I have been distracted from my writing lately by some devastating, but quite interesting, medical issues. I’m going to deviate from the realm of fantasy today in order to share my experience, in case it may be of benefit to others. But rest assured, my third book in the Fae of Fire and Stone series is slowly, but beautifully, coming along.
Despite the fact that I write fantasy fiction, I do have a degree in biology, and I consider myself a pretty rational person, preferring research-based medicine and the advice of board-certified physicians when it comes to my health. Yet as my chronic health issues have worsened, I have become less able to write and even to be functional throughout the day. During this struggle, I have surprised my non-confrontational self by arguing with various doctors over the years, and have even begun dipping a toe into the murky waters of self help and herbal healing. Most recently, I have had quite a few revelations after pushing for certain blood work and discovering that I have a genetic mutation called C677T, which is among the hotly debated set of gene mutations called MTHFR.
If you haven’t heard of MTHFR, I’ll let you do your own Googling, and when you do, depending on the context of your search, you will either come up with myriad sites that tote the importance of testing for this set of gene defects, lists of health conditions the mutations can potentially cause or worsen, and personal accounts of how the right supplements and lifestyle changes restored a person’s health OR you will get sites calling MTHFR genetic testing and folate supplementation unnecessary and even unsound science, and claims that doctors and naturopaths supporting such testing are really just out for money from those who are desperate enough to try anything.
What doctors do agree on, as far as I can tell, is that MTHFR gene mutations can, and often do, cause elevated levels of the amino acid homocysteine, and elevated levels of homocysteine can potentially cause visual disturbances, brittle bones, and heart conditions and is considered a risk factor for blood clots.
While I have not had the pleasure of experiencing a blood clot or heart failure, others in my family have, especially one other–my aunt–who currently has “unexplained” blood clots in her lungs and has had more heart surgeries than I like to think about. My aunt and I have been comparing symptoms and sharing test results with each other for a while now, because aside from the heart conditions and blood clots, we seem to have a lot in common. Both she and I have been recently tested for MS, and my aunt is still undergoing testing, due to many neurological issues.
When I discussed my own shaking vision and tingling hands and feet with my doctor, she asked how long it’s been going on for, and my answer kept changing. A few months. A year. No, wait, I was tested years ago for MS, I forgot! So five years, at least. But then I remembered sitting in some of my high school classes, repeatedly blinking and wondering why my vision seemed suddenly blurred at the end of each school day, and why I was so horribly, horribly tired. I realized then that I couldn’t say when it began; it’s just always been–I’ve always thought of myself as weak and clumsy, easily fatigued, with poor vision and almost constant abdominal pain. But I was too young to know what was normal, and too embarrassed to talk about it back then.
It wasn’t until shortly after having children that all hell broke loose with my health. First came a diagnosis with low thyroid, then an appendectomy, then gall bladder attacks that left me curled on the floor in agony after eating nothing but a salad. My gall bladder was removed after testing showed it was only functioning at 5%. After having two colicky, constantly crying babies who both had acid reflux (but were otherwise healthy) I decided my worn out, exhausted body was done, and opted for an IUD, which my body quickly and painfully rejected; thankfully I had the device removed before it punctured my uterus. As the lower abdominal pain continued, however, I found out I had reoccurring, large fluid-filled ovarian cysts. I was also tested for rheumatoid arthritis because my joints ached, and several times a week I would almost fall because a knee would hyperextend or “pop” and cause extreme pain. I wore braces to support my wrists–one doctor said it was tendonitis, another carpal tunnel… all I knew was that there were entire months where I could hardly use my wrists or thumbs the pain was so severe. And every once in a while, I would wake up in the middle of the night in a sweat, with a pain that felt like a hot poker stabbing through my insides (these episodes, I think I understand now, were tiny kidney stones). Every time I would lay on the bathroom floor wondering at what point I should wake my husband and go to the ER. But what could they do for me? None of the doctors I saw did anything for me, except to occasionally bring up the option of anti-depressants, which I refused, despite the fact that feeling like an 80 year old in my late 20s and early 30s really was quite depressing.
