Home » Fertility Issues--MTHFR » What Doesn’t Kill You . . . Makes You Want to Kill Yourself, Part 4–MTHFR (the conclusion)

What Doesn’t Kill You . . . Makes You Want to Kill Yourself, Part 4–MTHFR (the conclusion)


Dave and I cope with stressful or traumatic events with a hefty dose of inappropriate humor.  When the doctor told me there was a good chance that they were going to have to remove the fallopian tube that had ruptured, I asked him “Well, can’t you just, like, take a straw and, like, blow on it really hard to push the baby out of the tube and into my uterus?”  Apparently, this doctor has heard it all before, so he remained shockingly composed as he attempted to explain how that wasn’t possible!  Of course, I was completely kidding!  But you certainly don’t expect to have someone cracking jokes with you right after you’ve just told her that she’s bleeding internally and needs to be rushed into the OR for emergency surgery!

I was discharged from the hospital that afternoon, one fallopian tube lighter.  And sadly, no longer pregnant.  The recovery wasn’t bad at all.  By the 2nd day, the only thing I needed to manage the pain was Motrin.  And my mom took care of Jack for the entire two weeks that I was on bedrest.  If it hadn’t been for her, I honestly don’t know what I would’ve done.  Dave would’ve had to juggle work and taking care of Jack, while I sat on the couch feeling useless and guilt-ridden.

I spent my entire two-week recovery knitting a blanket for my Someday Daughter.  Because I certainly wasn’t about to give up hope that I would have another child.  The yarn I used is yarn I inherited from two of my grandmothers (both of whom are deceased), and yarn that I was given by my surviving grandmother.  I had already knitted a blanket for Jack with my three grandmothers’ yarn because I wanted the blanket to have sentimental value.  Now I was doing the same for my Someday Daughter.  I still haven’t finished it yet, but I’ll have plenty of time to complete it during Pregnancy #5.

2011.07.01 Baby Blankets 003

A baby blanket for my Someday Daughter

One of the worst things about my entire experience was that occurred just 3 WEEKS after my brother’s brain surgery.  And no, I’m not joking.  Within the span of one month, my mother had to cope with the emotional stress of two of her children needing life-or-death surgery.  She’s stronger than anybody I know.

Once I was fully-healed from my surgery, I began to do some research about fertility issues.  The strange thing was, unlike most women with fertility issues, I had no problems getting pregnant, but I couldn’t manage to stay pregnant.  It’s as if my body was destroying every fetus.  There had to be a reason why.  So I went on Amazon.com, looking for fertility books with the best reviews, and I stumbled across a book called “Is Your Body Baby-Friendly?”  Good question–’cause mine certainly ain’t!  It wasn’t a book you could order through Amazon.com, but the reviews were absolutely glowing.  So I bought a copy on eBay and devoured the information on every page.  THIS WAS IT!  This was the book that explained it all.


The book was written by a Reproductive Immunologist (didn’t know there was such a specialty either!), Dr. Alan Beer.  I then located a Reproductive Immunology Support Group on Yahoo! where women were using a “language” that was completely foreign to me!  They’d post their test results and ask each other for advice.  A typical post sounded much like this:

“My plan is to call on Monday and try to set up an IVIG.  4 weeks ago my NK 50:1 was 17.  DB told me to stop Humira and IVIg wait 4 weeks and retest and ttc.  He figured I would down regulate on my own. I am worried b/c it seems like my immune system is already working overtime.  I did double dose donor LIT on May 22.  I am going back for my 2nd double dose donor on next Sat 6/19.I want the IVIg to hold me over until the LIT can be effective.  I am of course on Dex, Lovenox,  progesteron, all preconp. meds.  Anything else I should do?”

And yes, the majority of that post now makes sense to me, but believe me–there was quite a learning curve involved!  One of the doctors that everyone on that board kept mentioning was Dr. Jeffrey Braverman, a Reproductive Immunologist on Long Island.  As I read their posts about him, I discovered that patients either loved him or hated him.  But I had already made up my mind–this was the guy I was going to see.  This was the guy who was going to help me.

