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

Please Help Spread the Word!

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9 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.

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