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Gene Testing Holds The Key to Chronic Medical Conditions - Why Chronically Ill Need Genetic Testing

LTM's adult daughter with MS required a full-time carer. Yet today she’s independent with no MS episodes for over 5 years. Lessons learned.

Looking For Answers To Your Chronic Illness?

Are you (or someone you love)

  • suffering from a chronic medical condition?
  • struggling to have doctors accept you have a real problem?
  • failing to respond to recommended drugs and treatments
  • afraid you'll follow the path of other family members who died prematurely (or suffered dementia)?
  • frustrated by the feeling that nothing – and no one – can help?

Three Important Medical Facts Doctors Should Have Told Me

I am a mother who went on a journey with one of my adult daughters … and we discovered there are SO many things our doctors should know, but don't. So many solutions that should be shared, but aren't. So much knowledge that should be accessible to every one of us, but for some reason is concealed from the public eye.

By sharing some of the key points we have learned during the past few years, including the importance and relevance of genetic testing, I hope to help you in your search for answers to your own chronic medical conditions.

Let me start by sharing three important medical facts doctors should have told me when my daughter became chronically ill, but weren't mentioned by GPs or even neurologists!

If you are trying to understand the cause of a chronic illness, spend some time investigating the relevance of these three issues to your personal health.

Fact #1: More than 75% of your Immune System is in your Gut Lining

I thought I knew a lot about the workings of the human body, but when I tried to think 'Where in our body is our immune system?', I was thinking thymus, lymph nodes, spleen.

When I began to actively research this question I came up with the same kind of answers. I read books and articles about the immune system, seeking a greater understanding but I learned very little that was new.

I searched on the internet for authoritative sites that would help me better understand the immune system, but was extremely disappointed with many of the results I found.

For instance, a US government website explaining the immune system to people suffering from HIV only added bone marrow and lymphocytes to my list. Nowhere in this US government's explanation and diagram of the immune system did it mention the stomach or the gut lining. (You'd think a govt site for AIDS patients would have a thorough explanation about the immune system, but no!)

If you are yet to discover the importance of the gut in a healthy immune system, make a mental note to find out more.

More than 75% of your immune system is in your gut lining!

I cannot understand why no doctor ever brought the fact that our immune systems are mainly found in our gut to my attention, particularly as I visited multiple neurologists with my daughter since her diagnosis with MS. When advising patients with auto-immune conditions, surely doctors should be mentioning the importance (and relevance) of gut care and related issues.

Suddenly it becomes clear why we really should pay a great deal more attention to the foods we eat ... and those we should avoid.

Because our gut lining plays such an important role in how effectively our immune system performs, it makes sense to feed ourselves with healthy foods.

Fact #2: A Leaky Gut Can Severely Compromise Your Immune System

I'd heard of a leaky gut, but I never knew what it meant or what the medical implications were. My daughter and I have learned a great deal more about it since she became chronically ill.

How many people actually know that a leaky gut can severely compromise your immune system? In our experience, we were not warned by doctors responsible for my daughter's care that her auto-immune condition might be somehow linked to a leaky gut. So I can't help but wonder whether or not patients diagnosed with a leaky gut are warned they may develop problems with their immune systems.

Anyone with gastric problems or a compromised immune system should further explore the implications of a leaky gut, the importance of appropriate probiotics etc.

There's lots of information on the internet, now that you know what you're looking for.

Your Chronic Medical Condition/s

Fact #3: A Faulty MTHFR Gene has been Identified in Association with Many Chronic Medical Conditions

I'm sure the world is filled with sufferers of chronic medical conditions who have never heard of the MTHFR gene, and have no idea that a fault in their MTHFR gene could be largely responsible for their current illness.

If you are unaware of the implications of a defective or faulty MTHFR gene, then you are undoubtedly also unaware of the influence that diet, lifestyle and environment can have on anyone with this type of genetic problem.

And you won't yet know that there are steps you can take to compensate for a faulty MTHFR gene ... and improve your overall health.

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It is estimated that approximately 50 percent of people have at least one defect in their MTHFR gene, so there's a very good chance that if you have a chronic medical condition, you may be among them.

What my daughter and I have learned about the MTHFR gene (and its relevance to her chronic illness) is the focus of this article.

Recovering from Chronic Illness

If you have any kind of chronic illness, I hope the information I share with you here will help you. This is, by necessity, a long article - but I trust by the time you get to the end of it, you'll feel more empowered and able to question your current status as a chronic sufferer.

Once you understand the questions you should be asking about your chronic illness, and the answers you should be seeking regarding your genetic profile - including your MTHFR gene - I hope many readers will successfully manage to reduce their suffering, and regain their health.

For those who are beyond any chance of fully recovering from their own chronic illness, what you read here may help you protect your children and other family members who share elements of your genetic profile.

As a mother who has watched her daughter suffer immeasurably, I know how important that can be.

What is Genetic Testing?

Genetic testing requires a sample of your DNA from a blood sample or a saliva swab, depending on the laboratory you choose. Gene tests can be arranged by medical practitioners, or requested privately by individuals.

Results from genetic testing identify factors specific to your body's chromosomes, genes, and proteins.

  • Medical research has identified links between specific results of gene tests and a diverse range of genetic disorders and chronic medical conditions.
  • Genetic testing helps identify the likelihood of passing specific traits and vulnerabilities on to future generations, particularly when the gene test results of both parents are assessed.
  • In addition to indicating the likelihood of a person having (or developing) a genetic disorder or associated chronic illness, a genetic profile can help individuals and their carers make appropriate medical and lifestyle decisions.

Many people are familiar with the concept of basic DNA tests to confirm paternity, maternity and ancestry, but Genetic Testing in a medical context provides a much higher level of detail and examination.

When full test results relating to your body's chromosomes, genes and proteins are available, those results can be interpreted to provide a great deal of information pertaining to your future health care.

* MTHFR gene testing can be requested in isolation, or as part of a full genetic profile test.

What does MTHFR mean?

MTHFR stands for methylenetetrahydrofolate reductase. It is the label for both an enzyme and a gene.

The MTHFR enzyme converts folate to 5-MTHF (which has a number of roles, including absorbing Vitamin B12.)

