You have a Mother what mutation?

Metabolism of folic acid. The role of Vitamin ...

Metabolism of folic acid. The role of Vitamin B 12 is seen at bottom-left. (Photo credit: Wikipedia)

Many of you may have heard about a genetic variant called methylenetetrahydrofolate reductase or  “MTHFR”  for short. While up to 70% of the population has this normal variant it is said to affect many functions in the body that can affect your health. Parents in the autism community are more familiar with this than most but it’s becoming more familiar in all areas of chronic illness. Parents in the autism community have nicknamed this pesky genetic variant “Mother FR”or the “mother-father” gene. Some have also given it as similar but foul word nick name because of the trouble it causes for their child.

Some have felt this was the cause for autism but more recent research is not demonstrating that to be true.  Rather it plays a role in autism because of how these variants affect the ability to detoxify and methylate.  Many children who have one or more of these variant gene’s do improve in symptoms when this is treated with methylation supplements.

I have a functional medicine doctor that I have been working with for over 6 years to treat my adrenal fatigue and hypothyroidism. She decided to test me for this because of my own health history and my son’s diagnosis. My son has not been tested yet but we hope to at some point. My doctor felt that if the results were positive it would help me demonstrate that this testing should be done for my child and knowing his results might help us with his biomedical management.

I got my MTHFR labs back on Friday and they were not what I expected.

I opened my email from the doctor and it said “Congratulations, you’re a mutant!”.

She has a great sense of humor!

My results said I have one copy of the C677T mutation which means I am heterozygous (meaning one copy). Those that are homozygous have two copies of the gene.  I am still learning what this means for me or for my family.

I began taking methylcobalamin several months before this to replace the B12 I was not getting in my allergy elimination diet.  Before I had done 107 rounds of chelation I could not take MB12 at all because it produced terrible symptoms for me. My conclusion for this was that I must have a methylation problems of some kind because of my mercury poisoning. So I was impressed with the progress I had made with chelation, juice cleansing and liver support.

I still don’t know for sure if my son has a copy of this gene because we have not had family testing. The potential for him to possibly have it, might explain the unusual anomalies in his previous blood testing. Several times doctors have checked his serum B12 and it has come back high. When he was 8, it was 929 in a range of 211-911 pg/ml.

I asked his pediatrician about this because there was no obvious explanation for this. I was told that “some people just have high serum B12 and don’t give him any”.

I was confused and not really appeased by the explanation. He’d never been given B12. We were not supplementing B12 or even B complex.  It was tested again a year later at age 9, and the results were 1293 in a range of 211-911. So it actually went higher and still he wasn’t on any. I was told the same thing.

All my research online didn’t reveal much about causes of high serum B12 in the absence of supplementation at that time. However, back then there wasn’t that much out there on this subject. The few occurrences I did find implicated bacterial gut overgrowth as the cause of elevated B12. However, recent articles indicate that this is the results of MTHFR. So likely he isn’t converting folic acid. (www.stopthethyroidmadness.com/mthfr)

My doctor advised me to start on 1000mcg of methylfolate per day. She did strongly warm me that it might cause bad side effects at first. If it did, I was to reduce it to 500mcg.

She’s been my functional MD for years and she knows me, so she said she expected that it was going to be rough for me because I always react the opposite of most people.

Guess what? She was correct!  No surprise…. I’m sensitive to everything anyway and why would this be any different? (Methylfolate Side Effects).

So here is what I experienced: Shortly after taking sublingual 1000mcg methylfolate I began to notice I didn’t feel quite right and I had the following symptoms:

  • shakiness
  • irritability
  • headache
  • anxious
  • fatigue
  • short of breath

So I just felt cruddy and upon referring to the MTHFR.net website regarding symptoms of methylfolate therapy I took some niacin to help reduce them which has helped but it has taken me 2 days to feel normal again.

I have not restarted methylfolate at this time. It’s going to take me a long time to forget that experience and feel brave enough to try it again at half the dose.

What I have learned out of all this has helped my son. He has always had problems with fatigue, low energy and low stamina so we began him on 500mcg of methycobalamin even though his past high serum B12 indicates he might actually need methylfolate. I am not yet ready to dive into giving him methylfolate if it might cause these same symptoms in him.

We are seeing good things with the MB12 subligual tablets. He has so much more energy and so do I!.

Want to know more? Check out MTHFR

 

 

 

 

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3 thoughts on “You have a Mother what mutation?

  1. Pingback: My MuTHr what? Part two | The Edge of Autism

  2. Pingback: Urine Amino Acids Test | The Edge of Autism

  3. Pingback: More pieces of the puzzle | The Edge of Autism

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