MTHFR Consultations

UPDATE: 10/3/2012

Dr Lynch is no longer offering consults.

Please visit www.MTHFRSupport.com to find a doctor.

 

56 Responses to “MTHFR Consultations”

  1. Elizabeth September 9, 2011 at 3:44 pm # Reply

    I am ecstatic to discover your website! Thank you for taking on this incredibly important health issue. I am a poor methylator. Two years ago Iab work showed that I am homozygoud for the A1298C gene mutation but NOT the C677T mutation. I do not see this scenario referenced yet on your web-site. As an RN and a Certified Nutritionist, I have done enormous amounts of research on this topic, and found little to no information to help me. I have numerous health concerns (including chronic fatigue) and am convinced that this is the core root of the problem. I react poorly to methyl donors as I have attempted to take DMG (everything in me aches when I take this), methylcobalamine SL (same reaction as DMG), and even some problems taking P5P (although I am able to take 25 mg now without such a severe response.). I have been told that taking supplements should not cause such pain/issues. I know I have a serious problem… but am at a loss for what to do about it. The physician uncovered the methylation problem treated me (DMG and then methylcobabamine) as he does all of his patients, and when listened to me explain my experience with each one, he told me to stop taking them, but didn’t have any other suggestions for me. (This is from a well respected Holistic physician’s group!) I would sincerely appreciate any and all information that you can direct to with!

    • Dr Ben September 9, 2011 at 7:58 pm # Reply

      Elizabeth –

      I hear you loudly. The A1298C mutation is quite common – even more so than the C677T from what I’ve read.

      A1298C is more complicated to approach as the biochemical pathways are…well…complicated.

      Have you tried sauna? Epsom salt baths? Coffee enemas?

      I will get a post on this soon enough – and videos – and podcasts ;)

      Dr Ben

      • Elizabeth September 9, 2011 at 9:05 pm # Reply

        Thank you for your prompt response to my inquiry. As I re-read my inquisition, I am mortified to see my grammatical errors… I apologize for those! (Apparently the anticipation of some long awaited ‘help’ temporarily clouded my writing skills!!!) I am more than eager to see/hear/read what you have to say about the A1298C methylation issues! I have been experimenting with L-5 MTHF (Designs for Health)… and sprinkling approximately 1/4 of a capsule on some food. This is enough to cause my hands to feel like they have arthritis! I should tell you that I am (perhaps due to this A1298C issue) extremely sensitive to most anything I take. For example, I have taken Energetix homeopathic detox products before and I only need a few drops (sometimes 2 will do it!) to feel/see a big reaction!!! I have read some of Dr. Amy Yasko’s books/research and I know that from the Autism standpoint, methylation issues can be provoked with tiny amounts of supplementation and cause all kinds of symptoms in Autistic children! Some call Chronic Fatigue Syndrome the adult version of Autism as it is biochemically similar issues! (BTW… I have a son that is on the high functioning Asperger’s Syndrome spectrum. What a coincidence, she said sarcastically!) Also for the record, IF I do an epsom salt bath, I can only soak for 10 minutes or so before I start feeling poorly — AND there will be a black residue at the bottom of the tub! If I sit in a far-infared sauna…. it takes me 10-15 minutes to start sweating (did I mention I’m generally cold — yes– subclinical hypo-thyroid issues!). 20 minutes will drain me for the day! I have never tried coffee enemas but I have read great things about them in Dr. Sherry Rogers books though!

        When you say “soon” I hope you really mean it because I cannot wait to get some real answers to this issue. I do realize that I will most likely need to consult with you — for my sake as well as that of my two children! (My mother passed away from battling Metastatic Cancer of the Cervix 21 years ago…. and I am also convinced that this was the core of her problem!!!!! I don’t want any of us to have to repeat that scenario or anything like it!!!)

        THANK YOU – Thank You – thank you for starting this website!!!

    • Darlene Marie April 3, 2013 at 2:45 pm # Reply

      I am a registered nurse also and would like to get in contact with you. I just learned I am MTHFR heterozygous C776T and daughter who is pregnant with a child who has HLHS Hypoplastic Left Heart Syndrome, which is very serious and life threatening. She is to deliver on May 7th At Magee Hospital in Pittsburgh and we are told the baby will have to be placed on a ventilator to see if it is strong enough for one of several heart surgeries in a week or they could give the baby comfort care and allow it to die, please if you have any info that could help as a nurse I would deeply appreciate it. I must start from scratch for my self and need to know where to start.

    • Dawn Linder June 19, 2014 at 5:02 pm # Reply

      I know this post is from 2011 but did you ever find out what the protocol is for A1298C Homozygeous double coped mutation. The reason I am asking is I have this as well, and now its 2014 and I can not find anything either. I will wait to hear back from you. Thank you

  2. Jill September 13, 2011 at 7:59 pm # Reply

    Elizabeth,
    I have the same problem with methal donors and don’t know what to do either. Suggestions?

    • Dr Ben September 13, 2011 at 8:48 pm # Reply

      Jill –

      You need to order a Methylation Profile test. This test looks at how one is methylating – or not methylating – and then provides an appropriate action plan based on the lab results.

      A combination of MTHFR genetic testing along with a Methylation Profile Test is a good idea.

      I am working on laboratories now to give MTHFR.net very low rates on lab testing. I currently have an agreement in place for the Methylation Profile. I am still working on the MTHFR genetic testing.

      Best
      Dr Ben

      • Jill November 2, 2011 at 3:19 pm # Reply

        Please tell me again as I can not find my notes — which methylization test should I take. Also wondering, my daughter who is just six has been shown to have low B12 levels and some prfound tingling in her limbs. Could this be due to MTHFR and should I have her tested too? I have MTHFR c677T

        • Dr Ben November 3, 2011 at 6:57 am # Reply

          Jill –

          I highly recommend you get your daughter on some HomocysteX right away. She can swallow the capsules as they are quite small. Her B12 status needs to be increased and she may also have elevated homocysteine.

          Try 1 capsule a day of HomocysteX for your daughter. If she appears in happy spirits, this is a good amount. If she begins to get irritable and grouchy, then skip a day. Try 1 capsule every other day. If she still seems grouchy at this point, reduce to 1/2 capsule every other day.

          I would definitely test your daughter for MTHFR.

          I am researching lab testing currently as I’ve been happy with the Methylation Profile but am not entirely happy with the ION Panel.

