Episode Transcript
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Katie (00:00):
In today's episode, we'll be
taking a deep dive into why M-T-H-F-R
is only one piece of the fertilitypuzzle and how your genes can impact
your fertility and getting pregnant.
Welcome to the finally GetPregnant Naturally Podcast.
The podcast helping women identifythe real reasons you haven't
(00:21):
conceived or stayed pregnant, soyou and your partner can finally
grow the family of your dreams.
I'm your host, Dr.
Katie Wood.
Let's dive in, shall we?
In this episode, you'll discover
why M-T-H-F-R is not the whole story, how
oxidative stress and genetic weaknessescan affect your egg and sperm quality,
(00:42):
and how genetic testing can uncoverhidden causes of fertility struggles.
I'll be talking with Jaclyn Downs offunctional genomics and author of the.
Academically published book,enhancing Fertility Through Functional
Medicine, using Nutrigenomics tosolve unexplained infertility.
(01:03):
She helps clients and practitionersmove past puzzling roadblocks and
individualized protocols throughthe use of genomic interpretation,
functional lab testing, and ameticulous intake consultation.
So welcome, Jaclyn.
I am super excited forthis conversation today.
Thank you for having me on.
(01:25):
Yeah, so your book hasbeen near my bed stand.
I think it's been a really funread to do as I'm really just.
Diving more and more into clientcases, especially clients who have
maybe been a little bit trickier interms of what is going on here, right?
We've tried some things.
(01:45):
We're not really seeing theshifts that we would expect.
So what is going on?
So let's get started.
I think that the M-T-H-F-R mutationhas become one of those things
that you see often on social media.
It's almost like folic acid waslike the glorified B vitamin.
(02:06):
But now we're learning somuch about choline as well.
There's so much more to justhaving an M-T-H-F-R mutation.
So why does that not standalone,like that's not the only
potential issue, right?
That could be going on withsomeone's fertility struggles.
Jaclyn (02:24):
Yeah.
In my book I talk about how.
So much emphasis is placedon M-T-H-F-R, but I'm not
discounting the importance of it.
But we can't just focus all of ourattention on that single gene because
functional genomics, no, no snip, whichis a single nucleotide polymorphism.
A snip is like a rung and a ladderthat can be a little bit different.
(02:47):
So everybody has different versionsof it, but we can't just focus on
M-T-H-F-R because there are so many.
Genes and enzymes and nutrientsupstream, downstream, to the left, to
the right, to the back to the front thataffect the functioning of M-T-H-F-R.
For instance I just made a postabout how it doesn't matter whether
or not you have an M-T-H-F-Rvariation, if you don't have enough,
(03:10):
vitamin B two M-T-H-F-R can't work.
So everybody focuses on methylfolateor folic acid or folinic acid, but
really we can't just focus on that.
So I always use the analogy.
Just focusing on M-T-H-F-R or maybe eventhe other buzzwords, or COMT and MAOA.
Just focusing on those is likethinking, you know what a puzzle
(03:32):
looks like based on a couple pieces.
There's just not enough points ofdata to get a full comprehensive
picture of what's really going on.
Katie (03:41):
So it sounds like there's
a lot of other things that are
impacting the M-T-H-F-R, whetheryou have the mutation or not.
Jaclyn (03:49):
Yes, absolutely.
And another one, I just actuallywrote my newsletter about this.
I have a gene scene newsletterwhere I spotlight a, a different
gene each week, and it's on thefolate receptor, the FOLR gene.
And so if the folate can't even getinto the cell, it doesn't matter if you
have a genetic variant in M-T-H-F-R ornot, because the folate can't even get
out of the starting gate, basically.
Katie (04:11):
Mm-hmm, mm-hmm.
Absolutely.
And so oxidative stress.
That is another big term that we'reseeing a lot, and I don't know that people
necessarily have a full understanding ofwhat is that what does that even mean?
And, and how can our genes influence that?
Yes.
Jaclyn (04:31):
So part of the reason why I wrote
my book is because I wanted oxidative
stress to become a household term, justlike inflammation and oxidative stress
and inflammation are this vicious cycle.
So one causes the other.
So what I consider the definitionof oxidative stress is.
