Folic Acid, Folate, MTHFR Genetic Mutations and YOUR HEALTH!

I have been finding some fascinating information after doing hours of research trying to find an answer as to why I had a baby with the fatal neural tube birth defect called Anencephaly. Everyone who knows me, knows that I have been an athlete for years. I live for fitness, I eat for results, I eat for health, I've been studying nutrition and sports medicine since 2007 and I can't just accept that it is "God's plan" or that "Everything happens for some unknown reason."
I have recently been educated by some of the people in the anencephaly support groups about a genetic mutation of the MTHFR that can cause your body not to properly metabolize Folic Acid so I started to research that specifically and did a saliva test for MTHFR through 23andme



So what is MTHFR? MTHFR is needed for DNA reproduction and is essential for folate metabolism, where the substrate 5, 10 methylenetetrahydrofolate is converted into 5 methylenetetrahydrofolate. If an MTHFR mutation is present, and the mutation is being expressed, a person may become deficient in 5 methylenetetrahydrofolate (5-MTHF). 5-MTHF is a key nutrient substrate. A deficiency in 5-MTHF is significant.
One of the essential roles of MTHFR and 5-MTHF is to aid in the re-conversion of homocysteine into L-methionine. Homocysteine is an oxidized amino acid, one that is derived from L-methionine. In the methylation cycle, homocysteine must convert back into L-methionine. If it does not re-convert effectively, homocysteine levels may remain elevated, predisposing one towards developing cardiovascular disease and cancer.
Mutations in MTHFR, and deficiencies in 5-MTHF may predispose a fetus towards developing neural tube birth defects in utero, such as spina bifida and anencephaly. MTHFR mutations may also be a significant factor in dementia, autism, schizophrenia, colon, breast and rectal cancers. It is believed that as much as 50% of the population has some type of MTHFR mutation.
The type of MTHFR variation you have may lead to a greater susceptibility to certain diseases. For example, the C677T mutations may predispose one towards cardiovascular disease, peripheral neuropathy, and birth defects. Whereas variations of the A1298T may lead more towards the development of fibromyalgia, schizophrenia, migraines, nerve pain, parkinson’s chronic fatigue and dementia.

So pretty much what this means for me is that my body doesn't process Folic Acid (the fake, synthetic, processed version of Folate). When I take folic acid, it just simply builds up in my blood stream and doesn't metabolize. Yes Folic Acid is the synthetic version of Folate, and they are putting it in everything from Bread to Cereals and encouraging women and pregnant women to take it even though studies are finding that it might not be good for you... Take this article for instance called: Folic acid supplementation is dangerous – especially for pregnant women


It brings me to another point. Depression has long run in my family. It is something I have personally battled all of my life which is why I am such a fitness junkie because that is my personal medicine... My Mother and sister both have bi polar disorder, manic depression, schizophrenia, and even dementia. Studies are finding that the inability to process B Vitamins properly can cause mental deterioration. So another question that arises to my mind is regarding Gluten problems... Is it really gluten or is it the synthetic folic acid they are putting in all of the products that are giving some people problems? I personally seem to have an allergy to it, I believed for years that I was gluten intolerant because I too had to cut out most breads, cereals, and all foods containing folic acid due to suffering allergy like symptoms and when I was taking folic acid while I was pregnant I was ALWAYS feeling sick shortly after taking my vitamins.
Or maybe it is just the fact that most grains and corn products are now genetically modified? If a product has folic acid which is a synthetic chemical of the nutrient folate, then how can it say organic?? I surely never heard of gluten intolerance a few years ago. Everything is chemically processed these days and maybe i'm just ignorant but I would love some solid answers so if YOU can educate me, please do.

Effective January 1, 1998, the Food and Drug Administration (FDA) ordered that all enriched cereal or grain products be fortified at a level of 140 micrograms (0.14 milligrams) of folic acid per 100 grams of grain product.
People have been trying to blame autism on vaccines for years, but if you look at the rates of autism since 1998 what if it is Folic Acid to blame? Check out this next link for some interesting data.

Folic Acid Fortification, Increase in MTHFR and Rise in Autism?

Here is also a possible link between B12 and Folate relating to autism and declining cognitive abilities..



This statistic graph brought to you by this website

And this one is by far one of my favorite websites so far in all of my research. Folic Acid Awareness Week 2014: Want Awareness? Here You Go

So instead of Folic Acid, I will be taking L-Methylfolate (folate to bypass the MTHFR) and methylcobalamin (True B12 Vitamin).

Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in folate metabolism and is involved in DNA methylation, DNA synthesis, and DNA repair. In addition, it is a possible risk factor in neural tube defects if a woman with the genetic defect gets pregnant as her body is unable to properly metabolize folic acid even if it is present within her body. It will simply build up in the blood stream and go unused... Which is very bad as your body needs folate and other essential B vitamins for various bodily functions. Anemia can be a sign of advanced folate deficiency.
Folate as well as B12 deficiency are the top nutrient deficiencies in the world. Besides its potentially crippling effects on the brain and on cell and tissue growth regulation, folate deficiency is linked to anemias, intestinal dysfunction, male fertility problems, pollen hypersensitivities, and bone thinning. Folate deficiency is also linked to blood buildup of homocysteine, which itself is linked to a plethora of other health problems. New findings are again showing how important folate is for the brain, from its formation during pregnancy throughout our entire life. Folate is a key nutrient that determines how our genes express themselves, operating like a toggle switch to tell genes to turn off and on. Clearly folate is a nutrient renowned for many health benefits and since we cannot make it within the body, it is beneficial and necessary for everyone.
Also known as Vitamin B9, in supplements, it is commonly in the form of synthetic folic acid. Synthetic folic acid is poorly absorbed and utilized by the body, and many people have a deficiency in the enzyme that converts folic acid into natural folate (MTHF). As many as one third of older Americans have unconverted folic acid in their blood, and this can pose several health problems. We need a better form of this critical nutrient! Studies suggest that folate and vitamin B12 status may play a role in depression and mental health.
Folate in and of itself does not alleviate depression. Our brain must convert folic acid into L-methylfolate before it can manufacture enough serotonin, norepinephrine, and dopamine to alleviate depression. However, certain individuals lack the ability to convert folic acid to L-methylfolate, rendering folic acid supplements ineffective for this group of patients.
This processing deficiency is caused by the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, which is quite common among patients with depression. Up to 70% of patients with depression test positive for the polymorphism and therefore cannot convert folic acid into L-methylfolate. (9)

Check out this article for some more information of different types of MTHFR mutations: Stop the Thyroid Madness

Since Folic Acid cannot be used by people with this condition, (confirm with your Dr for a blood test to check your homocystine levels) your body would have to use L-5-MTHF as Metafolin (L-Methylfolate) instead of folic acid as it is more effective, and bypasses MTHFR mutations and is safer.

Risks associated with excessive folic acid intake


Here is a multivitamin that contains L-Methylfolate instead of just simple folic acid

Here is a prenatal with the Biological Pure Nutrients by Seeking Health

Also Vitamin Code Prenatal

The best thing you can do is talk to your Dr to find out is Methylfolate is right for you... If your body is not used to it then you may experience some side effects such as in the link here

Nutrition Tips: Folic Acid: Killer or Cure-All?

Folic Acid vs. Folate

Types of Folate? Which is Best?

Rest in Peace my Angel

Worst Nightmare

I wasn't sure whether to continue this blog after a series of unfortunate events. I feel kind of torn over the Circus Mom status as Roilan and I have lost our child which means my next few blogs might be a bit on the sad side... I was so excited about moving back home to Utah from Las Vegas so that I could finish my pregnancy comfortably. The same day that we moved into our new apartment was the day that we had our diagnostic ultrasound. I had just turned 5 months pregnant and we had friends come over and help us carry everything up into our place and then off to the appointment we went. The radiologist and Dr’s were very chipper and very kind. They greeted us and had me lay on the table and smeared the jelly on my belly. The baby was head down so they looked through the organs, pointed out the kidneys, heart, everything looked great... or so we thought. The radiologists mood changed when it came to trying to see the babies head... he asked me if he could try the vaginal ultrasound to get a closer look at the baby. I obliged.
While observing with the probe, the radiologist got very silent and serious... I could feel tension in the room and I began to worry. Him and the Dr told me to get dressed and meet them in the other room to talk. Roilan and I started to get really worried but I hurried.

