doc contacted me about the MTHFR. I am 7DPO and do not know yet if it was a successful try. But I am FREAKING OUT. I have started on a 1 mg 5-MTHF supplement (3rd day on it in today) and I am feeling sure that if I am pregnant that it is all doomed.
What should I do? What should I ask my doctor to check for and what supplments should I talk to her about? If I am pregnant is there any hope for this baby?
Thanks for any advice.
Hi Joanne –
Please call your doctor as they may have a plan of action for you.
I recommend taking additional methylcobalamin (active B12) along with methylfolate. If you only take methylfolate and do not have enough methylcobalamin on board, then the methylfolate will not be able to do anything – it will get ‘trapped’.
Please read this article on Prenatal Supplementation for MTHFR.
Now that you have started on 1 mg of methylfolate, your doctor is educated about MTHFR and you are going to read the Prenatal Supplementation for MTHFR, you have significantly increased the odds of having a healthier pregnancy.
Please do be as calm as possible as stress/anxiety are not healthy during pregnancy. Talk with your doctor about taking Ashwagandha to help calm your nerves – or taking something like Nerve Tonic by Hyland’s.
I am glad to hear that your doctor is versed in MTHFR.
May I ask who your ND is? I would like to list them on the Find a Doctor page.
Keep me posted.
Dr Ben, thanks for your fast response. I am much calmer now. I just had my blood test and should know by the end of the week if I have MTHFR. I also asked my doctor to check my homocysteine levels and recheck my serum folate and B12. I asked about the SAH level too but they did not seem to know what I was talking about so I may have to make do with just a regular homocysteine level for now.
Thanks for the link to the Prenatal page. Very helpful. I will definitely talk to my doctor about all the information there. And I am going to look into the active form of B12 ASAP.
I just took some Nerve Tonic (which we always have on hand).
My doctor has only just started learning about MTHFR so I am not sure if she would consider herself well versed yet. She heard about it at a ped conference she was at last weekend and it clicked in her head because of my son’s health issues and the fact that I had (ironically) just gotten the green light health-wise from her to go ahead and try to get pregnant. She only talked to me about getting the 5-MTHF form of folic acid but nothing about active B12 or any of the other things I have read online about possible blood clotting issues and so on. I am sure she is going to learn a lot about it now. She’s great, though.
Joanne –
Sounds good. Glad you are feeling better
Nerve Tonic is great stuff!
I greatly caution you and your doctor to GRADUALLY work up on methylfolate. If you don’t, your son may worsen and you may as well. The side effects caused by methylfolate are not fun.
Dr Ben,
Is my taking 1mg right now okay or do I need to work up to the 1 mg? I have only be taking the 1 mg for a few days.
We are not starting my son on it until we get a blood work up done. And I think I may actually take him to a biomedical doctor use to working with kids with autism and well versed on MTHFR. I love my doctor but with my son, I want to be really careful. He is doing wonderfully right now making huge gains with his SLP, OT, osteopathy, and homeopathy and I do not want to rock the boat.
If you feel fine and not experiencing side effects on the 1 mg of methylfolate – you are ok.
Many doctors – versed or not in MTHFR – tend to overdo the methylfolate or folinic acid. Make sure to inquire how they deal with MTHFR.
I am currently speaking at three medical conferences this year on MTHFR – and more in the works. Docs need to learn to be careful…
(I don’t seem to be able to post a reply to your very last comment so I am replying again here.)
I don’t *think* I am having an side effects. But I have been having a sort of car sick feeling off and on the last few days. Of course, this was my main early pregnancy sign when I was pregnant with my son so I had thought it might mean I was pregnant.
This is going to be really difficult. How will I know if a symptom is because I might be pregnant (or if I end up actually being pregnant) and what is a side effect of too fast an increase in 5-MTHF? WIll too fast an increase hurt me or a possible pregnancy?
I am finding this so frustrating. If only I had gotten my doctor’s message two days earlier this would all be simple because I could have worked this all out BEFORE getting pregnant. Now I have to try to balance all this with the safety and thoughts of a potential pregnancy.
I am working on not being too stressed but it really is a less than optimal situation and really takes away from what should be a joyful thing. I hope you really get the word out about this so all people can be screened long before they ever reach this situation.
Joanne –
Which MTHFR mutation you have? C677T?
If you feel nauseated – that may be a side effect. You can tell by taking some niacin in the form of nicotinic acid – 50 mg. If the nausea goes away, it is due to the methylfolate. You can also stop the methylfolate for a day and see if it goes away.
Too much methylfolate has not been shown to be harmful in pregnancy – but I don’t recommend it. No more than 4 mg unless indicated by lab work or symptoms needing more improvement.
I am joyous that you actually know you have MTHFR now. It is WAY better knowing now than 32 weeks into it!
We don’t know yet if I have the mutation. That is what is so maddening. We have to currently operate on the assumption I have the mutation AND the assumption that I am pregnant (I won’t be able to test for pregnancy until late next week).
I had a blood draw yesterday to test for the MTHFR and should know by the end of the week. But I think we will all be rather shocked if I don’t have the mutation based on my health history (2 midline defects, anxiety, depression), my family’s history (maternal side – lots of cardiovascular stuff), and my son’s health issues (3 midline defects, life-threatening food allergies, autism).
About the possible side effects of increasing too quickly: I currently am having an on and off again slight car sick feeling. I just realized I first had a fleeting moment of it the day BEFORE I started taking the 1mg 5-MTHF. So I am thinking maybe not a side effect? Still, that would be too early for pregnancy so I am unsure.
BUT if it is a side effect, it is not hurting the possible baby, right? So if I can manage it, would it be better to stay on the 1 mg of 5-MTHF so the possible baby has the best chance of getting the methyfolate it needs for it’s neural tube development?