The reason why we need antioxidants,right to neutralize the oxidation, but
(04:55):
oxidative stress causes damage to thecell, to the cellular structures, and also
the information that the cell contains.
And so antioxidants help to protect.
The cell from that oxidative stressbecause we need to have healthy cells.
It really all comes downto the health of the cell.
Our nutrients need to get into the cell.
(05:17):
Our waste needs to get out of thecell, and cells need to be able
to communicate with each other.
Oxidative stress is extremelyimportant because if it is left
unchecked, it will lead to chronicinflammation that is at the root of,
most conditions in our modern society.
Katie (05:35):
So how can oxidative
stress affect someone's fertility?
So
Jaclyn (05:40):
the eggs and sperm
typically take the first hit when
there is some sort of stressor.
And so oxidative stress canbe caused by most people.
Think of environmental toxinsor just stress in general.
But really it can be causedby nutrient deficiencies and
it's also just a naturalbyproduct of metabolism.
(06:02):
We need oxidative stress to fight offpathogens and to help our body heal.
But it's when it becomes chronicand low grade and long-term is
when it's the problem, and thenit starts affecting our cells.
And like I said, our egg and sperm are thefirst to take the hit because those are.
More disposable.
(06:24):
In order for us to stay alive,we don't need to use those
cells in order to stay alive.
And so the body basicallyrobs Peter to pay Paul.
And that is why our reproductive cells arethe most vulnerable to oxidative stress
and then that affects our fertility.
And there are a lot of genes that cancause oxidative stress, whether they cause
(06:48):
nutrient deficiencies because they'renot transported or they're not getting
into the cell, or because we're notmaking enough antioxidants or, and I'm
finding this very, very often, especiallywith my fertility clients, is that our.
Pro-inflammatory messenger genesare just hypervigilant and on high
alert and they're over firing.
(07:08):
And so it's having this exaggeratedresponse to something that
doesn't need to be that powerful.
Katie (07:17):
So someone's state of their genes.
Could maybe predispose themto more oxidative stress.
A hundred percent, yes.
Now, I
Jaclyn (07:28):
want to emphasize that just
because you have a genetic variant
doesn't mean that it's doomed to express.
So that is where the whole,like genetics loads, the gun
environment pulls the trigger.
But if you have.
Like a polygenic risk score.
So if you have a genetic predispositionfor low glutathione production or
(07:52):
recycling and excessive inflammatorymessenger production and nutrient
deficiencies, all of those aregonna be like marbles on the
side of the scale for there to besome oxidative stress and issues.
Katie (08:05):
Mm-hmm.
Okay.
Okay, because I know, we were about likethe weaknesses in the genes that could
affect egg quality or sperm quality.
So is that kind of where that comes in?
Jaclyn (08:18):
Yes.
Yep.
So anything that's going to affect youroxidative stress or your nutrient status,
especially your detoxification ability,is going to impact the cellular health,
which will cause oxidative stress.
Katie (08:31):
Mm-hmm.
So I'm feeling like this is wherenutrition in lifestyle play a huge role.
'cause like you said, our geneshold the gun, but the environment
pulls the trigger, right?
Yes.
Yep.
So if, if someone is maybe not eatinglike a high quality Whole Foods diet,
(08:53):
or maybe they're under a lot of stressor just have a lot of chemicals in
the home and things like that, thenthat can make it more likely for.
Certain gene issues to express themselves.
Jaclyn (09:05):
Yes, a hundred percent.
And then also if, if those toxinsbioaccumulate, which there are genetic
predispositions for that as far as,your bile flow and poor detoxification
pathways, then that's just only going toincrease the likelihood of that happening.
Katie (09:20):
Mm-hmm.
Okay.
Okay, got it.
Because I know sometimes, and,and maybe this isn't related,
so you let me know, with PCOS orendometriosis and things like that.
A lot of people will say, itruns in my family, it's genetic.
Mm-hmm.
But at the end of the day, I know,and I'm sure, there are things
that we can do to to shift thatand change that and influence.
(09:45):
How that is showing up for our body.
Jaclyn (09:47):
Yes, absolutely.
And that's what I loveabout functional genomics.
These are genes you canactually do something about.
So it's not like, oh, I have agene for muscular dystrophy and
there's nothing I can do about it.
That's unfortunate.
