Using Personal Experiences as Part of Research.

I want to preface this post by explaining my stance on medicine and research. I have several friends that are medical doctors and have seen them go through years and years of schooling. I have high regards for someone with that much knowledge. Along with the knowledge and experience they obtain through medical school, they continue their education into their profession. Many medical professionals will only use protocols that follow research that has been tested over large populations and has been retested with similar results. Most Doctors follow what their associations have published because of time they don’t normally have to research on their own. I’m a teacher, I do not fault them on that what-so-ever.

Beyond all of this though I believe our bodies can do amazing things on their own if they are exposed to the correct environment. I would much rather change my way of living including diet, bad habits and exercise and adjust supplements than take prescription drugs.

The other huge part of the research I’ve been doing over the last week is reading about women’s personal experiences with MTHFR. Nearly every response I read in blog posts, forums, and comments had one very similar thing. They all had at least one healthy pregnancy and have had several miscarriages early on. Obviously I relate to this and it definitely makes me think there is some connection to my miscarriages and MTHFR. To me, this also supports that  depending on the mutation, depends on how much of the methylation cycle is affected. Why at sometimes we have a normal pregnancy and sometimes we do not. There may be two other things that could be happening as well. One, our environment is affecting the methylation cycle, thus sometimes we miscarry and sometimes we don’t. Two, this genetic mutation may actually be causing problems with the growth of the embryo. What I mean by this is that mutation is passed on to the egg, and the egg is not able to grow because it may have the correct nutrients to grow.

Many of these posts have been on Dr. Lynch’s website and many others were on other websites in forums for MTHFR and in forums for multiple miscarriages. Many of these women have another thing in common. They are trying to follow the protocol Dr. Lynch lays out on MTHFR.net. The link will take you to his podcast where he discusses the protocol in further detail, the link also shows the following:

Side note about Dr. Ben Lynch, he is not a medical doctor (MD) he has his PhD in Naturopathic Medicine (ND). Still, he had to go to a 4 year medical school. Which is more school than I have gone to. :) Their philosophy is this: “Naturopathic medicine combines evidenced based natural treatments that recognize each person’s unique presentation, works to find the root cause of disease, and treats the person as a whole.”

Supplements mentioned in podcast:

  1. Active CoQH: provides 50 mg of pure ubiquinol in small easy-to-swallow gelatin capsules. Soy free. Best to take with food anytime of day. Consider 1 daily.
  2. Sublingual Active B12 with Methylfolate: provides 1 mg of methylfolate and 800 mcg of methylfolate in a small sublingual tablet. Consider placing 1 tablet under the tongue in the morning upon rising and another 30 minutes before lunch. Your physician may desire you to take 2 tablets under the tongue twice a day. Vegetarian.
  3. L-5-MTHF: provides 1 mg of methylfolate as Metafolin. Take as directed by your healthcare professional. Useful to increase your methylfolate levels incrementally if higher amounts are needed or recommended by your physician.
  4. Vitamin D360: provides 2,000 IU of vitamin D3 in a pure base of extra virgin olive oil. Kosher ingredients. Vegetarian. Consider taking 3 drops daily or 21 drops once a week. Recommended to take 6,000 IU of vitamin D3 daily while pregnant and breastfeeding. Have your physician monitor your vitamin D blood levels.
  5. ProBiota 12 Powder: provides 50 billion beneficial bacteria in 12 strains in a great tasting powder that is easy to tolerate. Simply take 1/8th teaspoon and place directly into your mouth after dinner nightly.
  6. Chewable Cal/Mag Plus D: provides 25% of daily calcium and 25% of daily magnesium per chewable tablet. Consider chewing one with lunch and dinner.
  7. Optimal Chia Seeds: provides additional food-based calcium, magnesium and trace minerals – and protein – in a very healthy form. Consider making Chia Seed Gel in the evening and taking 1 tablespoon between meals to help absorb toxins and encourage healthy bowel movements.
  8. Optimal Vitamin E: provides 400 IU of mixed tocopherals in an easy-to-swallow gelatin capsule. Vitamin E is an excellent antioxidant and also supports healthy blood flow.
  9. Optimal Krill Oil: provides 12 mg of astaxanthin along with EPA/DHA that crosses the blood-brain-barrier as it is in a base of phosphatidylcholine. Consider taking 1 gelatin capsule daily anytime of day with some food.
  10. Optimal Fish Oil: provides potent amounts of EPA/DHA in the triglyceride form which is better absorbed than the ethyl ester forms. Consider taking 2 capsules daily with a meal anytime of day.
    • OROptimal Fish Oil Liquid: provides EPA/DHA in an excellent tasting liquid that may be added to smoothies or taken straight with some food. Consider taking 1 tablespoon daily.

