From n=1 to 23andMe: an Update on Hormonal Health

Disclaimer: Any information I present here on my blog is for informational use only–i.e. this is not to be taken as a substitute for actual medical advice. I’m just recounting my personal experience, and everyone is different, so please seek a doctor (eastern, western, functional, etc.) if you need one! Okay? Okay. On with the show! 

I wish I had a “good news” health update for you–but it seems as though, while I’ve learned A LOT, there hasn’t been a lot of progress made on the “regaining my hormonal health” front.

First and foremost, if you want to fully catch up on my functional medicine journey to heal my acne, amenorrhea, anxiety and more, read the following posts:

Acne, Amenorrhea, and Natural Hormone Cures

Still No Period (and What I’m Doing to Get it Back)

Candida I Beat Acne? 

Acne, Amenorrhea, and Anxiety: What an MTHFR!

The Ugly Truth: Acne, Amenorrhea, and Antibiotics 

Why My Acne Keeps My Doctor Up at Night

If you want the Clif’s Notes version, here’s quick summary of what my functional medicine doc and I are working on:

  • Female hormone imbalance (out of whack levels of estrogen and progesterone)

Long story short: nothing’s working. I’m dealing with some pretty ugly symptoms, especially in the acne, weight gain, and anxiety department, and, of course, I’m still without a period.

So obviously there was more to the story than everything I already knew about what’s going on with my body.

Out of curiosity, I bit the bullet and bought a 23andMe test kit. For those of you who haven’t heard of 23andMe (especially in the media s***storm of late, about which I will elaborate in a moment), allow me to quickly explain:



23andMe is a company that analyzes your DNA to determine your health risk factors, genetic traits, and even your ancestry. All you do is spit into a vial and send it in–within 2 months you’ll know everything from how likely you are to be lactose intolerant* to how much of your DNA is Neanderthal.**

Now, I had originally planned to tell you how to get your hands on this kit, because reading through the results and the research behind them has been my big, useful distraction as of late, but just last week, the FDA decided that it was time to shut 23andMe down.

“Why?” you ask. Good question. Here’s the quick argument:

Personal genomic sequencing is a touchy subject. While the financial costs of telling you everything you need to know about what science knows about hundreds of thousands of your personal single nucleotide polymorphisms, or SNPs, has come down significantly, the government is concerned that there may be some medical and emotional costs that are going un-covered in the $99 23andMe fee.

23andMe can tell you things you already knew, like whether or not you’re likely to flush when you drink alcohol (I don’t) or have curly hair (I do).

23andMe can tell you thinks you don’t really need to know, like what kind of earwax you have and whether or not you can smell asparagus in your urine.

23andMe can tell you whether or not you are likely to have an adverse reaction to a drug or a lower-than-normal response to a drug so you don’t waste your money or end up in the hospital.

23andMe can also tell you if you have a higher genetic possibility of breast cancer, Parkinson’s, Type 2 Diabetes, Alzheimer’s, Multiple Sclerosis, and a number of other rather scary conditions.

And that’s what the government is upset about. The problem is, 23andMe can only give you your results based on the highest confidence of the medical journals and tests to which they have access–which means that there may or may not be incomplete science behind the results they give. Moreover, while they suggest genetic counseling, there are no doctors there to interpret the results for you.

The FDA is worried that, even though 23andMe gives warnings about certain conditions and actually blocks users from viewing certain results until they’ve confirmed that they are willing to see the results and seek counseling to handle potentially unsavory results, people are going to freak out and seek medical intervention based on what they see.

For example, one of the gated results is the BRCA genes related to breast cancer. I was negative for that one, but for some, seeing that they’re at a potential risk can be emotionally devastating–and can lead to potentially unnecessary medical interventions like Angelina Jolie’s preventative double mastectomy.