The fatigue, dizziness, blurred vision and myriad of abdominal issues continued relentlessly, seemingly no matter how healthy of a diet and lifestyle I had. I underwent a lot of testing, including an MRI to rule out MS. All of it, I was told, came back completely normal. Until I dragged myself into the doctor’s office one day with heart palpitations and severe fatigue.
I was visibly pale, the physician’s assistant noted, and my heart was beating too fast, though they were unable to capture the palpitations on an EKG (years later, I would be sent from a walk in clinic to the ER for unusual heart rhythms, only to be sent home again). I explained that I had dealt with chronic low iron most of my adult life, and my PA agreed to test my iron levels, but he also noted that my blood calcium levels, which had been tested in the past, were “a bit high.” My doctor had never informed me of this, apparently because she did not consider them out of range. This led to more testing, and a referral to an endocrinologist, who told me my levels indicated I had hyperparathyroidism. My new endocrinologist did a sestamibi scan looking for a culprit parathyroid tumor, but he was unable to find one and did not feel comfortable diagnosing me with hyperparathyroidism.
This was where my foray into “self-help” truly began, because despite the advice of my endocrinologist to simply watch my blood calcium levels and continue to eat and supplement with plenty of calcium, I was learning from a bit of research that those were the exact WRONG things to do—that the longer you sit on high blood calcium levels, the sicker you will become, and supplementing with calcium when you already have high blood calcium levels could potentially cause a stroke. Not for the first time, I began to doubt that my doctors actually knew what was going on with my body. But for the first time, I decided to do something about it—I called and had a consultation with Dr. Norman from the Norman Parathyroid Clinic, after which it was determined that I did, indeed, have hyperparathyroidism caused by a parathyroid tumor. I traveled to the Norman Parathyroid Clinic in Tampa, not once, but twice over the course of two years, to have two separate parathyroid tumors removed (you can read more about that story here). My blood calcium levels are now in the 9s, exactly where they should be, and having been cured of hyperparathyroidism, I should have begun feeling much better.
Yet, a year later, I was feeling worse than ever. I can’t even count all my symptoms, so I certainly won’t list them, but among the scariest were that objects had begun quivering in my vision, I had heart palpitations that took my breath away, and joint pain and fatigue so debilitating that at times, it felt like an effort simply to be awake and breathing. And all of this was on a daily basis. Perhaps worst of all were the terrifying lapses in memory that left me wondering for several seconds what I was supposed to be doing, and where my children were. I can’t count the times I’ve been driving and suddenly overtaken by a wave of panic as I check the mirror to see whether my boys are in the backseat or not (did I drop them off at school yet? Do they have school today? What day is it? What month is it?). I have learned, like our favorite fish friend, Dori, to “just keep swimming,” aimlessly following the rules of traffic, until my memory returns after a minute or two. And despite cutting gluten, dairy, vegetable oils, refined sugar and just about every odd ingredient from my diet, the abdominal pain continued from morning until night, and well into the night, until sleep was impossible without popping Tylenol PM before bed. And that bothered me–I’m just not one to take meds I don’t absolutely need. Heck, I didn’t even like the idea of taking Tylenol after giving birth!
What could I do but beg for more help from new doctors? Once again, an MRI looking for MS lesions came back normal, as did every other test I’ve had done recently, including all my blood work. Or almost all of it: I did have high levels of B12 and folate. My doctor’s response to this was to say it was odd, but the levels weren’t so extreme as to be worrisome to her, and that I should just stop taking any supplements with B12 and folic acid in them. So despite reading that these are water soluable vitamins and it is extremely difficult to overdose on them, I cut out my Women’s One a Day vitamin, the only supplement I was taking with B-vitamins in it. And felt even more fatigued.
After asking my neurologist about it, she told me I could safely take my Women’s One a Day, that it couldn’t possibly be causing those high levels. What’s a patient to do when her doctors disagree? Just keep digging! After my recovery from hyperparathyroidism, I knew first hand that having high blood levels of a mineral or vitamin that aren’t being consumed in excess is NOT normal. But when I tried to look up what causes high levels of B12, I could find nothing beyond some rare and very serious diseases, including types of leukemia, which I thought would have shown some other odd results in my blood work if I had indeed had them, and which I also could not find evidence of in my family history.