Prenatal Multivitamin:
There are very few prenatals that meet a high enough standard for me to recommend. The following are the multivitamins I do recommend for now:

  • Thorne Basic Prenatal: for those with constipation due to iron, this may not be a good fit.
  • Xymogen Prenatal Essentials: pretty good overall but also has a fair amount of iron.
  • Kid’s Optimal Multivitamin: this has very little iron in it and also requires a woman to take more methylfolate as it only has 400 mcg of methylfolate per 6 capsules; however, if one is taking the Sublingual Active B12 with Metafolin, the additional methylfolate requirement is met.
  • Chewable Optimal Multivitamin: this has no iron, has a nice taste and requires a woman to take additional methylfolate during pregnancy and breastfeeding.

I do want to point out that many of the recommended supplements were actually created by his company SeekingHealth, But they are just natural supplements and there are several other places where you can get similar supplements. It is important to find naturally occurring supplements with no fillers for your body to easily digest, this really goes for anybody.

A couple of things I want to point out.

1. CoQH is an activated form of CoQ10 – This is a supplement I have heard of because my mother has been taking it for quite some time. It has helped her greatly with some issues she has been having. I’ll talk more about that some other time. Also, it is all over multiple miscarriage boards. Its one of those things, that they all take, not even being connected with MTHFR. It is actually important in the ATP cycle, it’s a form of energy for our cells. Research in Canada is suggesting that well help older women in that will give mitochondria the energy they need to split chromosomes properly.

2. All of the supplements, except for two of the prenatals, he lists are created by his company SeekingHealth. Learning this information made me quite leery about the whole site in of itself. Yet the large amount of posts I’ve found from other women that are in the similar situation as me, makes me wonder that there may be something to what he is saying.

3. An overabundance of research is telling us the importance of B6, B12 and folic acid. The Active B-12 with Methylfolate is B12 and a broken down form of folic acid.

Continued from that, my medical doctor has no concern into me being heterozygous C677T. In the medical community, mainly the concern is if you are homozygous C677T and that your homocysteine levels are high. My homocysteine levels have not been checked yet. The research basically shows that taking B6, Folic Acid and B12 will help reduce homocysteine levels. Not much research connects the A1298C mutation to anything either. At least that I have been able to find, yet.

This all leads me to what to do next. I plan on speaking to my doctor next week and see what she says. I talked to her a little bit about the MTHFR.net website I had found, and expressed concern that I was also heterozygous for the A1298 mutation as well. She is going to talk to a Reproductive Endocrinologist and we are to talk again in the middle of the week to discuss.

Basically with all of the research my plan is to do the following:

  1. Stop smoking CHECK!
  2. Limit processed food, as much as I can. That means no more boxed food, making as much as I can from scratch. Including cereal, which I love and I’m not quite sure how I’m going to do, especially at the start of the school year. If I am going to do processed food, like cereal I plan to only eat organic and/or gluten-free.
  3. I plan on taking a new prenatal vitamin. I’m currently taking Target Prenatal. I’m planning on taking either New Chapter Perfect Prenatal or Thorne Research Basic Prenatal or NeevoDHA prescription prenatals, I’ve heard they are more than $50 and may not be covered by insurance.
  4. I am currently taking Pregnitude. (I’ll be posting on this very soon) I am going to talk to my doctor about just taking a myo-inositol supplement instead and take the Methylfolate supplement in #5.
  5. Take a sublingual B-12 Methylcobalamin supplement. I just found out my husband has been taking this for a while. Or I’ll take 1000 mcg Methylcobalamin with 800 mcg Methylfolate as L-5-MTHF.
  6. Possibly take Co-q10. I’m going to talk to my doctor about this to see what she knows about it, or see if she can point me in some direction.
  7. Either cutback even more on coffee or start drinking tea. I love coffee. Its one of the greatest parts of my morning. If anybody has some amazing tea that they can recommend that has a nice full flavor like coffee please do recommend.

