Monday, March 30, 2015

MTHFR

MTHFR... No, it's not an abbreviation for a really bad word. Though when you're done reading this, you might think otherwise! Ha!


Let's start with this: We've been having a hard time with Ethan. He has always been difficult, which I thought was normal, but this year it seemed to be getting worse, not better. He's 5 years old now, but he was having so many problems in school, ranging from not wanting to listen or participate, to feeling tired and overwhelmed by things like the noise in music class. He would throw temper tantrums like a 2-year-old and couldn't calm down when he was angry or had gotten hurt on the playground, for instance. He wasn't connecting with his teacher or his classmates, and at home, he was negative, argumentative, and moody. I know you parents can relate and maybe this doesn't seem extreme... but he literally argued with everything we said. You couldn't just ignore it or try not to engage, because literally every word that came out of my mouth, he had to speak the opposite. It's sunny. "No, it's cloudy." It's Sunday. "No, it's Friday." It's time for lunch. "No, not lunch. Breakfast." Literally. Everything. I can't tell you how frustrating this was. And that was not all. He was so negative and unhappy. You know how on Sesame Street, they have the "word of the day"? Ethan started claiming that the word of the day was "no." Every day, the word of the day was "no" for us. It was heartbreaking to see him so unhappy, when I knew what it was like to see him happy and smiling and carefree. What had happened?

We talked to his doctor, and this is where we got so lucky. This is where God came in and just blessed us. Dr. Thomas at Integrative Pediatrics is very knowledgeable, and he treats a lot of kids with special needs. He performs a lot of research. He strives to provide parents with all of the information, so that we can make the best, most informed decisions for our kids. And that is a true blessing. I know so many parents who see Dr. Thomas and the other great staff at IP, and everyone raves about them. I am so glad we are part of the family! You can read about them here.

Dr. Thomas immediately suggested vitamin B12, vitamin D, fish oil and going wheat-free. He ordered allergy and micronutrient tests, and wanted to test for the MTHFR gene mutation. I wasn't super clear on what that was yet, but I went with it. We discovered that Ethan is highly sensitive to wheat, with additional sensitivities to dairy and eggs. We also learned that he is low in CoQ10 and pantothenate.

Most importantly, we learned that Ethan has the MTHFR gene defect. The MTHFR gene is an important gene, and one that is defective in many people. It is linked to almost every health problem imaginable, including things like deficits in childhood cognitive development, depression and chemical sensitivity. Ethan has not been diagnosed with a specific condition, but we are seeing some developmental delays and difficulty coping with emotions. His MTHFR enzyme is only functioning at about 50% (out of 100%). I am so relieved to know this, because now we know what to do about it! We are giving him special supplementation. The folate and B vitamins it contains are key. But I'm not advocating switching out your kids' multivitamin with this. Ask your doctor and test first! A wheat-free, dairy-free diet also helps.

We are already seeing great improvement. Our happy boy is making a comeback! And this is the key. If we had focused on fixing the behaviors, we might have missed getting to the root of the problem. This is something more people should know about.

Below is information taken from a really great article, found here. It goes on to discuss testing, treatment, and links to more information. I highly recommend you check it out. If you read it in its entirety, you may find that you want to get tested, because you or your child is experiencing health problems. Greg and I plan to have all of us tested now. For $99 each, we'll get the rundown on our DNA at 23andme.com.

After reading about all of this, I have come to my own conclusion. As Dr. Thomas says, the genes haven't changed. But our world has. Our world is full of toxins, from our food to our plastic to our vaccines. Yep, I said it. If your child's body can't process toxins due to this defect, then yes, vaccines can be a problem. A delayed vaccine schedule might help. Eat organic, don't microwave food in plastic containers, use BPA-free plastic. We are so encouraged by the results so far.


MTHFR genetic defect – what it is and how it can affect you


What a healthy MTHFR gene does for you

In 2003, a genetic study called the Human Genome Project was completed. And via that study, they discovered that an important gene towards your health and well-being, called the methylenetetrahydrofolate reductase (MTHFR), was defective in a lot of folks!
When it’s all working right, the MTHFR gene begins a multi-step chemical breakdown process, aka methylation, which in simplified terms, is like this:
  • The MTHFR gene produces the MTHFR enzyme.
  • The MTHFR enzyme works with the folate vitamins (B9, folic acid), breaking it down from 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate
  • 5-methyltetrahydrofolate helps convert the amino acid homocysteine down to another essential amino acid, methionine, which is used by your body to make proteins, utilize antioxidants, and to assist your liver to process fats. Methionine helps with depression and even inflammation. It also helps convert estradiol (E2) into estriol (E3)!
  • Methionine is converted in your liver into SAM-e (s-adenosylmethionine), which is anti-inflammatory, supports your immune system, helps produce then breakdown of your brain chemicals serotonin, dopamine and melatonin, and is involved in the growth, repair and maintenance of your cells.
  • i.e. a proper methylation pathway like the above is going to mean you will have a better chance in eliminating toxins and heavy metals, which can reduce your risk for cancer and other health issues, and put less stress on your adrenals.

What a defective (mutated) MTHFR gene does to you

  • It produces a defective MTHFR enzyme of different varieties i.e. it functions less than optimally, such as performing at only 40% of its capacity, or 70% of its capacity. It can mean you won’t break down toxins or heavy metals well i.e. you could find yourself with high iron, or high copper, or high lead, or high mercury….etc. High copper can also cause low ferritin, even though your iron levels look great!
  • The defective enzyme doesn’t break down folate vitamins properly (of which folic acid is the precursor to), which can cause high homocysteine, which can increase your risk of coronary heart disease (arteriosclerotic vascular disease or venous thrombosis), and related heart and BP conditions, as well as increasing your risk for dementia.
  • Homocysteine is poorly converted to glutathione, which is your body’s chief antioxidant and detoxifier. You are then more susceptible to stress and toxin buildup.
  • Homocysteine is poorly converted to methionine, and less methionine can raise your risk of arteriosclerosis, fatty liver degenerative disease, anemia (see Wiki), increased inflammation, increased free radical damage… and produce less SAM-e
  • Less SAM-e can increase depression
  • And more broadly, an MTHFR defect can increase your risk of a variety of cancers (including breast and prostate cancer), stroke, heart problems, congenital defects, depression, IBS (irritable bowel syndrome), miscarriages, migraines, chemical sensitivities and many conditions.
  • You can find yourself with high folate or high B12 i.e. your body will have problems converting inactive forms of folate and B12 to the active forms. So the inactive folate or B12 will simply build up in your serum, also inhibiting the active forms. Most serum folate tests are actually measuring folic acid, which needed to be converted to methylfolate to be used metabolically.
  • The journal Molecular Psychiatry states that “Schizophrenia-like syndromes, bipolar disorder, Parkinson’s disease, Alzheimer’s disease and vascular dementia have all been associated with one or more mutations of the MTHFR gene”.  (2006;11, 352–360)

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