At least right now.
Maybe science, istrending differently, but.
Functional genomics, you canknow that, okay, this gene makes
(10:08):
this enzyme, but this enzymerequires this nutrient to work.
So if we provide adequate amountsof that nutrient, we can help to
compensate for the genetic weakness.
And so you can help to compensateor bypass for some genetic variants.
Mm-hmm.
Katie (10:27):
Okay.
Beautiful.
And when would you recommend that someonestart considering genetic testing?
Jaclyn (10:35):
I don't think it's ever too early.
And it's one test.
It's going to be the same resultsfrom the day you're born as
they are on the day you die.
And there's so many differentthings that we, so many different
seasons of life that will knowingwhat your genetics show can really.
Help to inform what's going on orthe best course of action to take.
(10:58):
So for my fertility clients, yes, it'sgreat for helping to identify root
causes or why something worked or didn'twork, or which would be the best form
of a supplement or that kind of stuff.
But also maybe as they get older intomenopause and they start getting achy
joints or some weird skin stuff, like wecan always go back to the genes and see
(11:19):
what kind of predispositions are there.
And we can also measure whenyou pair the genetics with
functional lab testing, that's.
That gives you so many more points of databecause the genetics provide the framework
and then the lab tests can show you what'shappening in real time and if those genes
are expressing and if so, to what degree.
Katie (11:41):
Mm-hmm.
So it sounds like it would be a reallysmart investment to make before you
start trying to build your family,because the benefits are endless really.
It could improve your fertility, ideallyshorten the time from conception.
If there are issues, it can helpwith pregnancy, especially knowing
(12:02):
what things could be going on.
Underlining and postpartum like postpartumnutrient deficiency is, is just such
a big thing in our day and age becausewe push and push and push and we don't.
Sit back and nourish ourselves.
And then as we age and get older,like it just sounds like there's so
many benefits to doing this and notwaiting until there's a big issue.
(12:27):
To do it.
Jaclyn (12:28):
Yes.
I completely agree.
The, the clients of mine that I call theunicorns are the ones that are going to
be getting married soon, or are recentlymarried or starting to think about having
children because then we have time tooptimize that egg health and sperm health
and replete nutrient deficiencies andreally get rid of toxins because we
don't wanna pass our toxins onto ourbaby in utero and through breast milk.
(12:53):
And really.
Preconception optimization isideal and the genetics can really
help you to fine tune that.
Now, of course, cutting out, avoiding theplastics and cutting out the toxins and
eating a more nutrient dense diet, likeall of that is the foundational stuff.
And, and what I find is thatthe people that seem to.
(13:17):
Come to me are the people that are alreadydoing those things, but they're still
X I'm eating clean and I do all thisand, I'm, I'm all up on like the latest
research with toxins and biohackingand everything, but I still feel like
crap or I still can't get pregnant.
And so that's where the genetics canreally help to flesh out the stuff.
Okay.
You're already avoiding plastics.
(13:38):
You're already eating a lotof cruciferous vegetables.
You're already using.
Natural body care products and stuff.
And we can just dive right in becausethere's not, all of the modern day
toxins and things that rob our bodiesof nutrients to, to educate them with
because we can't just treat the snip.
So many people are like, oh, I haveM-T-H-F-R, I'm gonna start taking
(14:00):
methylfolate without changing theirdiet or without addressing their
lifestyle, or, their house environment,the things that they have control over.
They just think that it's almost akin toallopathic medicine where it's instead
of taking a drug for a certain symptom,they're just gonna throw a supplement
at it and we can't treat the snip.
We need to look at the whole picture.
Katie (14:20):
Mm-hmm.
Yeah.
And that actually leadsme into my next question.
So what would be some of those foundationsthat you would recommend that is just
gonna have a benefit for anyone nomatter what your, your snips might be?
Jaclyn (14:34):
Okay.
Avoiding the toxins first off,which is really, really hard
to do in this day and age.
So without getting overwhelmed, just trya, this is better than that approach.
Try and just eat a nutrient dense diet,preferably organic, getting enough sleep.
Sleep is essential and it's free.
And I talk about that in my book.
Balancing Your Blood Sugar is another one.
(14:57):
A lot of people think I don't havediabetes and so my blood sugar's fine.
