Professor X Has Summoned Me!: Discovering I have the MTFR Gene Mutation

First, yes I’m a huge nerd. On the other hand, the coolest part of this whole frustrating journey of discovery is that now I can truly say I’m a Mutant. Sadly, my powers are even more nonexistent than Jubilee’s, and I can’t do anything cool. Anyway! Yes, this week I discovered I have a compound heterozygous MTHFR (methylenetetrahydrofolate reductase) mutation. In other words, my MTHFR gene is mutated in two spots (on both alleles), with two different mutations. This seems to mean that my cells do not methylate folate/folic acid properly (apparently this is an important part of their job). This also apparently leads to elevated homocysteine levels, which is apparently bad.

So much I have been able to learn through fairly incessant research in the last couple of days. However, beyond that is a huge mire of murky controversy surrounding this particular disorder. The range of possible issues this may or may not cause stretches all the way from “nothing, you’re fine, quit overreacting” up to “the sky  is falling, you’re going to die early, and all of your past/present/future health issues are caused by this”. There isn’t even a consensus on what’s the simplest and most effective treatment, or even if it always requires treatment in the first place.

Needless to say, I’m irked, frustrated, and feeling a little lost. My new primary care doctor, who was recommended by a doctor I trust, I’m worried about being able to trust her with this particular issue. I’ve been prescribed an extremely expensive and un-insured medication (which is one of the more common treatments), but trying to figure out an alternative is a bit overwhelming given the entire lack of consensus surrounding that.

On top of all that, my blood tests revealed a wide-spread inflammation in my body, with an unknown cause (possibly the MTHFR mutation given some of the literature, possibly not) and unknown effects. Most likely this inflammation is the source of me various joint aches, swellings, and stiffnesses that occurs from time to time. Meanwhile, the same new doctor suggested I attempt to remove gluten and processed sugars from my diet in an effort to reduce the inflammation. I’m trying it, because it seems worth a shot. (Two days of success, and one fail-day out of the first three so far!) However, I feel like a complete douche trying to eat gluten free, like one of those fad-dieters who “go gluten free for their health” and the hell of it. I have no qualms about being gluten-free if I have a real allergy/sensitivity/issue that warrants it. I just worry that my doctor may be one of those caught up by the Gluten-Fad sweeping the western world these days.

Anyway. Healthcare is a weird, scary morass to navigate, and science is hard and confusing. *grumps*

Also, I want my superhero name to be The Bookewyrme, and I want to use books as my weapons.

(For anyone interested in reading a bit more, here’s a couple of links I’ve found helpful in all this: Here and here)

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