This MTHFR enzyme is the key for methylation in your body's cells.

Methylation is a process within cells that helps make biochemical conversions. In other words,

  • methylation helps repair cells,
  • helps with detoxification and neurotransmitter production, and
  • is a vital part of healthy immune systems.

Red blood cells, white blood cells and platelet production require effective methylation … which means your body needs access to the MTHFR enzyme … and, in turn, to most effectively create the MTHFR enzyme, we need a fully-functioning MTHFR gene.

There's no way most of us could ever remember 'methylenetetrahydrofolate reductase', but you don't have to. Just remember 'MTHFR'.

How to Remember MTHFR

If you think you'll have trouble remembering the letters MTHFR when you get to your doctor's office to ask for the test, try remembering MOTHER. Cross out the O and the bottom of the E.

Grab a pen and try it. You'll be left with MTHFR.

What do I need to know about the MTHFR Gene?

Essentially you need to know if your MTHFR gene is healthy and fully-functioning … or if it is defective in some way.

You receive the MTHFR gene from your mother … and a second copy from your father. In an ideal world, both your mother and your father will contribute healthy MTHFR genes. However, there is potential for a number of different combinations of mutations within our MTHFR gene.

The first MTHFR mutation to be identified was C677T, in 1995. It was six years later, 2001 when the second mutation (A1298C) was discovered. These remain the two most common, however there are now approximately 50 different mutations identified within the MTHFR gene.

Until governments and medical associations take active steps to insist all doctors are educated about these MTHFR mutations - and their implications for patient care - it is likely to be informed patients taking control of their own health care who most benefit from these discoveries.

MTHFR Symptoms in my Family

If you have never heard of the MTHFR gene before, you are probably wondering what it means 'in the real world'. What kind of difference can it make to your life? How do you know if it is even worth testing for?

Let me start by using my own family as an example. A few of us have suffered at least one 'common' medical ailment that doctors couldn't adequately explain. You know the type, where doctors say, "We don't what we causes it" and "There is no cure."

Since learning about MTHFR, we have had genetic testing so I can now match our various medical issues with the results of our MTHFR tests. Here's just a few of the key problems over the years.

  • One of my daughters - food allergies, Multiple Sclerosis. Recent testing identified a mutation at 677 plus a mutation at 1298.
  • My husband - asthma, brain tumor, fatigue. Mutation identified at 1298.
  • Me - blood clotting problems, arthritis. Double mutation at 677.

Because I have a double mutation at 677, all my children will have inherited at least one mutation. That means even my kids who have not yet shown symptoms of any chronic medical condition are susceptible to future problems.

By having them tested, I can equip them with the knowledge they need to avoid following the path of their older sister who was diagnosed with MS. Instead of having years of suffering while trying to understand what caused it and how to control it, they can hopefully avoid chronic illness.

Our past success in resolving our family's chronic medical conditions was, we believed, due to using nature's medicine chest and avoiding chemical-based pharmaceuticals. Of course a lot of people thought we were mad at the time - but none of us knew about the medical implications of the MTHFR gene.

Over the years, when other people have tried - but failed - to heal using natural remedies, cynics and pro-drug activists have blamed the choice of alternative therapies.

Those of us who had success were simply branded 'lucky'. Yes, there was an element of luck because we certainly didn't have a road map indicating exactly what our bodies required.

However with a new understanding of the vital role of MTHFR plus knowledge about what our bodies need to compensate for any mutations, I believe we are now sufficiently empowered to reverse the frightening statistics of growth in many chronic conditions.

In 2015, there's enough medical research (including double-blind control testing) to indicate that bodies with a defective MTHFR gene respond badly to toxins (including chemicals found in many pharmaceuticals) - so nature's medicine chest appears to be the absolute hero in our family's story.

As genetic research continues and more specifics about mutations in other genes are discovered, our future health should be even further improved.

These are exciting times.

Medical Implications of a Defective MTHFR Gene

If you learn you have one or more mutations in such an important gene, it may be a shock for many of you. However it can also be a welcome relief.

Why? Because if you suffer from one or more chronic medical ailments (including the many conditions listed on this page), once you understand the role of the MTHFR gene, you can address many problems associated with it … which in turn may help relieve at least some of the symptoms currently attributed to your 'illness'.

As you read, discuss and learn more about the role of the MTHFR gene (and MTHFR enzyme), the following lists will start to make more sense to you.

General Problems with Defective MTHFR Gene

Let's start with some general problems if you have a defective MTHFR gene. Please note, all my lists are presented alphabetically - not in order of any particular significance.

You might wonder why 'addictive behavior' is included in this list, because it could be argued it is not a chronic medical condition. However, it is considered a symptom of sorts - and if you identify with having an 'addictive' personality, it might offer a further a clue.

  • Addictive behavior (eg drugs, gambling, smoking)
  • Difficulty processing folates
  • Inability to naturally detox
  • Increased cancer risk
  • Potential renal failure
  • Retention of heavy metals (lead, mercury, aluminium)

Now I urge you to take note of all these general problems that medical research indicates can be associated with a defective MTHFR gene.

Here's why:

  1. Because you might not yet be aware that you have difficulty processing folates, (Once you learn more about folates, methylation, B12 - and the potential danger artificial folic acid holds for you, the importance of this aspect will become more clear.)

  2. If your body is not naturally detoxing, you are carrying around a toxic load. Toxicity within your body can result in a range of symptoms that might be exactly the same as some of the symptoms associated with your chronic illness.

  3. Many of the symptoms you struggle with every day may have more to do with an inability to effectively process folates (and your body's inability to naturally detox) than you realize.

    A person who manages to avoid or control symptoms associated with MTHFR mutations may not require chemical drugs generally prescribed for their 'medical condition' ... and therefore not be faced with the dilemma of trying to establish whether or not the drugs they are taking are actually contributing to their ill health, instead of helping fix it.

Is Your Chronic Illness Linked with MTHFR?

The following conditions - and more - have already been included in medical research, and been found relevant to patients with defective MTHFR genes. Results have been published, but too few of us (and too few of our doctors) are aware of them.

If you have developed any of the following medical ailments, correct identification of any mutations in your MTHFR gene will allow you to make relatively simple adjustments to your lifestyle, diet, supplements etc - to rectify problems associated with the defective gene's effects on your body.

