How do our genetics influence our fertility?
Rates of infertility are on the rise, with one in six couples experiencing infertility. In this episode naturopath Amie Skilton discusses the range of potential causes, what has the biggest impacts on fertility and reproduction, and how genetics might contribute to the growing issue of infertility.
Covered in this episode
[00:27] Welcoming Amie Skilton
[00:55] Why infertility seems to be on the rise
[03:17] Discussing the menstrual cycle
[09:02] The effect of chemicals on reproduction
[12:32] What has the biggest impact on fertility?
[17:48] Pre-conception health for women and men
[21:01] Pre-conception nutrition
[23:07] Genetics and fertility
[31:05] Investigating the underlying cause
[34:15] The impact of stress
[36:18] SNPs vs genetic mutations
[41:10] Trusting our instincts on fertility, health and the health of the baby
Mark: Hi, and welcome today to Amie Skilton who holds a Diploma in Botanical Medicine, Advanced Diploma in Naturopathy and a Bachelor of Health Sciences in Complementary Medicine. She's been in clinical practice for more than 16 years covering the whole gamut of integrative medicine, but her current focus is on women's health and hormones, natural fertility, and healthy pregnancies leading to healthy babies. Hi Amie, welcome to FXOmix.
Amie: Thanks for having me, Mark.
Mark: It's a pleasure as always. I'm going to get into something with you today, which I sometimes feel a bit ashamed of. In the medical profession, there's a whole kind of cowboy industry of fertility management or management of infertility at a very, very technological high-cost way and yet there seems an inability of my profession to ask the obvious, why is this happening and could we do better by doing something earlier?
Amie: Oh, great question.
Mark: So, you and Denise Furness have been on tour. You've been talking about this. What's the secret? Why, first of all, is infertility escalating in the way it appears to be, or is that just apparent? Has it always been there and we've just never noticed the infertility before?
Amie: Look, I do think what we're seeing reflected in the data is mostly indicative of really our lifestyle and current environmental quality. And so I think, you know, prior to the industrial revolution, of course, infertility problems have no doubt been around since the dawn of time because our ability to be fertile is dependent on so many factors coming together. But what we do know is in 2018, diet and lifestyle and chemical exposure amongst a plethora of other things are really impacting our ability to be healthy, which then impacts the ability of our body to produce healthy babies.
Mark: Right. So, health and fertility, it should be obvious, but health and fertility go together. You are more fertile when you're healthier, right?
Amie: Yes, absolutely. So, nature is always aiming for the optimal, and certainly our fertility is very much representative of our health and wellbeing and our cellular vitality, and this compensation really applies to everybody regardless of whether you're thinking about having a family or you've decided you're not going to have a family because whether or not you, ultimately, conceive a child and go on to have a family, your fertility is a direct reflection of how healthy and well you are. And as an extension of that, I guess, your menstrual cycle and your experience of that for women certainly is also a reflection of your health and wellbeing too.
Mark: Okay. So, let's talk about the menstrual cycle. We take a cursory history as doctors, we say, "Is it about 28 days? When did it start? Is it painful? Do you bleed heavily?" What more do we need to know about menstrual cycles apart from just almost the basics or the mathematics of it?
Amie: I think one of the key things is we've fallen into this trap of a normalising discomfort and pain and aberrant symptoms, and much like many of the health disorders we see today that fall into the chronic category because so many people experience issues, almost becomes normal and acceptable. So, I'm referring to things like period pain and PMS most specifically. It is, you know, a bit of a joke amongst women and men about mood swings prior to the onset of the period and certainly, with the sales of medication for menstrual pain, we know there are a lot of women suffering. But neither of these things are normal and are, in fact, red flags that are indicating some sort of aberration, dysfunction, or imbalance in the hormonal monthly darts, if you can call it that.
So, there's certainly that, and then when you get into the mechanics of it, and certainly the numbers also need to really line up. We have, I guess, a viewpoint currently, or certainly from what I've seen in my area of practice, that a period of anywhere between 25 and 35 days is considered normal, and actual fact, it's really not ideal. It's normal from the point of view that many women fall into that or the majority do, but what we're really aiming for is a 28-and-a-half-day cycle in line with the lunar cycle…
Aime: …of the earth and the planets, and we really want to be aiming for a follicular and luteal phase of equal measure. And so, we want to see ovulation occurring as close to day 14 as possible and certainly no earlier than day 12 or after day 17.