Speaking of family history, my aunt’s levels of B12 are also high, and her doctors have no idea why. These high levels of B12 and folate were what sent me on a quest for answers, and the relationship between folate and MTHFR gene mutations caught my attention pretty quickly, which is why I sought out another doctor and asked to be tested for MTHFR; he readily agreed. Meanwhile, as I read the impossibly long list of potential health conditions thought to be associated with MTHFR gene mutations, I couldn’t help but start ticking things off in my mind.
Blood clots? My aunt.
Heart conditions? My aunt, of course, and I should also mention the fact that my grandfather (my aunt’s father) died unexpectedly in middle age, which the coroner said was from a heart attack, despite him not having clogged arteries or other known predispositions to heart disease.
Malignant Hyperthermia and Nitrous Oxide Toxicity? My grandfather (the above-mentioned) had this as well, spiking a high fever after receiving general anesthesia, and because of this, my mom and I have always had to avoid it. My aunt and mom also have difficulties with various anesthetics and drugs, my aunt so much so that her last open heart surgery was done without any anesthesia. Yes, you read that right—my aunt was awake during open heart surgery, with only pain killers to help her through.
Osteoporosis and osteopenia? I have osteopenia in my hip, but that was likely caused by my battle with hyperparathyroidism. Oh, but wait…
Hyperparathyroidism and tumor formation? Bingo!
Hashimoto’s and/or low thyroid? I’ve got that, too, as do many of the women in my family. In fact, after my first parathyroid surgery, I woke to find that 80% of my thyroid had been removed as well, due to a massive amount of inflammation and scar tissue, all of which accumulated during those years when doctors kept testing my thyroid and telling me my levels were fine. Obviously, my thyroid disagreed.
There are too many others to list, including MS and demyelination of nerves. There is even research being done on brain atrophy in those with a C677T defect. And yes, autism spectrum disorders are also on the list, and I do have a son with Asperger’s. But let me reiterate—these are only possible associations. Having an MTHFR gene defect does not mean that you will develop any of these conditions, and doctors can’t even say for certain that a person with an MTHFR gene defect is at higher risk for them. Unless you have high homocysteine, which does put you at risk for certain things, as I mentioned earlier.
So upon receiving my MTHFR lab results stating I am heterozygous for C677T, I admit, my first reaction was, “This is it! This is what is affecting me and my family!” But despite my failing memory, I did recall enough from Genetics 101 to know what heterozygous means. It’s the old round pea versus wrinkled pea that every biology student is familiar with. Basically, for every gene there are two alleles, which both carry the potential for expression, one dominant and one recessive. When a person has two of the same alleles for a gene (two Rs for round peas or two rs for wrinkled) it’s pretty obvious what their peas will look like (if humans had peas). But what happens when you have one of each, as is the case for a heterozygote like me? Well, that depends on which is dominant, R or r. For the peas, R (round) is dominant, so a heterozygous Rr pea plant has pods with round peas. Looking at those plants physically and functionally, you wouldn’t be able to tell a difference between an RR plant and an Rr plant—they would both forever produce round peas. So if I’m heterozygous for the gene C677T, it should really only mean that I could have passed that recessive allele on to my children, but that, physically and functionally, I am just like a person who doesn’t have the gene mutation at all—ie, I should be perfectly healthy (with plenty of round peas). So maybe this wasn’t the silver bullet I’d thought it was.
From my very basic (pea-brained) understanding of what it means to be heterozygous, it made perfect sense that my doctor’s note on my lab report said, “The presence of this mutation in the heterozygous state is not an independent risk factor associated with increased risk of hyperhomocysteinemia (high homocysteine), venous thromboembolism or ischemic cardiovascular disease.” But then, what confused me was his very next statement, which said that if my homocysteine levels were found to be high, they would need to be corrected. Wait, what? Why would my homocysteine levels be high if I’m only heterozygous for this gene mutation? What kind of freaky Rr pea plant produces wrinkled peas?