But there are subtlesymptoms, wonky periods.
First off, your regular periods,really problematic periods.
There's likely a blood sugar issue goingon, but also if you get hangry, if you
have a mid-afternoon slump, so you don'thave to be obese and you don't have to
have elevated glucose all the time inorder to have blood sugar dysregulation.
(15:22):
And so your blood sugar.
And your insulin insulin's ahormone and all your hormones
play in symphony with each other.
So it's really just, all the thingsthat we as human beings have been
doing for thousands of years, right?
Getting good sleep, being connectedto the earth, getting fresh air
outside, eating whole clean foodwould be the foundation of everything,
(15:43):
no matter what you have going on.
Katie (15:46):
Yeah.
Yeah.
And I agree with all of those 110%.
I think doing those aregonna get you so far.
But like you said, you have some clientswho are doing all of those things already
and then they're still having some issues.
So I actually have a client right nowas well, who is doing all those things.
(16:06):
She had a Dutch test in the fall.
Definitely saw that there wassome issues with like phase two.
Estrogen metabolism mm-hmm.
Has made changes to help support that.
Like you said you can't justsupplement with methylfolate and
expect things to, like all thethings that just fall into place.
Mm-hmm.
And she was working with a, adifferent provider at that point.
(16:29):
We ran another Dutch test.
In, early summer and she's stillhaving issues with that phase two
metabolism despite having madecertain changes to help support it.
So what would be your likesuggestion for a case like that?
Do more genetic testing or,she also had a lot of nutrient
(16:53):
deficiencies on a lab that we did.
So is it like, let's look at the gut.
Are you not absorbing what you're eating?
'cause she has made so many ofthose foundational changes already.
Jaclyn (17:06):
Yeah, it really, a gut test
will be very informative for sure.
But that's also when people are alreadydoing things and they have addressed
the gut and nutrient deficienciesand absorption issues and stuff.
That's when the, thegenes are pretty telltale.
So if she's still having some phasetwo issues, then we can look and
(17:29):
see what her methylation genes.
Are saying what her glucuronidationgenes and her sulfation genes
are saying, and there's dozenswithin each of those pathways.
So it's not just M-T-H-F-R andthe methylation pathway, the more
important that a process is totake place in the body, the more
backup roots the body has for it.
So clearing estrogen is very important.
(17:52):
So it's not just methylated, it getsgluconate and sulfate, and then it
goes through phase one and phase two.
So the genes.
For something like that, if you've doneall the things and you're still having
an issue, that's where you can usually.
Tell if there's a genetic predisposition.
So The genes are great to pairwith functional lab testing.
(18:12):
Again, another reason whyis because, okay, is this
caused by an external factor?
Maybe she's been exposed to mold, right?
Or maybe she does have gutissues and she's not absorbing.
But if those things have beenchecked and addressed, then.
It's probably a genetic thing that's,that's going to need some ongoing
support as opposed to, oh, it'sbecause of mold or poor gut health.
(18:33):
You can correct those and takecare of those, and then the
markers should look the way thatthey're supposed to look ideally.
Does that make sense?
So you can use your genetics tosee if something is a secondary
result of something or if it'sgenetically driven and you can
support the functioning of that.
Katie (18:52):
Mm-hmm.
Yeah, absolutely.
And, and I know in your book, i'm probablygonna say it wrong, but I'd love for you
to share the analogy you have about takingthe trash out of your door because Right.
estrogen metabolism is very,very important for fertility.
So if you wanna share that with thelisteners, I think that could be fun.
Jaclyn (19:11):
Yes, and actually, one of my
favorite markers on the stool test is.
Beta glucuronidase andwe can talk about that.
But so a lot of people just think,oh, I'm gonna do a liver detox, right?
And I even made a post last yearnever just do a detox in a box.
Don't do that because in mybook I talk about a bottoms
up approach to detoxification.
You don't wanna stimulate toxinsto come to be mobilized from the
(19:34):
liver if your bile is not flowingand if you're not pooping every day.
And so okay to tonight, Tuesdaynight is trash night for us.
So we go and we collect all of thetrash from the waste baskets in
the bedrooms and the office andthat kind of stuff in the bathroom.