Mark: Right, so that rhythm is a lot tighter than we kind of give credit for in medicine. We will extend it out anywhere really from around about 21 to 35 days. We don't pay much attention when people say, “oh, catch up a little bit, it's different lengths, and as well the PMS is very heavy.” That's not even considered as a kind of medical condition until it reaches a certain threshold of almost mental health issues.
Amie: That's right.
Mark: You're saying there is much tighter constraints, and if we were to aim for those, we could make this a far more normal part of life without the aberrations, without the psychological changes, without the cravings. Is that possible?
Amie: Yes, it is absolutely possible. And really, it's a shame that they've become these things like cravings and the mood swings, the irritability, the bloating, the breast tenderness, the cramping and extreme pain. It's such a shame that those things have become normalised because it is such a widely experienced set of symptoms…
Amie: …because it then no longer becomes something that is A, a red flag, or B, is something that is indicative of an underlying issue that really needs some attention to really bring it into line with what it's supposed to be like.
Mark: Okay. Then give me a bit of a hint just as a practitioner because I've fallen into this trap. The fact is the menstrual cycle is so variable, infertility is so common, PMS is so common that we reset normal. I did in my kind of medical life, I just assumed, not being a female, that that was how biology kind of programmed the body. Where did it fall apart? Where did we start to move away from the tighter cycles, the more predictable ovulatory cycle, and into this acceptance of cravings and mood variability? Why did that happen? And do you have a cause or some contribution there?
Amie: Look, I've got a few thoughts on that, and I hate to say it.
Mark: You can say it to me, I'm a doctor.
Amie: We've got the patriarchy…
Amie: …as partly responsible in that medicine for a period of time was exclusively the male domain and in combination of sort of coming out of the dark ages where women were really feared/revered, and the menstrual cycle was not understood, and women were, I guess, persecuted in many ways, and the menstrual cycle also was demonised to some degree. We've also seen with the male-dominated medicine industry, much researchers tend to be all males, and there has been very little interest because there's no real personal interest as a male doctor, generally…
Amie: …and understanding or elucidating what constitutes a healthy menstrual cycle versus one that isn't. And so, it's just a really, really tragic side effect of several circumstances that have ended up, up where women, we're all in this boat where you just, you know...thankfully, the hysterical part has been dropped.
Mark: That was fun, where the uterus migrated around the body to different areas, including the head.
Mark: The concept of hysteria as a rampant uterus just wandering around the body parts. I think that maybe that's one of the more regrettable diagnoses in medicine.
Amie: I think so. I think so, which regrettably ended up in a lot of hysterectomies also. So, yeah, I think there are a lot of factors that contribute to that, and certainly, since World War II we've had an introduction of over 80,000 chemicals into our food, air and water, and so you know, even though medicine the landscape is shifting dramatically across many modalities, we also have got several generations of women now who are affected by exogenous xenooestrogens, and other compounds that affect liver metabolism…
Amie: …of oestrogens and hormones in general. And so all of a sudden we’re now looking at the landscape of women and taking data as to what the majority experience, and sadly, much like blood sugar levels and cholesterol levels, we tweak these things to sort of capture the majority, and then it’s only the outliers that are really considered to be experienced…
Amie: Yeah, exactly. Exactly.
Mark: You know, my sort of background has always been in those, the organic chlorines and those different types of chemicals that we always thought were just poisons, but it was affecting health in a very different way, binding to oestrogen receptors, binding to, you know, cortisol receptors, thyroid receptors. Many of the chemicals that we put into our world without testing are, in fact, hormonal mimics or hormonal antagonists or agonists. And we have an experiment of basically 100 years of using those chemicals with the major effect being on females, not males, or as far as we knew, the sperm count drop may well be our, the price we pay for not noticing, but I think it's largely been experienced by women rather than men.
Amie: Certainly given the widespread distribution of oestrogen receptors, women are going to be undoubtedly, I guess, the canaries in the mineshaft, if you want to call it that in terms of xenoestrogens certainly before men, particularly because both in men and women, androgens must also be converted into oestrogen for elimination, and androgen levels go up with certain dietary factors and stress. So, in a stressed woman who's consuming a high-glycemic diet that contains dairy, you know, you've just got a recipe for excess androgens and an incredibly extreme level of oestrogen as well.