Apparently there’s a thing called Compound Heterozygocity, which Wikipedia has a page on—if you’re interested, you’ll get your fill of wrinkled peas (and maybe a few more brain wrinkles, or at least a wrinkled forehead, like I did). Basically, some genetic mutations occur across various different alleles, not just one set of alleles, and some are even affected by environmental factors that can cause sudden expression of a disease. According to Wikipedia, Tay Sachs and Sickle Cell syndromes can occur in heterozygous individuals. So, yikes, there are more cases of wrinkled peas than one may think! So could my heterozygous gene mutation actually be causing some of my chronic health issues? Could it be that among the cluster of associated MTHFR genes (which weren’t shown on my lab report because they weren’t all tested for) I have another associated mutation, which, in combination with my heterozygous C677T, is causing some expression? Or could I be more suseptible to environmental factors activating expression of these gene mutations?
This is where, as far as I can tell, there hasn’t been enough long term research done to say for certain. But that doesn’t mean some of us heterozygous MTHFR folks aren’t producing wrinkled peas, and while the link between myriad health concerns and MTHFR gene mutations have not yet been proven, neither have they been disproven.
It won’t take long in the MTHFR Googling process before you discover that those with an associated gene defect are unable to tolerate folic acid, and do much better on a methyl folate supplement instead (by the way, folic acid is actually a synthetic, not a natural, form of folate). Even doctors agree on this; high homocysteine levels mean it’s time to try methylfolate in place of folic acid.
I had to rethink the whole gluten-free diet of mine as I stood pondering the ingredients of my supposedly safe Rice Krispies. Let’s see: rice, air and, low and behold, folic acid. Could eating foods and taking a vitamin supplement (my Women’s One a Day) with folic acid have been causing my high folate and B12 levels, even while I experienced a functional deficiency in folate? It all seemed like déjà vu, as this was just what had happened when I had hyperparathyroidism; I was made sick by excess calcium in my blood, yet my bones were suffering from calcium depletion, which was actually causing the excess blood levels (it’s a vicious cycle that only ends with removal of the parathyroid tumors, or, eventually, death from associated health complications).
I can’t help but wonder if any of this explains my MS-like symptoms, including the vibrating vision, since folate is essential for myelination, and demyelination is a cause for much of the visual disturbances and other symptoms of MS. And there was something else that kept popping up in all these articles I was reading about MTHFR—lyme disease.
In order to obtain that biology degree, I attended a lot of outdoor ecology and other such classes in where I went to college in Michigan’s upper peninsula, even netting and banding birds and trapping, handling and dissecting small mammals. And over summer breaks, I worked and played in the woods as a naturalist; I was bitten by countless ticks as a young adult. On top of that, many say that the C677T gene mutation places a person at a disadvantage when it comes to detoxification, therefore causing greater susceptibility to lyme and other diseases. So despite having had a negative lyme test in the past, I asked my doctor if I could be tested once more. I have since read that most lyme tests are about as accurate as a coin flip, giving false negatives 50% of the time, and sure enough, my test came back negative again, though I can’t say I have much faith in those results. And wouldn’t you know, my aunt (yes, that same aunt!) once tested positive for lyme disease, and underwent months of strong antibiotic treatment—not that she feels any better for it today.
I had other testing done, too. Remember those homocysteine levels my doctor still recommended we look at? Well, despite my being heterozygous for C677T, I do NOT have high homocysteine. If you are researching any of this, you will undoubtedly come across articles written by doctors and medical facilities telling you there is not enough long-term scientific data to support testing for MTHFR gene mutations, and that blood tests for high levels of homocysteine are all that is needed in order to recommend folate supplementation. Here is an example from Cleveland Clinic, the very place I went for my MS testing. If you don’t feel like reading another article, here’s the bit I’m referring to: “There is a genetic test for MTHFR variations. But there’s also a cheaper and more accurate way to test for whether MTHFR variations are causing disease. We simply check the levels of homocysteine in the blood. If levels are high, we can react appropriately. If homocysteine levels are normal — even if there is an MTHFR variation — then nothing needs to be done clinically.” So, in my case, despite my high blood levels of B12 and folate, despite my family history, despite my worsening, downward spiraling symptoms including many that mirror MS, if my doctor were to look only at my labs and take the advice of this article, he would tell me to…do absolutely nothing?