          I have since discovered a better lab for those with MTHFR mutations and it is called the Cardio ION Profile by Metametrix. It is very comprehensive. The methylation aspect of the Cardio Ion is not as good as the Methylation Profile by Doctor’s Data but it provides a ton of other useful information that is badly needed – especially for those wanting to obtain a full term pregnancy, reduce cardiovascular risk and optimize their health.

          I will be offering the Cardio ION Profile starting this week at HealthEGoods.com. Once it is listed, you will find it in the Lab Tests category or the Metametrix category (under Brands).

          Cardio ION Profile is going to run about $925 and insurance won’t cover it. I want to state that it is worthy to order initially as it may discover some critical excesses and deficiencies.

          I do not profit on these lab tests at all. I offer them purely as a service.

          In health,
          Dr Ben

          • Jill November 18, 2011 at 4:05 pm #

            We just got my two daugthers tested. the doc just ran a gentetic test through labcore. Both girls do not have my C667T, they have A1298C only one copy each. Both have normal homocysteine. My husband has had high blood pressure from his twenties and gets horrific migraines. I bet he gave them the copies. With this defect, her more natural doctor gave her Prothera Vitatabs and Douglas Labs Bcomplex with metafolin and intrinsic factor.

            B Complex:

            http://www.douglaslabs.com/pdf/pds/200765.pdf

            Prothera:

            Perfect for kids, or adults.

            New, improved formula now contains Metafolin®**
            L-5-MTHF.

            These chewable multi-vitamin and mineral wafers are formulated with the finicky palates of children in mind. Kids who taste-tested this product gave their unanimous approval. Adults who have a hard time swallowing regular pills liked them equally well. Two tablets daily provides three times the RDA levels of vitamin C and E antioxidants, and twice the RDA for most B-vitamins. Added minerals in easy-to-absorb forms round out the formula. VitaTab® Chewable contains no artificial colors, flavors, or sweetening agents. Only all-natural flavors and sweeteners are used. Samples for taste evaluation provided on request.

            Suggested Use: Children age 4 and over: Chew 2 tablets per day with meals. Adults: Chew 2 tablets, once or twice daily with meals.

            VCW 60 chewable tablets

            Supplement Facts
            Serving Size 2 Tablets

            Amount Per 2 Tablets % Daily Value

            Calories 10

            Total Carbohydrates 3 g 1% †

            Sugars 3 g *

            Vitamin A (56% (2,500 I.U.) as natural carotenes (alpha, beta, beta-cryptoxanthin, zeaxanthin, and lutein) from D. salina and 44% (2,000 IU) as vitamin A palmitate) 4,500 I.U. 90%

            Vitamin C (as L-ascorbic acid) 180 mg 300%

            Vitamin D3 (as cholecalciferol) 1,000 I.U. 250%

            Vitamin E (as d-alpha tocopheryl succinate plus mixed tocopherols d-beta, d-delta, d-gamma) from soy 90 I.U. 300%

            Vitamin K1 (as phytonadione) 80 mcg 100%

            Thiamine (as thiamine mononitrate) 3 mg 200%

            Riboflavin 3.4 mg 200%

            Niacin (as niacinamide) 20 mg 100%

            Vitamin B6 (as pyridoxine hydrochloride) 4 mg 200%

            Folate (as Metafolin®** L-5-methyltetrahydrofolate) 400 mcg 100%

            Vitamin B12 (50% as methylcobalamin and 50% as 5-adenosylcobalamin) 12 mcg 200%

            Biotin USP 300 mcg 100%

            Pantothenic Acid (as d-calcium pantothenate) 20 mg 200%

            Calcium (as calcium citrate) 100 mg 10%

            Iron (as carbonyl iron) 4 mg 22%

            Iodine (from potassium iodide and kelp) 150 mcg 100%

            Magnesium (as magnesium citrate-ascorbate complex 100 mg 25%

            Zinc (as zinc glycinate chelate***) 5 mg 33%

            Selenium (as selenium amino acid complex) 70 mcg 100%

            Copper (as copper glycinate chelate***) 0.5 mg 25%

            Manganese (as manganese glycinate chelate***) 2 mg 100%

            Chromium (as chromium nicotinate glycinate chelate***) 120 mcg 100%

            Molybdenum (as molybdenum glycinate chelate***) 75 mcg 100%

            Boron (as boron aspartate-citrate) 1 mg *

            Vanadium (as bisglycinato oxovanadium) 50 mcg *

            Choline (as choline bitartrate) 5 mg *

            † Percent Daily Values are based on a 2,000 calorie diet.
            * Daily value not established

            Other Ingredients: Fructose, dextrates, vegetable stearine, silicon dioxide, natural cherry flavor, natural orange flavor, maltodextrin, magnesium stearate, and licorice extract.

            **Metafolin® is a registered trademark of Merck KGaA, Darmstadt, Germany
            ***Albion® Laboratories

            Is this good? He also gave her fish oil, Cal/mag/D…

          • Dr Ben November 21, 2011 at 10:07 pm #

            Jill –

            That is a pretty good formula yes. Cal/Mag/D and fish oil are also great recommendations. If she is not yet on a probiotic, needs to be.

            Need to find out which mutation your husband has…

  3. Wendy November 16, 2011 at 6:15 pm # Reply

    Helli Dr. Ben,

    I am 30 yrs old & my husband is 31. We have been trying to conceive for 11 yrs. I have pcos & c6772 hetero. I have had 3 miscarriages & lost 4 babies. The only thing my dr. said totry is folgard, lovonex and prednisone & metformin. I just cant go thru another loss. Any suggestions? Thank you!

    • Dr Ben November 16, 2011 at 11:57 pm # Reply

      Wendy-

      I have heard of this same scenario recently. There are many factors for miscarriage and being heterozygous C677T is minor – yet when combined with other things – may not be minor. Need to test your husband for MTHFR mutations as well. He may be passing them onto baby.

      Definitely need to resolve the PCOS as that is going to cause your progesterone levels to be inadequate.

      Prednisone: what for??

      You have to be fully willing to change your diet and lifestyle if you want PCOS to resolve naturally – and it can. I’ve helped women out of it before and 100’s of other doctors have as well.
      You have to be committed though.

