When Susan* first came to see me, she was feeling pretty low. She had debilitating fatigue, and her body ached all over. Susan had been prescribed an antidepressant, and it helped with her depression a little, but she was still constantly anxious and had difficulty concentrating. Everything seemed "life or death," her performance at work was declining, and she was afraid she would lose her job if things didn't change soon.
She had a surprisingly healthy diet, and considering how tired she was, she still got in some exercise. She was confused. "I'm doing the right things. Why do I still feel this way?" A friend of hers had similar symptoms and found out she had a problem with her thyroid, so Susan asked if we could do some testing. I agreed and ordered comprehensive thyroid testing, a test to rule out anemia, and some "functional genetic" testing.
Her thyroid and anemia tests came back right away: Everything looked normal. The genetic testing came back about two weeks later with some significant findings. Susan had variations in both copies (one from her mother and one from her father) of a gene that converts folate/folic acid into its active form. The gene, called "MTHFR" (think "Mon. THur. FRi.") helps an important biochemical reaction in our body called "methylation." Because of her variations, her body couldn't use folate very efficiently. So how did this factor into her condition?
Folate, in its activated form (5MTHF), is needed for many important processes in our bodies. In Susan's case it was particularly important with relation to her neurotransmitters. Neurotransmitters are the chemicals our brains make to communicate messages to each other, and they have to be available in high enough amounts for us to successfully communicate those messages. Many of us have heard of serotonin, dopamine, and adrenalin (epinephrine), and may even be familiar with their effects on our emotions and mood. In order to make these neurotransmitters, that crucial step called "methylation" must occur. This step can be particularly difficult for someone with MTHFR variations like Susan had.
It makes sense that just giving her activated folate would be the logical next step, but clinicians have learned that this intervention alone can be problematic. In some patients, rapid introduction of activated folate causes significant side effects. So instead of introducing activated folate right away, we prepared Susan's body for the dramatic shift by ensuring the "downstream" pathways were functioning well.
Because we were cautious, Susan didn't experience significant side effects.
A few weeks into her treatment she came back reporting her coworkers had noticed a change. In my office I immediately saw the change in her mood, and even our front desk staff reported Susan sounded happier when she called. I know moods can change periodically, so I asked about something that had been consistent with her: exercise. She had exercised at least 50 percent more per week, and wasn't exhausted from it like before. Her sleep had improved, she reported her concentration was no longer an issue, and her libido was starting to return.We're now many months into her treatment and Susan has continued to do well.
Finding the variations in Susan's MTHFR gene was not the end-all be-all of her symptoms and treatment, but it was a significant factor. It opened up a window into why her depression and fatigue were so significant and why her medications weren't giving her satisfactory results. New and inexpensive "functional genetic" tests like this have opened up whole new areas of medicine and offer patients interventions that are personalized and nutritionally based. These tests have taken a significant amount of guess work into what interventions might work and explain why some people require drastically different dosages of nutrients to achieve the same outcomes. To find out if functional genetic testing could be important to you and your health, ask your doctor if these tests could be relevant for you.
Michael Stanclift, N.D.
Naturopathic Doctor in Practice in Carlsbad, California
*Patient name and details changed to protect their privacy.
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