I Tested Myself for a Genetic Defect to Seek Understanding of My Mental Dysfunctions

Caitlin Knudsen
Jul 10 · 8 min read
Photo by Štefan Štefančík on Unsplash

The future is here, whether we are comfortable with what it brings or not. Some days I’m grateful I live in this time of rapid technological advancement when I think about how easy it is to have goods delivered right to my door or how I can take a damn good photo with a cellphone. Other days, it outright terrifies me.

I remember growing up reading sci-fi novels and imagining drones and self-driving cars were the stuff of fiction. I didn’t know I would see a day where I can view my cousin’s drone photography on his Instagram account.

In high school, I watched “Gattaca” multiple times as part of my coursework — three out of four science teachers felt it was a film with an important message for our developing minds and it was certainly a movie that made me think. I felt it was truly nefarious to use somebody’s genetic makeup to treat them differently, something they had little to no control over. The scene with Ethan Hawke scrubbing his body raw to rid himself of excess skin cells is forever burned into my memory and it was hard to envision that being anybody’s reality here on Earth, a place where people were reasonable and good.

Obviously, there have been times since then I’ve questioned the good intentions of my fellow men and women as I’ve come out of my youthful naivete.

Our art reflects our reality and genetic testing has found its way into the fabric of our society, though not in the way it was presented in “Gattaca,” at least not right now and hopefully not ever.

I think the first time I realized the future was here was when my grandmother told me she had herself tested for the BRCA1 gene because of her ovarian cancer diagnosis. She had wanted me to know if I carried that risk as well — she did test negative and her ovarian cancer was caused by some other impetus.

Because she was negative, I didn’t have to think about the consequences much. I didn’t need to ponder my ovaries and what they could be harboring inside their cells. I could just go on living my life.


This past fall, my life changed dramatically. I had a burnout-induced mental breakdown, went on a lengthy leave of absence from my nursing job, and entered a partial hospitalization program for mental illness to begin to explore how I had become so utterly dysfunctional and miserable.

I decided to hack my mental illness, which I don’t recommend for everybody as I sometimes veered into an obsessive territory, but it was what made the most sense to me at the time. I was tired of being in pain and inflicting pain on the people around me. I was tired of struggling to function, so I chose accountability and got serious about my process.

I read a ton of books on topics ranging from self-compassion to perfectionism. I started meditating every day. I drastically changed my diet, eliminating gluten, sugar, and caffeine while dabbling in what foods helped me feel my best — zucchini, chicken, berries, lamb, goat’s cheese. I’ve seen many therapists and psychiatrists over the years, but I wanted to see if an alternative model would provide additional insight so I decided to see a naturopath.

I scheduled an appointment and continued to work on myself while I waited for weeks to pass. If you think the wait times to see a western-based physician are bonkers, try calling a naturopath’s office; I had to wait nearly four months to get in.

When I finally saw her, I felt immediately accepted in my process. I didn’t feel like she was pushing an agenda. I felt like she actually listened to me. She affirmed my food choices were likely to yield positive results. She talked to me about supplements. She recommended we do a genetic test.

A genetic test?

I was a bit nervous about this prospect because genetic testing can be complicated and has ethical implications. I didn’t know if I wanted to hear there was another thing wrong with me. Did I want to add another variable to my already complicated understanding of myself? But, I was in a mental illness hack mode, so I figured I could find out and then determine what I wanted to do with the results.

A few years back, we chose to test our female pug for a genetic defect that predisposes her breed to pug dog encephalitis (PDE), which is an almost always fatal condition that involves unremitting seizures. I watched a couple of the pugs we followed on Instagram pass away from it and my morbid curiosity got the best of me.

After swabbing her cheeks, much to her chagrin, and waiting a few weeks for the results, we found out she was positive for the trait. I cried a lot when I found out because my dog is precious to me, but reminded myself genetic predisposition is no guarantee. After considering the implications of her test results, I thought about what this would change for me and the answer was: nothing.

I already spent most of my free time loving her, so that would remain the same. The only thing it would change is if she had a seizure, I would mention to the veterinarian to consider PDE as a causative factor as she has the trait — it could help guide treatment.

I looked at her results in as pragmatically as I could and I would do the same with my own.

I took my forms to an area lab, relinquished five vials of my blood, and awaited the results.


At my follow-up appointment, I found out I tested positive for the methylenetetrahydrofolate reductase (MTHFR) defect with a homozygous C677T mutation. My lab report notes that this particular mutation is associated with 30% of normal enzyme activity, which can lead to elevated homocysteine levels and affect folate status. The naturopath I saw suggested this defect may be contributing to my anxiety and depression symptoms.

