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Methylenetetrahydrofolate blah blah

My doctor and I are looking over the results of a recent set of blood tests. Since my tests a year ago I've given up most red meat, cut way back on dairy, gone vegetable-crazy, lost four or five more pounds, and added several walks a week to my exercise regimen, which already includes daily cycling.

The lipid numbers we hoped would go down have remained stubbornly in the red zone.

Before I can get all freaked out and start making a new list of dietary improvements, Doctor John says, "Your diet is damn near perfect, and you exercise way more than the majority of my patients. I do not want you planning more changes to your diet. I don't think further weight loss will budge these numbers either. At this point, I think we're looking at something genetic."

He thinks out loud about this for a while, then kind of slaps his forehead and says, "Oh! I know what we need to do!"



There's a symptom profile, he says, that includes a tendency to depression (check), high cholesterol that's resistant to dietary changes and weight loss (check), and...

"Oh wait, but you don't have restless leg syndrome, do you?"

"Oh my God," I say. "Yes! I've had it for 30 years and nothing I do has ever really helped."

Bingo. I have the complete symptom picture of MTHFR: Methylene-tetra-hydro-folate reductase deficiency.

It's a common inherited condition which, in a nutshell, is thought to inhibit the liver's absorption of folate and therefore its ability to fully break down fats. I'm still a bit fuzzy on the details. MTHFR deficiency also affects several neurotransmitters, which is where the depression and the restless leg syndrome probably come in.

So I left Doctor John's with two folate/vitamin B supplements, and something called BioLipotrol, and I have every reason to think improvement is on the way.

But here's the really big thing: for the first time in my whole, entire, not-inconsiderable life, I've been let off the hook. I've been told by an expert and an authority that my diet is good enough, my lifestyle is good enough, that I have literally already done everything I can do in my own support.

The relief is amazing. Toxic stress that I didn't know was there is just slipping away. It's genetic! Probably! It's not a character flaw! Really! I DON'T HAVE TO KEEP TRYING.

It's awesome.

Crossposted from Dreamwidth, where there are comment count unavailable comments.

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( 14 comments — Leave a comment )
roxymissrose
May. 8th, 2013 04:04 am (UTC)
I know that has to be a relief! And I wonder sometimes, why make us all believe that if we don't fall on certain points on a baseline, it means instant death? We're not cookie cutter folks, after all. Not that I'm advocating wrapping deep-fried twinkies in bacon and swigging them down with Bacardi milkshakes followed by cigarette chasers, but you get my drift.
emeraldsedai
May. 8th, 2013 04:18 am (UTC)
Although your prescription does sound like fun!

We really aren't all the same, and we're not statistics. I'm learning! I honestly couldn't trust my "instincts," especially about food, a few years ago. My diet was so fucked up that "instinct" was urging me on to the deep fried bacon twinkies.

But having spent some time and effort on cleaning up my act, I don't get the twinkie message anymore. My instincts actually sometimes say "Hey! Spinach!" and I try not to fight it.

But the other day they said, "Hey, ice cream!" and I didn't fight that either, and you know what? The only consequence was fifteen minutes of delicious pleasure.
roxymissrose
May. 8th, 2013 05:18 am (UTC)
*nods* You are most wise.
emeraldsedai
May. 8th, 2013 05:20 am (UTC)
I am! Damn. Ruby Jewel's Handmade Ice Cream up on North Mississippi is closed for the night.
silk_knickers
May. 8th, 2013 05:04 am (UTC)
The answer to any question in health (physical or mental) is nearly always "genes and environment," in my experience. I get very angry at weight loss scolds who spout the "calories in, calories out" mantra... it is true-ish, but such a woeful oversimplification of what is happening to that energy and to the food chemicals while they're inside you.

(I also have a rant ready to go at a moment's notice about causes-and-effects vis a vis exercise and health. Healthy people can exercise more because they are healthy, something that often gets overlooked in the discussion.)

