I owe a lot to my pregnancy, it revealed the final missing piece in my perennial search for answers to questions about my health and for that I am eternally grateful. I should be even more grateful, though, to Jessica, a lady in Florida who told me about the gene mutation, MTHFR.

If you are pregnant, a parent, planning on having children or have stomach issues, allergies, autoimmune or other ‘unexplained’ health problems that continually persist, despite your best efforts, I urge you to read on, despite the length of this post. It has taken me thirty-one years to figure out what I am about to tell you, and it has changed not just my life for the better, but that of my unborn baby, too.

I came across this invaluable information during my own quest for remission of Juvenile Rheumatoid Arthritis, which I was diagnosed with when I was two. Thankfully, through my own stubbornness and determination to not spend my life being disabled, I finally conquered the disease for good, through diet, a range of complementary therapies including homeopathy, naturopathy and kinesiology, and an extensive understanding about the human body, despite never having ‘actually’ studied, and I have been in remission for two years.

In order to understand fully what MTHFR entails, it means being able to understand complex biochemistry, which I’m assuming, like me, most people reading this will not be overly familiar with. So I will explain it in simple terms;

What Is MTHFR?
The MTHFR mutation inhibits the body’s ability to methylate, or convert folic acid into Methylfolate. Methylfolate is the active and usable form of folic acid – which is why it is more sensible to take it in the form of Methylfolate in the first place, especially if you are pregnant, as opposed to taking the synthetic version of folic acid. The body also finds it hard to process vitamin B12 and other vitamins, and instead, the liver converts them into toxins.

The body is constantly taking in toxins, but the liver of a healthy person will be able to detoxify and release these toxins. When you have MTHFR, the toxins get trapped and will continue to build up over the years, causing a slew of different illnesses. This suppression of toxins could show itself in any way from persistent headaches or migraines, unexplained allergies, autoimmune issues, low immunity, gastrointestinal problems (which, after every test under the sun would probably have been labelled as IBS), Fibromyalgia, Chronic Fatigue Syndrome, deficiencies, hormone problems and a myriad other ailments.

You can have the Homozygous gene or the Heterozygous gene. Homozygous is the worst one; it means your body converts 70% of these nutrients into toxins. Luckily for me, I have the heterozygous gene, which means that my body processes 30% into toxins and before I explain what this means for me and my baby, I’ll explain first how I found this out.

Research
This lady in Florida, Jessica, is the mother of a little girl with juvenile rheumatoid arthritis whom I have been in touch with for a few years. She also decided to go down the complementary medicine route and thankfully, like me, her little girl is now doing really well. Jessica found out that she had the MTHFR gene mutation, and, unfortunately for her, she had the worst kind. She realised that this gene mutation in her was probably the reason why her daughter got autoimmune arthritis. For years she urged me to have the blood test but I kept putting it off because there was always something else to contend with.

But then I had to have IVF. When I (thankfully) got pregnant, I noticed that the blood form at my IVF clinic had an option to test for MTHFR. I had to pay extra for it, but I decided it was the perfect opportunity to have the test. Ten days later it came back positive. Now, had I not have spoken to Jessica, I would never have known what MTHFR was and I would have totally overlooked it on the sheet of paper. More than that, not one doctor in all my life had ever advised me to have the test.

Bad Advice
My doctor, who told me that the test was positive, prescribed folic acid in very high doses. ‘If you have MTHFR’, she said, ‘your body doesn’t absorb as much folic acid so you need more.’ This was their understanding and the extent of their understanding of the gene mutation ended there.