Will that improve, reduce, reverse the symptoms associated with your chronic illness? The only way you can know for sure is to make the changes and monitor your own progress (with the help of a medical professional.)

An increasing number of sufferers and medical practitioners are reporting success.

Medical Ailments linked to MTHFR include ...

  • ADHD
  • Allergies
  • Alzheimer's
  • Anemia
  • Anxiety
  • Autism
  • Bipolar Disorder
  • Birth defects
  • Breast cancer
  • Cancers
  • Cardio Vascular Disease
  • Celiac
  • Chronic Fatigue
  • Chronic Pain
  • Colon cancer
  • Crohn's
  • Deep Venous Thrombosis
  • Dementia
  • Depression
  • Diabetes
  • Down's Syndrome
  • Eczema
  • Elevated Homocysteine
  • Endometriosis
  • Epilepsy
  • Fibromyalgia
  • Goiter
  • Heart murmers
  • High blood pressure
  • Homocysteine levels
  • Hypertension
  • IBS
  • Infertility
  • Lupus
  • Migraines
  • Multiple Sclerosis
  • Parkinson's
  • Peripheral arterial disease
  • Pre-eclampsia, neural tube, cleft lip
  • Psoriosis
  • Rheumatoid Arthritis
  • Schizophrenia
  • Spina Bifida
  • Still Births
  • Stroke
  • TetraHydroBiopterin problems
  • Thyroid (both hypo and hyper)
  • Turner syndrome
  • Type 1 Diabetes
  • Varicose veins

Importance of Identifying Specific Gene Mutations

It is important to remember that a 'faulty' MTHFR gene can manifest in many different ways. My symptoms are likely to be very different to your symptoms.

The specific location of the mutation can influence the likelihood of being labelled with a particular 'chronic illness'. Some studies, for instance, may say C677T is not implicated in one condition - but A1298T is. Other conditions may be linked to either of the two common mutations. And some may be more likely to require one or more mutations in both locations.

Even if two people have identical mutation locations, their symptoms (and therefore the chronic condition they are diagnosed with) may be very different. This can be influenced by the amount of toxins in their body, their environment, their diet etc.

This explains why one family member can develop a completely different 'condition' to another. Perhaps the father, for instance, suffers from depression and alcoholism and the son (with the same mutation) suffers from ADHD and anxiety.

A number of women in one extended family may develop breast cancer, while other female relatives don't. Perhaps they managed to escape receiving the mutation ... or perhaps they have a diet and lifestyle that reduces the impact of the mutation.

To further complicate (or perhaps simplify) your understanding of how your genetic profile can influence your general health, particularly in relation to chronic illness, it is important to remember that there are many other genes within an individual's body that may also have mutations. How these various genes interact can directly influence your health status, and potential problems.

But for now let's start with the vital functions of the MTHFR gene.

Hopefully further research and studies will concentrate on revealing specific lifestyle choices and environments that help reduce the dangers, beyond what we already know.

Here's some examples of grouping on Dr Ben Lynch's website, These lists should not be considered complete or set in stone. They are, however, an illustration of chronic illnesses that have already been found to be linked to a faulty MTHFR gene.

An A1298C Defect / Mutation in your MTHFR Gene can result in / contribute to:

  • ADHD
  • Chronic Fatique
  • Dementia
  • Depression, anxiety, IBS
  • Fibromyalgia
  • Infertility
  • Migraines
  • Multiple Sclerosis
  • Parkinson's
  • Rheumatoid Arthritis
  • Schizophrenia
  • TetraHydroBiopterin problems
  • Turner syndrome

A C677 Defect / Mutation in your MTHFR Gene can result in / contribute to:

  • Anxiety
  • Breast cancer
  • Cardio Vascular Disease
  • Colon cancer
  • Deep Venous Thrombosis
  • Depression
  • Down's Syndrome
  • Elevated Homcysteine.
  • Hypertension
  • Infertility
  • Migraines
  • Peripheral arterial disease
  • Pre-eclampsia, neural tube, cleft lip
  • Still Births
  • Stroke

Breast Cancer study

Understanding MTHFR Genotype Test Results

If your MTHFR gene is mutated, your test results will indicate if you are 'Homozygous', 'Heterozygous', or 'Compound Heterozygous'.

Here's what this means …

  • If you are heterozygous, you received a fault in one place from one parent.
  • If you are compound heterozygous, you received a fault in one place from one parent – and a fault in another place (from the same or the other parent).
  • If you are homozygous (Homozygous C677T, for instance), both your parents contributed a mutation at that same location within the gene.

So what does that actually mean? Long words don't explain much to the average person battling a chronic disease.

  • Having one single mutation drops the efficiency of your enzyme activity to about 60 percent. (Heterozygous.) You are vulnerable to specific symptoms of medical conditions relevant to the specific mutation - although it doesn't mean you'll develop them. Any mutation requires lifestyle and diet changes to compensate for your decreased enzyme efficiency.
  • If you are compound heterozygous, your enzyme activity is compromised in more than one way … so you can potentially develop an even greater list of medical problems.
  • Homozygous? (Double mutation in one place.) Research indicates that MTHFR enzyme activity can drop to as low as 10 to 20 percent (some say 40%) of normal if you are homozygous.
  • The greatest risk would seem to be associated with being homozygous (ie mutations from both parents) in more than one place – for instance 677 and 1298. Yet since learning about MTHFR and discussing it with others, I have learned of individuals who successfully manage to avoid chronic illness and symptoms by careful management, despite having multiple homozygous results.

Regions of 'Double' Mutation of 677T (like mine)

Population frequency of 677T homozygosity by geographic area. Ethnicity is also indicated for some populations. ( for more information.)

Population frequency of 677T homozygosity by geographic area. Ethnicity is also indicated for some populations. ( for more information.)

Which Chronic Medical Conditions Can Be Linked To MTHFR?

Whatever your medical condition is, google it alongside MTHFR gene. If your problem is low HDL, google 'low HDL and MTHFR gene'.

If you suffer from Type 1 diabetes, high blood pressure, or epilepsy … or if you want to check for heart murmers, bipolar disorder, spina bifida, Alzheimer's or other dementia, enter it in your search engine along with 'MTHFR gene'.

