I’d like to lead you through a dramatic chain of events.
It all started
back in March 2013.
I went to my primary care doctor for an annual check-up
and came out with a million (ok, three) instructions. First, get an EKG. Check.
Next, get an echo-cardiogram. Check. Lastly, get some routine blood work.
Now, of these three, which do you think would be most
likely to be problematic?
Well guess what? The two (scary) heart tests came back
normative. My blood work, however, indicated that I was low in folic acid and
vitamin B-12.
“No big deal,” my doctor said. “We’ll put you on supplements
to boost your numbers and retest you in a few months.”
So I’m thinking, cool,
cool. NBD. I filled my folate
script, picked out a nice sublingual B-12, dusted off my multivitamins, and got
myself a pill organizer for the 400% increase in pills for which I was now
responsible. Side note: getting older sucks. I mean, a pill organizer?
As it does, life moved forward, I thought little of my
vitamins, and largely forgot to take them.
Flash forward
to the summer of 2013.
One of my co-workers (our program’s nurse) catches me
responding to my 1pm alarm on my phone—which pipes up every day to remind me to
take the vitamins about which I otherwise forget. Side note again: I’ve come to
find that getting older is about delegating your responsibilities…largely to
inanimate objects.
So said co-worker, who happens to be a midwife and
naturopathic doctor, asks, “What are you taking?” And like a proud mama, I pull
out my pill organizer (guhhh, age), and introduce her to each supplement and my
reasons for being on them. The next part went something like this:
HER:
Oh, you are on
folate and B-12 because you were low in your blood tests?
ME:
(all excited from introducing my new
vita-friends)
Yup. My doctor
wants me to boost my numbers and retest soon to see if I am back in the normal
range.
HER:
Okay. But I think
you should also ask to get tested for the MTHFR gene.
(I would like to note here that this gene
abbreviation looks a LOT like an abbreviation for “mother f***er. I don’t think
that’s sheer coincidence.)
ME:
What is that?
HER:
It’s a gene that
produces the MTHFR enzyme. The enzyme’s job is to convert B vitamins into their
activated forms. Sometimes the gene undergoes a mutation in some people, so
they can’t catalyze the vitamins.
ME:
(way less excited now)
Oh, so…if I have
it, is that bad?.....Am I going to die?
HER:
(I’m not making this up)
Just Google it.
ME:
(in my head)
Holy f-ing shit. I’m
dying.
So, because I am totally devoted to my health and
well-being, I do what ANY invested person would do. I DON’T GOOGLE IT. Why the
heck would I willingly want to research why I am dying??? No, thank you. I’ll stand
behind my beloved leader—DENIAL.
Now flash
forward to two weeks ago.
I switched OB-GYNs (special shout out to all my gentlemen
reading!!! ) because my old one sucked—case and point, one time, she only did a
breast exam on ONE boob (hey again to the fellas!!!). What a hack job! So
anyway, I was in the market for a new lady doctor, and found myself a local
midwife with tons of background in holistic medicine, nutrition, and…yeah…lady
bits. All things that are perfectly aligned with my own personal philosophy on
wellness.
So I made an appointment, and went in for my initial
exam. Because my doc believes in a integrative approach to medical treatment,
she asked me to bring along all lab results, previous medical records, and all medications/vitamins/supplements
I was taking so she could formulate a complete picture of how messed up I am
my medical history. Sweet!!! Another chance to introduce my pill organizer to
an unsuspecting victim!
Low and behold, once she meets my blood work results and
my folic acid/B-12 pills, she recommends I get tested for the MTHFR gene mutation.
Along with a follow up check of my thyroid, all B-vitamins, and vitamin D.
Can’t dodge fate, I guess.
So I finally yield. I take my paperwork to the lab and resolve
myself to stare death in the face (Spoiler Alert—this is an extreme overreaction). The MTHFR test is
actually incredibly simple, and is accomplished through a blood test which is
then analyzed for a mutation. After the
SEVEN vials they drew for the other orders, I walked out of there—what seemed
like—a pint of blood lighter.
Flash forward
to present day.
Well, actually, Wednesday.
I went back to my lady doctor to bite the bullet. Good news!!!
Your pap smear is normal! Bad news!!! You have two copies of the MTHFR
mutation!
Well done, doc. I see what you did there.
So yep, it’s true. I’m a mutant. An MTHFR homozygous
C677T mutant, to be exact.
Now let’s get into the nitty-gritty details. Needless to
say, I have been doing a lot of research about MTHFR over the past few days,
and I’m still coming to understand what the gene and enzyme do, as well as the
effects these mutations can have on the body and the individual. Unfortunately,
this mutation is a recent discovery in the medical field, so it is hard to come
up with a conclusive list of symptoms I might have (unknowingly) experienced or
a list of definitive risks associated with my particular brand of crazy. But
here’s what I have come to know.
How did I get it?
I’d like to give mad props to my parents. Only 1.5-15% of
the population has my type of mutation, and in order to have it, an individual
must get a copy of the mutated gene from each parent. This means that despite
the fact that no less than 75% of the
population has healthy MTHFR genes, my parents managed to find a like-mutated
partner out of an incredibly large pool of healthy people. You guys are genetic
rebels. Rock on.
What are the effects of the mutation?
This mutation is not life-threatening by any means. But I
do have trouble converting the B-vitamins in food and supplements into the activated
forms needed by the body. Left untreated, this puts me at a higher risk for
cardiovascular issues—like coronary artery disease—since it’s the job of
B-vitamins to protect you from that sort of stuff in the first place.
Additionally, B-vitamins play a huge role in the healthy conception and
development of ‘ze behbehs. So if I ever decide to bless the world with my
spawn, I’ll need to make sure my b-levels are super healthy to avoid miscarriages
and to safeguard my kiddos against spina bifida or other neural tube defects. Unfortunately,
it’s basically guaranteed that I will pass this mutation down to them, since I have
more than enough copies to go around.
What’s the treatment?
Well, instead of taking run of the mill vitamins—which you
can purchase basically anywhere—I’ll have to do something insane. Read the
labels. I need to make sure that any B-vitamins in my supplements are in their
activated form—or in fancy speak—are methylated.
This has proven a bit tricky in both regular grocery and health food stores
over the past two days. So instead, I’ve decided to order off of the internet from
a company suggested by my doctor. They should arrive in the next four days, and
I’m curious to see how I feel once I start taking them. Maybe I won’t notice
any difference. Maybe I have been experiencing symptoms from this mutation all
along, but just didn’t realize it until I took the right supplement. Maybe I’ll
feel worse. Any way you slice it, only time and swallowing pills will tell.
In the coming weeks, months, and years, my research will
continue on MTHFR. In the end, I’m just glad I know about it and was encouraged
to get the test despite my “better” judgment. Thankfully, I’ve learned about it
now, while I’m still young (in age, not at heart) and prior to wanting to start
a family. I’m also glad to be the guinea pig for my family, so I can inform
them of my situation and encourage them to get tested as well. So watch out,
world. We mutants are taking over this MTHFR.
See what I did there?
Happy Holidays, Everyone!!!
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| Me and Grumpy Cat. Both have grumps. Both have mutated genes. Soulmates Forever. |