Mark: Is that critical to what we're seeing with the fertility issues or the menstrual cycle issues or both?
Amie: Both. Both, and sperm count, absolutely.
Amie: With regards to the hormonal imbalances that are seen, whilst there are disorders where we see insufficient oestrogen in relationship to progesterone, those ones are heavily outnumbered by the reverse, that is, either an obtuse excess of oestrogen or simply excess oestrogen in relationship to progesterone levels. And so, oestrogen being proliferative and pro-inflammatory, this is one of the hypotheses is that autoimmune disease is more prevalent in women because of the effects of oestrogen.
Mark: We then come all the way onto menopause further down the line where the oestrogen drops and has its own set of problems, and I suppose that's not what you need to cover with fertility.
Can you give us all a bit of a sense, if you had a magic wand and you were able to change something, whether that's dietary, environmental, where would you put the effort to solve the problems of infertility and menstrual cycle irregularity? Where's the effort point?
Amie: Gosh, it would be very difficult to pinpoint just one, but if I could keep it to a few...
Mark: Yeah, a few is good.
Amie: I think the number one issues, to be honest, is the women's ability to say no and to manage stress well.
Amie: And I think Dr Lara Briden puts it best when she says, "A woman's period is her monthly report card," and the, I guess the experience of each period really represents the health of the last 28-and-a-half days. And there are so many, obviously, social conditioning things that go in here as well as, you know, many of us aren't raised with good stress management tools, but certainly, just looking at the pregnenolone steal alone, we know that stress will rob the body's pregnenolone substrate for cortisol production, leaving insufficient amounts for progesterone production.
Amie: And so, even in a woman with appropriate oestrogen levels, without the influence of, say, exogenous xenoestrogens, its already going to then experience the impact of excess oestrogen because it is not being opposed by its partner, progesterone.
Amie: So, I think good boundaries and good stress management and sufficient rest are probably the number one thing on that list. That would be, I guess this diet and also personal care products or exposure to chemicals and xenoestrogens would almost have to be of equal importance.
As a woman, we use on average around 280 chemicals and personal care products every single day, and we know that many of these chemicals and xenoestrogens and other endocrine disruptors are lipophilic and therefore are absorbed very well through the skin, not to mention the things we might breathe in as we're spraying them on ourselves. And so, we are literally poisoning ourselves slowly but surely and impacting our hormones with the very things we moisturise ourselves with and exfoliate ourselves with and deodorise with and the makeup that we use. And so, that has to be changed…
Amie: …and can also be extended out to, say, the cleaning products we use in our home as well are certainly another large source, although probably not quite as large as personal care.
And then, of course, diet. We have the food industry is just an absolute mess, and some of the practices and products that are used in and on our food are just astonishing, almost unbelievable when you think about the impact that they would have on a human consuming them. And so, whist I understand eating completely organic is probably out of reach for many people, certainly prioritising animal products and highly sprayed produce would be a really good start to helping to reduce the load. And that is, of course, I'm assuming that someone has already made the leap to reducing their junk food, and alcohol, and sugar intake, you know, fairly substantially.
Mark: You probably know this group, the Environment Working Group in the USA, ewg.org. They have been on this for years trying to inform the public of what is in the foods, what is in the personal care products, what is in the cleaning products, and for decades it seemed like they were running into deaf ears. Now, there is an uptake, and I have a suspicion a bit of that uptake is a new generation of women being made aware that there are environmental factors that they never thought they could control or do anything about. Now, finding out that their choices are really, really important. Food, personal care, environment, where you live, those sectors seem to be really critical to fertility and health.
Amie: They are. And I think what frustrates me the most about the fertility industry, if I can call it that, speaking more about, you know, the technology…
Amie: …the technological interventions, the very things that drive fertility and the ability to fall pregnant also influence the health of the pregnancy, the health of the baby, and in fact, the health of that child for the rest of its life.
Amie: And so, whilst I would never say don't do IVF, obviously it's a gift for many women, it would be remiss of me not to say it's foolish not to do the work anyway…
Amie: …even if you're going to go down that route.