      I would have your doctors check your:
      – thyroid
      – cardiolipin
      – antiphospholipid syndrome
      – hashimoto’s thyroiditis
      – celiac disease
      – CRPhs
      – serum ferritiin
      – comprehensive female hormone panel
      – test husband for MTHFR mutations

      In the meantime, do not get pregnant until you isolate the cause of the miscarriages. You can if you have a good doctor.

      Get the testing done above and see what they find. If nothing, I recommend scheduling a consult with me.

      Love to see you have a little one in your family.

  4. Lila White January 17, 2012 at 2:52 pm # Reply

    Glad to see this website. First learned of MTHFR because of my son having high functioning autism. The more I learned, the more I’m convinced that my husband’s family has this deletion. Other maladies in his family: schizophrenia, bipolar plus my husband developed a deep vein thrombosis with pulmonary embolisms last summer. The doctors could not give us a reason since none of the usual causes were there. He’s been on Coumadin since the event. I ask his Dr about Nattokinase, but she didn’t really know anything about the supplement. Finally a substitute doctor (my husband’s Dr. was on maternity leave) ran homocysteine levels and they were elevated. At this point, a lot of light bulbs were going off because he was starting to talk about things that I’ve learned at Autism conference. Did a little research of my own when we got home and found http://www.ncbi.nlm.nih.gov/pubmed/15670035 “Homocysteine, MTHFR and risk of venous thrombosis: a meta-analysis of published epidemiological studies.” So I immediately started giving my husband the same supplements that were recommended to my son for HFA; methyl B12; DMG w/methyl B12 & folinic acid, and L-MethylFolate. My husband has a return appointment coming up and I am definitely going to insist that they test for MTHFR. Hopefully, the supplements have improved his levels enough to keep him off of their pharmaceuticals. Not crazy about him being on coumadin.

  5. Ginette January 20, 2012 at 4:08 am # Reply

    Dear Dr Ben,
    I would like to do a consultation with you but I want to make sure I have enough information for you to help me. My son is diagnosed pdd-nos he is 6 years old and is heterozygous c677t and a1298C. His homocysteine level is ok. He is extremely distracted and seems much more ADD than anything. He has had chelation in the past for high urinary porphyrins. (Which I will be testing again on Tuesday) He was gluten free casein free for 2.5 years then we did NAET and introduced the foods again and didn’t notice any change whatsoever. He has been getting strep infections lately and is a poor sleeper – either having nightmares or wakes at 4:00 for the day. He is extrememly inconsistent with his behaviors – doing well some days (happy and more focused and some days sooo inattentive and cranky). I have a metametrix 3400 NY triad profile and wonder what other info/labs would be helpful. I am wondering what supplements you recommend for him and how we can help him. It’s been a long 6 years and we have tried so many different biomedical therapies/supplements…they all seem to blend. He is currently on augmentin for strep and we give him probiotics but that is the only supplement we are currently doing right now. (oh I did give him zinc this AM because he is chewing on his sleeves, jacket, blanket – anything he can chew on)
    Any suggestions are greatly appreciated.
    Thank you,
    Ginette

    • Dr Ben January 20, 2012 at 9:06 am # Reply

      Ginette –

      I am sorry to hear of your son’s symptoms.

      I see some things which make me suspect heavy metal toxicity – the high porphyrin test. Has he been chelated for heavy metals?

      The MTHFR mutation that he has, compound heterozygous, definitely throws off his neurotransmitters. I suspect he has other mutations which are contributing to his symptoms – beyond MTHFR. I soon will have a lab test which will help identify these so we can work with them and around them.

      NAET I do not believe in. Don’t rely on that to eliminate allergies or food intolerances. These foods have a big impact on neurotransmitters and must be eliminated long term.

      No wheat. Ideally no gluten.
      No dairy.

      Start keeping a journal of his days – and what is eaten – and what is done. See if you can find patterns in his behavior. Food is a huge component here and so is the environment.

      There is WAY more to do for a compound heterozygous that goes beyond homocysteine levels being optimized – yet docs don’t realize that.

      Once I get the test available, order the test and once you receive the results, a consult should be scheduled.

      For now, keep him off all gluten and casein – completely. Keep him fed throughout the day – smaller meals but each one having some form of protein.

      I’d also recommend you get him on ProBiota 12 Powder – 1/4 teaspoon after dinner and 2 hours after you give him Augmentin. If you give it earlier than that, the Augmentin can kill the probiotic. He also needs to be taking Saccharomyces Boulardii – 2 capsules in the evening. These both are CRITICAL for his digestive health.

      I also recommend 7 drops of Liquid Vitamin D360 ONCE A WEEK – not daily. This provides 2,000 IU per day dosing – just done once a week to make it easier on you and him.

      Consider giving him 1 chewable tablet of Optimal Multivitamin with breakfast and 1/2 tablet with his lunch. This provides essential minerals in their well-tolerated and absorbed forms along with effective forms of B vitamins – including methylfolate and methylcobalamin.

      I would also consider giving him 1/2 tablet of Active B12 with Methylfolate. This is a sublingual form of methylcobalamin and methylfolate. A 1/2 tablet is recommended in the beginning as we want to ensure he responds well to lower amounts first.

      Consider giving him 1 capsule of Magnesium Plus before bed along with 1 capsule of Ashwagandha. These may help reduce his nightmares.

      There are more lifestyle and dietary changes along with specific supplement suggestions but are impossible to recommend without a consult and additional labs.

      • Ginette January 20, 2012 at 7:46 pm # Reply

        Dr Ben,
        Thank you for your quick response and I will definitely look into those supplements for Tyler.

        Yes, we have done IV chelation with Tyler for about 9 months. This was about 2 years ago – a lot of lead, nickel, and uranium was drawn out. Do you think this is something which will have to be done throughout his life since he seems to continue to accumulate the heavy metals?

        Tyler was never vaccinated so the contact with heavy metals must be environmental.

        Also – we live in NY – so our physician must order any labs – is that correct?

        Thanks,
        Ginette

        • Dr Ben January 20, 2012 at 8:20 pm # Reply

          Ginette –

          Yes your doctor in NY must order the labs directly.

          Those with MTHFR mutations do accumulate metals and chemicals more so than others. Detoxification is a life-long process – not a one-time shot.

          Keep in mind that Tyler’s heavy metal load could have come from you while in utero. You should be tested as well.

