Baby Diagnosed with ‘Rare’ Genetic Disorder: MTHFR

This is exactly why I am asking for your help getting MTHFR.net on the radar.

Baby diagnosed with MTHFR mutation

Baby Born with MTHFR Mutation. CLICK TO WATCH VIDEO

This young child has a MTHFR mutation. I know how to help. It saddens me greatly to see this.

Men and Women:
Desiring to get pregnant? I urge you to test yourselves for MTHFR mutations.

Parents:
I urge you to test yourselves and your children for MTHFR mutations.

MTHFR mutations ARE NOT RARE.
From what I’ve seen in the literature (I need a solid reference still):
The C677T MTHFR Mutation affects over 5% to 10% of the population. That is not rare.
The A1298C MTHFR Mutation affects over 20% – 30% of the population. That is not rare.

An individual can also have both A1298C and C677T MTHFR mutations – and others.

Perhaps this baby has more than two of these common MTHFR mutations – as there are over 20 MTHFR polymorphisms (according to 2000 literature). I’m certain there are many more found by now.

Prevention is crucial. Test yourselves before getting pregnant and test yourself even if you are already pregnant. It is not too late to supplement with the proper nutrients.

If you, friend, colleague or loved one has a MTHFR mutation, and you are not receiving results, bookmark this website as the information provided is very beneficial.

Please post a comment below if you know someone or yourself has, or suspect has, a MTHFR mutation. Are you receiving the information you need? If not, what information do you need?

In health,
Dr Ben

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15 Responses to “Baby Diagnosed with ‘Rare’ Genetic Disorder: MTHFR”

  1. Elizabeth September 12, 2011 at 3:12 am # Reply

    Dr. Ben: I am interested in knowing: if I can order the lab-work to have my children tested myself and what that might ‘look’ like; how to safely detox if one is homozygous for A1298C but NOT the C677T, and how to know which supplements to take and how much… or if this can only be determined be someone with experience (such as yourself) in treating each person’s unique display of their MTHFR health issues. I realize that this last one is quite literally a loaded question, but I would sincerely appreciate information you might be able to offer.

  2. Katherine Erlich, M.D. September 12, 2011 at 3:50 am # Reply

    I test all my patients for the MTHFR mutation and have found rates much higher than what you list and what is commonly described in literature. In fact, the vast majority (75-80%) of my patients (all children) have at least a single MTHFR mutation and around 40% have a double mutation (either an AA, CC, or AC mutation). So this mutation is a real issue underlying much chronic illness. As it is relatively easy to support this mutation by nutritionally bypassing it, and thus minimizing inflammation and chronic illness associated with it, I believe it should be routinely tested on all infants – perhaps even on the newborn screens.

    • Dr Ben September 12, 2011 at 4:41 am # Reply

      Dr Erlich –

      Thank you for your comment. It is doctors like you who are truly changing the healthcare system landscape.

      It is easy to support MTHFR mutations for the most part – especially 677 C -> T. The 1298 A -> C is a bit more complex and more individualized treatments are required due to various toxic exposures and degrees of exposure.

      Do you also run a Methylation Profile by Doctor’s Data for those with 1298 A -> C mutations?

      Are you seeing ‘autistic’ children with MTHFR mutations becoming normalized using nutritional therapies?
      How many of your autistic children are you seeing with MTHFR mutations?

      I would like to schedule a recorded phone call with you so we can do a podcast for all those at MTHFR.net.

      I will email you this evening.

      Have you seen this?
      “Interestingly, polymorphisms for the aldolase B enzyme, which metabolizes fructose, have been discovered (1). The gene for this enzyme is highly polymorphic, but until recently, many of these polymorphisms were considered silent. Only when fructose was added in high quantities to the food supply as a sweetener did these polymorphisms present as disease alleles (42). This is an example where a change in environment has challenged a normally silent allele to the degree that it begins to present as a disease allele.” (source: http://www.ajcn.org/content/83/2/436S.full.pdf+html)

      To me, this is classic environmental impact and epigenetics. We all may be susceptible to genetic mutation and gene expression, but it is not happening until the environment causes it to happen.

      This begs the question – what is it in our environment that is triggering the sudden massive increase of MTHFR mutations? I do not think we’ve been missing MTHFR mutations for 100 years – but perhaps we have been.