In the other room the Dr and Radiologist wrote a word on a yellow piece of paper... “Anencephaly” followed by the word “Polyhydramnios” as well as “Perinatologist Consultation, Genetic Counseling, Induction of Labor.” I didn’t understand... The radiologist began to explain that the baby had a serious, fatal birth defect in which he developed without a brain as well as the top portion of his skull, called Anencephaly... He also explained that I had a severe excess of amniotic fluid and that he recommends that I induce as soon as I possibly can for my own medical safety and that the baby will die either in utero, at birth or shortly after birth. I felt like I had had the wind knocked out of me... My mind was reeling. Nothing made sense anymore. Something inside of me died in those moments.
I asked my Dr what caused this, she said it is unknown. It categorizes under neural tube defect which is usually a lack of Folic Acid but she said in my case it can’t be since my nutrition has been optimal since the beginning of my pregnancy (My blood tests showed I had high nutrition and I was the healthiest pregnant woman they had ever seen) she said it is theorized to be a genetic mutation or it could be an environmental cause.
I couldn’t hold back the tears... I had so many questions. I cried all night and didn’t sleep. In the morning I called Dr’s, and clinics, and my insurance, and church groups who support these types of cases, and internet sites such as Be Not Afraid... We met with lots of Dr’s over the next few days and all of them said the same thing. I had a huge amount of amniotic fluid indicating that the baby has a severe case of anencephaly since normal babies regulate the volume by practicing breathing, swallowing, etc, our baby is going to die and if I don’t want to die as well then I need to be induced as soon as possible. If the baby dies in utero, I have 12 hours to get him out because he toxifies my body similar to gangrene.
I talked this news over with some of the church groups and they got pissed off by the Dr’s recommending me to induce and that I should “Carry to term” meaning I should carry the baby as long as naturally possible and leave the outcome up to god. My head reeled... I had to get a second opinion. We talked with a midwife friend who gave us an appointment for another diagnostic ultrasound downtown for Friday, so we went... The diagnosis was the same and I just cried and cried. I had hoped it was a mistake and that my baby was really normal... That ultrasound showed I had even more amniotic fluid than I did 5 days ago and they told me to be in touch with a Dr asap to discuss inducing.

I was tormented the whole week and I thought I would never be able to stop crying. Every minute I would just cry and wish that things would be different. I wanted my son to live so bad, I had so many hopes and dreams for his future, our future. How could this have happened to me? I am very athletic, so is my husband... We are two of the healthiest people we know, we never eat processed foods, we don’t eat fast food. We were completely stumped.

I found a Dr willing to induce me on Wednesday March 12... I took the appointment. People called me and told me I was sinning if I went through with the inducing since it would surely kill my baby... Unfortunately with this diagnosis there would be no hope regardless. It was honestly the most difficult decision I had to make in my life and my husband and I talked it over in serious depth over and over. It was the only decision that was right for us and wouldn’t bankrupt us since my insurance plan wasn’t willing to cover much of the costs..

I also didn’t want my son to suffer, even though they claim these babies don’t feel pain, from all the stories I had read of other babies with anencephaly being carried to term... some people put their babies on machines to keep the body alive as long as possible. I couldn’t imagine keeping my suffering baby on a machine... that wasn’t life. At the same time it was hard because I would feel him kick in my belly and it made me wish everything was fine. He felt so strong and I just wanted more time... I wanted him to know how much I loved him, how much I wished for him and didn’t want to let him go... I stopped crying and just spent as much of those last days touching my belly and trying to talk to him, and praying for my family in heaven to please watch over him when it was his time to join them. I was a wreck and I felt like I was going crazy with the grief.

This was my first pregnancy and I was so afraid of being a mother, I was afraid of my child hating me, or being a bad mother, or having twins, or no longer having time to be a performer... Never did i imagine that I would have to be afraid of losing my son before he was even born, this never happened to anyone in my family... I kept asking, Why Me? Wednesday came fast... Inducing was the most horrible pain I had ever felt... Everyone told me that having a baby was hell but you get heaven afterwards when you hold your baby... There was no heaven waiting for me. I was miserable and I suffered excruciatingly knowing he would leave me forever. While I was pushing I regretted it, I screamed and I cried... My mind constantly returns to that moment and all of the broken dreams and fantasies that helped me get through.. At one point I swear I must have passed out because I saw myself reaching for my baby but he was falling away from me, out of my reach... in the end my baby was gone and I was nearly rushed to the ER due to too much blood loss. I still thought he was so beautiful... He was my son... He will always be my son and I will never forget him. I asked the nurse if she could please stamp his hands or feet or anything for me to keep... I felt so broken... I sat in recovery and wished for death and thought maybe it would have been better to wait, to carry to term and risk death.... To have just a little more time with him.


My precious Son, though your existence in this world was short, you will always be remembered. I am so grateful for everything that you gave me and all the strength that I found in you. These last two weeks knowing that your condition was fatal and asking so many doctors for other opinions, wishing and trying everything we could save you... has been the hardest and most painful weeks of my life. I will miss your little flutters and tiny kicks and please know that a piece of my heart stopped forever when I was told by doctors that yours had stopped on March 12, 2014 during your delivery. My little Elias De Paz has grown his angel wings. I love you forever sweetheart. We will always be your Mommy and Daddy and you will forever be our angel.