Mark: And a half a trimester before you fall pregnant, half a trimester on the other side. That's the vulnerable period for mother and baby. And assuming that there's breastfeeding, we still have to be cognisant that some of the pollutants do accumulate in breast milk. It's still the best thing to do, but it is a tragedy of our ages that we do not have pure food and a pure pregnancy for a baby to emerge from.
Amie: Yes, it is awful because everything that the mother is exposed to will cross the placenta, and we know that cord blood sampling has revealed 290 different chemicals. And then yes, of course, breastfeeding is the ideal nutrition if a woman is able to do that, but of course, lowering the toxic load is something that is an ongoing journey, certainly for the mother. And you mentioned also the preconception period. The health of a sperm or an egg is determined in the 120 days prior to conception.
Amie: And so there are factors there that also play into it. And particularly for men, I know we're talking mostly about women today, but foetal alcohol syndrome can actually be traced back to alcohol consumption in the father up to four months prior to conception.
Amie: So, there's a lot that goes into creating a healthy baby. It's actually a wonder that anybody falls pregnant these days.
Mark: I know, but if it were not true, we wouldn't be talking here today…
Mark: …so I suppose we have to live with that. The so-called truth of the past was the male in the six months before conception is where the focus should be for clean, healthy life, and because the egg was in a metaphase and therefore not very biologically active, the only thing to worry about for the woman was really that they didn't have X-radiation, that they didn't break chromosomes. And I think the truth is now a far from that, that there is a lot about fertility for male and female, that if you don't pay attention before fertilisation, you've got a problem, either infertility or poor pregnancy outcomes.
Amie: Yes, that's right. Well, the health of the sperm determines the health of the placenta, and therefore the longevity of the pregnancy and the wellbeing of the pregnancy. So, for men, I think men are often really neglected a bit in this equation, which is a real shame because they really are 50% of not only the conception but the health of the pregnancy as well. But much of this is for both parties is determined by good nutrition…
Amie: …and, you know, that will affect sperm motility, morphology, sperm count, as well as the health of the ovum, as well as the ability of the woman's body to produce all the right hormones at the right time to allow conception to occur and for pregnancy to be maintained. And, you know, it's really simple, I think it just gets horribly overlooked because it feels like it's just too simple to be that relevant or that powerful.
Mark: Yes. Well, in reproduction, things that are simple actually work very well over many thousands of generations, so simplicity has its own reward there. When you talked about the nutrition, what are we talking about? Is there a standardised diet? Is this personalised nutrition? What is the nutritional intervention or advice that would optimise the likelihood of conception in a successful pregnancy and a healthy baby?
Amie: Well, certainly there is some general guidelines that most naturopaths and clinical nutritionists would be very familiar with, so when you're looking at someone's macronutrient ratio, you're aiming for roughly 30-40-30 protein, carbs, and fat, and that is to allow for not only adequate levels of each of those macronutrients but also low GI and blood sugar control and insulin control. Obviously, the quality of those macronutrients really matters, and particularly is when it pertains to fats, we want to see, you know, a rich portion of that being essential fatty acids, especially EPA and DHA from fish…
Amie: …and, of course, reducing or eliminating alcohol, reducing caffeine, and eliminating sugar where you can are really some of the basics that people can get into. In addition to that, knowing what we know about nutrient depletion in the soils, I would be ensuring, certainly, with my clients that both of them would be on a good quality multivitamin and a fish oil. And in the case of, you know, drilling down to more personalised recommendations for if there's occupational exposure to radiation, say, for flight attendants and pilots or someone who is a painter or a builder or working with chemicals, looking at antioxidants are going to be key in supporting detoxification.
Amie: And then, of course, everybody is an individual, so you got to work with their preferences, their possible food intolerances, and making sure they're getting enough of the micronutrients.
But beyond that, there is, I guess, a new level of personalisation that we're able to offer now, where we can get insight into how someone's genetics are impacting their ability to have healthy hormones or even down to things like activating nutrients that the body can actually use them. So, most famously, we can talk about, I guess, folic acid and MTHFR.
Amie: And folic acid or perhaps folate, more accurately, is known to be a critical nutrient for neural tube development and, of course, is associated with neural tube defects. And that's probably the most well-known regardless of what type of medical professional you're talking with. Of course, if there's a mutation or a genetic polymorphism with the MTHFR gene, depending on where that polymorphism sits, it can have a minor through to major impact of the ability to convert folate into its active form in order to produce really a lot of functions in the body, some of which don't relate to fertility. But this is where you can get even more specific with supplementation to overcome when somebody's genes may not be really playing the best game they can imagine.