People thought that seeing a doctor, who specialized in something they’d never heard of, whose office was over 4 hours away on Long Island . . . sounded like overkill!  But I knew what your average fertility specialist was going to tell me and they’d be wrong.  I knew I needed to see more than a fertility specialist; I needed to see a Reproductive Immunologist.  I had done the research, I had read “THE BOOK”, I knew what I was talking about.  And so I booked a consultation with Dr. Braverman.


My husband and I went to the consultation together and I immediately understood why patients either loved him or hated him.  He was friendly, but straightforward.  He didn’t care about your sob story.  He wasn’t going to give you a shoulder to cry on.  Dr. Braverman wanted nothing but THE FACTS.   And I was totally cool with that.  I didn’t need someone to hold my hand.  In fact, he never said anything comforting to me, like “That must’ve been difficult for you.” or “I can’t imagine the pain you’ve been through.” or “We’re going to get through this together!”  No, instead–at the conclusion of the appointment/interrogation–Dr. Braverman told us: “Don’t worry, we’re going to get you pregnant!”  After all, wasn’t that the real reason I was there?  If I needed help coming to terms with all I’d been through, well I happen to have a really great psychologist for that!

And so we left Long Island with a list of blood tests that Dr. Braverman had ordered for both of us that was about a mile long.  Almost none of the blood tests could be performed by my local hospital; a lot of the tests could be performed by a specialty lab like Quest Diagnostics, and the rest could only be performed by an even MORE specialized lab called ReproSource Fertility Diagnostics.  We are very fortunate to live only 20 minutes away from ReproSource, which is in Woburn, Massachusetts.  Typically, a phlebotomist from ReproSource would drive to your house to draw your blood, no matter how far away you lived.  In fact, when I called ReproSource to book an appointment to come to them, they told me that they were basically a laboratory.  There wasn’t going to be a waiting room full of people, holding deli tickets, waiting for their number to be called so they could have their blood drawn.  They could certainly arrange for me to have the blood tests drawn there, but actually seeing patients in their office was highly unusual for them!

The people at ReproSource were so unbelievably nice.  The tests were not cheap, and we were told that we’d have to pay out-of-pocket for most of them, but thankfully our insurance ended up covering the majority of the cost!

My experience with Quest Diagnostics wasn’t as great.  ReproSource’s office is located in a brand new building full of endless glass and windows.  The office for Quest was a crappy little hole-in-the-wall in Billerica, where the phlebotomist was also the receptionist.  So she would be taking phone calls and booking appointments in between blood draws.  It was an office staffed by ONE employee only.  However, the phlebotomist/receptionist that I saw was wonderful.  I held it together for the roughly 15 vials of blood that she needed to fill (nope, not exaggerating), but on the final vial I had an all-out panic attack.  Felt like my whole body was on fire, and like I was about to vomit at any second.  The phlebotomist talked me through it and got me cold compresses.  It took me about 15 minutes to fully recover!

When all of my test results arrived at Dr. Braverman’s office, we booked a phone consultation to discuss them.  He laughed as he said he wished he could find more wrong with me, but almost all of my test results were normal.  (Offff course!)  But one test in particular came back abnormal–my MTHFR.

IMPORTANT IMPORTANT IMPORTANT DISCLAIMER: If you’re looking for an accurate, detailed explanation of these conditions, please consult the following website:


Dr. Ben is a genius and he does a great job explaining MTHFR mutations, their medical implications, and how to treat them.  BUT IF YOU NEED SOMEONE TO TAKE THAT INFORMATION AND SERIOUSLY DUMB IT DOWN, I’M YOUR GIRL!  Just keep in mind that a lot of medical accuracy is going to be lost in my “translation”:

As I discussed in my previous post, everybody has MTHFR (aka Methylenetetrahydrofolate Reductase); it’s part of your DNA.  But not everbody has a mutation of their MTHFR gene.  As I had mentioned, mutations of MTHFR usually fall into two categories: 1) mutations of MTHFR c677T, and 2) mutations of MTHFR a1298c.

Mutations of MTHFR c677T classify as blood clotting disorders, and if you’re diagnosed with a c677T mutation you would be wise to follow-up with a Hematologist.

Mutations of MTHFR a1298c classify as–what I call–“folic acid uptake disorders” or “Vitamin B absorption disorders”.  Basically, your body can’t break down folic acid/folate properly.  That doesn’t sound like such a big deal, but this inability starts a chain reaction that causes other things to go wrong in your body, such as:

1) Your body may not absorb B6 or B12 properly, causing conditions like Chronic Fatigue Syndrome.  Which is why my B12 blood test results were always normal, despite the fact that I had no energy!

