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I'm writing on my blog about it because it appears that I may have some of the conditions caused by this genetic mutation. The most interesting one of all is that this genetic mutation can cause a woman to bear a child with Down Syndrome. As you may or may not know, my oldest son has Down Syndrome. He was born when I was only 23 years old, and it has always been somewhat of a mystery to me why I had him at such a young age. It is much more common for a child with Down Syndrome to be born to a much older woman, at least in her forties. More curiously, my sister two years younger than me also delivered a child with Down Syndrome, her first, and she was only 18 years of age.
Her child was born first, and her husband at the time was in the Army. She said extensive testing was done to find why her daughter had Down Syndrome and they discovered that her husband had two cousins with Down Syndrome, so at the time we all breathed a sigh of relief and assumed it was “his” side of the family. Even though my niece has Trisomy-21 which is supposed to be random and not genetic at all (my son also has Trisomy-21, in simple terms this means that he has three of the 21st chromosome. At the time of conception, either the sperm or the egg gave both choromosome, instead of only one, hence the third chromosome in every cell of my son's body. And also why people with Down Syndrome tend to have similar features.)
When I was pregnant with my son the doctor was rather callous and stated (once learning that my niece had Down Syndrome and also that my father-in-law and sister-in-law were born with Tetralogy of Fallot) that we would do an amniocentesis at twenty weeks to determine whether I should continue with the pregnancy or not.
I was appalled. I told him that I would NOT consider an abortion because I was a Christian and I would never kill my baby for any reason. After I told him this, he said, “Fine. Then we'll just pretend that this is a normal, happy pregnancy.”
I transferred to a different doctor (who wasn't much better but at least he wasn't suggesting that I make a decision to abort my child).
When my son was born we did not know, we did not even suspect that he had Down Syndrome. He did not have the typical “look” that one expects when meeting a person with Down Syndrome. The only thing that tipped me off that something was not right is that he did not smile until he was about ten weeks old. This is quite late for an infant. When my son was twelve weeks old the pediatrician suggested we test for Down Syndrome. He said he had suspected it at his birth, but he didn't want to alarm anyone until he was more certain. He pointed out the Simian Crease, the big space between his big toe and next toe, the smaller than normal pinky finger which had a bend to it. When I called my sister whose daughter had Down Syndrome, she told me to not let the doctor run the tests because he was just trying to make money off of us. You see my sister had seen pictures of my son and she did not detect that he had Down Syndrome. But after the doctor gave me a printout with the typical characteristics I was pretty sure he was correct. And he was.
It was real hard on me and my husband. The world went black for about three days. We were told it was truly as if our son had died. For the child we had grown to love would be “more normal than not” but he would not achieve the life we may have already imagined and anticipated. He would still run and play, talk and laugh, but he would be limited.
At any rate, I have always appreciated that his condition was concealed from us for three months. You see as a youngster growing up our pastor had instilled a fear into us of people with Down Syndrome. “Mongoloids” she called them. “Serpent seed (i.e. A child of Satan)”. My siblings and I used to call each other stupid retarded idiots. Mongoloid idiots. And I was always afraid of people with Down Syndrome. What a blessing that my child's condition was not revealed at his birth or it could have affected my bonding with him. I loved him so much I never knew it was possible to love another human being so much.
I didn't start out this post to tell this story, but maybe I needed to tell it.
Let me switch gears… I started this post to tell you about this genetic mutation MTHFR. Actually, I want you to go over to Patty's blog and read about it, because she has a lot more information than I can give you on it.
I am going to have blood drawn tomorrow and one of the tests I have asked for is to rule out or confirm this genetic condition. If I find that I have it, maybe that is why my son has Down Syndrome. Not because, like was once suggested by my sister's granny midwife – that a curse had been placed on our blood line that all the first born children would have Down Syndrome. Of course, this granny midwife supposedly prayed to lift the curse but interestingly enough there were no more children born with Down Syndrome, and thirteen more children born to myself and siblings. I don't believe in this kind of superstitious nonsense any longer.
Okay, so far of the conditions I have seen that could be caused by MTHFR, here are the ones I have:
- Child with Down Syndrome
- Tongue Tie
- Depression, Anxiety
- Chronic Fatigue (no diagnosis but symptoms)
- Possible Suspect Primary Closed Angle Glaucoma (I have not made my appointment to rule this out yet but need to get it done!)
Conditions in other members of my family, my husband or his family
- Depression, Anxiety
- Addictions: smoking, drugs, alcohol
- Depression in Post Menopausal women
- Chemical Sensitivity
- Bipolar Disorder
- Tetralogy of Fallot
There are 57 listed at MTHFR.net.
You can pay for your own test, it costs $150.
If you have Labcorp and your doctor will order the tests, here is the numbers you want to request:
- 511238 Methylenetetrahydrofolate Reductase (MTHFR) Thermolabile Variant, DNA Analysis
- Homocystine 095638 Amino Acid Profile, Quantitative, Plasma
A few points that jumped out at me from Patty's post that I want to highlight (italics are direct quotes from Patty):
- The person with MTHFR has trouble converting folic acid, one of the B vitamins, into methylfolate
- People with MTHFR need certain vitamins, Patty lists them in the 2nd post.
- You've gotten a test for folate and B12 and the results are at the high end of the range (that's me!) but you still have fatigue. “However, that blood test looks for all forms of those vitamins and measures them together. You might have very high levels of the inactive forms and virtually none of the active methyl forms. So while you have lots in your blood your tissues are starving because the inactive form can't get in.”
- “Glutathione is created in your liver and one very important thing that it does is to help to detoxify the body from heavy metals. Interestingly enough mercury breaks the next step in the metabolic pathway after the one that MTHFR break. If you are exposed to mercury and don't make enough glutathione then your body can't get the mercury out. That mercury impairs the process that should make more glutathione which is necessary to detoxify the body of the mercury…. It's a vicious cycle. Amalgam fillings and vaccines are two ways that many of us have been exposed to mercury over the years. If you don't have enough glutathione in your body that mercury that you were exposed to many years ago is still there. It can't get out.”
- Don't take any vitamins that contain folic acid or regular B12. Avoid foods fortified with folic acid.
- Duck liver is the best source of folate. 738mg per serving.
- “Those of us with MTHFR mutations especially need methyl folate.”
- It's really, really important to detox, epsom salt baths are good and help with magnesium.
- “One important key to this is go slow with the supplements, add one at a time.”
- Take B-vitamins in the morning to help with energy.
Please go over and read through both posts for more comprehensive information. Thank you Patty for sharing your research with us!