what the MTHFR?!


A little less than a year ago I shared publicly about my struggle with depression, addiction, anorexia and body dysmorphia. That moment of vulnerability marked the beginning of what was going to become the most transformative period of my life.

Opening up and connecting with others about what I was going through, gave me permission to be who I am, to not pretend to be someone I'm not and to fully admit and accept that I needed help. It was 10 days later I walked into my first meeting in 12 years with a revised commitment to getting sober, finding contentment and regaining my confidence.

But before we dive into what's been going on the past 10 months, let me back up couple of decades...

At the ripe old age of 12 I was written off as being clinically depressed. By 14 I accepted a chronic fatigue diagnosis and by March of tenth grade my school threatened to hold me back because I had already missed the maximum amount of days allowed by law, simply due to the fact that my mom could not physically wake me up. The reality that I was sneaking out to do blow on school nights by the age of 16 probably wasn't helping, but I couldn't stay away from that feeling of being alert and alive, given that the rest of the time I was so lethargic and apathetic. By 18 I was also taking Adderall for my ADD, which subsequently helped me ignore the fatigue although obviously far from solved the problem. As the scale swung between 95-105lbs through my early 20s I was severely unhappy with everything about myself and sought relief from anywhere I could. By 27 I knew I had to stop the drugs and, with support, I finally did. The few months that followed were filled with an extremely painful detoxification process that included losing my ability to walk for almost 3months (but that’s a story for another day). Despite a drastic lifestyle change (former club kid/party girl, turned plant based yogi) it did very little for my happiness and self esteem. 

Ok, now with a little back story we can fast forward to my 32nd birthday and my Instagram post outing myself for depression and self loathing. It was after that post that I decided it was time to face the fact alcohol had replaced my preferred cocktail of uppers and I needed help. By 6 months sober things were decidedly better, but not the earth shatteringly better that sobriety promises. I was still depressed and exhausted. I gave up classes and turned down clients because more often than not I couldn't get out of bed or off the couch. I had changed my diet numerous times, eliminating things and adding them back, I expanded my exercise routine. I was sleeping 8-9hours every night. I had a rheumatologist, a gastroenterologist, a gynecologist, chiropractor, an acupuncturist, a massage therapist, several mentors, I laid on vibroacoustic tables, I got energy clearings by shamans, I had cards pulled and carried crystals. I did the gratitude practice, started journaling...did more yoga...more cardio, tried less cardio, strength training, I read books, listen to podcasts, upped my self-care game, napped more, added more adaptogens, changed my supplements, I eliminated plastics, started making my own laundry detergent, made my grandmother start using organic lawn spray. Air purifiers, water purifiers...I was in full detox mode...but nothing was working. As fatigue and depression continued to plague me, my self worth continued to decline. And I felt so fucking helpless.


At this point, I had already accepted that I needed help with getting sober what I needed next was help in getting healthy. I was fed up with guessing what was wrong with me. I was the unhappiest person I knew who was also the healthiest and literally had nothing to complain about. My life is so simple and so incredibly great it was killing me that I was also so fucking miserable. I knew deep down that I wasn’t meant to feel this way and that there was something bigger going on and it was beyond my scope of practice and knowledge. 

After doing some research and in speaking with friends and colleagues on their own health journeys, I turned to functional medicine. I had some crazy amount of blood drawn (like 28 vials!) and a had my genome tested. My blood work came back amazing. No heavy metals, liver function on point, cholesterol perfect, hormones in check, no deficiencies in vitamins or minerals (except vit D, but hello, NYC in January- so I’m now taking a vit d supplement), clearly all of my hard work to get healthy and my plant based diet rich in healthy fats was paying off, so WTF was wrong with me? 

What we discovered in my genome testing was a MTHFR mutation from both parents. What this means is that my body is unable to use folate (vit b9) in the form we get from food or regular vitamin supplements (folic acid, the synthetic kind is particularly toxic to people with MTHFR mutations). 

The MTHFR gene essentially holds the formula for how to convert folate into methylfolate, the form our bodies can use. The process is called methylation, and when the MTHFR gene has a mutation the formula gets jumbled and methylation can’t take place (or at least can’t take place effectively). This is a a pretty big deal given that methylfolate is an essential component for DNA synthesis and repair, neurotransmitter production (aka the messengers in the nervous system like serotonin and dopamine), detoxification (let’s circle back to 12 years of drug and alcohol abuse), producing energy, processing hormones (such as estrogen) and immune function. Basically this “activated” form of folate goes on to give its methyl group to EVERY cell in our bodies. So if it’s not activated properly or at all, well, you can imagine the significant impact it might have.

I won’t go into all the details, basically because I'm not a doctor or a scientist, but if you are interested you can read more about it through these 3 links that I found really helpful:





To make a long story short, my MTHFR genetic mutation was largely the cause of a lifetime of fatigue, depression, a dependency on substances to feel better and my nagging desire to control my body (in my case, through restrictive eating) all together creating an inability to see myself in a positive light because I felt awful all the time. As a teen I was labelled as depressed, sick, and tired and was told that I could take some pills, but otherwise there was nothing else I could do. For many years I accepted how I felt as my "normal". But as I got older I just knew in my heart of hearts that I was not destined to feel that way and I really wasn't ready to give up. 

After testing I was able to add some supplements and make a few more tweaks to my diet and lifestyle that would further support me. By adding a methylated folate supplement to my life, eliminating inflammatory foods such as dairy, gluten, and sugar, (basically anything processed), eating a mostly plant based diet rich in leafy greens, fermented foods and healthy fats, avoiding environmental toxins, plastics and heavy metals, and continuing detoxification practices like epsom salt baths, infrared saunas, exercise, and dry brushing I have turned my life around. I never knew it was even possible to feel this good. In the past 6 weeks since starting my new supplements, I have been brought to tears thinking about how unhappy I was and how debilitated I was by exhaustion and insecurity.  The feelings of relief to know I don’t have to feel that way anymore seem nothing short of an absolute miracle. 

The reason I am writing about this is to bring awareness to the MTHFR gene. Although it is still being studied and there are a lot of questions still unanswered, especially regarding the long term implications on brain health and body function, it is believed that it may affect 40% of the population. So if you feel crappy for no reason get tested. It has changed my life and my outlook on life! I work with an incredible doctor and health coach who continue to support me and help me add practices to help promote my health and energy. (I would be happy to share that information too, please just email me!) This discovery and changes I have made as a result have changed my life and I have never felt better or been happier.

Caroline McConnaughey