Obviously there must be some chronic medical conditions that have not been linked to a defective MTHFR gene (or perhaps not yet researched in that context), but I'm not aware of what they might be.

Do your own quick research on the internet to see if there is any existing indication that your chronic medical condition might be linked to MTHFR. Then promptly ask your doctor to test you to establish whether or not you have a healthy, functioning MTHFR gene!!

Does my Whole Family Need Genetic Testing for MTHFR?

Do you or a family member have any kind of medical ailment that doctors say 'might be' genetic? Do other relations have similar conditions - or some of the chronic illnesses listed on this page?

If you suspect there's an MTHFR mutation in your family's bloodline, have every member of your family tested. We are talking about a gene. Genes are passed from one generation to the next.

Here's some examples of the type of family I believe should have all members tested. (Remembering of course, I'm not a doctor; just a mother with a defective MTHFR gene who has stood back and looked at the big picture being revealed - and is now sharing my thoughts and observations.)

  • The family where depression and anxiety are common traits. When one or both parents suffer from depression; a child is unusually anxious; any family member (including cousins, uncles, aunts etc) attempts suicide or self-harms; there's any evidence of addictive behavior - and that can range from alcohol or drug abuse to a seemingly harmless 'addiction' to video games - or even 'work'. (Is someone in your family a workaholic?)

  • Families with 'catch-22' or 'ping-pong' health issues. For instance, dad has post-traumatic stress and drinks excessively. Mum has depression. Kids have behavioral 'issues'.

    Observers may say, "No wonder dad's drinking, he has PTSD. Not surprising mom's depressed; her husband is always drunk. And of course the kids have issues." While that may be the traditional view, perhaps they all have MTHFR mutations that are exacerbated by their current diet and lifestyle they share. Symptoms could potentially be greatly relieved with a few changes.

  • Any family with more than one example of breast cancer ... or MS ... or heart problems. If your family tends to suffer autoimmune conditions, or any other 'group' of medical conditions, I suggest you all get tested.

If your MTHFR gene is faulty, there is a very real chance that other family members may also have a defect. They need to know about it, and they need to take active steps to avoid developing their own future medical issues.

Some may already have chronic illnesses, or be on the verge of developing one. So get them tested quickly!! Those who have managed to escape receiving a mutation will be relieved to know about it.

Depending on where you live in the world, there is probably a cost associated with genetic testing for MTHFR.

In Australia, to save money, have one family member tested first. Your GP can arrange it for a reasonable cost. If the results of the blood test show any kind of MTHFR mutation, your doctor can refer other direct family members for testing - and it is covered by Medicare, so there is no charge.

Other countries may not provide this free service, so before you spend more money than necessary on gene tests, let's look at whether or not every member in your family needs to be tested.

Testing Just Two Members of a Family

If you have a large family in a region where free MTHFR testing is not available, instead of paying for genetic testing for all your children, you could begin with testing just mom and dad.

Any genetic mutation that's identified can potentially be passed on to children. It is not worth just 'guessing' the likelihood of individual children inheriting mutations. If defects are found in either of the parents, arrange testing for your kids. Each child will benefit from making specific adjustments to compensate for the specifics of their own mutation/s.

If both parents are clear of all MTHFR mutations, there's no apparent need to test your children. Presumably you've both passed on a healthy gene.

I guess there must be some potential for developing a new mutation (existing ones must have started somewhere) but I don't know what those circumstances might be.

However, if your MTHFR genetic testing comes back clear but you are still concerned about numerous health issues within the family, start looking for other genetic discrepancies. I am not suggesting for one moment that MTHFR is the only possible genetic culprit. Even if there's no current indication of other genes being linked to your medical problems, that may change in the future. So keep looking.

Request Genetic Testing

Please don't just change doctors, waiting for one to suggest genetic testing. Raise the issue directly with your health care provider - and insist on being tested.

There may be a cost involved, but that's an investment in your future health ... and your family's future.

If governments wish to minimize the costs associated with many of our current health problems - and reduce the potential numbers of dementia patients in our aging society, they'd be well advised to provide free MTHFR testing for every individual, and educate all health care professionals (and the public) on how to best cope with mutations.

What can I do if my MTHFR Gene is Faulty / Defective / Mutated?

Don't panic if your test results show you have a defective MTHFR gene. There are ways to address the problem which, in turn, should help address symptoms associated with your medical condition.

Wouldn't that be nice?

As sad as it might seem to learn you have one or more mutations, in many ways that discovery is cause for celebration.

Imagine if you could 'miraculously' recover from a chronic disease that has caused you grief (and cost a fortune in medications) for years. What a relief!!

Let's assume you've had the MTHFR genetic testing and received the results. You have at least one mutation in your MTHFR gene. So what can you do now to get yourself on the road to recovery?

1. Take advice from an appropriate practitioner

When faced with a major health problem, most people put themselves in the hands of an appropriately-qualified specialist. Sadly, however, if your current specialist is not familiar with the medical implications of MTHR gene mutations, you have to question whether or not they can still be considered 'appropriately qualified'.

Find an appropriate medical practitioner with an understanding an appreciation of the role of the MTHFR enzyme and gene to help you address the MTHFR issues.

If your current doctor didn't suggest the test without prompting from you, it may not be wise to trust them with your ongoing care ... unless you are confident they will conduct their own appropriate research into MTHFR and discuss treatment options with you.

Try to find a 'Functional Practitioner' who can help you. Listen to their advice, and learn from them. If you don't have a functional practitioner nearby, visit the websites of some with an online presence.

2. Increase your NATURAL folate intake

Immediately take active steps to increase your NATURAL folate intake. There is a huge amount of controversy surrounding folic acid (the artificial attempt to mimic folate), and you need to tread carefully from here on.

Stay away from anyone who tries to convince you that 'folate' and 'folic acid' are one and the same. That's a definite warning bell. Don't take folic acid supplements, even if your doctor suggests them.

Point out to your doctor there is a definite difference between folic acid and natural folate - and tell them medical studies show 'artificial folic acid' can accumulate within the body of a person with a compromised MTHFR gene, causing additional problems and symptoms.