So. Long story short: since 23andMe isn’t just claiming to be a fun tool for tracing your ancestry, but a potential source of important medical information about which we might make life-altering medical decisions, the company needs to get governmental approval–and it hasn’t yet given the FDA everything the FDA wants.

Now, I’m not going to get into a long political rant here because I do want to talk about the real reason why you’re probably reading this post, which is about the specific health journey I’ve been on, but here’s my quick take: I get it. What the FDA wants from 23andMe isn’t all that crazy–in the context of how our government currently regulates our health and medical lives. However, I think the fact that the government has been regulating our health and medical lives has done more harm than good (see: diabestiy crisis, the current state of medical insurance, etc.), and the fact that the government wants to limit my ability to make n=1 decisions about my own health is just as disgusting to me as the fact that the government wants to regulate the Food Pyramid/MyPlate so that they can push the foods they subsidize as healthy.


Hormonal health. MTHFR. What’s up?


In terms of physical symptoms, I really don’t think that the arsenal of supplements I’ve been taking have done me a lick of good. I don’t really feel like I’m struggling with my adrenals, and my digestion remains at status quo (which, to spare you the details, isn’t pretty).

The 23andMe test returned some rather interesting results. Not only was my MTHFR C677t mutation confirmed, but at the urging of some much more methylation-knowledgeable friends, I plugged my 23andMe results into Genetic Genie to get a better idea of what else might be going on with my methylation pathways.

And before I get too in-depth here, let me define my terms:

  • Methylation – a process by which your body regulates important functions such as gene expression and protein function. Improper or impaired methylation can lead to issues such as heavy metal toxicity, depression and anxiety, heart disease, cancer, and even neural tube defects, miscarriages, and autism.
  • MTHFR – one of the genes that regulates methylation. There are a couple of different polymorphisms that affect MTHFR function, and 40% of the US population has one of the MTHFR mutations. Mine is “homozygous C677t,” which is the most severe form of the mutation. Those with MTHFR have trouble processing folic acid/folate, a B vitamin, the improper processing of which can wreak havoc on multiple processes in the body. (And if you have an MTHFR polymorphism, it’s inadvisable to take any form of synthetic folic acid, because the body can’t process it.) The C677t variation can keep the body from processing up to 70% of folic acid ingested–which can lead to devastating effects on health.
    • If you have a couple of hours, I recommend watching this webinar with Ben Lynch of, which goes deep into the science behind what’s up when your methylation is down.
  • Genetic Genie – a website that analyzes SNPs related to your methylation and detox pathways, using your 23andMe data. (You have to authorize the site to analyze your data–you provide a password, and none of your data is being used without your consent.) Genetic Genie is great, because it gives you more than just your MTHFR–and it provides a summary of each of the mutations you have, based on some of the best research currently out there.

Once I put my results into Genetic Genie, as well as read Autism: Pathways to Recovery, which is a fantastic resource for anyone who wants to know more about methylation by Amy Yasko, I was able to start putting some more of the pieces of the puzzle together. (I got a ton of the information for this post from Ben Lynch and Amy Yasko, and I am still digging through their work to learn more!)

You see, there’s more to the story than MTHFR. There are multiple SNPs that can have polymorphisms, and the more mutations you have, the more enzymatic processes in the methylation cycle that are disturbed.

Here are my other homozygous mutations:







And here are my heterozygous mutations:


MTR A2756G

CBS C699T – 46 min in


What does this all mean? Here’s the shorthand:

  • VDR stands for “Vitamin D Receptor.” Vitamin D stimulates the enzymes that create dopamine. Malfunctioning VDR = malfunctioning neurotransmitters.
  • MTRR recycles Vitamin B12 and MTR creates the enzyme “methionine synthase,” which requires B12 to work. Methionine synthase converts homocysteine to methionine, So if there are issues in either of those pathways, B12 gets depleted rapidly, and homocysteine levels can rise (which is, in scientific terms, bad news bears.)***
  • BHMT also affects the conversion of homocysteine to methionine.
  • And the biggie: CBS. This mutation up-regulates the conversion of homocysteine to cystathionine. This leads to an excess of taurine and ammonia. And here’s the kicker (and the thing that makes me ultra sad): a high-sulfur diet can exacerbate the issues caused by the CBS mutations…and foods that are high in sulfur include garlic, broccoli, eggs, meat, and…brussels sprouts. I think this calls for a very unscientific and un-writerly: #facepalm.
    • I also learned something interesting in reading Dr. Yasko’s book: people with CBS mutations also have issues with blood sugar metabolism, red blood cell formation, and blood vessel stability–which may explain why I bruise like a ripe peach and bleed like a stuck pig.
    • Remember that series of horrific acne photos a few posts back? Well, turns out, there might be a reason: in Dr. Lynch’s webinar (referenced above), he mentions that patients with the CBS C699t mutation shouldn’t use methylfolate or B12, which are common treatments for MTHFR–treatments that I’ve been unsuccessfully using for the last several months.

Quite obviously, there’s still a lot of research that I have to do. Even in working with a knowledgable functional medicine doc, because this area of medicine is still so new and so underrepresented in the literature, I realize that I have a lot of gaps to fill in when looking at solutions.

Moreover, in doing all of this work to fix my gut while leaving my female hormones unaddressed, I seem to have pissed off my Polycystic Ovarian Syndrome symptoms. My testosterone levels appear to have been thrown completely out of whack somehow, as evidenced by rapid weight gain, ridiculous hormonal acne, and some very embarrassing hirsutism,**** which the woman who gave me a manicure on my birthday unsolicitedly pointed out that she could help with.

I just went in for another blood test this morning to measure testosterone levels, which may be elevated, and which may be more reason why my period still has not returned.

So there’s that.

Anyway, if you actually made it this far, thanks for reading. I hope that the things I’m just beginning to uncover are interesting, helpful, and give you jumping off points for conversation at cocktail parties (and/or your own medical practitioners). I really highly recommend looking at Dr. Lynch and Dr. Yasko’s work if you’re interested in learning more about methylation pathways and all of the ways they can go awry.

I’ll keep you updated on what I learn from this next blood test as soon as I have the results…

Stay hungry,


*Turns out, I’m very likely. No surprise, given the whole “stomach aches and acne when there’s even a little bit of dairy in my meal” thing

**I’m 3.2%, which apparently higher than average. Not sure how to take that one…

***High homocysteine = elevated heart disease risks

**** Excessive or abnormal hair growth in areas that women aren’t supposed to have hair growth.

13 thoughts on “From n=1 to 23andMe: an Update on Hormonal Health

  1. I was in the same boat as you with eating disorders and amenorrhea, but recently got my period back after seven years. Two things that I think greatly helped recover my menstrual cycle were the following: 1) Acupuncture and 2) eating sugar, primarily from fruit (following the guidelines of Ray Peat). I am not convinced that any one thing out there is panacea, but hope you can find something that helps!

    • Hey Maggie! Thanks for the insight! I’ve actually been eating a lot of fruit (probably more than necessary–like 3 lbs of grapes a day…)over the last several months…it’s been a while since I tried acupuncture though. I hadn’t had results the first time, but I wasn’t able to carry it out long term because of my work schedule at the time…maybe it’s time to revisit it!

  2. I’m so impressed with how much you must have had to learn to interpret these results and to figure out your treatment options Kaila! With that attitude and so much knowledge, I’m confident you’ll slowly find your way back to a better health – it just might take your body a longer time than you would like. I’ll keep rooting for you! 🙂

    • Thank you, Jennifer! As frustrating as this process has been, I think the amount I’ve been able to learn as a result as actually been worth the pain/suffering. Now, it’s just a matter of actually implementing what I’ve learned to see if it works!!