MTHFR – What is it?

Today’s post is basically a summary of a bunch of the information that I have found so far concerning the mutation. Over the next week I’ll post how this is related to me and what actions I plan to take. Because of all of this new information I have found in the last week we plan to wait to start trying again for baby number 2 until I’ve discussed with my Doctor, and potentially other doctors to get me to where I need to be. I’ll be posting in the next few weeks/months my journey to get pregnant and better my health concerning this mutation.

MTHFR stands for: methylenetetrahydrofolate reductase (methyl-ene-tetra-hydro-folate-reductase)

It is two things, a gene and an enzyme. Lets take a quick look back into biology to really see what these two things are. Remember I’m a Physics teacher, not a Biology teacher, and definitely no Doctor. I’m going to try and explain this correctly. :)

Science Review: Genes – easy enough, its those things that we get from our parents. We remember this from when we learned about reproduction we get one gene from our mother and one from our father, each gene has 2 options. We call these options alleles, we get one allele from our mother and one allele from our father. Remember making those fun punnett squares? When we have one allele of something we call it heterozygous, when we have both alleles of something we call it homozygous.

Quick side note. The chromosomes are the things we have 23 of….we find the genes and DNA on the chromosomes.

Now how are DNA and genes related? Genes are basically specific sections of DNA. Each section/gene has a specific role in our body. Now lets remember what DNA actually does, its basically like a key, hmm, like an answer key. Our answer key tells us our multiple choice options, with DNA our options are A, T, C, and G. What is DNA used for then? Each section is used to make proteins and these proteins and/or amino acids go all over to do all sorts of things. When we have a genetic mutation one of these options isn’t correct. For example, we should have a C at specific position and we have a T, this basically makes one mistake, which causes a slightly off protein, some of the time. Another way to think of it is you have a key that will fit into the lock but won’t turn. Thats what a mutation will do, some of the time, more about that below.

About MTHFR gene mutation: The MTHFR gene is approximately 20,000 base pairs, each base pair has a specific A, T, C, or G to create the specific key. Well two specific locations in the gene have been under great research over the last 20 or so years. The location at 677 and the location at 1298. At the 677 position we are supposed to have a C and at the 1298 position we are supposed to have an A. With the 677 location the C is sometimes replaced with a T and at the 1298 location the A is replaced with a C.

Researchers present MTHFR mutations most commonly like this:

  • MTHFR 677CC = a normal MTHFR gene
  • MTHFR 677CT = a heterozygous mutation which is one mutation
  • MTHFR 677TT = a homozygous mutation which is two mutations
  • MTHFR 1298AA = a normal MTHFR gene
  • MTHFR 1298AC = a heterozygous mutation which is one mutation
  • MTHFR 1298CC = a homozgyous mutation which is two mutations
  • MTHFR 677CT + MTHFR 1298AC = a compound heterozygous mutation which is one mutation from two different parts of the gene – THIS IS ME!

So back to our key example. Our mutation is effecting the production of an important enzyme. But I said it happens only some of the time, well how often? It depends on which mutation we have. If we are homozygous 677TT, we still have about 30% functionality of the enzyme reaction. We have about 60% functionality if heterozygous 677CT. Homozygous 1298CC has about 40% functionality and heterozygous 1298AC has about 70% functionality. Functionality of compound 677CT/1298AC is between.

So what does this mean? First it means that my mom or dad had one of these mutations. I’ll talk more about that some other time. Unless of course, your body is just mutating your genes, which is very well possible.

What the MTHFR gene does:This brings us to the MTHFR gene, the main purpose of this gene is to produce an enzyme called MTHFR. Makes sense. It makes methylenetetrahydrofolate reductase.

Basically this process takes folate or folic acid, we all know how important folic acid is, to produce MTHF, AKA 5-MTHF, AKA l-methylfolate AKA 5-methyltetrahydrofolate AKA Levomefolic acid. To make things a little easier to distinguish I’ll be calling it l-methylfolate. l-methylfolate is very important in the reproduction of DNA, the cysteine cycle (that C that is in the DNA is cysteine) and in the regulation of homocysteine. We’ll talk more about homocysteine in a minute.