You must avoid 'folic acid' in the form found in most multi-vitamins (and even many of the products made by companies you think only use 'natural' products) because when it is made from synthetics, your body will struggle to detox the excess.

  • Buy a NutriBullet (if you don't already own one) and use it to prepare fresh organic produce that can be easily digested - including lots of healthy greens. Because it can be used by people whose ability to methylate is compromised to prepare foods high in natural folate, I believe the NutriBullet is far more valuable to our health than its manufacturers realize.

Read conversations between others online with your specific mutation/s to establish what your best options are for increasing folate by other means ... but still continue feeding your body healthy greens and other naturally folate-rich foods.

Folic Acid during pregnancy

Important note if you are pregnant or planning to become pregnant ... Please stop taking folic acid capsules or tablets - and start taking plenty of natural folate-rich foods instead.

  • If you have an MTHFR mutation, folic acid could potentially be creating avoidable problems in your own body. (I took folate capsules as instructed during my last pregnancy. With the benefit of hindsight, they were probably the reason why my symptoms of arthritis increased so dramatically.)
  • Folic acid could also potentially be creating additional problems for your unborn child.

Don't stress too much if you took folic acid while you were pregnant before learning about MTHFR. Millions of mothers (including me) were told by our doctors we must take folic acid during pregnancy. We can't turn the clock back and change that now.

For current and future pregnancies, however, the safest option would be to avoid synthetic / artificial folic acid.

  • Use natural folate-rich foods during pregnancy instead of folic acid supplements - even if the mother has a perfect MTHFR gene. Here's why ...

Let's assume a mother has a perfect gene, so she passes on no mutations. But the father has at least one mutation that is passed to the unborn child. Mother takes folic acid during her pregnancy and it has no obvious detrimental effects on the mother's health.

But what about the baby? The unborn child shares the mother's blood. I don't know enough about the metabolism of a foetus to know how detoxing works before birth ... but as soon as the umbilical cord is cut, the baby's body has to cope with any toxins or chemicals remaining in its system.

Is it really a good idea to give any newborn baby the challenge of detoxing residue from artificial folic acid? (And are you absolutely certain your unborn child will not be among the estimated 50% with defective MTHFR?)

An increasing number of medical practitioners suspect the current practice of insisting every pregnant woman take folic acid supplements is likely to be contributing to health problems in our youngsters. ADD, ADHD, anxiety etc.

There is no doubt folate is important when we are pregnant ... but if 50% of the population is believed to have a defective MTHFR gene, why aren't women being advised to increase NATURAL folate? Even if we have trouble processing it to maximum efficiency, at least we can reasonably expect to expel any natural folate that's unused.

Folate has been identified as a significant factor in avoiding birth defects (which is why we're told to take supplements during pregnancy.) Logic states - to me, at least - that every woman should have genetic testing to ascertain the real reason why so many women are folate deficient ... before, during, and after pregnancy. They've probably been folate-deficient their entire lives ... due to a defective MTHFR gene!

Instead of pushing folic acid supplements during pregnancy, why not address the mutation and improve women's (and men's) health throughout their entire lives?

There are appropriate supplements to make folate more readily available to people with MTHFR mutations ... but they are not called 'folic acid' - and they are not 'one size fits all'.

In the absence of an appropriate supplement, increase your natural folate intake.

Naturally increase folate levels

Now we know why eating leafy greens can help reduce the symptoms of many chronic illnesses. The folate found in natural green foods can help your body's vital methylation process.

Now we know why eating leafy greens can help reduce the symptoms of many chronic illnesses. The folate found in natural green foods can help your body's vital methylation process.

3. Eat natural, unprocessed foods if you have a defective MTHFR gene

Anyone with a chronic medical condition is monitored by a specialist in that field. But how often does the medical expert responsible for your ongoing care discuss dietary issues with you?

Have you been referred to a nutritionist or dietician to discuss the specific effects of different foods on your symptoms or disease?

Perhaps you've been given general advice, like 'lay off the chips and beer'. But there's a great deal more to understand about the effects of different foods on anyone's body ... and if you have a mutation in your MTHFR gene, you have even more reason to understand the relationship between your body and the foods you eat.

The general rule for anyone with a mutation in their MTHFR gene is to eat natural, unprocessed foods - and to avoid foods 'enriched' with artificial folic acid.

Sadly, many countries now insist that basic foods (including breads and pasta) be manufactured with folic acid added.

Governments recognize the need for folate - and problems resulting from lack of folate in the general population.

Unfortunately, however, our governments seem unaware of the link between MTHFR mutations causing an inability to process and access folate, and our declining health.

Despite the best of intentions, governments that force us to eat foods that exacerbate problems associated with faulty MTHFR genes (ie those containing artificial folic acid) are worsening - not helping - our current health crisis.

4. Avoid Toxins - Go Natural!!

If our bodies struggle to naturally detox, we have to actively try to avoid toxins. That should be obvious to anyone. But the question then becomes, just how far will you go to avoid toxins?

From the time my daughter was diagnosed with MS, she would only eat organic GMO-free foods, avoided dairy foods, would never eat breads, only occasionally ate meat (organic free-range chicken) and made conscious decisions about what would and wouldn't pass her lips. Some key elements in her diet changed over the years as we researched and learned more, but essentially she aimed for all natural foods - and would never drink tap water, avoiding fluoride at all costs.

Instead of taking tablets for pain relief, she had acupuncture. I shudder to think how much the total cost has been for her natural alternative to pain killers, but having learned about the medical implications of a faulty MTHFR gene, I am extremely pleased she was so committed to making natural health care choices.

Just how extensively you can change your lifestyle to avoid toxins can be directly influenced by how much money you have available. However if you search on the internet for cheap and natural alternatives to products you currently use that contain toxins, you'll get a lot of good ideas.

My daughter moved home to an area where there is an abundance of natural therapists and organic food providers, and no fluoride in the water so when she bathes and showers, she is not exposed to fluoride. Perhaps you might explore the option of adding a rainwater collection tank to your home to connect to your bathtub if you have fluoride in your water supply.

This type of major upheaval might not be an option for you. But please take whatever steps you can to avoid toxins and choose natural alternatives.

A natural alternative to many toxins

Here's one tip I think you'll find helpful ... Steam cleans everything.

