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:
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 MTHFR.net, 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:
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…
*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.