What are the problems with having an MTHFR mutation?

1. Your body has a hard time using synthetic folic acid and converting it into l-methylfolate. Wait? Your body can’t process synthetic folic acid? The thing that is incredibly important in brain development? That sounds like a problem.

2. Your body has a hard time converting vitamin B-12 (cobalamin) into methylcobalamin. Another problem. B-12′s main job is convert homocysteine. If our body can’t use it, then we are left with extra homocysteine.

3. Because of these two things, your body has a rise in homocysteine.

4. With a rise in homocysteine you have a risk of blood clots. Most current and followed research concerns this. This is mainly caused when you are homozygous C677T. This can lead to miscarriage, blood clots, heart attacks, stroke, pre-eclampsia and birth defects.

The process that the MTHFR is used in is called the methylation cycle. There are several genes that are important in this cycle, but the current most researched is the MTHFR gene. Dr. Lynch writes the website MTHFR.net he also associates the methylation cycle to the following:

  • Turn on and off genes (gene regulation)
  • Process chemical and toxins (biotransformation)
  • Build neurotransmitters (dopamine, serotonin, epinephrine)
  • Process hormones (estrogen)
  • Build immune cells (T cells, NK cells)
  • DNA and RNA synthese (Thymine aka 5-methyluracil)
  • Produce energy (CoQ10, carnitine, ATP)
  • Produce protective coating on nerves (myelination)

My Engineering Minded Opinion: Yes thats a list of pretty important stuff, and over time it appears it could have pretty significant effects. The one thing we actually have control over is “Process chemical and toxins.” This can mean two things. 1. Chemicals and toxins can affect the gene, could even cause the gene to mutate and 2. The mutation doesn’t allow your body to properly dispose of toxins that you consume.

Something my doctor said to me at one of my last visits the research is showing the astounding problems women are having with infertility. Hmm. What has changed drastically in the last 30 years, that may have caused this? I believe two things 1. The increase use of plastics and 2. The increase in processed food. This is totally just my opinion, not researched or tested. It just makes sense.

The interesting thing is I believe medicine will get to a point where a couple things will happen. One, genetic testing will become more popular and it will possibly become much easier to treat people because many of our problems are linked to these genes. Two, associating illnesses with genetics will be incredibly easy. During my search this past week I found a website http://www.23andme.com where you are able to send in a saliva swab and they will map your DNA. You can use this for ancestory reasons and for health reasons. Those that are not so aware but Celiac Disease, the reason why we have gluten free food everywhere, is from a genetic mutation as well.

MTHFR Symptoms and Problems: Next the list of symptoms and problems research has found to be associated with the MTHFR mutation Dr. Lynch shares on his site. Notice #4, yup miscarriages.

Updated: December 6, 2012

  1. Autism
  2. Addictions: smoking, drugs, alcohol
  3. Down’s syndrome
  4. Miscarriages
  5. Pulmonary embolisms
  6. Depression in Post-Menopausal Women
  7. Schizophrenia
  8. Fibromyalgia
  9. Chronic Fatigue Syndrome
  10. Chemical Sensitivity
  11. Parkinson’s
  12. Irritable Bowel Syndrome
  13. Pre-eclampsia
  14. Stroke
  15. Spina bifida
  16. Esophageal Squamous cell carcinoma
  17. Acute Lymphoblastic Leukemia
  18. Vascular Dementia
  19. Bipolar disorder
  20. Colorectal Adenoma
  21. Idiopathic male infertility
  22. Blood clots
  23. Rectal cancer
  24. Meningioma
  25. Glioma
  26. Congenital Heart Defects
  27. Infant depression via epigenetic processes caused by maternal depression
  28. Deficits in childhood cognitive development
  29. Gastric Cancer
  30. Migraines with aura
  31. Low HDL
  32. High homocysteine
  33. Post-menopausal breast cancer
  34. Atherosclerosis
  35. Oral Clefts
  36. Type 1 Diabetes
  37. Epilepsy
  38. Primary Closed Angle Glaucoma
  39. Alzheimer’s
  40. Tetralogy of Fallot
  41. Decreased telomere length
  42. Potential drug toxicities: methotrexate, anti-epileptics
  43. Cervical dysplasia
  44. Increased bone fracture risk in post-menopausal women
  45. Multiple Sclerosis
  46. Essential Hypertension
  47. Differentiated Thyroid Carcinoma
  48. Prostate Cancer
  49. Premature Death
  50. Placental Abruption
  51. Myocardial Infarction (Heart Attack)
  52. Methotrexate Toxicity
  53. Nitrous Oxide Toxicity
  54. Heart Murmurs
  55. Tight Anal Sphincters
  56. Tongue Tie
  57. Midline Defects (many are listed above)
  58. Behcet’s Disease
  59. Ischemic Stroke in Children
  60. Unexplained Neurologic Disease
  61. Asthma
  62. Shortness of Breath
  63. Bladder Cancer
  64. Anecephaly