I started voraciously researching and I found myself navigating a maze of information. Many websites would tell me we don’t have conclusive evidence of its implications right now and to just take a metaphorical chill pill and live your life.

I found an incredibly intense website that talked about how to supplement appropriately and how other genetic abnormalities could impact the dosage and form of the supplement. It’s important to mention, this website also has links to the founder’s very own supplement company (BIAS!). I found a website that directly contradicted the information on the previous website.

I found a ton of firsthand accounts of people that both said supplementing with a methylated form of folic acid, the form some alternative providers recommend, made them feel like a new person and an equal number of people who said it made their life a living hell.

The naturopath recommended I pursue lifelong supplementation and make sure I’m consuming a lot of dietary folic acid in the form of leafy greens, which are easy to cook down and eat large quantities of.

I’ve yet to take methylated folic acid five months after the fact, but I definitely eat a lot of leafy greens. I just like them.

In the process of researching, I learned that western medicine does not recommend we test for this defect unless there’s a clear indication and there’s no clear, definitive research linking this defect to all the conditions the Internet will tell you it causes. Even 23andMe doesn’t recommend testing for it. The only thing close to conclusive I found was people with my specific mutation have an increased risk of having a child with neural tube defects, however, the overall risk is still incredibly low and easily accounted for with normal prenatal vitamin consumption. Like with many areas of study, the research goes back and forth.

Am I dying because of this defect? No.

Do I need to take some drastic measures to fix myself? No.

Do I need to freak out and run for the hills because I am a genetically broken person? Absolutely not.

I have the methylated folic acid in a drawer in my bathroom and I may attempt to take a small amount and see how my body does, but I’ve lived my whole 31 years being completely unaware this was an issue for me and I’ve been fine.

I think genetic testing is fascinating and has some interesting implications, like how law enforcement solves crimes, but I think we need to be careful about pursuing knowledge for knowledge’s sake when we haven’t thoroughly explored how we treat that knowledge and when people in positions of relative power are willing to abuse our understanding of that knowledge for their own benefit.

Telling somebody they need to test him or herself for a genetic defect involves the exchange of money. Telling somebody they need to supplement with a series of folic acid formulas you sell on your website involves the exchange of money. Telling people to buy your book about their genetic defect involves the exchange of money. I am forever cautious to follow the money when making decisions for myself. Is somebody profiting off of how I perceive myself? Is this person invested in pathologizing my existence for their own benefit?

There isn’t a standard protocol in the larger medical system for how we deal with this defect except for testing for homocysteine levels if indicated and pursuing treatment as guided by a trained medical professional. However, a person is not comprised of one genetic defect in isolation; they are an amalgamation of their genetics, their lifestyle choices, and the events of their lives thus far.

The MTHFR defect is “treated” with supplements by the wellness community and the nuance of available studies seems to be lost. Not to mention, supplements are the Wild Wild West and have their own issues in efficacy, safety, and reliability. I’ve yet to find anything close to conclusive evidence this affects my mental health, which would be the reason for me to pursue some kind of treatment in the first place; I’ve certainly had periods of my life with minimal depression and anxiety symptoms all the while harboring this defect within my cells.

Eating nutritious food helps me feel energized and doing inner work has made one of the most profound impacts on my mental health.

There’s no amount of supplementation that will change the dysfunctional patterns of thought that result from and contribute to years of struggling with mental illness. Supplementation doesn’t fix a poor relationship with the self. It doesn’t teach you how to communicate effectively or be assertive when you need to be. It doesn’t facilitate a gratitude practice or help you how to conceptualize your emotions.

I don’t feel depressed every single day anymore like I used to before this life overhaul. I may have a couple of days a month where I feel somewhat down, but doesn’t everybody? It’s not pathology to have alterations in your emotional state throughout the month.

I’ve reached this place without supplemental folic acid.

I may explore this as an additional resource at some point and perhaps science will provide us with new insights in the near future, but I don’t think I need to internalize this information and spend excessive amounts of time, energy, and money exploring the inner workings of my genetics.

I have so much more to do with my time than that.

Invisible Illness

We don't talk enough about mental health.

Caitlin Knudsen

Written by

Full-time pug wrangler and freelance writer covering topics from mental health to lifestyle. Find more writing at https://commonstate.com/author/cknudsen/

Invisible Illness

We don't talk enough about mental health.

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