This sounds a lot like a typical sestamibi scan or another lyme test to me; how many people have an MTHFR gene mutations and yet, just like me, do not have high levels of homocysteine? And how many of those people are chronically ill, perhaps even suffering from serious disability, yet are ignored and denied advice to avoid folic acid and begin taking methylfolate, simply because they failed that one test checking for high homocysteine? Thankfully my doctor did more than glance at my labs and heed a line or two of textbook advice. He looked at me. He took into account my questions, my family history, and my long list of worsening symptoms and, instead of offering an anti depressant, like my previous doctors, he said, “What you’re going through is real. This is not just in your head. Let’s see what we can do for you.” Can I take a moment to give some non-professional advice to all who may be suffering chronic health issues? FIND A DOCTOR LIKE THIS!
To the medical community, I’d like to ask: wouldn’t it be more accurate to do as my doctor did and test for both homocysteine levels and MTHFR mutations? In the article put forth by Cleveland Clinic, the biggest reason cited for not doing so is cost. I beg you to glance at the cost of all the testing I’ve undergone through the years, including multiple MRIs. Had I been given the advice to try methylfolate a decade ago, I have no doubt that none of that testing would have been necessary. Claiming that testing for MTHFR is neither cost effective or necessary sounds to me just about as ignorant as the out of date protocols for high-blood calcium, which claimed for years that levels as high as 10.7 were normal, no matter your age, even though we now know that children and teens can safely have much higher levels than adults, but as Dr. Norman has tried to make clear, adults should almost always have blood calcium levels in the 9s. My levels were once 11, just .3 mg/dl higher than what my own doctors were told was normal, yet I was horribly sick and in my early 30s, already on the road to osteoporosis.
Using a child’s standard for an adult means that those suffering the devastating health effects of a parathyroid tumor are being told to watch and wait, essentially to do nothing at all, as I was.
Telling a patient that they do not have lyme disease, without explaining that a negative lyme test has a 50% chance of being inaccurate, is no better.
Doctors and medical facilities claiming testing for MTHFR is a waste of time and money are denying those of us with chronic health issues one more tool to use in assessing our health, especially for those with a family history of potential related medical conditions. No, many of the medical relationships to MTHFR gene mutations haven’t been proven, but I have a feeling many of them will be in the future, and what has been proven is that the gene defects for MTHFR do exist, and can be tested for. Why wouldn’t we use that in our arsenal of testing, so long as it is explained that the associated risks and medical conditions are only potential, and the test is not a diagnosis of a medical condition? Wouldn’t that be a bit more accurate data for a patient to come away with than to tell them, despite their suffering, despite their questions, to do nothing?
I know what most physicians would say to that, “We don’t want to cause undo worry.” I’d like to remind doctors that a patient who is coming to you with long term chronic illness is already experiencing undo worry, and any and all accurate information, along with the necessary advice from a doctor, is much appreciated. We shouldn’t have to do all of this on our own—patients aren’t the ones with accurate data and resources at our fingertips (no offense, Google). And just because we don’t have a medical degree does not mean we are incapable of understanding a physician’s interpretation of our lab results. I wish doctors would quit worrying about scaring patients and start empowering us to know as much as possible about our health, so that together we can decide if taking a different supplement and avoiding a synthetic form of a vitamin might be something we can safely try. Because if a doctor’s motto is still to do no harm, then please understand that for many, by doing nothing, doctors are doing a hell of a lot of harm.
