Ah, if only it were all so simple. I look at my older relatives and the way some of them simply go to the doctor, take what he or she says as truth, apply it and hope for the best. After all, why would you question a doctor? The person went to medical school and must certainly know more than I do. He wouldn’t try to harm me. He genuinely cares about what is going on with me and wants to achieve the best outcomes for me in the long-term, right?


I don’t want to start this post off on a foot that translates to, no, doctors don’t give a damn about you and couldn’t really care less about anything other than their own personal glory and advancement. Because I don’t actually feel that way. Western medicine had made such tremendous advancements that you can’t even believe some of the surgeries and treatments that are available today. There are so many amazing doctors out there who have devoted their lives to their patients, their research and their specialties. But this is not every doctor. Not by a long shot.

Unfortunately, I have come across more doctors in my life who were lacking than those who have blown me away with their ability to treat me and to understand my personal health issues and the best way to treat the whole me. Should I be surprised? Probably not. If I think of it as a numbers game and the fact that doctors aren’t superhuman, my experiences are probably to be expected if one looks at simple economics and human nature. I talk to a lot of people all the time and I hear of plenty of the same (or worse) experiences as I have had happening all over the world. I don’t think you can be a thyroid patient and not have a healthy sense of skepticism about the whole modern medicine shebang. We are too used to outdated and inaccurate information, incompetence, arrogance and complete lack of empathy to be so naïve. Now with MTHFR, I get to have a new experience into the world of doctors and a lesser-known, controversial chronic condition. Down the rabbit hole I go.

It wasn’t until I started going to acupuncture that I really got a taste of the divide between Western and Eastern/Natural medicine. Suddenly I was talking to a professional about vitamins and minerals, hormones and drug-free intervention. There was no medical board oversight scolding a practitioner for treating a thyroid problem effectively, or samples of pills being foisted on me from the drug companies. We talked about all of my health and how one thing influenced the other. I received specific guidance on what to eat and what to avoid. From these experiences I will now always combine the two approaches in the treatment of anything I face.

For many years I was at the mercy of the foreign public health system. If you are American and have never lived overseas, you really don’t have any idea of what you’re talking about when you cheer for socialized medicine and scorn the quality of healthcare in the United States. Oh yes, there is a lot to hate here, I know. But spend some time on waiting lists or completely without a particular specialist in your area, or receiving outdated treatments or medications and you will probably rethink your politics on this issue. I might have to travel to find a doctor who can help me in the US but at least I know he or she is out there.

Many of us spend years with the wrong doctors before finally throwing up our hands and saying that there has to be a better way to live out there. It is certainly challenging to find the right fit. My experiences with doctors have been hit or miss. Some of this has been my own fault as well. For example, for someone who is hypothyroid, I should have known a lot more about my condition than I did when I first started thinking about it for pregnancy. I always took for granted that whoever was treating me knew what he or she was doing. I never asked for copies of my lab results or knew what tests the doctors should be running and what the results meant. Now I do, of course, but I always feel a quiet sense of unease when encountering a doctor for the first time. Are they going to meet my questions with an edgy glare of superiority or am I lucky this time? This time I will learn something new about thyroid management because, thankfully, this doctor is up to date and knows what he or she is talking about. Is she going to be annoyed with me and how many tests I want done and my demands for certain medication or secretly relieved that I am a proactive patient who is dedicated to long-term, preventative health? So many doctors are just plain old lazy: they read lab results by the reference range and don’t stray too far outside of standard practice when approaching their treatment of a patient. I can’t remember the last time I had a conversation with a doctor about my diet or vitamins and minerals.

I should note that I am still looking for an endocrinologist and am currently unsure whether I am on the correct dosage of thyroid medication. It has all been trial and error since the start of the year and every three weeks I go for my lab results and adjust my medication accordingly. I think I am on the right dosage at the moment but I have to keep monitoring it. For my MTHFR, I have an appointment with a doctor at the end of August. I am very excited about a researcher I am meeting with next week to discuss MTHFR and some of the other potential issues that might be going on with me. It’s amazing how when you start down one path and start talking to people about what is going on with your health issues, how much you learn and how you are serendipitously connected to other people. That is happening for me right now and I’ll be sure to update you here after my visit and testing.

I encourage everyone to be proactive with their health and their conditions. Seek out specialists who are recommended by their patients and don’t be afraid to question your doctor or to seek second, third or even fourth opinions. In my next post I will go over some of the ways to take advantage of the vast quantities of resources that are available online, and how to use them to find a professional partner in your quest for good health. Also, you shouldn’t feel shy about your health conditions. Talk to as many people as you can about them during the course of your appointments and treatments and you will always learn something new. I can’t believe some of the discoveries I’ve made by just being my naturally curious, talkative self.