My history of illness and subsequent self-acquired remission of course encouraged me to look elsewhere and get information from a more reliable source and not simply walk out of the clinic accepting that ‘the doctor must know everything and I don’t need to think about this anymore’. Doctors, we must remember, are humans, just like us, and despite their panoply of knowledge and accomplishments, they can’t possibly specialise in everything so we cannot and must not assume that they can know the answers to every last medical problem. We have a responsibility to ourselves and must take responsibility for our own bodies. (If we all did this, we would help relieve pressure on the NHS drastically, but this is another story altogether.) I was in early stages of pregnancy, it was my first baby, I was worried and determined to understand everything I needed to about what this meant for me and my baby. I spoke to Jessica and she led me to the website of Dr Ben Lynch, the primary resource for everything MTHFR-related. He is based in the States but recommends specialists for MTHFR all over the world. It turns out there were only three in the UK and only one in London. I got in touch with him and had two phone consultations and, between him, Dr Lynch, Jessica and other research I did, this is what I learnt…

What It Means For My Baby
My body cannot absorb many nutrients, but two of the most important ones (for right now anyway) are folic acid and vitamin B12. That being said, ‘folic acid’ in the way we know it, is synthetic. It is folate we need, and in higher quantities when we are pregnant in order for the baby to develop.

Folate is found in plenty of foods but we don’t eat enough of those foods anymore so ‘folic acid’ was created. My body cannot absorb this synthetic form of it. Not only can it not absorb it, but my liver turns it toxic, leaving me feeling ill (and probably never knowing why) and meaning that my baby is not receiving crucial nutrients at a critical time. In order for my body to be able to absorb folate properly and process it in a way that it gets fed through to the baby, it needs to be in the form of Methylfolate, the primary biologically active form of folic acid used at the cellular level for DNA reproduction.

Because I had done a lot of research prior to falling pregnant, I already knew that Methylfolate was the healthier way of taking folic acid (even though I knew nothing about methylation at the time), so luckily for me, my prenatal supplement was already in the form of Methylfolate and my B12 was in the form of Methylcobalamin. I learned about the B12 side of things when my arthritis pain got so bad that it started affecting the nerves. Once I made the decision to heal myself, I did research into B12 and realised my body wasn’t absorbing it properly but I never knew why, so I got Methylcobalamin, have been taking it ever since, and that pain went away almost instantly. Obviously I never fully understood why until now.

I was six weeks pregnant when I found this out so I was pretty lucky that I’d already been taking this prenatal supplement but the MTHFR specialist recommended a different brand and I have been on that ever since.

My obstetrician, just like the doctor who gave me the MTHFR blood results, knew nothing about MTHFR other than that it meant that I ‘needed higher doses of folic acid’. In my experience, doctors do not like to be told what they don’t know by their patients, but my lovely obstetrician listened, seemed shocked, and thanked me for passing on information that he didn’t know. He said it could help many women who came his way and that he was going to go off and do some research on it. (EDIT: 2.5 years later, he still has not done anything about it). He said that the MTHFR could leave my baby susceptible to miscarriage, a brain defect, and spina bifida. By the time I saw him I was ten weeks pregnant and at that scan he ruled out the brain defect but said that the other two were still possible and had to be ruled out at different stages, the last one at sixteen weeks.

I am now twenty-one weeks pregnant and have surmised that the reason that all these things have now (thank God) been ruled out, is because my body got the right nutrients it needed in the right forms. My baby was not susceptible to spina bifida because he received the folate he needed. The reason most women in my situation would still be at risk of that is because they would still be taking the synthetic folic acid without knowing that despite their best efforts of taking this, the baby was not receiving it and was therefore at risk of these awful conditions. (EDIT: My baby is now 21 months old and thank God healthy.)

Miscarriage
MTHFR is responsible for a HUGE number – though we don’t know how many – of miscarriages. If your OB tells you that there is no evidence linking these 2 things, it is because your OB is not educated on MTHFR. (Please have a look at the information by Dr Ben Lynch in the link embedded at the beginning of this paragraph.) This is a massive deal. We know that women are miscarrying because they have this gene mutation and don’t know about it or how to treat it, and doctors don’t know either. So if you are reading this and have had miscarriages for ‘unknown’ reasons, it could be that you have MTHFR. And let me tell you, with a little bit of research and lifestyle-tweaking, it really isn’t that hard to stop this being the cause of your miscarriages. What sort of relief would that be!

A study published on US National Library of Medicine and National Institute of Health stated that ‘We provide evidence to support the relationship between MTHFR C677T mutations and recurrent fetal loss.’