Alright, so here we are with a very long list of problems and it seems to be growing. The problem is, this is all relatively new research and has not been tested in large enough studies, or repeated enough for doctors to have taken the actions recommended by Dr. Lynch and several other doctors that have been doing significant research on the MTHFR mutation. The other significant researcher is Dr. Amy Yasko. Her research concerns the link of MTHFR mutations and Autism, her research ties the link of Autism to Immunizations in being that the child cannot process the toxins/chemicals if they have the mutation and thus, some children have issues with immunizations and some do not. It also is interesting to point out that autism has increased as our intake of plastics and processed food has increased (more toxins).

When to say no?

When my second miscarriage happened I was incredibly busy with school. It happened a week before school ended, I was trying to get everything taken care of with the end of the school year, prepare for finals, and going to the doctor several times, which caused me to miss many afternoons of school. The last week I didn’t have a chance to even think about what was happening to me because I needed to get everything done. I needed a way to deal with what was going on, I needed a quick easy fix. I started smoking again. It was my quick fix to help “feed” the stress I was in. As I completed the semester and started my summer vacation, I thought I would deal with what had happened. Outside I was telling myself, man this time around was much easier to deal with, but inside the pain was just chipping away.

I started gaining weight, was moody, was unmotivated and I could tell I was falling into a depression. We are now only a couple of weeks away to being able to start trying again. I told my husband  I didn’t want to start trying again because I didn’t want to quit smoking, and because of the uncertainty in our life.

Well the moodiness and depression peak a few weeks ago. I was extra moody (bitchy) to my husband. My breasts were feeling tender. My two big pregnancy signs. I had started taking Pregnitude (I’ll post more about that) about 10 days before, so I just thought maybe it was the supplement doing its job. But, here I am again having these signs. I couldn’t control the anger inside me, its like itchy frustration, it boils inside and crap just spews out of my mouth almost endlessly. Eventually it makes me snap and start crying once I realize how much uncontrollable crap is coming out of my mouth. That part happens every time I’m pregnant. I have named it, “being hormonal”. Well here I am, knowing I’m not supposed to be pregnant, feeling this way, and have even barely thought about my last miscarriage. I start crying. I go to my bedroom to be by myself while my husband plays with little buddy. I start reflecting and realize, I’m terrified, I’m truly terrified to start trying to get pregnant again. I don’t want to be pregnant right now, because I’m terrified what will happen, that I will miscarry again. These pregnancy signs are around all of the time, so its all I’m thinking about now.

I don’t know what to do now though. Do I wait, am I really not ready? What if we wait and miscarry again, and again, and how old will I be, will we stop trying. I need answers. I need God to show me something. I’ve told myself since the first time. This is God’s plan. He will give us a baby when it is time. I quickly realized I have no control over what will happen. I’ve seen too many women lose their babies at any time throughout their pregnancy. It isn’t in our control.