      Respectfully,
      Dr Ben

  3. Jennifer King, MA, NCC September 19, 2011 at 2:54 pm # Reply

    Hi Ben,

    I have recently discovered I have high homocysteine levels – tested by an integrative nurse practitioner I see. She has put me on Designs for Health homocysteine supreme. I already know I have factor V leiden mutation and this NP told me in regards to the homocysteine levels – “you have a mutation that keeps you from using your b vitamins.” At the time I didn’t know anything about Mthfr. After doing some research, I surmise this mutation is what I have. I want to know more however. I think I will make an appt with a genetic dr. I need to know…as two of my three kids have aspergers and ADHD traits. One of them we’ve been giving huge doses of several vitamins as recommended after doing a genova nutreval that shows severe deficiencies. Knowing if the kids are able to use the vitamins is obviously something important to us. My father had schizophrenia and my mother also has high homocysteine and has had a DVT (probably FVL also). It seems me and my kids are at risk for many health problems.. I’m utterly shocked at the lack of attention to Mthfr. Our pediatrician and family doctors have been of no help in doing detective work when telling them about the neuro stuff presenting in my kids, nor the crushing fatigue I experience. I had HELLP syndrome with one of my kids and though was tested for FVL before my next pregnancy – my OB never said word one about homocysteine levels or mthfr. If I had been given folinic acid during my pregnancy, who knows if my sons would have the neurological issues they have. Very frustrating to say the least. Is there a non profit or something that can advocate for this issue in health care? Can we start one?!? I know mthfr gets some attention (recently) due to the impact on heart disease, but what about all the other devastation it causes (98% of ASD kids have this mutation!)? And it’s so easily treated.. Geesh. I’ve read some much misinformation though about just taking folic acid to treat – which clearly shows individuals simplify this disorder.

    On top of my personal experiences – I’m a mental health professional and after learning more and more about mthfr am finding it hard to work with clients towards behavior change knowing that some clients may be starting at a severe handicap in working towards recover if they have mthfr. I read somewhere recently that a person with mthfr (not sure about the mutation combinations, etc) have a 36% increased chance in having depression over others without the mutation. Ahhh…so frustrating! Not to mention the increase in risk of schizophrenia, bipolar d/o and anxiety d/o’s.

    I would love to join forces with anybody he wants to be an advocate for getting the word out through education and helping individuals identify the mutation and get the treatment they need.

    Jen

    • Dr Ben September 19, 2011 at 6:42 pm # Reply

      Hi Jen –

      Thank you for your thorough comment and story.

      Given your history, the comments from the RN and your children with Aspergers, I highly suspect you have MTHFR mutations and they do as well.

      The testing for MTHFR is typically covered by insurance if your doctor writes it up properly.

      If you don’t have insurance, or you just want to order the MTHFR genetic testing, you may do so from one of my websites:
      http://www.healthegoods.com/mthfr-test.html

      I also highly recommend you consider ordering the MTHFR testing for your children – and telling your clients about it.

      Methylation Testing is also really important to order for those with MTHFR mutations – especially for your children. The reasons are long and complex but the short story is that MTHFR mutations mess up the methylation in the body which prevents the body from detoxing properly therefore causing accumulation of toxins. Then add to that the fact that many cancers are caused by lack of methylation and you can immediately see the reason why finding out if methylation processes in the body are working or not.

      Methylation testing is available here:
      http://www.healthegoods.com/methylation-profile-doctors-data.html

      I include a free 15 minute consultation with it to go over the results. If you need more than that, you are always welcome to schedule a longer consult.

      I am impressed with your awareness of MTHFR and the connection between mental disorders. You are spot on that your treatments for your mental health clients may be totally ineffective unless you identify underlying nutritional and genetic issues. MTHFR is a huge one being that it is so prevalent in the population.

      I will email you directly and we can talk about collaborating. I need help! People need help!

      Best
      Dr Ben

  4. melissa September 22, 2011 at 3:22 am # Reply

    my daughter is 4 she had stroke last yr and then got diagnosied with mthfr in the hsoptiol after stroke what is it and what can we do about it

    • Dr Ben September 23, 2011 at 6:53 am # Reply

      Hi Melissa –

      I am sorry to hear about your daughter. I hope she is recovering well.

      I assume your daughter has homozygous C677T yes?

      It is critical that she be taking nutrients to bypass this genetic mutation – things like L-5-MTHF, methylcobalamin, pyridoxal-5-phosphate, Betaine (TMG), riboflavin, krill oil, nattokinase.

      I highly recommend you and your husband also get tested for MTHFR. If your daughter has it, you and your husband have some form of it as well. You need to be proactive and manage it.

      The good news is it is possible to manage MTHFR mutations – just need to do it properly.

      Find out which mutations she has, get her homocysteine levels and make sure her doctors are being proactive with her. You cannot do nothing because she can have another stroke if nothing is done.

      If you need help, you may schedule a consult with me.