  6. Carolyn Owen January 21, 2012 at 2:40 pm # Reply

    Dr Ben,
    So great to see this website. I first heard of MTHFR when my son who was born premature at 26 wks and also suffered an in utero stroke. He participated in a stroke study and it was found he had C667T. I was told it shouldn’t matter for him but if he was a female, that down the road estrogen could have affects. My son has CP, but otherwise seems healthy. 2 yrs prior to his birth, I suffered a PE with birth control pills being the only found contributing factor. I was told, don’t take hormones again. In 2008 I suffered another PE early in pregnancy before Lovenox treatment was started; so clearly there is a hormone connection. I requested to be tested for MTHFR and I too have C667T, and normal homocysteine. In 2010, I suffered a third PE, no known trigger, Coumadin for life sentence. In the last 3 yrs I have had other thing like irritable bowel that by my own trials find may be connected to dairy, strange mild headaches, back pain and stiffness in the morning. These latter things, I assume are nutritionally caused, so very interested to hear MTHFR may have a connection. Any suggestions for my son or myself are very welcome.

    • Dr Ben January 23, 2012 at 7:10 am # Reply

      Carolyn –

      It has NOTHING to do with sex and MTHFR. Given that your son has MTHFR C667 – he needs to be on the proper protocol that is right for him – and you need to be on one that is right for you.

      Normal homocysteine is not the only lab marker to determine blood clotting. Research shows that low methylfolate levels along with low methionine are indicative of increased pulmonary thromboses.

      What is ‘CP’ – sorry – too many abbrevs to remember in medicine.

      Too much estrogen is linked to clotting- yes. But in your son’s case – I doubt estrogen is the reason. MTHFR 677 causes strokes..

      IBS is definitely related to diet and digestive flora – and also a healthy gut lining. Low methylators – such as those with MTHFR mutations – are more prone to digestive disorders.

      You both need to get on a MTHFR protocol if you have not yet started one. A consult is needed to get you on the right track.

      • Carolyn January 26, 2012 at 3:21 am # Reply

        Thank You Dr Ben,
        I will have to get my questions and answers together and schedule a consult.
        CP = cerebral palsy – due to stroke and prematurity. Of course I want to give him the best odds at brain health. I also think there is a connection between his gut and his dystonia as in when his digestion is sped up his dystonia is lessened. I think?

        • Dr Ben January 26, 2012 at 7:47 am # Reply

          Carolyn –

          Gut/Brain connection is very real. Foods create neurotransmitters so there is no question there is a link.

          Please avoid all wheat and ideally gluten – and dairy products. It is a difficult transition at first but very worth it in the end – for all of you – not just him.

          Right now, consider getting your son on 1 capsule of Optimal Brain daily.

          Look forward to working with you and your son.

  7. Jessica January 24, 2012 at 9:03 pm # Reply

    Hi Dr. Ben,
    My husband found your website while researching MTHFR. We’d love your advice on our situation.

    We started trying to get pregnant in 2009. Had no issues getting pregnant the first time, and everything was great until the 12 week checkup. The doctor couldn’t find a heart beat with a doppler, so he performed an ultrasound and the baby had passed around 9.5 weeks. He chalked it up to bad luck, everyone has at least one miscarriage and told us to try again. My next pregnancy was a chemical. My OB ran some blood work, discovered that I had homo c677t and put me on extra folic acid, baby asp. and a prenatal with extra folic. I asked for Lovenox; she said too extreme, not needed.

    The next pregnancy, I carried to 10 weeks, before we had the same scenario; no hearbeat on the ultrasound. Less than a month later, I got pregnant again with twins. This time, my doctor put me on lovenox. I carried the first twin to 8 weeks, then it passed. The second one to 13 weeks, before discovering no heartbeat again. We heard the heart beat the day before we found out we lost the baby.

    I started seeing an RE who advised that I was not taking the lovenox shot early enough. He placed me on the shot four days after ovulation. I was on NEEVO prenatals, folgard, folbic, baby asp. and the shot. NOTHING. I went through about 8 rounds of trying to get pregnant with this combination and cannot even get pregnant now. The doctor did a lap, removed a small amount of endo and said I should be able to get pregnant. Still nothing.

    Any advice on the miscarriages and the treatment prescribed or why I’m not having any luck getting pregnant now? We used fertility drugs with the RE and inseminations.

    Thanks for your help,

    • Dr Ben January 25, 2012 at 7:29 am # Reply

      Jessica –

      Sorry to hear of your struggles.

      There are many reasons for infertility and miscarriage.

      Taking fertility drugs are not the answer in my mind. There is some imbalance in your body that must be restored and drugs are not repairing that imbalance – they are merely putting a bandaide on it – if that.

      You cannot force fertility – the body is truly inherently wise at what it can handle and what it cannot. Combine this with the MTHFR C677T homozygous mutation and it makes it more complicated.

      With the right laboratory tests, diet, lifestyle and nutrients, I firmly believe many can become fertile and carry a baby to term – and deliver a beautiful little one that is healthy.

      Given that you’ve miscarried early so many times, I question your progesterone levels. I don’t see any doc working in that area with you yet.

      Lovenox, baby aspirin, methylfolate (about 4 mg), methylcobalamin (about 5 mg) and a comprehensive multivitamin, CoQ10, probiotic, vitamin D3 and cal/mag are needed in my book for a healthy MTHFR C677T homozygous woman – and – perhaps some added progesterone as well. That said – diet is critical and so is evaluating thyroid, adrenals, sleep, your environment, stress, etc.

      I’d like you to order some bloodwork and urinalysis and then schedule a consult.

      Ask your doctor to test:
      – Comprehensive female hormone panel
      – Thyroid panel: TSH, T3, T4, rT3, anti-TPO, anti-TG
      – CBC with chem panel

      I’d also like you to avoid gluten (at least wheat) and dairy products. Completely.

      I have nutrients specific for optimizing pregnancy for those with MTHFR mutations but a consult is needed first I believe – and ideally some testing.

      We can greatly increase your odds of having a child – will take some sleuthing – but the outcome is a lifelong reward ;)

      • carolyn hunter February 3, 2013 at 6:54 am # Reply

        I stumbled on your site while doing constant research to help myself attain as optimal health as possible and noticed a woman whose child awoke at 4 am. Just contributing my experience: I have had for MANY years hashimotos thyroiditis, have had in past Vasculitis 2 x, autoimmune pancreatitis 2 x , gastritis, gout, thymus cancer metasticized to lung cancer, deegenerated disc disease with many misssing discs, etc etc and worst of all (poossible immune) or secondary Addisons Disease., requiring ever increased Hydrocortisone up to the lsteroid level used for treating autoimmune pancreatitis. I have early am awakening with shaking and weakness, always ameliorated relatively soon thereafter …by a dose of 20 or 40 mg of HC.