Mark: Okay. So knowing the type of, say, MTHFR mutation, for an example, allows you to select something or give advice on diet for, say, methylated folate as opposed to folic acid.
Mark: Do you give specific advice based on those genetics in your work?
Amie: Yes, absolutely. It is something that is relatively new that I've only been using quite recently. And certainly, some of those polymorphisms like MTHFR have been easy to test for quite some time, but we now have a much wider array of genetic SNPs where we can identify other elements that play into the body's ability to have a healthy baby or even just healthy hormones. So, MTHFR is, obviously, an obvious one for people to consider…
Mark: Yes, and relatively easy to understand compared to the whole cascade of other SNPs.
Amie: Yes. yes, absolutely. And we know, of course, that's because of the importance of that folate or the activated form playing into neural tube development. But we also know that B12 deficiency is an equal risk factor…
Amie: …for neural tube defects, and we can now test for mutations with the MTR gene, which codes for methionine synthase, and this is actually important, particularly when you look at it, I guess, making and the providing methyl groups that are important to convert B12 into methyl B12.
Amie: And so, it begins to widen the net, so to speak, where we can intervene and support somebody's ability or their body's ability to have a healthy baby. And, you know, those two, I guess, are two examples of where B vitamins might be impacted.
But to give you another example, there is a gene BCON-1 which codes for an enzyme called beta carotene monooxygenase. Now, this is an enzyme that converts beta carotene into the active form of A, so retinal and then into retinol or retinoic acid. And we know that beta carotene transformation into vitamin A isn't great at the best of times.
Amie: It's around 1.5% based on the literature that I could find. But when you consider that someone might have a SNP in this particular gene, you see that conversion drop even further. Now, we know that vitamin A is critical for the eyesight and brain development of a developing child, but further to that, we know that the receptors for thyroid hormone are retinoid x receptors and therefore require vitamin A in order to be responsive to thyroid hormone. So, what this means is someone might have normal thyroid blood tests or normal-looking blood, but be presenting as an underactive thyroid…
Amie: …or are having hypothyroid symptoms. And where this can become problematic over time as we see TRH go up to try and stimulate TSH. Now, TRH is not usually ordered in a thyroid panel.
Mark: You're right.
Amie: And so, you might still see TSH, and T3, and T4, and even reverse T3 looking okay, but if TRH is raised, it's doing that in order to drive thyroid-stimulating hormone up. But it also has the effect of driving prolactin levels up. Now, prolactin is really meant to be secreted in response to a suckling baby during breastfeeding and as a postpartum hormone. Now, when the mother's nutritional resources, as well as emotional and energetic resources, are being taxed by a brand new baby, the body in its wisdom has built-in this mechanism to dial down fertility, and high prolactin levels tend to suppress GnRH and therefore FSH or follicle-stimulating hormone, which then, of course, flows onto low progesterone levels ultimately.
Now, if someone is...obviously, I'm drawing a very long connect-the-dot picture here, but if someone has a SNP in BCON-1 and they aren't producing sufficient levels of vitamin A for their receptors to respond to thyroid hormone, the brain or the pituitary and the hypothalamus can then begin to interfere by accidentally turning up TRH, which then turns down fertility.
Amie: So, there are opportunities everywhere for us to really personalise and improve someone's nutritional status by identifying where genetic polymorphisms might be getting in the way of optimal levels in spite of a good diet, and in spite of even supplementation sometimes.
Mark: Which raises, of course, the complexity. Just one short story. Back in the day, we used to call it beta cleavase. We didn't have quite the name of the enzyme, but the cleaving of the beta carotene into vitamin A. We have plenty of patients who turn up vitamin A deficient, who are yellow in the skin from the beta carotene. So, you can pick those people that they're eating plenty of the types of things that should give vitamin A. Vitamin A levels are low, and those people clearly have that beta cleavase defect. And it can be very, very difficult in them to raise their vitamin A levels unless you give them something with vitamin A in it.
