Updated: Sep 9, 2019
In the first article of this series we talked about some important things you need to know when dealing with the genetic variant MTHFR including how you can have side effects from taking too much methylated folate and B12.
I also talked about how focusing on just the MTHFR variant fails to take into account the whole picture of your health.
There are many other methylation genes at work in your body and its important not to forget about the interplay between your diet, lifestyle, and environment. Specific environmental factors can also activate and deactivate the function of genes.
Let's now look at these principles in practice with an example patient.
The Conventional Approach to MTHFR
Sarah* is a 38 year old female who is has chronic anxiety, depression, fatigue and is starting to have pain all over her body. She has gone to her family doctor a few times and has received some routine testing which shows everything in a normal range.
Her family doctor is now suspecting a diagnosis of fibromyalgia. Her doctor orders a MTHFR genetic test and finds out she is heterozygous for both C677T and A1298C.
Sarah starts taking 5 mg of 5MTHF and 2,000mcg of methyl-B12. Almost immediately she feels awful - her anxiety drastically increases and her fatigue worsens because she can no longer sleep for more than 2 hours at a time. She jolts awake and her body feels like it is buzzing with a nervous energy.
She tells her doctor about her symptoms and he tells her to try to relax more and suggests a xanax prescription.
Not wanting to take additional pharmaceuticals if she can help it, Sarah begins to investigate natural methods to reduce anxiety and depression.
She comes across my name and reads about functional medicine and how it can offer solution to symptoms and conditions that are considered 'lifelong' and without any real treatment options.
The Functional Medicine Approach to MTHFR
Sarah comes to her new patient appointment with all of her previous blood work and genetic tests for me to look over. First, I ordered a more complete genetic test. The testing we arrange is more comprehensive and often much cheaper than genetic tests run at a hospital.
This comprehensive genetic test evaluates many genes, including COMT (involved in estrogen metabolism and detoxification, and MAO (involved in neurotransmitter metabolism) both of which she has.
Genetics and Anxiety
The presence of these two genetic variants predisposes her to have problems with metabolizing neurotransmitters like serotonin, dopamine, adrenaline, and noradrenaline.
This partially explains her anxiety. When she gets anxious her adrenaline is very high, she cannot adequately metabolize it fast enough which causes the adrenaline to stay in her system for longer than normal. This results in her to be even more anxious for longer periods of time.
Glutathione and Detoxification
We also found genetic variants associated with glutathione production - which is the body's best way of detoxing.
In addition to the comprehensive genetic testing, we checked for heavy metal toxicity and found that she had much higher than normal levels of mercury and aluminum in her body.
We determined most of her mercury load was transferred in-utero from her mother and some from mercury fillings that were incorrectly removed.
Aluminum was leeching into her sparkling water (from soda cans), and was in high amounts in her anti-perspirant deodorant - removing these sources resulting in her aluminum levels decline over the course of a few months with the help of a few chelating supplements.
Mercury and aluminum can go into the brain and disrupt neurotransmitter integrity and balance. Those with COMT genetic variants often have a more difficult time detoxifying from mercury. Mercury also impairs the function this gene.
What Causes 'Bad Genes' to Affect Health?
Sarah had these genes her whole life - so why did her symptoms start in her late 20s and early 30s?
Years of severe stress, poor diet, environmental toxins and not enough sleep strained her body to the point that it could no longer 'keep up' with the demands being made on it.
Like what happens with so many patients, she reached a 'breaking point' where her symptoms manifested and they did not go away.
Usually when patients come to me and are talking about their patient history they say things like 'I was really healthy until before my last pregnancy' or 'I never got sick until my mom died' or 'I was a different person before my operation' - these events caused a biochemical shift within the body. Functional medicine investigates what stressors caused your body to stop functioning optimally.
Removing the Symptoms of MTHFR
Sarah needed specific treatment for her heavy metal toxicity so her already impaired genetic variants of COMT, MAO, MTHFR and other detoxification and methylation associated genes could function properly.
To mitigate her symptoms of anxiety, depression and pain we removed the aluminum and mercury (through carefully supervised chelation), we gave nutritional support to her detoxification organs (liver, kidneys and gastrointestinal tract), and modified her diet to remove food sensitivities and unhealthy foods that were making her symptoms worse.
Within a couple of weeks her anxiety and depression were significantly reduced. Within a few months, she felt happy and at peace for the first time in years and was completely pain free.
She took a much lower dose of methyl-B12 and methyl-folate because the MTHFR and other genes were no longer strained - and her supplement did not make her feel sick.
Treating the Whole Person not just the Gene
Getting to fixated on a single gene can prevent patients and doctors from seeing the whole picture. Genes work in concert with each other to synchronize a flurry of activity within the body.
There are many individuals with many 'bad' genes that live to an old age without any symptoms or conditions, there are also those individuals with the 'best' genetic combinations that get sick early and are plagued by symptoms their whole life.
Genes do not operate within a vacuum. Your environment, stress level, diet, sleep patterns, emotional well-being and family history all play a role in your health. If you are having chronic symptoms then genetic data may give you a window into your health - but remember it is a part of the whole.
If you would like to speak to me to ask questions about functional medicine, MTHFR or how I can help you, please schedule a Free 15 Minute Consultation or call or text my office at 913-728-5291.
*Names and certain details of a patient may be changed to protect privacy
If you think that you may have a medical emergency, call your doctor or 911 immediately. No action or inaction should be taken based solely on the contents of this information. Nor should you ever delay seeking medical advice or treatment due to the information contained on this Website.