        I suspect that your patient whose child has the early am awakening may not have been awakened by nightmares, BUT WAS/IS IN FACT AWAKENED BY COMBINATION OF LOW BLOOD SUGAR AND LOW CORTISOL FROM ADRENAL INSUFFICIENCY……JUST THOUGHT YOU MIGHT WANT TO CONSIDER THAT.

        I am 74 and was diagnosed and have has addisons symptoms for over 35 years.

  8. Kylie January 31, 2012 at 7:01 pm # Reply

    Hello,

    I am so glad I found this website! I have 2 copies of the A1298C gene mutation. I have recently recovered from a long illness with lyme disease. I do still have fatigue among a few other problems. What do you recommend for this gene mutation? I do not find any information on it.

    I also need to have my oldest son tested. He is 7 years old and has some ADHD symptoms as well as an odd stutter at the end of his words. I would love to somehow have him tested for this gene.

    Thanks for all the information you have posted!

    Kylie

    • Dr Ben February 1, 2012 at 3:41 am # Reply

      Kylie –

      Please do get your son tested for MTHFR.

      There are many things you can do for A1298C and Lyme. I am working on preparing more information for people and will publish it. Issue is I’ve been so busy with consults – my time is limited.

      I am going to have to further reduce how many consults I allow in a week.

      For now, really focus on a healthy digestive system. The key is to limit ammonia production internally and process it properly with nutrients, diet and lifestyle.

      • Lisa-Marie Lane February 17, 2013 at 4:05 am # Reply

        Dear Dr. Ben,

        I just found out that my 14 yr old daughter has 2 copies of A1298C. She has been dx with ADHD by 5 yrs old and been on medicine since. She also has anxiety and recently, 6 months ago started taking Lexapro as well.

        She started having pain in her knees in Oct last year. By Dec I took her to a Ortho Dr to see if it was joint pain from growing. After X-rays and 2 exams they asked if she has been around woods, thinking it may be Lyme. We live in Northern VA where Lyme has become a huge epidemic! I have just finished being treated for Lyme at the end of last year – it was through that process I became aware that I had one copy of A1298C. At that point I had my daughter tested.

        We finally found a doctor who would treat the Lyme, with more than a 3 week dose of Doxy, but this doctor was excessively expensive and seems to be leading us down a path we do not want to go.

        All of the info the doctor gave us seems in line with what we are finding here, but she has not mentioned it is directly related to the Mthfr homo mutation. Wheat/ gluten/ casin free diet. Avoid all dyes / processed foods, supplements: OTC allergy meds to control hystime, which is causing joint pain. Meth B tablets, multi B, fish oil, omega 3 only, l-lysine and l- glutamine, dha and GABA to help calm Niro transmitters. Suggested clelation via IV ( we are not ready to go there $8 to 10 thousand dollars for treatments)

        Could all of the new symptoms be due to the tipping point– over load of her body no longer being able to detox itself? She is also very tired/run down and over whelmed with everything that is going on. Where do we look for a doctor who could help us manage this in relation to MTHFR, lyme, adhd, anexity, in Northern VA area? She has had all of her vaccinations.

        Many thanks for any feedback!

  9. Ginette February 5, 2012 at 4:00 am # Reply

    Hi Dr Ben,
    I wrote to you a few weeks ago about my son, who is a compound heterozygous – I just found out I have the exact same mutation as my son. I took Deplin today – 15 mg and was so exhausted I almost immediately fell asleep and felt tired all day. The Dr prescribed it for my son but I wanted to see how I felt on it before I have it to him. Do you have any insight as to why it would make me feel so tired? Now I’m afraid to start my son on it.
    Thanks,
    Ginette

  10. Tricia February 16, 2012 at 10:10 pm # Reply

    I was so happy to see this website and to see that research is being done on MTHFR. I feel like I have been dismissed by so many doctors that my homozygotic MTHFR gene mutation has nothing to do with my 6 recurrent pregnancy losses.
    I have taken baby aspirin and folic acid to no avail. I am hoping to find a doctor that will be more aggressive in treating me and hopefully having a successful pregnancy.

  11. patty February 24, 2012 at 11:10 pm # Reply

    I also have mthfr…..i have had 8 pregnancies 1 i lost at 5months i ended up with hellp syndrome…..i almost died and lost my son after 12 days….since then ive been on asprin folic acid progestrone and lovenox and still miscarry between 6 to 8 weeks so this last time i was only on folic acid baby asprin….my drs said taking lovenox and progestrone doesnt mean i will go full term:(……….i dont know wat to do cause my first one i was on nothing and made it that far…….im just tired losing all my babies!!!! and i feel as they dont care all i get is there is hope try again……

    • Dr Ben February 25, 2012 at 12:18 am # Reply

      Patty –

      Sorry to hear about your lack of help and miscarriages.

      Which MTHFR mutations you have?

  12. Kim March 22, 2012 at 6:25 pm # Reply

    I would like to make an appointment for a consultation with you but want to know if I can have an appointment for not just one person (myself, my husband, my children) but instead a comprehensive appointment for my family?

    We are a complex family of mthfr and other health issues. We have 3 heterozygous 677, 1 compound heterozygous 1298 & 677 and 1 homozygous 677. I could not afford 5 separate appointments that I’m sure I will need followups for.

    I understand that each person is unique and will have their own set of rules to follow but I am hoping that with a deeper understand of what to supplement and what to watch for. Do you do comprehensive family appointments where you can give a general guideline for how to treat everyone in your household individually?

    Kim

    • Dr Ben March 22, 2012 at 6:56 pm # Reply

      Hi Kim –

      I just did this yesterday for a family. It took 1 hr to go over 4 people.