      In health,
      Dr Ben

  5. Windy Pettiette January 29, 2012 at 12:16 pm # Reply

    Dear Dr. Ben,
    I am a 37 yr old mom of 3 children. I have been recently diagnosed with “MTHFR” this past December. I was in the Hospital for a Heartattack with 2 stint placements and a bloodclot removed from the front of my heart. A week later I was admitted for a bloodclot in the lung!That is when I was informed of this blood disorder. I first started having trouble with it in ’2002. Two weeks after my youngest daughter was born. My finger tips changed to a purplish color and hurt like crazy!! They finally did an arteriorgram and found a clot. When I came out of surgery I was told they removed 3 clots. Not even an hour later that arm felt like it was on fire! So they rushed me to surgery again and removed 2 more clots. Later that day they found another clot in my drainage tube. I was told that due to the damage from the clots to my artery that I might have to have my rt arm amputated. So far they have put a stint in to open the vein up. Since all that I have been poked and prodded as if I am a guinea pig! My son thinks that if I leave home with an overnight bag that I’m going to the hospital! Doctors and the government need to Learn more about this thing! I have been to alot of doctors that had no clue where to even start with me! Since This first started I have had a total of 10 clots,Alot of strokes, a heart attack, bloodclot in my lung, and high Bloodpressure. I am on so much blood thinner it is unreal. This has not been a fun time at all for me!! My doctor has told me that I can no longer work. And there is no kind of disability help for me because due to this “MTHFR” I stayed in the hospital more than I could work! Now I I am told that my kids could possibly have it too!! As you have probably already guessed I am very Angry that very few people know about this and about all the misdiagnoses that I have been through! And now there’s a chance that my kids may have to go through all that too?? I TOTALLY AGREE with you!! The’s doctors and the government need to learn more about this and get us some kind of financial assistance with this! Otherwise, I hate to say this, but It’s cheaper and ALOT less stressful to just give up and die!

  6. Shelley April 27, 2012 at 3:45 am # Reply

    I have a MTHFR gene mutation (also Lupus, Sjogrens’, and had ITP in my 20′s). I was put on additional folic acid by my RE and had a successful pregnancy after fertility issues. I *finally* was able to get my 17month old son tested and he also has a mutation in the C677T gene. I am awaiting the results on paper so I can see if it’s the double mutation (results were read to me over the phone by a nurse who had zero idea what she was relaying so they were difficult to understand).
    Since my pediatrician seems to think this is no big deal (he has verbalized such and took 10 months to order the test), what should I be looking at for treatment for my son? Is there a specific pediatric regimen? Where can I refer my pediatrician to find this information? Would we benefit from meeting with a genetic counselor? Should we stop or delay immunizations due to the metals in them?
    As you can tell, I have many questions. I am setting up an informational consult with my pediatrician, after which I may or may not be looking for a new practice. I would just like to know where to start. Any guidance or information would be greatly appreciated.

    • carolyn z October 25, 2012 at 1:34 am # Reply

      Hi shelley were you ever able to find help for your son?

  7. Jackie July 22, 2013 at 5:13 am # Reply

    Dr. Ben,
    I am asking you kind of out of desperation in search of what is going on with my daughter. She has a handful of specialist at the children’s hospital baffled along with myself. We are currently waiting for genetics tests to come back but since finding out this past weekend of an MTHFR clotting disorder that I guess my husbands first cousin both have, that possibly runs in the females in the family,I am beginning to wonder if that’s what we’re dealing with and I am just curious if it sounds possible to you. To start, despite good prenatal care my daughter was born with a cleft lip and palate. When she was 3 weeks old she had RSV. She was life flighted to the children’s hospital due to increased difficulty breathing. About a week after coming home she started projectile vomiting after only spitting up once her 5 weeks of life. this lead to upper gi and small bowel. she was misdiagnosed with pyloric stenosis at this time. we tried zantac and formula change to nutramigen, no luck. A few days after starting prevacid for a few minutes her right arm was limp, with no resistance. The next day we had noticed she started this scary jumping thing, almost seizure like but she was alert. her whole body would jerk up. it was obvious she couldn’t control it. there was another instance where without light change or movement she was fussing, stopped, stared and her pupils got real big, then small, real big then small, then she vomited and seemed to snap out of it. she’s had spastic movements and spurts of being floppy like, all the while with a smile on her face for the most part. A some point she started vomiting up specks of blood. which luckily she was scheduled for surgery two weeks after so despite local drs not being concerned she had lab work drawn from specialist and it was found that she had elevated pt. she was then started on daily vit k supplement with one time shot. organic acids in her urine have come up a few times but carnitine levels are fine. since then she’s had a repeat ugi and u/s of abdomen,[all came up normal] and cranial us (which found extra axial fluid) which lead to mri that found benign extra axial fluid and subdural hematoma. she has a bit higher heart rate but I do to. more recently her extremities now turn purple upon being cold. my cousin has a cold allergy so I thought maybe? She is currently on Neocate. Not sure if its coincidence or not shortly after starting Neocate she completely turned around and is exactly where she should be developmentally and strength wise. A little history I’ve had seizures in the past easy bruising, migraines, anxiety, chronic fatigue. My mother had pre-e with all three pregnancies, placenta previa with me, and 1 miscarriage. she had both ovaries removed at separate times due to cysts and also had her gall bladder removed. She died when she was 41 due to brain aneurysm. Like I stated mthfr runs in my husbands family. his sisters both have clotting issues. everyone a miscarriage a piece, migraines, ibs, depression, undiagnosed or misdiagnosed chronic pain and fatigue, adhd, cancer, heart issues. His immediate family has never been tested but since it runs in the family with their history it wouldn’t surprise me. She has been rescheduled 3 times for her first lip/nose repair but it is coming up here in less than two weeks and I concerned with whether or not if indeed she would have mthfr clotting issue, how safe it would be or what precautions…Sorry this is so long, for only 6 months old she has quite the medical history. Was just wondering if it sounds like it might possibly be mthfr mutation for her and if, so any advice about surgery?