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*Updated 28 Oct 2014*

When I found out I was compound heterozygous for MTHFR, my first thoughts were of regret. I have never refused myself anything when it comes to what I now think of as toxins: rich food, wheat bread, alcohol, dairy products, sugar, fast food, etc. How much damage, I thought, have I done to my body over the last two decades? Because when you have a MTHFR mutation, your body often doesn’t detoxify as well as “normal” people. The pathways that create crucial substances in the body like SAMe and glutathione are impaired. I am lucky that, aside from my hypothyroidism, I haven’t yet been plagued with medical problems like fibromyalgia, chronic fatigue syndrome, migraines, diabetes or the many others that can affect a person with MTHFR mutations.


Of course, I’m still reasonably young in my early thirties and I have to think that those health problems could or would be coming my way as I age. I have, however, had issues over the years with anemia, mild to moderate depression, insomnia, chemical pregnancy/miscarriage, tinnitus and digestion. My homocysteine levels were elevated at 9.4 back in April.

I don’t want to turn this post into a confessional, but I was also a cigarette smoker for many years. I was proud to put them down for the last time in 2006 and hope that my quitting has restored the health of my lungs and my body. But, while I’m not an alcoholic, I do enjoy beer and wine and have never held back when having drinks with friends or during our sometimes constant travels. My husband and I would often end a stressful day with a drink or two. Sometimes this would affect me and sometimes it wouldn’t. For a long time I thought I had allergies to sulfites in certain wines because I would feel sick after imbibing them. When I stopped taking birth control pills (another MTHFR no-no that I ingested for several years), those reactions seemed to dissipate. Now I realize that perhaps it was the combination of the two toxins that was too much for my body to handle. Alcohol is actually toxic to everyone, so it would be wise to cut back or eliminate it whether you have a genetic mutation or not. I now only drink alcohol on special occasions and always in moderation.

If you are like me and also have a MTHFR mutation, you might be wondering what you can do about it. I am not the person to completely solve that mystery for you. But I am developing this site to share what I’m doing and perhaps some of my lifestyle choices and manifestations will inspire you or help you mimic the same behavior should you choose to do so. My starting point has been the wonderful website MTHFR.net and, in particular, the page there about the basic MTHFR protocol for those who have one or two copies of the C677T mutation.

The recommendations from this page that I am currently incorporating into my life are as follows:

  • A switch to supplements containing the active forms of B vitamins (6, 9 and 12)
  • Changing to a gluten-free and dairy-free diet (I am still consuming goat cheese at this point.)
  • Eating only organic food including an increase in fruits and vegetables
  • Avoidance of nitrous oxide, antacids, certain medications/drugsfoods containing folic acid and processed foods
  • Drinking only bottled water (or heavily filtered water) and having at least two liters of it a day plus daily electrolytes
  • Eating only grass-fed, free-range, hormone and antibiotic free meats and eggs
  • Improving my gut health

These are in addition to the other precautions I already take because of my hypothyroidism.

I have also incorporated a number of additional supplements into my regimen. I’ve added these slowly as recommended. The primary supplements I am taking support my body in the production of glutathione, which MTHFR patients are usually deficient in. In addition to all of this, I see a wonderful acupuncturist weekly for hormone balancing and do Pilates twice a week. I’m of normal weight and feel healthy.

Wandering the aisles at the supermarket the other day, I was overwhelmed. Both by the amount of information I’ve taken in over the last couple of weeks and also with gratitude that there is so much that I can still eat. I can’t help but think that had I discovered my condition several years ago that perhaps there wouldn’t be so many choices and so much labeling in foods and beverages for people with special diets. Ironically, I used to whiz down the “special diets” aisle thinking, thank goodness I don’t have to worry about any of THAT! Well, as it turns out I do. And I suspect that many more people also should be following a restricted diet and do not, simply because they are unaware of their health status and have no idea how much our over-processed, highly toxic lives harm our health. These mutations are pretty common and it would be beneficial for more people to get tested. Not that it will be smooth sailing once you simply find out that you have a MTHFR mutation.