This study shows the clear link between MTHFR and recurrent miscarriage but simply advises anticoagulation meds as a possible solution as opposed to methylfolate and healthy lifestyle. Each of the 8 women in the study was found to be positive for MTHFR, 7 homozygous and 1 heterozygous, which concludes that heterozygous women need to be treated in the same was as homozygous. It shows a link between MTHFR and preeclampsia, intrauterine growth retardation, placental abruption and neural tube defects. Therefore this is not just about miscarriage but complications in pregnancy, too. Fertility clinics who have had successful pregnancies, along with GPs, midwives, OBs and GYNs should be testing all women for MTHFR and advising them against synthetic folic acid and prescribing a healthy, bioavailable source of methylfolate instead, and should be monitoring the pregnancy and advising on diet. Fertility clinics especially should be prescribing methylfolate as standard.

If your OB is one of those trying to convince you that there is no link between your miscarriages and MTHFR, it could be to do with the fact that some studies found no concrete link. However this is most likely to do with the fact that if someone has MTHFR, they need to be taking the right prenatal supplements during the study. If a study was run whereby it was documented which out of the women was taking methylfolate and methylcobalamin, coupled with a healthy lifestyle low in toxin exposure, and which women were continuing with synthetic folic acid and did not do anything to support the mutation, it is highly likely that we would see the link very quickly.

Missing Pieces
In terms of the missing pieces in my own life, the time of my diagnosis was when they all started fitting together: my mum must have this mutation or at least be a carrier for it, and because she didn’t know about it she took folic acid. She didn’t miscarry and I didn’t have spina bifida, but it severely affected my immune system, which, of course, was another thing she would not have known about when I was born. So, I already had low immunity (which was unknown at the time), and then I had the Measles / Rubella vaccine and immediately after that the swelling in my ankles appeared and a few months later (a month before my second birthday) I was diagnosed with Juvenile Rheumatoid (Idiopathic, as it was then known) Arthritis, which I subsequently had for the rest of my life. The vaccine was too strong and filled with too many toxins for an underdeveloped and very lacking immune system to handle so the susceptibility in that immune system just needed a trigger. Although I got myself into remission, it is only now that all the pieces fit together but I am so glad I know this. Not only does it confirm my belief that nothing is ‘idiopathic’ (no defined cause) and that everything has a root cause or a reason for happening, it also means I can now make sure that I give my baby the very best chance at staying healthy.

Summary
It is thought that an estimated 60% of the population have this gene mutation, but most don’t even know about it. 60%! That’s huge! So why isn’t it spoken about more? Why have we never heard of it? Why do doctors not know about it? And if they don’t know enough about it, why are they prescribing anything at all? Taking folic acid in its synthetic form is highly dangerous if you have MTHFR. We need to be aware of this but our healthcare professionals also need to be aware of it. How would the average person know to look out for it if the people we trust with our healthcare have no idea about it? Fertility doctors, obstetricians and midwifes especially need to be educated on this subject.

Knowledge is power and we must stop being complacent with ourselves and with our children and know that we are allowed to – and should! – research, that the doctors can’t know everything and that we need to figure stuff out for ourselves. If doctors don’t know much about MTHFR, how many other conditions are leading to our decline in health that they don’t know about?

If 60% of people have this gene mutation, you could be one of them, so I hope this article encourages you to get the test, if not for yourself then for your children. Imagine if this gene mutation is the reason behind so many of us having such a range of illnesses and ailments, all because our bodies can’t detoxify.

And even if you don’t have the test, perhaps you will take away from this the knowledge that there is a reason and a trigger for every illness or ailment and we can access that reason and fix it before it’s too late. If you are pregnant – or planning – and even if you don’t plan on getting the MTHFR test, consider taking folate in the form of Methylfolate instead of synthetic folic acid.

I hope that by writing this article, I can help some people avoid the unthinkable.

Love & health,
Lauren Vaknine

The prenatal supplement I take is called Optimal Prenatal by Seeking Health and can be purchased at www.functionalutritionsupplements.co.uk

For more information about MTHFR please visit Dr Ben Lynch’s website.

For more information about my story and subsequent remission, you can purchase my book, ‘My Enemy, My Friend’ on Amazon.