Already having a special needs (and very high needs) kid I really want to do what I can to give this possible baby the best chance for optimal development.
If you want to give your potential baby the best environment ever, take some deep breaths and try to relax. The stress hormones you are creating are not good for you or a developing baby. I am homozygous for 1298, my kids are compound hetero. I didn’t find out about my MTHFR till after the two kids and after two miscarriages (the third and fourth pregnancies were the m/c) What must have helped me was the little bit extra folate and the baby aspirin I was taking “just in case” b/c I had heard some people’s clotting caused them to m/c.
Thanks, Toni! You are absolutely right. And believe it or not I really am trying to stay calm. It helps me to write out things and to come up with the best plan.
More than anything I am just frustrated. It took us so long to decide to try to have another and for a long time we were decided to definitely not have another (which was a very sad place to be). And finally, when we chose hope and joy and I really try to overcome my admittedly more negative thinking tendancies, I feel like we just get socked with another stupid thing. Literally, if we had heard from my doctor two days earlier we would have put off the trying to conceive and be able to just address this MTHFR thing in a completely stress-free way. And it just feels like this is how things always happen for us. I know that is not helpful thinking and I am really trying to let go of it. It is just hard. I love my little son so much and want the best for him and a stress-free pregnancy and a sibling with the least amount of developmental issues would be best for him too.
I totally get it. My two are spectrumy. First born has sensory processing disorder, anxiety and asperger’s (the first two just go along with asperger’s but those were the order she was dx’d) And my son has a seizure disorder and maybe asperger’s, but def the other two (spd and anxiety) and ADHD. We treat everything naturally (lots of vitamins)
We were ttc#3, had the two m/cs, found out abt MTHFR, a few months later got the official ASD dx, and just decided with two kids having special needs, we just needed to count our blessings and quit while we were ahead.
Good luck. I am sure everything will turn out fine. Child #2 is a handful here but the best thing that could have happened to the first kid
He is like built-into the family therapy for learning how to deal with “annoying.” Hahah. 
I am hoping for that for us, that a sib could be the best thing for my son! I know it will be hard and a big adjustment. But I feel it could be great too.
Sorry for your losses! That is hard. Glad you figured out what to do for your family even if it was a hard decision. It took us so long to decide what to do. But I feel good about it overall, even with this lastest hiccup.
My son has SPD too! And verbal apraxia, although with a fantastic SLP he’s now talking up a storm. Just in the last two weeks he has started asking questions constantly. It’s great.
For all the struggles he’s had health-wise and developmentally, he’s still so full of joy and light. We’ve been treasting him naturally too. Osteopathy, homeopathy and naturopathy so far. And speech therapy and OT too.
Dr. Ben,
I really need help, im 19 and I just lost my daughter on January 25th of this year i was 23 weeks and 4 days along she was my first born, pathology came back said there was chorioamnonitis and infarct, my doctor told me that the infract was cause there looked like there was a spot in the placenta that blood flow stopped going to and that the chorioamnonitis might have been cause by how quick and soon labor came plus in the previous ultrasound on Jan. 2 2012 there was no inflamation at all and pthology said it was in the early stage. she was alive all the way up to when she got stuck during the birthing. anyways they took a blood draw and said that my homocysteine levels were off and something about heterogenus MTHFR mutation. I have an appointment this month to see someone in hemotology. and im scared about what they are going to say whether it was because she got stuck that she passed or if it was because of this condition or both. and i was wondering if itry again how will affect both the baby and i and how can i keep these levels down so that this next baby will have a real chance at life??
You mentioned above “Homocysteine-lowering vitamins do not lower plasma S-adenosylhomocysteine in older people with elevated homocysteine concentrations.”
Thanks for all your input. Do you know what lowers S-adenosylhomocysteine in older adults? How about younger adults and children? Do B12, B6 and/or B9 mkae a difference in elevated S-adenosylhomocysteine?
Dr Ben,
Can you give me any advice regarding a male patient with severe depression and anxiety, a past diagnosis of Bipolar Disorder who I just found to have a homocysteine level of 4. I don’t know what my next step should be. I think this may be playing a role in his illness and want to investigate further
Mary Braud, MD
Dr Braud –
MTHFR may be playing a role here – the A1298C form especially. I recommend testing for both MTHFR variants.
The lower homocysteine may be due to supplements he is taking or a possible CBS mutation which is draining methyl groups – or he is supplementing with high dose vitamin B6 as P5P.
Bipolar is linked to excessive glutamate levels – quite a few various research articles on this.
Testing for 24 hr urinary amino acids is also likely useful. Doctor’s Data provides useful urinary amino acid results typically.
Evaluating histamine levels are useful as a marker of methylation.
CoQ10 as ubiquinol 1 gram, nicotinic acid 50 mg to start and work up to 500 mg BID if tolerated, EPA/DHA 5 grams, Ashwagandha, Magnesium, NAC, Tryptophan
Niacin helps lower glutamic acid levels.
Reduce glutamic acid in the diet:
- wheat
- dairy
- soy
- egg
Few things:
- evaluate diet. Eating every couple hours with some form of protein?
- caffeine intake
Need to be careful with folate and methylfolate in those with bipolar as it can increase mania – due to increased neurotransmitter production; however, adding in niacin as nicotinic acid can help reduce the manic episodes.
Hope that helps -
Dr. Ben,
My 12 year old son has a heterozygous double mutuation and a very low homocysteine level. His homocysteine is only a 4.2. I am told that this is dangerously low and signifies a neuro immune syndrome where his T cells are are suppressed. If this is the case, what can be done to help? I suppose it’s still a basic methylation issue, with a need for the proper dose of folate and B-12. Anything else that could help increase T-cells? He has chronic lyme and other infections and just can’t seem to get well.
Lucina