The other point that I was going to make is prolactin is also pro-inflammatory in a way. It was raised at the last BioCeuticals Symposium that if we're dealing with autoimmunity, having high prolactin levels is a predictor of inflammatory outcomes and of worsening inflammation. So, if there is inflammation anywhere, raising the prolactin at a time where there is not breastfeeding, where there's not control of other hormones has its own independent risks. So, inflammation is really good for anything, and it's certainly not good for fertility.
Amie: No, no. And I wonder if that's because of the impact of prolactin on progesterone levels.
Amie: And, you know, without that progesterone, you have oestrogen running the show, and we know that oestrogen is proliferative and proinflammatory. And so, I can certainly see how that relationship would work.
Mark: Right, yeah.
Amie: But again, it's really, I guess, a sign of an underlying dysfunction of some sort, which that's what makes our realm of medicine so exciting.
Mark: It does.
Amie: You know, you're a Sherlock Holmes of the genetic and nutritional world to figure out why a person's body is doing a particular thing. But I think really that kind of circles back around to what we said at the very beginning. If you consider your fertility and hormonal health to really be an indicator to you of your overall wellbeing and health status, it then invites you to really look a bit deeper as to why your hormones might be misbehaving. I mean, the hormones have really copped it for a very long time. I could...you know, I think almost everybody at some stages blames something on their hormones, but we need to, I guess, reframe how we view hormones and understand that hormones are simply a response from our body to the environmental input our receiving, and that includes diet, that includes stress, what we think, what we eat, what we feel.
And so, we have a lot more power and control over our hormonal health than we realise, and that's, again, one of my frustrations with, you know, technological interventions for trying to have a baby. They fail to investigate and address these underlying issues for men and women that really why they're brought into an IVF clinic in the first place.
Mark: Yeah. And I think they also miss an opportunity. Often we do these checks to say, "Oh, the baby is healthy." We identify that the health outcomes of assisted fertility are often not as good as we had hoped because no one ever stopped to ask the other questions about why is fertility low and should this family, this child, this mother, the breastfeeding mother, should there be more investigation? Should we go deeper…
Mark: …not just into what we can do to trick the body into carrying a fertilised ovum, but what can we do to bring a baby into the world ready to meet the challenges that maybe their mother was struggling with all the way along?
Amie: Yes. Well, that's a great point, and one thing I want to point out is the success rates that they advertise are not for take home babies.
Mark: I know. It's a cowboy industry out there, and I think if you ask doctors these days what we're most ashamed of, it would probably be that whole fertility industry that raises hopes, pretends that it's all just a technical issue, and then people get their babies and are very grateful after maybe $60,000 to $80,000 to $100,000 without ever having been talked to about nutrition, about lifestyle, about sleep. But that's just too common for the high-tech fertility clinics to manage. So many people are preparing for fertility management. When the stress drops off, and they think, "Oh, we're going to have a baby," they accidentally get pregnant without even the intervention. And it happened to my sister-in-law. It's happened to many of my patients that the moment the stress is relieved, it's like a flood of something goes back, and the body says, "Oh, I know how to do this."
Amie: Yes, absolutely. And I think I can say the same for many of my patients. I can tell you it's such a lovely thing to have happen, but it really points to the impact of stress. And, I guess, I really want to point out something else about fertility. When you are bringing a new life into the world, as a woman, you are at your most vulnerable on many levels, and certainly, for a male that's invested in supporting the woman who's carrying his child, the same goes, it's a very vulnerable time. And so, any feedback of stress, whether it's physiological or psychological to us on a cellular level feels like we're about to be eaten by a tiger.
Amie: Which is definitely not a good idea to either be pregnant or fall pregnant, which is exactly why libido goes down with stress as well. And we know too that stress hormones also reduce FSH in men and reducing sperm count as well, and so stress management is key. And then when you think about all of the patients engaging with IVF and the pressure that is on them and the impact of the stress hormones there, even if they were to just be informed of the other things that are in their control, it would probably take a lot of pressure off. And ultimately, I would personally like to see, and I'm sure you would agree, the day come where fertility clinics are working hand in hand. I have no doubt that for many couples or many women looking to conceive, IVF will become redundant. But I would also expect to see success rates, the true success rate as in taking the fertilised embryo to full-term and having a healthy baby who is, as you say, fit for the rigours of real life. I would imagine those numbers would increase exponentially with appropriate diet and lifestyle intervention as well.