And then we take them downstairs andput them into the big kitchen bag, and
(19:54):
then we have to take the kitchen bagoutside the front door to the curb.
And so if you're not pooping everyday, you can collect all the trash
in the house, but that bag is notgoing to get outside of the house.
So you have to make sure that the frontdoor opens so that things don't build up.
So first off, you have to be poopingevery day, but the trash from the bedrooms
upstairs and the bathroom upstairsisn't going to be able to come down
(20:17):
to the kitchen to get put in the bigtrash bag if your bile is not flowing.
So bile, one of the many amazing thingsthat our underrated bile does is it
takes toxins from the liver and escortsthem into the gut to be excreted.
And so if your bile is not flowing,those toxins aren't able to get into
the gut to be removed by the body.
(20:38):
And you wanna make sure you're poopingfirst, then you wanna support bile flow,
then you wanna support your phase twoliver detox pathways, and then you wanna
support your phase one detox pathways.
That way you're making sure there'sno traffic jams or clogged pathways
and then the stool testing forthe beta glucuronidase, that's a,
that's an enzyme that helps to makesure that the, the trash bag stays
(21:01):
closed, and is taken to the curb.
But if you have.
Elevated levels of beta glucuronidase.
That's a marker and you cantell if it's not working right.
Then it's basically like you'reopening the trash and just spilling
it back all over the kitchen floor.
And so you wanna make sure that thatestrogen stays packaged up and has a bow
on it and, and is removed from the body.
Katie (21:22):
Mm-hmm.
Yeah.
So you have a freebie for the listeners,a cheat sheet on how genetic testing
solves unexplained infertility.
Could you tell us a little bit about that?
Jaclyn (21:36):
Sure.
It introduces people to the concept ofwhat genetic testing can and can't do,
and how it can give you an edge beyondjust regular functional lab testing.
So what you can tell from genesand what you can't tell from genes.
Your genes for my genetic interpretations,it's never going to give you a meal
plan or anything like that because.
(21:58):
Those companies that are doing thatare really only looking at your
genes and they're not looking atthe whole person and they don't know
your history and they don't knowwhat's worked, what hasn't worked,
your level of activity, all of that.
So yeah, the freebie, the cheatsheet just explains what genetic
testing is and and how you can useit to figure out a path forward.
Katie (22:22):
Amazing.
So the link for that willbe in the show notes.
Definitely check that out and download it.
And I'd love for you to sharewith the listeners about your
book, because I know you wrote it.
For practitioners, but you also wroteit in context for regular people
who are just trying to conceive, getpregnant, and they want to do what
they can to better their chances ofconceiving and improve their health.
Jaclyn (22:47):
Yes.
So many people are told that IVF istheir first and only option, and I give
lots of reasons why that is not true.
And there's many, manythings that you can look at.
I originally was gonna make two books onefor the lay person that, that is motivated
and curious and, and really advocatingfor themselves on their fertility journey.
(23:07):
And the other one was gonna befor the practitioner to use as a
guidebook, but I put them in one.
And so the technical, biochemicalgenetic information that's a bit more
meaty is in appendices for each chapter.
A lot of people can get a lot ofdifferent things out of it and even
people that aren't necessarily tryingto conceive, because really the book
(23:28):
just looks at common, but lesser knowncauses of oxidative stress that are
at the root of so many chronic andpuzzling conditions because again,
it all comes down to cellular health.
Katie (23:39):
Mm-hmm.
Yeah.
And whether you're trying to get pregnantor not, being fertile is a very key piece.
Your health.
If you're in your reproductiveyears and you're not fertile,
then there's something going on.
So it can apply to so many differentthings and it's a very easy read.
I feel like conversational, it feels likehaving a conversation with you and if
(24:00):
you wanna dive deeper, like you said, youcan go to the appendices and learn more.
Mm-hmm.
So I highly recommend that.
I know I got mine off of Amazon.
I don't know if it'savailable anywhere else.
Jaclyn (24:11):
Yeah, on my website, Amazon
it's an academically published
book, so it's actually on theTaylor and Francis website, and I
believe it's on Barnes and noble.com
as well.
Katie (24:22):
Okay.
Yeah, I'll at least have the Amazonlink in the show notes for that.
And what are three simple actionsteps from our conversation that you'd
like to leave with the listeners?