  3. Hi Kaila! Have you looked into getting your nutrient levels thoroughly checked? I have similar mutations as you (and dealing with Hashimoto’s, fatigue, acne, and awful digestion). My doctor had me take the Genova ONE FMV urine test as well as blood homocysteine levels to see if those gene defects were actually expressing themselves.

    Since going on the AIP diet, I’ve improved a lot, but still not quite there yet (and it’s so frustrating to be on such a limited diet, especially with social events around the holidays). From what I’ve been able to figure out, genes only tell us one part of the story — our environmental exposure affects the rest. Thanks so much for sharing your research and experience — though I hate that you’re also going through this, it’s so helpful to know I’m not alone!

    • Thanks so much for the recommendation, Anna! I actually did strict Autoimmune and had nothing change for me…I think that the nutrient deficiencies are definitely something I need to get checked out, but I’m probably going to have to wait until I stop doing this methylation protocol, which appears to be at the root of why things keep getting worse….

      It really is wonderful to know that we’re not alone on this journey–it takes away some of the anxiety and the fear that it won’t ever change. I am going to talk to my doc about getting the homocysteine levels checked next time we speak–and I promise to keep you updated!

      Stay hungry! ❤

      • Good luck with the next steps! I can understand the frustration of things not working, especially when you see other people responding extremely well. My doctor put me on glutathione (which is supposed to be super helpful!) but all it did was make me incredibly must-take-three-hour-nap-now tired. Oh well — must keep trying!

  4. Hi Kaila!
    Hmmm. Where to begin. My son and I both got our methylation panel done as well after we got the 23andme results. We had a lot out of order. I’m systematically going through it and making notes to myself on each individual gene in the yellow (+/-) or red (+/+). I’m cross referencing a lot of what I find on Phoenix Rising site, trying to track through and use the links they provide as to what worked. I know you’re reading through Yasko right now. She’s fabulous from what I know of her. She set this whole ball in motion. But there’s this other amazing group of people on Phoenix Rising who are applying her method, Ben Lynch’s methods, Rich Vank’s theories, and the phenomenal mind of FREDDD. They are working together to figure out recipes for methylation based on these genes, what works best for what, how to slowly experiment on themselves. You should especially hear everything they have to say about 1) paradoxical folate deficiency, 2)about knowing whether symptoms are signs of healing or worsening, and 3) about how to identify your own pills and poisons.

    So here’s a few of my pieces that I’ve gathered the last few weeks since we spoke. My son and I are both severely B12 deficient. (I told you his story, but really hadn’t gotten into mine. His was long enough.) THis is just a sample of what the DNA tests revealed:
    +/+ COMT x2, MTRR x3, FOLR2, GAD1 (high need for B-6), NDUFS7 x4 (CoQ10 deficiency), also HLA (celiac) for him, MTHFS (folinic acid intolerance) for him, and VDR for him.
    +/- we lit up the chart including 2 CBS mutations and for me all the BHMT. Since it was only +/- I went back and checked his NutrEval and sure enough he was high in Taurine so the CNS is affecting him.

    There are 2 active forms of B12 that the body MUST have to survive. One is methylB12 and the other is adenosylB12. A normal body can take food forms, turn it into methyl in the blood and then adenosyl in the tissues. The body uses both of them for different reasons, but it uses methyl first and then makes adenosyl if the MTRR is working right. MethylB12 causes problems with CBS, COMT, and BHMT. Different problems, but problems nonetheless. Furthermore, the MTRR drains it away. For my son, I have seen a HUGE difference in his energy and muscle tone when we increase the adenosylB12. We’re doing the methyl too, but slowly for both, like a car easing onto the gas, and if I do too much methyl, the acne is worse. Another key has been finding cofactors that work with the methylgroups like recipes. Vitamin E and zinc proved to be good. Niacin turned out to be bad.