    • Michelle Slater August 7, 2013 at 4:52 am # Reply

      Jackie,
      I was looking up this site to see if Prevacid could be the cause of my son’s seizures. When he was 8 mos old, he started to “jerk” his body up like you described for your daughter. Both arms and legs would move up and his head would jerk down. This was after starting Prevacid. He was DX with infantile spasms and treated nutritionally to control them. Even though his neurologist feels he doesn’t need Pyridoxine (B6) to control his seizures anymore, I have not been able to reduce his dose. He is now 6 years old and every time I try to put him back on Prevacid for GERD, he looks as if he is having a neurologic episode where he is out of control of the movement of his arms and legs in an upwards movement. All the doctors I have consulted with continue to tell me Prevacid is not the cause and has no neurologic side effects. I have tried to have his doctor test him for MTHFR with no luck. I am looking for a new doctor again. Good luck with your daughter. I hope you find answers for her.

  8. Heather August 7, 2013 at 2:35 pm # Reply

    I was diagnosed with the MTHFR mutation while pregnant with my second son. I was only put on baby aspirin and Metanx and carried him full term. Now I am concerned about giving my infant formula that contains folic acid. He has a milk protein allergy and milk based formulas make him break out. All formula contains folic acid it seems but the one we want to try him on contains more than most, 15 mcg vs 7.5 in other formulas. My problem is, my pediatrician does not want to test him for MTHFR. He thinks that it would be pointless and the only treatment if he does have it is blood thinners but he doesn’t think there is any concern about folic acid in his formula. I’ve read your articles and watched the videos and know that supplemental folic acid is the problem. Will having more folic acid in his formula cause future problems for him? Or should I try to find a way to limit the folic acid and get him on a methylfolate supplement in some form? I’m terrified of what may happen if he DOES have MTHFR but my doctor doesn’t want to help. What do I do? Find another doctor??

  9. Marie September 22, 2013 at 12:18 pm # Reply

    Hi Dr Ben,

    I would love to have another child but i’m apprehensive as my son has autism and i’m worried about bringing another child into this world with similar issues and the potential stress that could put on my already strained family.
    I’ve listed below my son’s 23andme results. I feel the mutations have come mainly from my side as I suffer with lots of autoimmune issues and have had bouts of bad anxiety. Is there anyway I could supplement to try and prevent autism going on the results below?

    VDR Bsm +/-
    VDR Taq +/-
    ACAT1-02 +/+
    MTHFR C677T +/-
    MTHFR A1298C +/-
    MTRR A66G +/-
    MTRR A664A +/-
    CBS C699T +/-
    CBS A360 +/-

    I would greatly appreciate your comments. TIA

  10. Ian February 8, 2014 at 8:31 pm # Reply

    Dr. Ben,

    I am homozygous:
    MAO-A R297R

    and

    Heterozygous:
    MTHFR C677T, COMT V158M, COMT H62H, VDR Bsm, VDR Taq, MTRR A66G, MTRR A664A, BHMT-02, BHMT-08, CBS C699T, CBS A360A

    I am a father to a 20-month old daughter and I suspect that she has my MTHFR mutation (am waiting on the testing) because she has the same physical symptoms. If I am thinking of reproducing again, will supplementation in advance of reproduction assist with minimizing the risk of my future child having the mutation? Or once it is there is it there forever?

    Thanks!

    Ian

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