Jaclyn (24:34):
I was listening to some of
your previous podcasts and I was
just very much in agreeance with whatother people have said, and so it's
so nice you gotta hear it twice, 3,4, 5 times because it's so important.
And so it's really.
Making sure that you have thosefoundational boxes checked off first.
Eating nutrient-dense foods, right?
(24:56):
I have a chapter in my bookthat says eat a nutritious
diet, not a healthy diet, right?
Because anything can be calledhealthy, but you really wanna
make sure it's nutrient dense.
So you need nutrient.
Four, all of your genes to maketheir enzymes and for all of the
detox pathways in our body to work.
So nutrition is reallyinformation for our genes.
So definitely nutrition.
(25:17):
It all starts with food.
Second would be make sureyou're drinking clean water.
So get the best filtration that you canand make sure you're remineralizing.
And then third, I think would be.
There's so many to choose from.
I'm gonna revisit the sleep.
Really get serious about your sleepbecause that's when our body heals.
(25:38):
That's when our body cleanshouse, that's when our brain
can get rid of a lot of toxins.
And yeah, those would be my three.
Katie (25:46):
Yeah, those are good ones.
Absolutely.
So let the listeners know where they canfind you, learn more and connect with you.
Jaclyn (25:53):
Yes.
My name is my website, Jaclyn downs.com.
J-A-C-L-Y-N-D-O-W-N-S.
And you can follow me onInstagram at Functional Genomics.
Katie (26:05):
Mm-hmm.
And I know you offer, genetic testing.
I don't know if you wanna share.
What that could look like, if anyone isinterested in learning more about that.
Jaclyn (26:15):
Sure.
I do ultra personalized, like customcrafted genetic interpretations.
So most companies are designedfor high volume and they're just
reporting about your genes, whichI touched on a few minutes ago.
But I do a very in, in-depthhealth history intake, asking so
many questions about your dentalhealth, your skin health, your.
(26:36):
Previous houses you've lived in, exposuresand stress levels and all of that.
And as I'm reviewing your genes tomake your typically 40 to 60 page
typed document custom interpretation,I'm, I'm emailing you saying, Hey, I'm
seeing some predispositions for this.
Can you tell me, is this an issue?
Does this run in your family?
(26:57):
Something like that.
And then I present the interpretationby combing through that typed document
that I created while showing you yourgenes in the software that I use.
And then I make a video sharing my screen.
And so you get the video and you getthe typed document, and then you can
always schedule a one-to-one consultationwith me if you do wanna dive deeper.
(27:19):
So they take a while.
They do take weeks or sometimesa couple months because.
Your spit test goes to RutgersUniversity, and then once they take
the six to 12 weeks to analyze yourgenes, then I do the interpretation.
So they're, they'rereally ultra personalized.
They're not your do you haveany of these 30 to a hundred
(27:40):
genetic variants, yes or no?
And then here's the information wehave about each of that, because
those reports contradict each other.
Like I said, they don't really knowyou and your history and your symptoms
and what's going on and what you'retaking and what you're not taking.
And watch out for those.
You get what you pay for with alot of genetic interpretations.
Katie (27:59):
It sounds very comprehensive
and personalized, which I think we
need more of in this day and age.
'cause we don't all fit into one box.
Yeah, definitely find Jaclyn, checkher out, check out her book, and if
you're interested in the testing,then reach out to her and do it.
Because like we talked about earlier,there's just so many benefits.
(28:22):
Outside of just getting pregnant,if that's what your goal is.
But thank you so much for your timeand just sharing your expertise, and
I know your passion with us today,Jaclyn, it was a fun conversation.
Thank you so much for having me.
Are you ready to finally discover why youhaven't been able to get or stay pregnant?
(28:43):
The Ultimate Fertility Blueprint is aquick, insightful quiz designed to reveal
your overall capacity to conceive and helpyou discover potential root causes and
areas to address to improve your fertilityso you can finally get and stay pregnant.
You will find the link in theshow notes as a quick reminder and
(29:04):
disclaimer, this podcast is foreducational purposes only and is
not a substitute for medical advice.
Always consult your doctor orhealthcare provider before starting
any new supplement or protocol,especially if you're actively trying
to conceive or undergoing treatment.