2) Your body may not break down those “happy chemicals” in your brain, like seratonin and dopamine–which can cause a whole buncha psychiatric problems, like schizophrenia, depression, and bipolar disorder

3)  Aaaand the chain reaction continues!  Add to that list

  • Fibromyalgia
  • Spina Bifida
  • Autism
  • Autoimmune Disorders
  • Down syndrome
  • Insomnia
  • IBS
  • Heart Disease
  • Strokes
  • Migraines
  • Raynaud’s
  • cancer
  • Alzheimer’s
  • Parkinson’s
  • recurrent miscarriages

Okay, so if MTHFR mutations can be responsible for so many things, WHY HAS NOBODY HEARD OF IT?!  Well, let’s put things in perspective:

Just say you’ve been a heavy smoker for 30 years and you also happen to have a MTHFR gene mutation.  If you’re diagnosed with lung cancer, do you really think it’s the fault of your MTHFR gene mutation?  Doubtful!

Remember–MTHFR mutations cause a chain reaction that may contribute to the health problems listed above.  I have a MTHFR gene mutation (more specifically “Homozygous MTHFR a1298c”, which means I have two extra copies of the gene) and I don’t suffer from migraines or IBS or fibromyalgia.  However, I do suffer from chronic fatigue, depression, autoimmune skin disorders, and (drum roll, please!) RECURRENT MISCARRIAGES!!!

AT LONG LAST, I had the answer as to why I kept miscarrying!  Stupid MTHFR!!!  Knowing that MTHFR could also be the cause of my chronic fatigue was such a relief.  This one condition could explain both of my mystery ailments–recurrent miscarriage and Chronic Fatigue Syndrome!

So what’s the treatment?  Most OB/GYNs who consult with women that have miscarried multiple times, and who have also been diagnosed with this gene mutation, will just prescribe extra folic acid.  Knowing that really, really frustrates me.  Because one of the basic facts about MTHFR gene mutations is that our bodies don’t absorb folic acid/folate properly.  So I could take a boatload of folic acid pills and that doesn’t mean my body’s going to be able to absorb them!  But for some women, dumping extra folic acid into their bodies is all it takes for them to carry a pregnancy to term.  For them, it’s as simple as that!

However, given the fact that I was also suffering from chronic fatigue, I don’t see how popping a bottle of folic acid every day is going to fix that problem.  Because the chain reaction that began with MTHFR meant that, in my case, I wasn’t absorbing B6 or B12 properly either.

Dr. Braverman prescribed me Metan-x, a medication created to treat patients experiencing diabetic neuropathy!


I’m not a diabetic, nor have I ever experienced neuropathy.  But there’s an excellent reason why Dr. Braverman would prescribe me such a medication.  I’ve taken this information from the Metan-x website because their explanation for how the medication works . . . I couldn’t dumb it down even more, no matter how hard I tried.  It’s perfect!


So here are the 3 vitamins that my body isn’t absorbing properly.  Metan-x contains those vitamins in their active forms, meaning that my body can actually absorb them.  Problem solved!


And to show you exactly how common my “folic acid uptake disorder” is, Metan-x includes a startling statistic on their website–up to half of the population can’t fully absorb folic acid!

Believe me, I know I sound like a drug rep for Metan-x, but I’m not making a dime off this write-up.  In fact, I spend $20 a month to fill my prescription for it!  But it’s worth every penny.  Their website says you’ll start to see a difference in about 3 weeks, but that’s for people who are taking it for diabetic neuropathy.  I’d say it took me about a year and a half to two years of taking Metan-x to finally feel free of my Chronic Fatigue.  It wasn’t a quick fix, but in the long run–it was a cure.