Mark: There's one patient I can remember three years of attempts for assisted fertility. They recognised, oddly, that she was a homozygous methylenetetrahydrofolate reductase person, but they gave her five milligrams of folic acid.
Mark: And the five milligrams of folic acid apart from the dosage, which we may question, but folic acid is not the thing to do. And in three weeks after changing to methylfolate after having maybe something more appropriate for that cycle, the pregnancy not only occurred naturally but went on and persisted through the first three months afterwards.
Mark: Sometimes the simplest answers have to be instituted. They're not too simple for a fertility clinic. The clinic got part the way, but it didn't get that extra distance to say, "Oh, and what is the biochemistry here?"
Amie: Well, I guess that's what makes this particular seminar that I'm delivering with Denise so rewarding because there is a huge gap in education and, of course, execution of this information, and I think it's really important when you are looking at genetic polymorphisms or mutation if you want to call them that, is you know what to do with them when you identify them.
Amie: And, you know, certainly, in the case of the MTHFR giving five milligrams of folic acid is not what you want to be doing.
Mark: No. I’ve got to, I mean, we need to be careful, mutation in one sense, but these are mainly what we're dealing with is the single nucleotide polymorphisms. There's a different type of thing, women who've had exposure to radiation or carcinogens, even though the eggs are relatively well protected, there are other types of mutation that we have to separate a little bit from these.
Mark: And the reason I say it is the SNPs are part of our evolutionary history whereas the aggressive mutations where pieces of DNA are set fly.
Mark: They’re a different kind of injury, aren't they?
Amie: They certainly are a different kettle of fish. I do want to come back to something you said earlier about your history with organic chlorines and other environmental pollutants. Denise shared with me something very interesting about how these chemicals can actually attach to DNA, called DNA adducts…
Mark: Right. Yes.
Amie: …and they also affect the expression of that gene even if the gene is if you want to say healthy or normal or your normal wild type expression.
Amie: And so, again, you know, when people blame DNA for stuff, obviously, there are some key things that cause really serious mutations…
Amie: …but with the DNA you've been given, it's almost like playing a game of cards. If you know how to work with what you've been given, there is so much that diet and lifestyle can do to influence the way they are expressed. And when you think about it, DNA is really a blueprint passed onto us that maps out the way in which we...basically, it tells us what the environment is like and how we need to be able to respond to it in order to survive. And so, by cleaning up our bodies, we can then really optimise genetic expression and again produce the best possible outcome for our offspring.
Mark: I sometimes think DNA, you know, the idea of the blueprint can be a bit deterministic. I've called it a menu. It's like going to a restaurant, and you've got, you know, 23,000 items on the menu and the expression or the utilisation of them is accounted for by so many other factors.
Mark: So, if you don't have fatal mutations, you are, by definition, an evolutionary success. But from that menu, it seems that if we work at it, that we can keep the ones that would have negative health effects under control and we can promote the ones that have very positive health effects.
Mark: So, our genetics is more what we select, and if we know a little more about it, evolution itself does that, you know, we choose our foods, we love carotenoids, we choose our food, which is really the way of manipulating our own DNA through diet. And I think we're learning more about how it's organised, what expresses it and what we can do at the subtle levels, whether with supplementation, food, stress management. It's just the most exciting time that we're not stuck with DNA that's just crappy. And you have to say to a person, "Oh, I'm sorry. You can't be fertile because of crappy DNA." What we have is everybody is alive, and if you've confined your weak spots and cover them and find your strengths and bring them to the fore, it seems like fertility and health go together.
Amie: Absolutely. They do. What a brilliant way of putting it.
Mark: Well, I didn't invent that way of thinking about it, but it does strike me that fertility is not different than life and healthy life and fertility. That what we know about the DNA, what we know about diet, what we know about environment helps us to make decisions. But at the deepest level, I think women have a fundamental, if we don't crush their belief systems, have a fundamental ability to know what's good and bad for a baby and what's good and bad for them. And that's why males sort of run the world making pesticides saying “See? No harm anywhere.” We don't have the subtlety of that appreciation. A pregnant woman is not fragile but brilliantly resilient, and they make choices that are incomprehensible to a male. And those choices seem to keep on bringing about babies. What we're stuck with now is they can't get pregnant because of an environment, and a diet, and other factors that are, you know, difficult to put together, but it does seem like the hope is there for fertility now.