      There was an initial consult which led up to the family consult – the first 30 minute consult was for a very difficult child – who by the way is doing much better now ;)

      Look forward to talking with you

  13. Kimberly April 25, 2012 at 1:24 pm # Reply

    Dr.Ben,
    I’m about to schedule an hr consult. Just got results from you yesterday. C677T homo. Should I order methylation panel first?
    Also, in terms of other tests done before consult- I have very high Dopamine, Norep,Gaba and body isn’t breaking down these or Serotonin so I have a reaction to any supplement that effects nuerotransmitters .(feel like I’m going crazy). I’ve heard you talk about people’s reaction to methyls due to other mutations. If I already know I have elevated nuerotransmitters and I don’t want to take anything that will make them higher, but instead something that will help the enzyme break them down…what tests should I do ? what can I take to help this process?
    I’m not sleeping or eating much right now, my body is actually vibrating. My ND says she doesn’t know what’s exactly wrong with me and for me not to take anything , so I’ve been stuck and not doing well at all. She says it’s a hormone imbalance combined with enzyme issue, so everytime a hormone rises or I take anything…it pushes nueros higher. We need to figure out why they’re not breaking down.
    Besides the questions you listed above, what info can I prepare before consult that will help you? I have wellness panel, thyroid panel, neg for leaky gut & parasites, slightly elevated mercury & lead- took 4 out of 6 fillings out last month.hormone panel showed very high testosterone & dhea..pregesterone high due to cream use which I stopped using. took 500mcg folate w/NAC for a week, did ok. Did 1mg & added B12 & had horrible almost mania type reaction.
    In the meantime, is there any supplement that I can take to either bring down my excitotorys or help me calm/sleep?….I’ve had reaction to Gaba,Theanine,Insoitol,taurine,tryptophan,Lithium Orotate,phenibut,melatonin. .

    Thanks,Kimberly

    • Dr Ben April 25, 2012 at 6:55 pm # Reply

      Kimberly –

      Given your history, a methylation panel may be a good idea prior to our discussion; however, the main issue appears to be relating to neurotransmitters – which is linked – yes – but we may be able to make some headway right away. You may have a COMT and MAO A mutation.

      I have ways to help calm them down. I am currently researching other methods as well – actually just this morning I have been researching GABA and Glutamate imbalances, why and how to address them.

      • Kimberly April 25, 2012 at 10:02 pm # Reply

        This morning I hadalready ordered a consult for Monday, so I guess we can discuss then on what future tests or steps to take. Meanwhile, I will steer clear of Methyls.I’m taking Niacin and B6 with Magnesium., Epsom salt baths and activated Charcoal at night.
        Took 250mcg of Folate today to test and sure enough a few hours later I felt as though I was drugged; joints in hands ached, lethargic, dizzy, headache.

  14. Bobbie June 2, 2012 at 3:12 am # Reply

    i have recentlyfound out i am homozygous for mthfrc6772t during my testing i have a positive ana. is there a correlation of the two. i ill find out in the next month a for sure on the lupus. i started asa 81mg and 4mg of folic acid.,and a b complex vitamin with a prenatal and dhea. when i go to rheumo should i ask for anything else. also i hae had tohave 4 d&c’s

  15. Michela June 4, 2012 at 5:26 pm # Reply

    Hi Dr. Ben,
    I am so happy to have found this site. I recently suffered two mc in the past 8 months. The first one had Trisomy 15. They said it was just a fluke since Trisomy 15 is so rare. Then after my second one I told them that there had to be something wrong because I am the only one out of 6 of my sisters with kids to mc. Someone ordered the MTHFR test and I found out I am homozygous A1298C. I am having a hard time finding doctors who know much about it. I am currently working with a reproductive endocronologist who has put me on folgard prior to trying to concieve and said they would put me on Lovenox when we do get pg again. They have not ordered any further tests. I am just wondering what other tests I should demand, and make sure they stay on top of and monitor should I get pg again? I don’t want to go through another loss and am praying for some information without doctors disregarding that this MTHFR gene is a problem. I also know I have Hashimotos. I see an endo for that and during my first pregnancy my levels were very good. They monitored me every 4 weeks. I have a bunch of other health issues that are starting to make sense. And some they dont have an answer for. Right now I am concerned about the pregnancy portion and want to make sure I do everything right and that they test for the proper things and put me on the right meds/vitamins/shots. Any help would be greatly appreciated! I go to see a doctor tomorrow afternoon and am going demand based on your reccomendations. I am sick of being given the cold shoulder and told that I am young. When I went in at the age of 23 complaining of urinating blood, difficulty walking and throwing up bile….the doc said it was bad gas and to go home. I told them no, I felt it was more than that. I had over 100 stones in my gall bladder and my surgeon said I was the worst and youngest case he had ever seen and that I almost ruptured. I have had high cholesterol since I was a kid. I also had an episode when I was 24 where I woke up from a deep sleep because my heart was fluttering and I couldn’t breath. I blacked out and stopped breathing for about a minute my husband said and then I woke up in a cold sweat, couldnt see or hear. When I went to the ER they did some blood work and the only thing they found was my liver enzymes elevated and protein levels were low. But couldn’t explain why this happened. I currently get numbness in my feet and lost feeling in the right side of my leg. I am just sick of being told that I am young. Reading a lot of these things makes me feel sane again knowing I am not just making these feelings up in my head etc…but also nervous to know that a lot of docs don’t know about this gene and what I can do to try and reverse some of its effects. Again any help would be appreciated on what I should demand to have tested and should take. We are planning on trying again in August…we haven’t ruled out trying to do natural, but have begun discussing IVF in order to do PGD to ensure the baby has no chromosomal abnormalities. I just don’t want to go through this again. Thanks again Dr Ben!

  16. Kerrie Ann July 16, 2012 at 3:36 am # Reply

    Dr. Ben,
    I have recently suffered my third consecutive miscarriage, all occurring between 10.5 and 13.5 weeks gestation(occurred in a 2.5 year span). Before theses loses, I thankfully had one successful pregnancy. After my second loss, I had many tests done but the fertility doctor didn’t seem to see anything wrong so I took my results to my regular obgyn. He also said he didn’t see anything but then he said, “I notice that you have 2 copies of A1298C. I’ll write you a script for 4mg to take with your prenatal. It’s just a shot in the dark so let’s try it.” He didn’t make it seem very important and the fertility doc didn’t even mention it so I took the extra folic acid but didn’t think much of it. Around the 7th week of my most recent preg. I read some articles concerning a link between too much folic acid and autism so I stopped taking the extra 4mg of folic acid immediately. 3.5 weeks later I found out I miscarried via ultrasound.
    So i was wondering what your thoughts are?
    Could the two copies of A1298C have contributed two these recurrent miscarriages?
    I’m at a loss and feel it’s time to give up.