In addition to taking Metan-x on a daily basis, I’ve also been taking Nature’s Way Primadophilus Optima Max Potency on a daily basis.  An earthy-crunchy friend told me that she takes probiotics because that helps the body create Vitamin B12.  I brushed her off because I am soooo not an earthy-crunchy person (bring on the McDonald’s, soda, and synthetic fibers!), but from the research that I’ve done, apparently she was right.  Taking probiotics can help your body to produce B12.  I have no links to scientifically back up that statement, but a few years back I suffered from recurrent sinus infections and was on antibiotics for weeks at a time.  I knew how important it was to simultaneously take probiotics to add healthy bacteria back to your intestines; healthy bacteria that the antibiotics had destroyed in their quest to destroy the bad bacteria.  (And yes, I knew to take the probiotic at least 3 hours before or after I took the antibiotic because otherwise they would destroy each other.)  But based on just a few internet articles that I had read, I concluded that my intestines were probably lacking “good bacteria” in a major way!  So I started taking the strongest probiotic I could find, and years later, continue to take it on a daily basis.  This may also be contributing to the fact that I no longer have Chronic Fatigue Syndrome.


As for my fertility issues, I honestly can’t say whether or not the Metan-x has cured them.  Because Dave and I currently aren’t trying for another child.  Life has been extremely challenging since Jack’s autism diagnosis this past March, so I’d say this classifies as a really bad time to be trying for another baby!

However, if I do find myself unexpectedly pregnant (again!), Dr. Braverman wants me to be seen by his office to receive a round of IV treatment that would temporarily lower the number of NK cells in my blood (“NK cells” literally mean “Natural Killer cells”!).  This would keep my body from rejecting the pregnancy.  It’s the same type of treatment they would give to a pregnant woman who was Rh negative, in order to temporarily lower the amount of antibodies in her bood.  Likewise, if she didn’t have the treatment her body would reject the pregnancy.

Now that I’m taking a form of folic acid that my body can more readily absorb, my risk of having another child with Down syndrome should be lower.  The fact that our only child has Down syndrome was the reason Dr. Braverman ordered the MTHFR test in the first place.

One of the saddest moments for me was reading the ER note from the hospital that saved my life (FYI–Lahey Clinic).  They described me as a “31-year-old gravida 4, para 1”.  I asked my sister, who is a nurse, what that meant.  She said it meant that I’d been pregnant 4 times, but had only 1 child.  That realization stung.  Four pregnancies.  Only one child.

So if you know somebody who has repeatedly miscarried, please pass this information along.  It took me a long time to get answers and I don’t want to keep them to myself!


Pink Sweatpants


10 thoughts on “What Doesn’t Kill You . . . Makes You Want to Kill Yourself, Part 4–MTHFR (the conclusion)

  1. I’m Rh neg and they’ve only ever given me shots of rhogam. Is that what you’re talking about? I love that you knitted the blanket with yarn from your 3 grandmothers, but I really love how every time you mentioned MTHFR mutations, I literally heard ‘mother effer’ in my reader voice. so true.

    • Lol, that’s exactly the same thing I think when I see it! My friend Sharon is also Rh- and I thought she had said she was given an IV drip of immune globulins (IVIg) but it could’ve just been injections. I did a quick search on Rhogam and it’s also an immune globulin (Ig). So same idea, different method of getting it into the body? Really not sure. 🙂

  2. Wow. I linked here from the lost and tired facebook page. I really enjoyed reading this. I have PCOS, fibromyalgia and a son with Autism. I took that prescription once long ago but, my insurance would not pay for it so I stopped. It did help some though. I’ve been trying to remember the name of it for a while so I could tell my doctor that I wanted to try it again. Thank you for posting this. I am going to try to get it again! http://www.autism-adventure.blogspot.com

    • Adventures in Autism–the month of August was a NIGHTMARE for me. I was fighting pneumonia (and pneumonia was winnning!) and happened to run out of the probiotic that I take on a daily basis. However, I never stopped taking my Metan-x. Well, guess what? ALL of my chronic fatigue symptoms returned. I realized that THE PROBIOTIC was actually helping me more than the Metan-x. So instead of paying out-of-pocket for Metan-x, go to your local Whole Foods or Vitacost.com and buy a bottle of “Nature’s Way Primadophilus Optima”. Within about a month of taking it, you’ll discover that hmmmm, you’re not as tired anymore. BUT if you’re trying to have another baby, PLEASE PLEASE PLEASE get yourself a prescription for Metan-x. Because your body NEEDS to be able to absorb those B-vitamins properly (including folic acid) in order for your fetus to have the best odds at survival without any neural-tube defects. I love my son to pieces, but I wouldn’t wish his endless number of diagnoses on ANY child.