A good steamer can clean kitchens, bathrooms, floors etc. With various attachments, it can be used to clean your bathtub and your shower screen. It can clean slate, tile, lino and wooden floors.

Carpets should be ripped up given the chance, especially if they are new, but some products also steam-clean carpets.

An effective steamer can be used in your kitchen to clean your stove and your oven and even the bottom of your pans.

Plus, instead of using chemical toxins to spray weeds between the pavers in your backyard, they can be blasted with steam from the steamer. If you look around, you're bound to find an affordable steamer with multiple uses. Certainly worth considering.

One thing to be conscious of, however, is the implications if your water is fluoridated. In trying to avoid toxins, you might be further exposing yourself. Fluoride is a toxin and has been linked to autism.

Plus, as you'll learn in the following video, fluoride can dramatically increase your body's retention of heavy metals.

So if you can, use rainwater or bottled pure water when steaming ... or get someone whose MTHFR gene is not compromised to do the work for you.

Another HUGE problem if you have MTHFR issues

5. Avoid Heavy Metals

A defective MTHFR gene can't cope with heavy metals like lead, aluminium and zinc. You probably think you're never or rarely exposed to any heavy metals ... but read on!

  • Did you know that aluminium was commonly used in deodorants? Have you considered the risk of absorbing aluminium through your underarms? Particularly if you shave your underarms.
  • Cadmium and lead are just two of the heavy metals contained in cigarettes. If you smoke, you are exposed to heavy metals. However even non-smokers are exposed to these toxins when around smokers.
  • Fish can contain heavy metals, so avoid eating fish you suspect may be contaminated.
  • Throw out any aluminium cookware. It leaches into your food.
  • Do you have amalgams filling cavities in your teeth? If they are metal, have them removed and replaced.
  • These days most house paints are water-based, or oil-based. Older paints, however, are likely to be lead-based. If you are exposed to old house paint, or antique painted furniture, you could be absorbing lead. Scraping old paint during renovations can be particularly hazardous.
  • There have also been relatively recent warnings that some new products made in China, including some children's toys, are painted with lead paint.
  • Have you had any vaccinations at all? Like it or not, many vaccinations contain some level of heavy metals. So yes, that might explain why you feel your deteriorating health is linked to the time of a vaccination. Or it might be linked, even if you hadn't thought of it.
  • Don't drink fluoridated water!!

Other Things to be Aware of if you have a Defective MTHFR Gene

  • Your body can't eliminate toxins, so you need to avoid them. Stay away from household chemicals such as chemical-based cleaning products, pesticides etc.
  • You really should discuss your defective MTHFR gene with your doctor, surgeon and anaesthetist long before having surgery. Anesthetics can have detrimental effects.
  • Dentists and orthodontists should also be told so you can avoid nitrous oxide (also known as laughing gas.)

6. Join online MTHFR forums and communities

People have been talking about MTHFR for years - as you'll see when you start visiting MTHFR forums. Communities share information and experiences, seeking answers to their questions, and solutions to their medical problems. But those online communities are very small. As more people learn about MTHFR and have their own genetic testing, memberships and activity are sure to increase.

A great deal of help and support is available at and I suggest it is a site we should all visit. It currently has 18,000 members receiving information from the doctor there. A drop in the ocean when you look at statistics for chronic medical illnesses.

7. Drugs to avoid if you have a defective MTHFR gene

According to Dr. Ben Lynch, the leading authority on MTHFR, these are some of the drugs to avoid if you have an MTHFR mutation:

  • Antacids
  • Antibiotic Trimethoprim
  • Antimalarials JPC-2056
  • Bactrim
  • Carbamazepine
  • Cholestyramine
  • Colestipol
  • Cyclosporin A
  • Ethanol
  • Metformin
  • Methotrexate
  • Niacin
  • Nitrous Oxide
  • Oral Contraceptives
  • Phenytoin
  • Proguanil
  • Pyrimethamine
  • Sulfasalazine
  • Theophylline
  • Triamterene

Please note: This is a list of drugs that one expert in the field says should be avoided by anyone with MTHFR mutations. If a drug you are currently prescribed is on that list - or if you are taking another drug you suspect is having adverse effects - talk to your doctor!

Any decision to cease or change medication should be made in consultation with a professional medical practitioner (who is aware of medical research associated with MTHFR) and can discuss the implications of such a change.

8. Choose natural remedies whenever possible

I can't help but wonder, why is it that since pharmaceuticals became the instant go-to in medicine, we either have a lot more people with MTHFR mutations ... or a lot more illnesses associated with those mutations?

Perhaps herbal remedies and natural therapies used in the past avoided exacerbating the symptoms of MTHFR mutations.

My homozygous result for 677 indicates I received one mutation from my mother, and a second mutation from my father. They were both born in the 1920s. Both are now dead, so I have no chance to have full genetic testing done for them.

But if their generation had faulty MTHFR (and other) genes, why didn't they also have the same level of chronic illness when they were young? Why do today's children show symptoms that were not evident in the 1920s, 30s, 40s, 50s, 60s or 70s?

And, I have to wonder, why am I - with my double mutation - so healthy, compared to many of my peers?

Could it have something to do with my choice to live off the grid, growing and eating organic vegetables, using home-grown medicinal herbs and natural remedies to treat any ills, and avoiding many of the environmental toxins most other people are exposed to?

Have I, more through good luck than good management, managed to supplement my need for folate by eating home-grown organic greens - and avoided many of the complications I'd have likely encountered had I continued living my previous city life?

I understand that most people will never choose the rural lifestyle I embrace, but I urge everyone to choose natural remedies for common ailments whenever possible.

Natural sources of folate

Make your own easy to prepare, high folate drinks.

Make your own easy to prepare, high folate drinks.

9. Make an effort to reduce chronic illness

It is estimated that approximately 50% of the population (in countries like the USA, the UK and Australia) has at least one MTHFR mutation. Of course the rate may be even higher, given that so few people have had genetic testing.

Unless we change the way we treat our bodies in daily life, ongoing chronic health statistics are destined to continue climbing.

You just have to look at the statistics associated with each of the chronic medical conditions where a faulty MTHFR gene is implicated, to see that reducing chronic illness requires a better understanding of MTHFR.

