I’m pretty sure the people who know me in real life already suspected that. I mean, after all, I had my brain nuked. (I had gamma knife brain surgery for an arteriovenous malformation back in 2004.) I was working at a science museum with a bunch of other nerds, and my boss was convinced I was going to turn into the Hulk.
But aside from my freaky mutant gamma-radiated brain, I also now have proof that I’m a genetic mutant.
My psychiatrist has been trying to find physiological causes for my intractable depression, so I’ve been getting a ton of lab work done. The latest showed that I have a double-recessive mutation of the MTHFR gene. It means my body can’t process folic acid, which can lead to (among other things) intractable depression.
There’s a med to treat this, Deplin. It’s L-methylfolate, which is the active form of folic acid. Unfortunately, my Part D insurer is being stupid and refusing to pay for it, even though my psychiatrist faxed them the labs that prove I’m a genetic mutant. You’d think they’d want to treat it so I don’t turn into some psycho comic book antihero, but apparently they don’t read comics. You can get L-methylfolate as a supplement, but it’s only slightly cheaper to buy it that way than to pay out of pocket for Deplin. I’m looking into prescription assistance programs that might make the Deplin cheaper.
Maybe once I figure out how to pay for it and start taking it, it will help. I really hope so. I’m sick of depression.
(PS: Am I the only one who thinks MTHFR looks a lot like a certain swear word? I am a MUTANT, MTHFR!)
The Life You Save May Be Your Own 
Yes the letters for that gene look like shorthand for something impolite. But wow science has come a long way. If only insurance companies/or our government would catch up with science. Hope you get your meds and feel better soon.
Oh my! (Lol, and yes, it does look like *that* word, very much)
I’m pleased for you! I know it sounds odd, but maybe this will help you get to the bottom of things!! Any treatment that helps is a wonderful thing in my book. I’ve never heard of the particular mutation, but I know a lot of genetic issues present as mental illness, or at least mimic the symptoms of one.
I have a friend who has Wilson’s Disease which stop his body from being able to get rid of excess copper. The result, for him, is a host of neuropsychiatric symptoms that mimic a psychosis similar to schizophrenia. When he takes his medication regularly, to help his body clear out the accumulated copper, his psychotic symptoms are well controlled.
I hope you find a way to get the medication. It’s worth a try and might help so much! (I hope it does!!)
No, you most certainly are not. I want to talk to whomever is in charge of naming the genes! Those MTHFR’s are awesome!
The Cockroach
Well, it stands for methylenetetrahydrofolate reductase, so calling it “the motherfucker gene” or (in polite company) “MTHFR” is a lot easier. Also makes it easier to fit on a medical history form.
AHhHAHAHHAHAHAhahah!!!
I am so sorry you are having trouble with your insurance. I work with Deplin. Because you are homozygous for the MTHFR polymorphism (the most severe form of the mutation), you have a limited ability to break down synthetic folic acid to it’s active form, L-methylfolate. Deplin contains active, already broken down L-methylfolate which is the only type of folate that crosses the blood-brain barrier. You might want to check out Brand Direct Health. They are a national mail-order pharmacy with a guaranteed low retail price on Deplin (http://www.bdhrx.com). It sounds like your psychiatrist is being really proactive with your treatment. It is a great sign that he is looking for physiological causes. Now that you have a diagnosis to work with, I hope you will be able to try Deplin. It has made a big difference for a lot of people with intractable depression. Best of luck to you. You obviously haven’t lost your sense of humor!
[…] working with alternative treatment methods. After a ton of bloodwork, he diagnosed me with MTHFR polymorphism and put me on Deplin (L-methylfolate, the active form of folic acid). It really has been my magic […]