    • Dr Ben July 16, 2012 at 6:15 am # Reply

      Kerrie –

      The A1298C MTHFR mutation may have contributed to your miscarriages – but there are plenty of other potential issues as well – such as low progesterone, unknown clotting disorders, environmental exposures, excessive estrogen, high NK cells, etc

      I do recommend a 1 hour consult so I can get your history and make some recommendations which may help you and your doctor(s) get you on the right track.

      Folic acid is not the best recommendation anymore – the better recommendation is a mix of folinic acid and methylfolate – for those who are pregnant.

      Please call 800-547-9812 to schedule a consult or you may begin to RSVP here on the consult page.

      I hope to work with you and evaluate your situation. If I feel it is not wise to try again, I will tell you; however, I typically find at least a few things which were not done properly and once corrected, they may increase your chances of a healthy, full term pregnancy ;)

  17. Robin August 10, 2012 at 11:00 pm # Reply

    Dear Dr. Ben,

    I recently had a RPL panel and discovered I have homozygous a1298c (2 copies). My doctor prescribed a prescription prenatal and 4mg folic acid. I have since began taking methylfolate instead and added methy B12 and pyridoxal 5 phosphate after doing some independent research. My question is about the use of baby aspirin. My doctor did not recommend it. Which honestly is good for me because just two days of use can cause severe gastrointestinal distress/pain. Does homozygous a1298c need baby aspirin? Are there more stomach friendly alternatives to baby aspirin? Finally, do you recommend consultation with a hematologist for this condition?

    Thank you for any help you can provide.
    Robin

    • Dr Ben August 12, 2012 at 7:55 am # Reply

      Hi Robin –

      I have not seen a reason why one with A1298C needs to take baby aspirin; however, you may want to take Lovenox just to be on the safe side. RPL has many causes and if your partner has some genes which cause clotting and they are passed on to your developing child, then another RPL may occur. There is a Turkish study which proved this.

      I would look for an OB/GYN, integrative physician or naturopathic physician who is knowledgeable about MTHFR.

  18. Moni August 19, 2012 at 2:05 pm # Reply

    Hi Dr Ben,

    My son is 3 and has autism. I just gone a testing done through Yasko and the results indicate the following:

    MAO A – he has a double mutation of R297R

    MTHFR – he has 1 mutation 3 and A1298C

    BHMT 2, 4, 8 double mutation

    SHMT 1 mutation in C1420T ( hetero)

    NOS 1 mutation of D298E ( hetero)

    Please advise if I can give him anything to help with his condiction.

  19. Angela August 20, 2012 at 3:08 am # Reply

    After stumbling across your website I am more confused than ever. I have compound heterozygous MTHFR both the C677T and A1298C were detected. I went and got tested because my father had blood clots and found out that he has leiden V and 4 other blood mutations or disorders. I went to my dad’s doctor and he told me that I am asymptomatic and to take a folic acid supplement for the rest of my life. I have been doing so for 3 1/2 years now. I had my son 2 1/2 years ago and I had a healthy pregnancy. My husband and I are wanting to start trying for baby #2 and so I thought I would research MTHFR again. I wanted to make sure that I was taking the right amount of folic acid…currently taking 1800 mcg. Then I read stuff from this website that contradicts everything I have been told. I need some clarification. Thank you so much for your time. I really want to make sure that I am doing everything I can to have another healthy pregnancy.

    • Lynn_M August 22, 2012 at 6:25 am # Reply

      Angela, your doctor told you to take folic acid for the rest of your life. You had a healthy pregnancy while following that advice. And now, if you’ve read much of this website, you know the advice given here is that for a compound hetero, folic acid is not helpful and in fact competitively inhibits the methylfolate form that you need. Furthermore, you should also be taken methylcobalamin and probably other cofactors. This advice isn’t just a personal opinion of Dr. Ben, it’s based on the latest scientific research.

      I don’t think it’s clarification about anything said here that you need. There is no confusion on this website about which supplements are most appropriate. I think you may be experiencing some shock that your doctor could have recommended a lifetime of taking something inappropriate for you. And maybe you now don’t know whom to believe. Unfortunately, based on the comments posted here, a lot of doctors still recommend folic acid for MTHFR patients. It takes a long time for medical practice to reflect the latest research.

      It seems to me that, given you are trying to sort out the conflicting advice from your doctor vs. Dr. Ben, that you will need to research the literature yourself. Look up PubMed studies. Look at the material in Dr. Ben’s resource list.

      I commend you for your effort to educate yourself about the best course for a healthy pregnancy.

      • Angela August 22, 2012 at 9:44 pm # Reply

        Thank you so much for the reply. I think you are absolutely right…I am in shock that my doctor has prescribed something that is not beneficial. I do want to make sure that I am taking the proper steps in making sure that I have a successful and healthy pregnancy. Although my first pregnancy went smoothly, my son was born a month premature. I just want to make sure that I am taking the proper supplements. I feel that I live a healthy lifestyle…we exercise, eat fruits and veggies, don’t eat a lot of red meat, etc. I am MTHFR compound heterozygous…asymptomatic (according to my doctor). I have been going through the articles and am trying to find where it describes what supplements are recommended for a person with a copy of both the C677T and A1298C. I have read posts from others that Dr. Ben has really helped. I can see through the resources and articles that a lot of research has been done…could you please direct me to the appropriate article that discusses the supplements that compound heterozygous should take. I would like to print it out and discuss it with my doctor. I would really appreciate it. Thanks so much for your time.

        • Lynn_M August 23, 2012 at 2:53 am # Reply

          Angela, there is no article that specifically addresses what supplements should be taken for compound heterozygous MTHFR. There isn’t an article with a specific protocol for A1298C, either, although there is an article about A1298C.

          However, Dr. Ben has written a protocol for C677T: http://mthfr.net/mthfr-c677t-mutation-basic-protocol/2012/02/24/. And in response to requests for an A1298C protocol and an A1298C/C677T protocol, he has said to follow the C677T protocol.

          If you haven’t done so already, I highly recommend listening to Dr. Ben’s audio presentations about MTHFR. I think he addresses the compound heterozygous situation more in those. He has posted a transcript of one of the presentations, so maybe you can find something to print out there.