Amie: Absolutely. And I think the more we understand the epigenetics that we have in our power to manipulate through diet and lifestyle, I think, you know, applied widely, we should see a shift and a turn in the statistics of, you know, fertility in both men and women.
Mark: Yeah. It's amazing that information and available information and the fact that many of the women that I see already knew what was good and was not good for them. Deep down, they know that birthing vaginally, even though doctors believe it's, you know, nicer and neater to do a cesarean, birthing vaginally has its advantages. That breastfeeding has its advantages. I came through a time where I, as a young doctor, told people that breast milk was inadequate for the nutrients that were needed for a baby, and I look back and think, "How could I ever have believed that? What a crazy thought that a cow could raise a baby better than a mother?" But it does give you a bit of an idea about how far down that technical slope we went thinking that mothers were incompetent, and all the time they knew better than we doctors did, how to become pregnant and raise babies.
Amie: Yes. And I think that's another, I guess, nod to where medicine has come from, and perhaps restoring women's connection to themselves and supporting their intuition…
Amie: …is also going to be a big part of restoring a lot more than just fertility and health, let's be honest.
Amie: But, you know, we see reports almost weekly of women who knew something was wrong with their child. They were turned away from the hospital, and the child dies or ends up severely injured as a result of, you know, medical professionals determining that they knew best.
Amie: And, certainly, you know, with social conditioning and constructs, women have not been supported to be empowered and in charge, and I think in spite of all of that, we continue to try.
Mark: I know.
Amie: And, certainly, when it comes to pregnancy, I think there's no time more where a woman is most called to step into doing what she feels is right and, certainly, I think with this change of tide, we're going to see more and more women feeling that inner strength and tuning into that intuition and really driving what's best for them and their baby.
And certainly, you know, in light of the panels of polymorphisms that we've been doing recently, it's interesting to see prior to knowing their genetic polymorphisms, many women have already figured out…
Amie: …the nutritional and diet and lifestyle interventions that have them feel best.
Mark: Yes, you’re right.
Amie: And then you see it, you know, on paper in black and white, there's a polymorphism here, and therefore these are what you should be doing. In most cases, most of the time women have already arrived at that same conclusion, and so it's actually really incredible to see the data mirror that intuitive move to working out what's best for that individual.
Mark: To raise a baby, I mean, there's the whole thing about does a community raise a baby? But that intermittent relationship with bringing to life a new baby has got such a profound intuitive side to it that I think it actually scares us doctors, that we think everything is rational that we can work it out. But to create life from pretty well nothing is an extraordinary ability, which if intuition were not good, we wouldn't be here.
Mark: And the idea that we practice evidence-based birthing processes with less than 50 years behind us, 2 generations at the most, and women have practised evidence-based reproduction and bringing healthy babies into the world for the million years before, I think we have discounted the very people who can deal with complexity, whereas we male doctors have a tendency to think like the students we were, a problem to be solved, here's the answer to it. And it's not complex and it doesn't incorporate environment. It just incorporates the kind of small snippets that we know about. I think the future is with women that if we do well with fertility, we will do well with health. Until we hand fertility back to women and the understanding of the whole of life, whole of environment, whole of stress, I don't see us getting very far with fertility as a kind of a sideshow of the medical tricks that we can do.
Amie: No. I agree, and certainly, you're only going to find evidence if you've gone looking for it.
Amie: And you only go looking for evidence within the paradigm of your own understanding. And so, you know, I think quantum physics is probably a lot further down the road in many ways and perhaps they will reveal, you know, the mathematical black and white scientific explanation for intuition, if you want to call it that. But until then…
Amie: …we have to feel our own way and then hopefully, just remain open to everybody doing the same.
Mark: That's going to keep us boys very interested in...you know, we can play with our toys and computers and big data all that we like, while women get on with the job of ensuring the survival of the species. It's an excellent way to go.
Amie, it has been delightful to talk with you. I am sure we will talk again. I'm keen to see how your mystery tour ends up and what feedback you bring back to us in the future.
Amie: Well, thank you very much, Mark. It's been lovely speaking with you.
Mark: Thanks, Amie. It's been great.