So I'm glad your physician was not of that judgmental sort, and had a practical suggestion for you. I've been really amazed at how far you've gotten on lifestyle changes, which aren't easy, but you definitely cannot blame yourself for your digestive and metabolic enzymes! I hope these supplements are helpful in getting you where you want to be.
emeraldsedai
May. 8th, 2013 05:14 am (UTC)
I love it when you weigh in on the science side! :D

I've learned the absolute truth and the absolute untruth about calories over the last three years. I still have no indication that I can lose weight by eating too many of them, and I have a great body of data to show that decreasing them results in predictable weight loss to a point, but I also now have a hell of a lot of evidence for metabolic slowdown when I don't eat enough.

The gratifying outcome of my doctor visit today is the confirmation that I've controlled the environmental side of the equation as far as a person can in my situation, and it's okay to stop seeking further gains on that side.

I asked my doctor if everyone with this symptom profile is, like, introverted and left-handed (I was being serious, but metaphorical, if you see what I mean) and he kind of laughed and said, "Yeah, and they all have brown eyes and wear white belts." (Because I was wearing a white belt today...)

But I'm very interested in the intersection of gene expression and personality type. Still trying to pin down why I'm so unlike the rest of my family.
silk_knickers
May. 8th, 2013 05:42 am (UTC)
Recessives pop up every now and again... :) And with ~30,000 genes that interact with one another in all sorts of still-surprising ways, there's a lot of room for individuality. It's still early days for genetics, really. Watson/Crick was only the 1950s, and some of their contemporaries are still working.

Anyway, I wouldn't dare to give medical advice because I'm not that kind of doctor, but I was curious and looked it up... that *is* a real gene that does seem to be involved in some of the things your physician mentioned, so, y'know, maybe. :) There's also a urine or blood test for something called homocysteine which (if high) could be indicative of a low activity of that particular gene/enzyme, but probably other things affect homocysteine too. Most things aren't cut and dried.
emeraldsedai
May. 8th, 2013 06:05 am (UTC)
When I got home and googled around (my doctor actually put "Research MTHFR" on my prescription printout, because he knows me, and said, "Let me know if you learn anything cool"--he's great), I was pretty impressed with the specificity of the information about this deficiency and the gene involved.

What I know about genetics I've learned from very laypersonized books on science and society (though I did visit the pub in Cambridge where Crick and Watson sketched double helices on beer mats or whatever). So a lot of it, obviously, goes over my head. But it's wonderfully reassuring to me that people like you are busy unlocking the secrets one by one, and here I am, benefiting!
starfishchick
May. 8th, 2013 11:57 am (UTC)
Hooray for your doctor! But mostly hooray for you!!
emeraldsedai
May. 8th, 2013 07:08 pm (UTC)
I'm feeling amazingly liberated today!
lady_jane
May. 8th, 2013 04:32 pm (UTC)
Such a relief to have a good answer to what's going on - not just right now but the BIG historical overviews, amazing.

So much of health is genetic. I work at being healthy, but at the end of the day so much of it is genes. I love to remind my mom of that - look mom! more I can blame YOU for!! ...thank goodness she loves me.
emeraldsedai
May. 8th, 2013 07:12 pm (UTC)
LOL! I know, right? I'm 57 years old, my mother is 83, and part of me still wanted to gloat and point and say, "I dunno if it was you, or Dad, but damn!"

The large overview, for me, is a form of healing in itself. If you believe that stress is hard on health (and who doesn't?), then just letting go of my minute, bite-by-bite self-analysis is a huge boon to my well-being. I didn't really appreciate how much stress I was inflicting on myself through the effort of "curing" something that, yeah, I can just blame on my parents. LOL! I love that. It's making me laugh.
ravurian
May. 8th, 2013 09:52 pm (UTC)
Eh. I always say to my mum: nature or nurture, either way it's your fault.
emeraldsedai
May. 8th, 2013 10:02 pm (UTC)
Mothers are weird. They seem to go on loving one.
( 14 comments — Leave a comment )

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