Wednesday, May 7, 2014

Whoa, I have the MTHFR genetic mutation

That extra blood test my doc ordered at my annual physical changed things. Her keen intuition led me to happier health. But it also explained so many things I’d wondered about for years.

Why was I so often and inexplicably tired? Why had my upper arms had white bumps, that were similar to whiteheads continually throughout my life? Why couldn’t I use laughing gas in the dentist’s chair without getting totally loony and paranoid? Why did I love chocolate so very much? Why did my body seem to need so many nutritional supplements? And why was my son born with learning disabilities and a plethora of food allergies? What gave him continual ear infections and eczema? Why was he so delayed learning to walk, talk, and ride a bike?

My test results for the MTHFR mutations blood test were homozygous C677TT. Homozygous indicated I received one such gene from my mother and one from my father. MTHFR mutation means that I have methylation deficiency. In short, my metabolism wasn’t working correctly and some of the supplements I took were actually making it worse. My impaired metabolic functions were stressing my liver. It needed to be detoxed. I had to toss supplements that contained folate and/or the cyanocobalamin form of B12. In their place, I was to take L-methylfolate and B12 as methylcobalamin.

I didn’t need a doctor’s prescription or many more doctor visits. Information on methyl deficiency abounds on the Internet. Google pulls up answers to any question I had.
I was unprepared for the flood of information. I spent the hours on the Web to learn all I could. Chances were good, I thought, that my son, Brian, had the mutation, too. I needed to get him tested.
Once I accommodated my mind and emotions to the news, I sent a letter to my 4 siblings: 

Hi, Everyone,
 Yesterday I received a stunningly odd piece of information that affects all of us. Yes, I know you’re wondering, “ huh?”

 A week or so ago at my annual physical, my doc wanted to add an additional blood test, the results of which she thought could provide additional information about why my year-long allergy elimination (LDA) program has been only so-so successful. As a side note, in the past year, I have been off all sugar (think chocolate candy), gluten, dairy - so you know I’ve been truly committed to getting rid of these annoying allergies and chemical sensitivities.

 The results of my standard blood test was great  - thanks to those great genes from Mom and Dad. Except for that odd blood test. Turns out the test was for thrombophilia risk - a genetics test.
My results - I have a genetic mutation called, MTHFR Gene C677T, as being “TT; homozygous”. Homozygous means that I received the gene mutation from both Mom and Dad, which means that you have a 75% or higher chance of having it too. My son, Brian, definitely has the heterozygous mutation - one gene from me - and perhaps homozygous if his dad, Bob, also gave him the C677T mutation. If Bob has the A1298C mutation, Brian could have 2 different mutations of MTHFR.

 This mutation explains a plethora of things that seem to run in our family: addictions, serious chocolate cravings, many allergies, mood swings, gluten intolerance (different from celiac disease), hypersensitivity, and so much more. Over the years, I’ve been put on Prozac (and other SSRI’s), depakote, thyroid meds, tryptophan, prayer, meditation, and a wide variety of natural remedies - none of which offered improvement from what I think of as general anxiety and hypersensitivity.  The mutation taxes the liver lots so that explains why I love Hot Yoga - the heat coupled with yoga detoxes the liver, and it explains why years ago we purchased an infrared sauna that I use as a “pick-me-up” when feeling sluggish. Also why I crave fresh veggies - again, they help detox the liver. And chocolate somehow helps with the symptoms of this mutation. The darker the better, as we all know. The mutation explains how I can have osteopenia although I exercise avidly 3-4 times weekly, why I’m unable to use laughing gas – nitric oxide at the dentists, and why my muscles cramp and my joints often ache.

 Biochemically, the mutation disrupts the very important methylation cycle. This affects liver function, the normal production of brain chemicals such as serotonin, and potentially causes many serious and mild health conditions. A person who has this mutation must stop taking any vitamin supplements that contain folic acid and B12 in the form of cyanocobalamine, but it’s great to take B12 as methylcobalamine.

 The good news is that a person can dramatically improve their health and often eliminate the symptoms by taking specific vitamin formulations. For the next week or so, my doc has me on an over-the-counter supplement called “Methyl CpG” plus an Rx called “deplin” which is L-methylfolate. After one day, I can’t attest to much change, but my vision has gotten surprisingly clearer. I ordered special daily vitamins to treat MTHFR from Hardy Nutritionals which I think is in Canada.
This mutation could explain Mom’s fatigue, anemia, and discomfort (especially if the docs were treating her anemia - which is a symptom of MTHFR - with the cyano form of B12) and it probably goes a long way to explaining Dad’s alcoholism as well as that of other family members.
I have immense joy and hope that a protocol similar to mine could be helpful for Brian and could lessen his learning disabilities and mood swings. That would be a dream come true. Both he and his Dad will be tested soon and I’ll keep you up to date on Brian’s experiences as well as mine.
If you are having some of symptoms of this mutation, I suggest you get a blood test. There’s a list of docs who treat this mutation on a very informative website, www.MTHFR.net. And if you google MTHFR C667T, you can learn lots about MTHFR.

I have odd feelings about all this. On the one hand, my health, energy, brain chemistry puzzle could be solved. Yeah! And I no longer need to feel guilty about having these odd symptoms and allergies. And it’s strange to write you a letter with this information. I care about all of you lots.
I wish you great joy and love,

 Lucy

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