We really haven’t been going to church, all that much, throughout our marriage. We have been in search for a church, but with our crazy schedules Sunday’s have been one of the few days we have home together as a family and it has been hard to get out to go do it. Well my husband is interning on Sundays now. I decided now was the time I needed to be there, I needed to be in a place removed where I could meditate and “speak” to God. Where I could pray with complete focus and be surrounded by God’s Love. I decided to go to a “new” church in the area called Stone Point (its connected to North Point, Andy Stanley) This past Sunday was the last in the series called Guardrails. Part 6 was about when we have temptations in our lives its easiest to say “No” when we are farther away from the temptation than it is when we are in the temptation. But no matter what, we always have to say “No”. We can use this in so many places of our lives. Which made me start thinking about how this would this apply to my life. One place is with smoking. Those of you that smoke/have smoked know, you start craving them, you either have to wait/crave or can go ahead and light up. Well I only smoke when my son is sleeping, so before nap time, I’m always anxious thinking about having a cigarette and before bed time I’m anxious thinking about having my next cigarette. Well, if I just say “No” to having this cigarette, tomorrow I’m going to want one at nap time (say No) and one at bed time (say No)…and I just don’t have one, the next day, the want will probably be more intense, and the next day will be even more intense want, but eventually that want will diminish and it will basically go away. Every once in a while, it will come around, and since I’m so far away from the want, saying “No” will be much easier. Yup, so I quit. 2 maybe 3 days ago. Nice.

The other part of my life where I can use this is with eating. I’m realizing there are many things in my world I need to start avoiding and some foods I need to start eating. Last week I was starting to feel overwhelmed by this. Really no more cheese, no more wheat, no more plastics (we use it for a lot of stuff) I’m not sure if I can do that. Well I can apply this idea to that as well. This I’m going to take steps, little steps. I’m sure I’ll talk more about that some other time. Making these changes while I’m on summer vacation is much easier than when I’m busy teaching. It will be a process that I’ll be posing about on how I can at least make this a little less time consuming and easier.

First Post

I need to start somewhere. So here it is the beginning of my journey. This journey on bettering myself began quite a few years ago, but this year has brought on so many things that I need a place to keep my world organized. I plan to use this blog as a place to organize all of my research and a place for my family and friends to take a look into my world.

The other hope I have is this can also bring awareness so that I may help or encourage others to make changes that can better themselves and their family.

What brought me here, to this point today to start this blog? Well, first lets start off with what I was before this year. I graduated a long time ago with my degree in Civil Engineering, I think of myself as an engineer in how I handle many things. With the hit to our economy, my engineering career ended and I decided it was a time to make a switch, mainly because I was extremely bored working as an engineer. I loved the process of engineering, I loved solving problems, and I loved school. I decided to become a teacher. More specifically a Physics teacher. I went back to school to get my Masters of Arts in Teaching Physics. This is important for two reasons, I am now more versed in research and have a new appreciation for science, and what that actually means. In my Masters I learned the difference between engineering and science. In the true nature of science we are trying to learn new things about nature. Which brings me to this year.

My husband and I decided to start trying for baby number one back in 2010. We saw many people around us struggle to get pregnant, so we said, well this is the earliest we could, if we do, great. Well we did, first try. I had a pretty normal pregnancy, had all of the wonderful pregnancy symptoms, but never-the-less had a wonderful baby boy in May of 2011. This January we decided to try for baby number two. Well, actually it was February we wanted to start trying, but I got pregnant in January, excited and shocked we were on our way to expand our family a little sooner than planned. That ended about a week later. I started spotting. I went in to have my hCG and progesterone levels checked. Both came back low, and sure enough, I miscarried two days later, had my levels checked again and both were still low. The doctor told me I had to wait 2 months to start trying again. This time it took us a whole month to get pregnant. What a wonderful Mother’s Day gift, I got a positive pregnancy test on Mother’s Day. The next day I went to the doctor to get my hCG and progesterone levels checked and sure enough, they were low. The next day I had already had a negative pregnancy test, and miscarried the next day. This time I was barely 4 weeks along, basically deemed a chemical pregnancy. I saw my doctor a few weeks later, she was concerned that maybe I had a blood clotting issue, so luckily she tested me for several things. This brings me to today. I have had my results for about a week now, I have been doing non-stop research about so many things with what I have learned. All of my levels came back normal. Except something called the MTHFR gene mutation. When the nurse originally called me she said everything was fine. You only have one allele for this mutation, so they consider it negative, read the results and look up any information about the test. Well here I am. On my search for this mutation and what it means and how this may be affecting me and my family.