Product marketing is often killing us, especially when it comes to food, drink, pharmaceutical and lifestyle choices. We cannot look to the mainstream media and medical establishments and expect to follow their doctrines and lead healthy lives. As I’ll explore in my next post, most of the things in our modern world are tailored towards the quick-fix, the fast-buck and the most convenient solution. This goes for shopping, for medicine, even for your career. Something I will aim to do with this website is to present healthy alternatives, and to talk about living slightly outside of conventional norms when it comes to health and wellness. I don’t claim to be an expert on holistic health, integrative medicine or alternative therapies, but this is a subject that I’m passionately curious about and over the last year I have delved deeper and deeper into how these practices can help me in my own health journey. As much as possible, I encourage a discussion around these topics on this website. Please share your own knowledge with me and others.

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So after a bit of an exploration of my status as a hypothyroid individual, I want to turn the attention back to MTHFR because this is the condition that has prompted me to make most of the lifestyle changes that I’ll be documenting on this blog. I should start off by saying that I have yet to find a doctor to treat me for MTHFR. After my current primary care physician wouldn’t test me for the mutations, I went off on my own and consulted Dr. Ben Lynch’s wonderful resource, MTHFR.Net. After testing positive for compound heterozygous MTHFR, I have only the internet to turn to until I can find a doctor who acknowledges this condition to be problematic. I have one candidate lined up for the end of August, which is the earliest I could get an appointment, so until then I am on my own. I am also looking into a local clinic that specializes in DNA and cellular assessment to get more information on my MTHFR. I will report back as I go with the outcomes of all of my visits to health professionals.


What prompts someone to find out they have a genetic mutation and embark on a complete and total lifestyle overhaul? I wonder as I write these first posts whether I will get readers who think I’m a crazy hypochondriac who is taking things way too far. Not that I’ve ever cared about what people think, but I look forward to meeting others who have encountered this disorder in their own lives and decided to make drastic changes. By now we’ve all heard about Angelina Jolie and her BRCA mutation. I have not been tested for this gene but both my mother and maternal grandmother have been affected by breast cancer in their lives. And MTHFR is possibly related to increased cancer risk if not properly treated.

But cancer isn’t the only thing to worry about. MTHFR, if not addressed, can lead to many serious health problems. And as I have mentioned before, I would like to become pregnant in the near future. The number of potential pregnancy complications for women with MTHFR is staggering. I hope to prevent as many of these as possible by being properly treated and monitored and also to prevent any birth defects or adverse conditions in any future children I have.

There is also increasing evidence that MTHFR mutations can play a direct role in the development of autism in young children. Interestingly enough, I was already prepared to deal with my MTHFR mutations before I even found out I had them. Autism spectrum disorders have been on my radar for awhile. I already had my big toe in the pool of organic and holistic living from six months before we even started trying for a baby. I was vigilant against genetically modified organisms and chemical exposure. I refused to eat meat that had been treated with hormones or antibiotics or fish high in mercury. I shunned fluoride, antibiotics, fabric softener, sugar, processed food, high fructose corn syrup and excessive cell phone use. This is all before I even knew that I was one of the people at risk of having an autistic child. All I knew of were the terrifying statistics – that one in 88 children are affected by Autism Spectrum Disorders.

So for me, there is no halfway or playing games with this genetic affliction. Some people may choose a more moderate approach. I don’t judge anyone or tell anyone what to do with their lives. The only person I can make decisions for is myself. And for me, a complete change in lifestyle is now required. I can’t tell you how many people, in two short weeks since I’ve known that I’m compound heterozygous, have waved their hands at me in dismissal and told me not to worry about it. I guess I should be comforted by the fact that possibly 30-50 per cent of the population has at least a heterozygous mutation of one of the genes in question? That, along with our increasingly toxic environment, may explain the increasing number of autism cases. But MTHFR being widespread does not give me pause. I think there is a lot to be said for a healthy lifestyle. It’s a choice I’ve made so that I can feel at peace with whatever happens in the future with my health or the health of my family.

These are, of course, just my first steps at this stage. I am completely new to all of this, including clean living. If you caught me a couple of months ago you would have found me eating fried chicken and biscuits chased with a couple of beers. Not every day, mind you, but often enough to disqualify me from being able to speak at all about being “health-conscious.” And this is about the time I should add the requisite disclaimers that I am not a doctor or any kind of licensed medical scholar or practitioner. Nothing that I write about on this site should be taken as advice or directive – it is simply my personal diary about what I’m doing to live a healthier life because of my MTHFR and hypothyroidism. And believe me, if I can do it, anyone can. In the next post, I’ll tell you a little bit about what I’m doing so far and my goals for the future.

If you have a comment that is related to your own health or have questions that require an answer, please leave these in the community discussion forums and not in the comments below. Thanks! =)

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