I sincerely hope you will join me in raising the profile of this vital gene, and learning more about epigenetics and the role of genes in our general health.

So what can you do?

Mention MTHFR to friends and family

Tell your friends and family about MTHFR and the advantages of genetic testing.

Take the time to explain to your friends and family what you know about MTHFR and genetic testing, and recommend the online websites and forums you've found most helpful.

I suspect word-of-mouth health recommendations helped keep previous generations (who presumably also had mthfr mutations) a lot healthier than people today - given the statistics of our current health crisis.

One example that springs to mind from my childhood is my mother asking an older friend for a remedy to settle my stomach when I was vomiting violently. The wise old woman suggested my mother give me a small drink of 'flat' Coca-Cola immediately after I next vomited. She said it would put a lining on my stomach.

It was the first and only time I was allowed to drink Coca-Cola as a child. And it worked. No doubt the recipe has changed since then, but her word-of-mouth recommendation solved my problem.

During my adult years, I have shared many hints for natural remedies with others ... and have welcomed advice in return.

We need to help our friends and family, so please raise the subject of MTHFR within your own circle. Gene testing holds a key to many chronic medical conditions, so mention genetic testing to the chronically ill.

Alert your Local Media about MTHFR

Contact your local media outlets and ask them to report on MTHFR issues in the interests of your local community.

The power of the media cannot be underestimated. The more the media talks about the advantages to individuals - and health systems, and national economies - of adapting government-controlled policies to accommodate the medical implications of faulty MTHFR and other genes, the greater the likelihood that real change can be achieved.

Don't expect journalists to know what they're looking for without providing any clues. Did you understand the issues before you read this page?

Journalists aren't psychic. Most journalists will be unaware of MTHFR, so you need to point them in the direction of an overview like this one.

Contact your Government Representatives

Make direct contact with your government representatives. Educate them about MTHFR and alert them to the dangers found in your environment, your foods, your water supply etc.

For instance,

  • Insist they remove fluoride from your water, and
  • Remove artificial folic acid from your foods.
  • Insist they stop widely vaccinating people because toxins in vaccines can cause complications in children (and adults) with compromised MTHFR.
  • Demand all children have full genetic testing before vaccines are administered, and
  • Highlight the need for research funding into the implications of faulty MTHFR (and other) genes.

Let's not forget that traditional, natural remedies can be used to achieve many of the results claimed by drug companies. We need to know why governments are so quick to endorse pharmaceutical products, in preference to natural alternatives.

I have never been an anti-vaccination protester. All my kids received their childhood vaccinations, and those that are now adults have continued to participate in recommended immunization/vaccination programs.

But I can't help but wonder,

  • At what point did our genes become rampant with mutations?
  • Just how extensive are MTHFR gene mutations ... and the other common mutations found in other genes?
  • Could there be a link between the introduction of widespread vaccines and the mutations that now are contributing to epidemics of chronic illness?

Governments need to prove to us (and themselves) that their current protocol of recommending drugs for all illnesses are justified and helpful.

Because if they are unintentionally responsible for the alarming statistics in chronic illness - and the predicted possibility of health costs ultimately bankrupting their governments - they need to stop repeating the same mistakes.

Governments need to step back from their current health protocols and assess what the real outcomes have been. And, if they discover they have contributed to creating the current health crises they are struggling to cope with, they need to fix things. Quickly!

Draw the Attention of Chronic Illness Associations to MTHFR

If you belong to associations whose role is to support people with a particular type of chronic illness, insist they start exploring the implications of MTHFR gene mutations.

Instead of funding more pharmaceutical trials, surely they should be seeking greater understanding of the issues I've outlined here.

Of course the implications of genetic testing and the possibility of improved outcomes extend much further than just the MTHFR gene, but this is the first gene to investigate.

With an understanding of methylation, relevant to MTHFR, it is easier to see how other genes involved in methylation can also contribute to symptoms of chronic illness.

And, once the implications of compromised methylation become clear, it seems logical (and essential) to begin examining the specific roles of any gene in our bodies that is mutated.

Any association offering advice to sufferers should actively explore epigenetics. It disappoints me that research from the past 20 years has been ignored (or has not been drawn to their attention.)

Let's change that!

Example: Fibromyalgia and MTHFR

The US currently has an estimated 40 million people suffering fibromyalgia.

If 50% of them have a faulty MTHFR gene, that's 20 million people who can potentially be helped!

Even if the gene mutations are found in only 25% of America's fibromyalgia sufferers, that's still 10 million.

So ... if 10 to 20 million fibromyalgia sufferers in the US (not counting the rest of the world) can potentially find relief and gain improved quality of life by making lifestyle and environmental changes to accommodate their faulty genes, why aren't all fibromyalgia sufferers being offered genetic testing and appropriate advice - instead of being prescribed:

  • antidepressants
  • anticonvulsants
  • narcolepsy drugs
  • medications for pain relief
  • pharmaceuticals to address constipation, and
  • other drugs to aid sleep?

How many fibromyalgia sufferers are actually aware of MTHFR?

Are Pharmaceutical Products Contributing to Mutations in Human Genes?

We need to know if pharmaceutical products are contributing to mutations in human genes!

  • I reject any argument that simply insists there is no evidence to prove drugs currently used to treat chronic illness cause gene mutations. (There is certainly growing evidence to indicate they can exacerbate many symptoms.)
  • I reject any argument that claims there is no evidence to prove childhood vaccinations, immunizations etc, cause gene mutations. (I don't believe appropriate studies have yet been undertaken.)

We just have to look at the history of mutations resulting from using pharmaceuticals to know there is a very real possibility that pharmaceutical products are contributing to mutations in human genes ...

  • We were assured for decades that antibiotics were safe and wonderful ... until it was eventually revealed that widespread use of antibiotics contributed to mutations resulting in SuperBugs.

Research Funding for Chronic Medical Conditions

Why are we wasting money on research efforts to find drugs to 'cure' conditions that are literally 'incurable' with drugs?

It has already been proven ...

  • Toxic chemicals can exacerbate symptoms associated with gene mutations.
  • Many symptoms associated with gene mutations are 'identical' to symptoms currently associated with chronic illnesses.
  • Pharmaceutical companies use toxic chemicals in many of their products.