  20. Melanie Polk March 17, 2013 at 3:19 am # Reply

    Dr. Ben,

    I am so glad to find this site!!!! I was diagnosed homozygous for the C677T mutation last year but cannot find a doctor who really knows anything about it. They all say your homocystein is high but don’t worry about it. It s just going to be that way! I finally found Spectra Wellness in South Tampa, Florida who is working at healing my gut. The kinesiologist stated that my liver, gut, adrenals, hypothalamus, pituitary gland, and endocrine system were not functioning properly. oh and the Thyroid. I gained 60 pounds in 3 months 7 years ago and my health is going downhill ever since! i’m afraid with my knowledge of Biology and Chemistry that the leaky gut syndrome will only return without righting the methylation issues related to the genetic mutation. HELP!!!! I have been researching and trying to find help for seven years. I know you are packed is there a good doc down here in Florida, or can you help my doc at the wellness center if he is willing. They seem open here to the newest thoughts. They just put my C1 in place with soundwave technology and I stand straight now and my limbs are no longer falling asleep and im sleeping much better! Im also not grinding my teeth or sucking my tongue any more.

    Thank You for putting together this site!! I watched the video and I actually followed most of it. I saw the protocol for my condition but I don’t want to try it without guidance. I was taking intrinsi b folate by metagenics but I’ll check the label for the L. I look forward to hearing from you soon :-)

    Melanie Polk

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  22. Brenda May 29, 2013 at 3:01 am # Reply

    Dr. Lynch,

    I recently found out that I am heterozygous for A1298C and my oldest son is heterozygous for A1298C and C677T. Can you explain to me how this impacts my husband and other 2 children? Since I do not have the C677T mutation and my son does, does that mean my husband has it? Do my other kids have it?

    Thank you!

  23. mahnaz June 17, 2013 at 7:01 am # Reply

    Hi Dr Ben!I am a 25girl with 2 abortion. I had been lots of experiments so far. I did not have any problem except hypothyroidism. But newly my genetic doctor tests my MTHFR gene that shows I have heterozygote C677T and A1298Cmutations .please help me what should I do for my next pregnancy. Thank you.

  24. Polly Maclan July 29, 2013 at 4:49 pm # Reply

    Dr. Lynch,

    I am grateful to have found your website and am trying to develop an appropriate protocol for trying to conceive and sustain a healthy pregnancy. I have been diagnosed with multiple sclerosis, P.C.O.S., as well as heterozygote 4G/5G polymorphism in the PAI-1 gene and homozygous C677T mutation in the MTHFR gene. I struggled with calcium oxalate kidney stones and candida overgrowth for extended periods and have in the last couple of years been free of these issues, which after reviewing this site, I now believe were related to MTHFR.

    I conceived 6 years ago and miscarried around 5 weeks, after which the PAI-1 and C677T information was discovered. The report from the maternal fetal medicine physician states that the remainder of the testing panel proved normal which included (at least) the anticardiolipin antibody testing and the lupus anticoagulant due to family autoimmune history.

    I have been advised to take 4 mg folic acid and 81 mg baby aspirin daily, which I had been doing for a number of years. After reviewing the C677T protocol on this website recently, I am in the process of transitioning to methylfolate (currently Solgar) and methylcobalamin (currently Jarrow Formulas 1 mg and Optimal Multivitamin with Iron) but am planning to switch to Optimal B vitamin products once I have worked my way up in dosage. Prior to this I had also been supplementing with and plan to continue supplementing with the following: baby aspirin, daily probiotic, D3, fish oil, calcium, magnesium and P5P. I have ordered the Seeking Health Probiota 12 and CoQ10 and should receive them this week.

    Additionally, I have been gluten free since November and on a low oxalate diet for several years due to the kidney stone/candida issues. I practice yoga 4 or more times a week and have found that to be beneficial in the healing process. With these changes, I am feeling better than I have ever felt and believe that the changes in B vitamin administration will only enhance the healing process. Even with the P.C.O.S. diagnosis, I have started ovulating on my own since beginning the magnesium supplement and now appear to have a normal cycle as long as I am on the magnesium.

    Are there any supplements that you would recommend in addition to those listed above that would aid in establishing a healthy environment in which to try to conceive? Are any of the supplements above (or any additional recommendations) unsafe for pregnancy? I am wondering if you would recommend that I obtain a heparin or lovenox prescription as well in light of the PAI-1 polymorphism?

    I find your comments regarding establishing a healthy balanced environment for conception and pregnancy maintenance to be very encouraging and any guidance you can provide will be much appreciated. To date, my infertility diagnosis as been “unexplained”, but as I learn more and have begun making changes many of which are advocated on your website, I become healthier and healthier. This seems like a much better position for trying to conceive, and I would welcome any additional insight you can provide.

    Polly

  25. keith August 7, 2013 at 5:55 am # Reply

    I have crohns disease for 28 yrs.I have high blood pressure and cholesterol.Now suffering with insomnia anxiety for a while as well.
    Could this all be about mthfr 677 @1298

  26. ashe June 9, 2014 at 6:48 pm # Reply

    Hello,

    I was recently diagnosed as double heterozygote. I have started supplementing and seen some drastic improvements in my health. I have two small children, ages 2 and 5 who are healthy and happy. If there is no obvious or immediate concern for their health, mental or physical, should they be tested and given treatments as well if they are found to carry MTHFR mutations?

  27. Hemant June 16, 2014 at 2:27 pm # Reply

    HASHIMOTOS AND MTHFR DEFECT –

    I have hashimotos and I have elevated homocysteine its 19.9μmol/L , lower folic acid – 5.1ng /ml, lower 25-OH Vitamin D, higher LDL , lower HDL higher alkaline phosphate, Higher triglycerides …….. My doc told to do MTHFR test and told to do 23andme test….. but 23andme is unwilling to ship it in India….. In MTHFR support group some one said to do Methylation profile from Doctors Data …..

    My APO-A1 is 98 mg/dl, APO-B is 84 mg/dl and APO B/A1 is 0.9, so this level also looks disturbed … I dont know if I should do Apolipoprotein E Genotyping from Spectra cell also or what ?

    I AM CONFUSED WHICH TEST SHOULD I DO MTHFR OR METHYLATION PROFILE OR GENOTYPING FROM SPECTRA CELL….

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