      • Most of what you mention is slrgpisinpuy precise and it makes me wonder the reason why I had not looked at this with this light before. This particular article truly did switch the light on for me personally as far as this specific subject matter goes. However at this time there is one particular factor I am not necessarily too comfortable with so while I make an effort to reconcile that with the actual main idea of your issue, permit me observe just what the rest of your visitors have to say.Well done.

  3. Oh and by the way, I believe that prescription is a methyl form of those nutrients. Know what, biomedical doctors treating kids with Autism, often check for a cerebral folate deficiency (not sure if I said that all correctly). They often supplement them with the same form of those nutrients that can now be purchased over the counter or from a compounding pharmacy.

    • Dr. Ben describes MTHFR disorders as being methylation issues, so I believe you’re right. His website is an INCREDIBLE resource that is far more accurate than mine! My son sees Dr. Skotko at the Down Syndrome Program at MassGeneral Boston and he just ordered a boatload of bloodtests to check for other conditions that could be the cause of Jack’s autism: plasma amino acids, plasma acylcarnitines, urine organic acids, urine acylglycines, Fragile X, and microarray. Don’t quote me on this, but I believe he said between 30-40% of the time they can discover the root cause–or perhaps contributing factors–to the autism. I told Dr. Skotko that I wanted Jack tested for MTHFR and he said that Jack’s test for plasma amino acids would show whether there was a need for the specific MTHFR test. Dr. Skotko said that when the plasma amino acids aren’t working properly, it will affect the body’s levels of methionine, homocysteine, and cysteine. If Jack’s plasma amino acids show any disturbances, then he would order the MHTFR test.
      The tests take 3 months to come back and if Jack’s plasma amino acids come back ‘normal’, I’m going to push for the MTHFR test anyway. I truly don’t know anything about methionine or cysteine, but I do know that homocysteine levels are likely to be ‘normal’ in those of us who have MTHFR a1298c. Mine were. But Dr. Skotko’s a genius so I’ll trust his insight and we’ll see what the results of Jack’s tests are in a few months.
      But if anything comes back ‘abnormal’ and there’s a vitamin or nutrient that can help correct the abnormality, I have no doubt that Dr. Skotko would recommend it. We shall see!

  4. Thank you for your amazing post. I’m
    48, have 2 children and have been experiencing chronic fatigue and depressive symptoms. I was just diagnosed with the MTHFR mutation C677T (two copies). I am seeing one of several doctors tomorrow. I’m wondering if you have suggestions on getting the B12 shot with the right form of folate my body can use vs orals. I have heard too high of doses can cause increased irritability and anxiety. I can’t take any more than I have. I’m open to any and all suggestions and since I’m not in child bearing mode any longer, I’m hoping there’s an easier solution.
    Appreciate your thoughts very much.
    Best, Renee

    • Renee, I’ve actually had the same question myself. My depression and chronic fatigue symptoms have come back with a vengeance and are only now starting to lift eeeever so little. For me, I think the cause may be severe Seasonal Affective Disorder, which I’ve never properly treated with Vitamin D, a light box, etc. I was wondering about possibly increasing my Metan-X from once a day to twice a day, but even if my doctor thought it was a good idea that would set us back $70 per month. So I purchased the Metan-X ingredients separately from Vitacost.com (Pyridoxal-5-Phosphate, 5-MTHF, and Methylcobalamin), which costs next to nothing by comparison. However, the Methylcobalamin–which is sublingual–takes FOREVER to dissolve. I’m not happy with it. So I’m looking into purchasing liquid Methylcobalamin instead. I’ve also wondered about B12 shots, but I need to do some research to see if my body would even be capable of absorbing the shots properly. Just like people with MTHFR should take L-5-Methyltetrahydrofolate instead of your standard Folic Acid, I’m wondering if the same holds true with B12 injections versus Methylcobalamin. As for increased irritability and anxiety with excess B-vitamins, I would need to do some research as well. I WILL say that I’ve been having stomach aches since I discontinued the Metan-X and began taking the supplements individually. I’m not sure if this is a fluke or not. So I’ll have to research that too. Basically, I need to do A LOT of research! I wish I had some answers for you, but I’m still trying to figure out this whole complicated mess for myself as well. 🙂

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