So, can anyone reasonably expect a pharmaceutical product to ever cure a chronic illness associated with a gene mutation?

Example: Multiple Sclerosis

Research funding would be better spent (in my opinion) on further research into the specifics of how genetic anomalies are linked to what are now termed particular 'conditions'.

  • For instance, what benefit do Multiple Sclerosis patients receive if they are taken off medications and actively helped to (naturally) compensate for their ineffective MTHFR enzyme?

There are so many questions screaming out to be answered. Here's just some of them ...

  • How common is MTHFR gene mutation among MS patients? Which specific mutations? (To really establish that, all existing MS patients would ideally be tested - or provide the results from their own genetic testing.)
  • In patients who do not have MTHFR mutations, do their bodies effectively process folate? If not, why not? Are other genetic defects responsible?
  • What is the full list of environmental factors and pollutants that contribute to MS symptoms? (Medical researchers should start a list ... and add to it.)
  • Which of those environmental factors are most influential?
  • For instance, is it possible to fully restore your health if you receive appropriate folate supplements (NOT folic acid currently used) ... but still drink and / or bathe in fluoridated water?
  • Or is it 'vital' to give sufferers access to unfluoridated water?
  • What effects do traces of Monsanto's various products have on MS symptoms? (This is just one example of a company, and one example of a chronic illness.)
  • Conduct tests that compare the difference between diets featuring supermarket-bought fresh foods ... and organically grown fresh foods ... and fresh foods washed in specially filtered water (capable of removing contaminants) before eating or cooking.
  • Conduct the same type of dietary tests when fluoridated tap water is used a) for food preparation and b) in all aspects of daily life.
  • Run real tests to establish the real effect of electro-magnetic radiation on MS symptoms. I want to know if people who experience significant improvement when they address major issues associated with MTHFR and other genetic defects can have even greater improvement if they are no longer exposed to electricity transformer boxes (on the roadside outside their homes) or simply turn off all their electric appliances at night.
  • And then I'd like to know if there's a measurable difference between living in close city-dwellings (where a neighbor's electro-magnetic fields may impact an individual's health) ... and living in a rural setting where there's less influence from nearby activities.

    Obviously this would not be one of the earliest research activities. But if other issues are successfully addressed by MS patients, it makes sense to look at fine-tuning.

    Why? So that we can equip our future generations with the information they need to protect themselves from developing MS. At the first hint of symptoms, they'd have options to consider.
  • What are the implications of low Vitamin D? Is it a widespread problem among MS patients? Why? Do Vitamin D supplements currently available help, or hinder, recovery? (In association with other steps including compensating for MTHFR defects.)
  • Test - and tell us - what are the most effective ways of consuming folate-rich foods?

    What's the difference if we ...

    • steam them (with and without fluoride)
    • fry them (with and without different types of oil)
    • eat them raw
    • juice them (losing their fibre)
    • put them for 20 seconds in a Nutri-bullet (and does it make a difference how quickly we consume the drink?)
    • if the nutrients in a specific folate-rich food are water-soluble, how important is it to drink water at the same time as eating them?
    • to best access the nutrients, does it require we eat some kind of fat at the same time? So for instance, would eating nuts or slices of avocado in the same meal help?

    It is this type of helpful research I believe MS organizations should be funding, conducting and sharing with sufferers.

  • Test genetically modified foods ... and warn us of any dangers.

In this day and age, any organization whose focus remains on pharmaceutical products should be questioned and challenged.

Drug companies have had many years to prove their worth and efficacy. The results speak for themselves. We live in an extremely unhealthy world.

Surely it is time to conduct tests and research relating to specific foods and environmental toxins - instead of encouraging companies to come up with ways to patent health-giving qualities within those foods, and subjecting us all to further toxins.

10. Detoxify Gently

If you receive test results confirming you have a mutation in your MTHFR gene, shift your focus to learning everything you need to know to help your body cope.

One of your key goals should be to help your body gently detoxify because if you are unable to effectively methylate, you are accumulating toxic load.

Remember, however, MTHFR mutations make the process of detoxing very different to how others can detox. There is risk associated with trying to achieve a sudden toxic dump.

Avoid the temptation to blindly follow the first advice you happen to find on the internet (particularly when it comes to detoxing.) Anyone can write with apparent authority on the internet … that doesn't mean they know what they're talking about.

Do your own research and learn everything you can about the medical implications of the MTHFR gene – and be committed to avoiding everything that can exacerbate your vulnerability to further medical issues.

More clues to help you understand MTHFR issues

This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.

© 2021 LongTimeMother


anonymous on May 11, 2021:

Hi FlourishAnyway. I actually wrote this article in 2015 but didn’t publish it back then because there was a culture of considering anything ‘different’ as quackery. But the world seems to be catching up, and even mainstream media (and medicine) openly acknowledges what I wrote about here ... so I published it at last.

It is now over 5 years since my daughter had an MS episode, despite the severity of her early episodes. No drugs, just accommodating the needs of her body based on understanding epigenetics and gut health. Best wishes to you.

LongTimeMother (author) from Australia on May 11, 2021:

I hope this article helps, Nithya. Chronic illness causes so much disruption in our daily lives.

LongTimeMother (author) from Australia on May 11, 2021:

It makes a huge difference when you have an understanding of what to look for, Ann. Best wishes to your granddaughter.

FlourishAnyway from USA on February 28, 2021:

What excellent information and I'm glad you found answers for your daughter! I plan to do additional research thanks to you. It certainly isn't covered here in the US but if I need it I will find a way.

Nithya Venkat from Dubai on February 28, 2021:

Thank you for sharing intricate details if genetic testing linked with chronic illness. Did not know about this, thank you for sharing.

Ann Carr from SW England on February 26, 2021:

Wow! This is an amazing article with so much detail that I need to re-read a few times. I have a granddaughter with Crohn's so I'm going to pass this on to her in the hope that it might make some difference. She is managing it at the moment, with medical advice, but it's not stable and she stresses quite a bit. At just 20, she deserves a life with less worry on that score. I'll pass it on to her mother too, so that she has the same information and understands.

Thank you for sharing this; it could make a huge difference.


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