    Also, I’ve discovered he needs the metafolin, but very small amounts. The key was to get rid of folic acid and folinic acid that were clogging up his receptors. I also have to be very careful to avoid folate draining meds, creams, and foods because that sends him into paradoxical folate deficiency which is what, I’m convinced, made him crash this past summer. (University of Maryland has a list.) Every time we get one of those, the acne comes back full force.

    I started taking the adenosyl this summer. Whenever we run out and I can’t get it for a few days, I’m absolutely a mess. The methylB12 helps somewhat but I have to be careful how much I take or I feel angry. Now I know why with that COMT gumming up my frontal cortex.

    Well. I have no idea if you’ve been able to follow all of this or not. I forget how much I’ve told you or not, but I’ve enjoyed getting your updates.

  5. Read my post through this morning and wanted to clarify. I was very tired last night when typing. The CBS, BHMT, and COMT have trouble with methyl groups. Therefore, if you use more methylB12 than your body needs, you suddenly have problems. That’s why it is important to start low and slow, ease on the gas pedal, with both methylfolate and methylB12. However, adenosylB12 does not create methylgroups. It’s a product of the methylation cycle, but doesn’t affect the COMT, CBS and BHMT. People with the MTRR need the adenosylB12 desperately and there is an even greater need if you have the complicating COMT, CBS, and BHMT.

    Another part of the equation is that methylgroups combine with other cofactors like vitamin E and zinc to do certain jobs. Imagine a military store room. The soldiers (methylgroups) get their orders (anti-inflammatory) and then come in to pick up their supplies (vitamin E) and then leave to go do their job. If they come into the store room and there’s no vitamin E on the shelf, they just stand around waiting for a new order. THen imagine more and more soldiers flooding into the storeroom clogging it up and the soldiers can’t leave to do their job… that’s when COMT, CBS, and BHMT begin to get upset. On Phoenix Rising, they talk a lot about building up your cofactors (supply room) but then going slow (controlling the pace of soldiers through the store room.) THey also talk about using lots of cofactors during the healing process but many of the people who have gotten well report that they can decrease the level of everything after they are feeling back to normal. Sometimes normal takes awhile and finding the right balance based on your individual genetic makeup is extremely important.

    One more note. Your friend above mentioned environment. I want to agree with her whole heartedly and offer another piece of the puzzle. Randy Jirtle, Ph.D with Duke University has done landmark work with epigenetics. His site is

    He deserves a Nobel Prize for his work. Here is his work in a nutshell. He proved that there is a layer around our DNA that is affected by certain chemicals in our environment and the thickness of the layer decides whether our genetic mutations will or will not express. These chemicals turn on and off gene mutations. It’s one thing to say I have MTHFR, CBS, MTRR… It’s another thing to say, I can definitely say it’s affecting me because of the NutrEval … It’s another thing altogether still to realize that exposure to certain chemicals can actually be what turned on the gene in the first place and reducing exposure to those chemicals will allow new cells and new DNA to stop expressing (turn off). We noticed a SIGNIFICANT improvement in my son’s condition and all of our immune systems when we stopped using plastics with BPA which mess up your hormones and immune system and turn on and off mutated genes. The difference was so profound that our primary doctor started recommending all her patients avoid BPA. These chemicals are now called endocrine disruptors. Since Dr. Jirtle’s original studies, many more researchers have jumped in and identified other substances. I’ve tried to keep my eyes on it. One major player another researcher recently identified is an ingredient in most foaming handsoaps. We’ve switched to a basic, all natural bar soap.

    Okay, I’ve probably inundated you enough for now. I hope this helps.

  6. what list at Univ of Maryland are you referring to above? ” I also have to be very careful to avoid folate draining meds, creams, and foods because that sends him into paradoxical folate deficiency which is what, I’m convinced, made him crash this past summer. (University of Maryland has a list.)”

    I am trying to deal with folinic acid intolerance myself and trying to research it and figure out how toxic folinic acid really is – I would appreciate anything you can say to help me with this –

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