I understand the need for proof, for long term studies. Let’s do them! Meanwhile, count me as one iota of data—nothing statistically significant, of course, but your patient, none-the-less. I am heterozygous for an MTHFR gene mutation, I have high blood levels of B12 and folate, I have blood clots and heart problems in my family, and I am NOT well. So what that my homocysteine is normal? It’s time I do what I safely can to start feeling better. It’s time to try supplementing with methylfolate, and stop consuming synthetic folic acid. And my doctor agrees. In fact, in my search for a safe multi vitamin, I have found that others agree as well. SmartyPants Vitamins is now switching from folic acid to methylfolate in all of their products, recognizing the fact that so many of us MTHFR folks cannot tolerate folic acid.
So where am I at? After four weeks of avoiding all sources of synthetic folic acid and three weeks of supplementing with methylfolate, in combination with natural treatment for potential lyme disease (since it can’t really be proven one way or another and I can’t find any harm in doing things like sweating daily to remove toxins, greatly reducing sugar intake, consuming Milk Thistle herbal tea among others to help with detox and boost antioxidants, continuing to eat a diet rich in various leafy greens and herbs, including raw garlic) I have experienced both a worsening of fatigue and a reduction in digestive issues(all that relentless abdominal pain is almost completely gone!). Most amazingly, I have noticed a reduction in both frequency and severity of visual disturbances; my vision is astoundingly clear, now, and I hardly notice the visual tremor, though it is not completely gone. I am also no longer experiencing heart palpitations (so far, anyway) or symptoms of low iron. And best of all, despite occasional deep fatigue, I have moments—hours, actually, of feeling remarkably clear-headed and, dare I say it, healthy.
I cannot say for sure, but it is possible that the worsening fatigue I’ve experienced could be a symptom of die-off from chronic lyme or some other associated microorganism, or it could be a side effect of my body’s adjustment to methylfolate after years (a lifetime, actually) of folate deficiency. The advice of many who have experienced this is to go slow, adjust your dosage as needed and keep a dialogue going with your physician.
I believe I have made very sane, if sometimes difficult, decisions for my body and my health. My doctors have not always given me the best advice in every circumstance, so I have learned to do my own research; I have also learned not to trust everything I read. I do believe there are naturopaths and doctors out there who will take advantage of people who are suffering, whose previous doctor’s have quite frankly failed them. But I also believe that there is merit in blood tests and lab results, combined with an individual’s family history and personal symptoms and good, sound advice from a qualified physician. I also believe in multiple second opinions and faith in one’s own intuition. I know I did the right thing by ignoring my first endocrinologist’s advice to “wait and watch” my high blood calcium levels. I also know that ignoring my high B12 and folate blood levels and avoiding all vitamins was not the right thing to do, while being proactive and taking a methylfolate supplement is the right thing to do. It may take a few months for me to get to a place of true health, but I believe I do have a chance at it for the first time in my life.
Between my doctors’ advice, the research of those who are dedicated to finding and sharing answers, and my own ability to make intelligent decisions, I will find a path to better health. Like the Buddhist advice to walk in moderation, this path will be a middle road; not the stagnant route of indecision, listening to those doctors who would have me follow their textbook protocols and do nothing despite warning signs simply because there isn’t enough long-term evidence behind making any changes, and neither the route of the those who swear off all medical advice of doctors who have failed them, despite the fount of valuable scientific data doctors have to back their advice.
No, I will travel the road where science and medicine are combined with my own intuition, symptoms, and family history. I have an appointment with a hematologist in order to discuss MTHFR testing for my children, since their pediatrician was not comfortable ordering it herself, but did think based on family history that we should have it done. I will see a neural opthamologist for my shaky vision per my doctor’s request, even though it is improving, and will continue to take his advice. But I will also give my own experience a bit of credit as well.
Count me as one tiny statistic anomally, if you will. A loose cog in the system, maybe even a freak. But don’t discount my very real experience, nor the experience of all the other wrinkled peas out there. As my doctor said, even if we don’t have all the answers yet, what I’m going through is real. I don’t need an anti depressant or to be told to wait around for my lab results to spontaneously correct themselves. In fact, all I ever needed was a doctor who listened.