WARNING: THIS IS AN EXTREMELY LONG POST, AND UNLESS YOU’RE SUFFERING FROM FERTILITY ISSUES, OR KNOW SOMEONE WHO IS, YOU MAY WANT TO SKIP IT.
What the what is MTHFR?! Well, in this series of articles I’ve written about rare medical conditions, I’m going to tell you about MY rare medical condition. More specifically, about my extremely common medical condition that happens to be rarely diagnosed. A person could go their entire life with a laundry list of mystery ailments without a doctor ever concluding that all of those ailments could be explained by one great big “umbrella diagnosis”–MTHFR.
I’m a dork. I’ve always been a dork and will always be a dork. For a few years of my life while I was in high school, my weirdness was readily accepted because my physical appearance didn’t match my level of dorkiness. I wouldn’t say that I was popular in high school, but I was well-known and well-liked. High school was my Mona Lisa; everything since has been my Waterloo.
I remember while I was in middle school, we somehow came into possession of this horribly tacky rainbow-colored umbrella that belonged to my grandfather. When opened, the umbrella was embarrassingly huge. The perfect rainy day accessory for a dork of my caliber! And so at 12 years old, I lied to myself in a major way and carried that stupid umbrella with faux-pride: ‘Yeah, I totally don’t care what people think of me. And to prove it, I’m going to walk to the bus stop with this umbrella that all but GUARANTEES social suicide for its beholder.’ And so I did. I don’t remember if the kids at the bus stop made fun of me or not (I’m sure they did), but every.single.last.one.of.them fit under that stupid umbrella. (And in celebration of my dorkiness, I’m going to finish that last sentence with an “Ella, Ella, Eh, Eh!”) No matter how gigantic my middle-school umbrella was, I’m still not sure it was big enough to contain all of the symptoms that can occur with a MTHFR mutation. Because the list is seemingly endless.
So what is MTHFR? MTHFR stands for “Methylenetetrahydrofolate Reductase”. A name that doesn’t exactly roll off the tongue. But despite the fact that you probably don’t know how to pronounce it, you still have it. Everyone does. It’s part of our DNA.
Mutations of MTHFR are extremely common. Typically, these mutations are separated into two subgroups: 1) Mutations of MTHFR c677T, and 2) Mutations of MTHFR a1298c. The symptoms of either mutation may wildly differ, BUT both can cause fertility issues, including repeated miscarriage. And THAT is the reason my MTHFR mutation was discovered: because I had multiple miscarriages and I was NOT about to accept some doctor telling me that the number of miscarriages I had endured was somehow “normal”.
I use the word “endured” for a reason. For me, I was able to immediately accept each miscarriage and move on. That’s not normal. For a lot of women, every miscarriage is devastating and can lead to a serious bout of depression. But I had a son with Down syndrome and autism to take care of; a son who was constantly sick with sinus infections. So every miscarriage seemed life a relief of sorts, because my life was so hectic. That doesn’t mean I didn’t (and still don’t) truly want a second child; it just meant that I no longer had to worry about breastfeeding a newborn while caring for a hyperactive 5 year-old who was still in diapers.
Regardless of how detached I may have been from the pain of each of my miscarriages, I wasn’t about to accept those miscarriages as “a fact of life”. Bottom line: If you’re able to easily get pregnant, and yet you miscarry repeatedly, something is wrong. Don’t let a doctor tell you otherwise. Don’t let a doctor convince you that all you have to do is just keep trying! And if that’s their recommendation, find yourself a new doctor IMMEDIATELY.
In my former life (aka before I had my son with multiple special needs), I was a medical secretary. Now, if you happen to be employed in the medical field to any degree (whether you’re the medical assistant who changes diapers in a nursing home or if you’re a brain surgeon who cures children of brain cancer), you develop a God-complex to a varying degree. For instance, surgeons are notoriously self-absorbed. They are far more high-maintenance than your average doctor who spends his day diagnosing people with infections ranging from yeast to sinus. But if you’re a medical secretary or a medical assistant, you grow accustomed to receiving phone calls about the same ailments day-in-and-day-out. To the point where, if you’re taking the phone call of a woman who says she’s coughing up green mucus and she has sinus pressure, you just want to skip “the middle man” and call her in an antibiotic for a sinus infection. But you can’t. Because you’re not the one with the medical or nursing degree. And so you send her message up the food chain, knowing full well that a nurse (not her doctor) is going to 1) call her back and, 2) ask her questions about her symptoms (the same exact questions that you’ve already been trained and instructed to ask her . . . which she’s already answered . . . the responses to which you’ve already written down for the nurse to see!) and then 3) book her to see–most likely not her doctor, but instead a nurse practitioner, who will (AT LONG LAST) 4) give her a presciption for the exact antibiotic that you wanted to call in for her when you first received her call around 8 HOURS EARLIER!!!
And that’s how the medical field works. About 99% of the time, a patient who calls with green mucus and sinus pressure is simply suffering from a sinus infection. But that 1% of the time . . . it’s a horse of a different color; it’s something that you, as a medical secretary or a medical assistant, have never seen before. It could even be something that you, as an OB/GYN or a Neurosurgeon, have never seen before.
In previous posts, I’ve told you about my friend Denise, who has Ehlers-Danlos Hypermobility. Do you know what animal the Ehlers-Danlos community has chosen to represent their rare condition? A zebra. Not a rare animal that you’ve never encountered before, like a wooly mammoth or a saber-tooth tiger (yes, my son’s been watching a lot of Ice Age lately). But an animal that you can see at any zoo or wildlife park.
Now imagine that you’ve been invited over a friend’s house to watch the Superbowl. During half-time, a Budweiser commercial airs–a company famous for its gorgeous Clydesdale horses. The commercial begins with the sound of hoofbeats galloping across a frozen prairie. You’re anticipating the sight of those beautiful horses, their manes flowing in the cold breeze. But then the camera pans out, and instead of seeing majestic Clydesdale horses galloping across a frozen prairie, you see a herd of zebras, their dark manes flowing in the warm African wind, galloping across a desert wasteland.
Wouldn’t you be confused? Why? Because you expected to see horses, not zebras. THAT’S the message of which the Ehlers-Danlos community is trying to remind the medical profession: Yes, 99% of the time those hoofbeats are going to belong to a horse. But there’s that 1% of the time those hoofbeats are going to belong to a zebra. Not everybody has a diagnosis that can fit into a neat little box. Be willing to keep an open mind and admit when you don’t have the answers. Then either search for an answer or refer your patient to someone who is more qualified to help them.
At the same time, I feel for medical professionals. Patients who come in complaining of headaches or pain or dizziness present a challenge because you can’t see their pain. After all, the majority of your patients ARE NOT going to be Massive Head Wound Harry! A lot of times you’re taking sombody at their word that they truly ARE experiencing pain, especially when their bloodwork and diagnostic testing all come back “normal”.
And that’s what had happened to me. For decades, I had been a low-energy person who could sleep the day away, but over the past few years I began to experience fatigue that became debilitating. Some mornings, after a good night’s sleep, I’d have to skip running errands because I was afraid of what could happen if I got behind the wheel of a car.
I had allergy testing done, which all came back normal (despite the fact that I definitely have Non-Celiac Gluten Intolerance and an intolerance to dairy), I had thyroid testing (all normal), a cortisol stimulation test to check for adrenal disorders (which landed me in the ER when I had a bad reaction within 5 minutes of the cortisol injection, but yet the results of the test were still normal), a sleep study (which ended up costing us a small fortune!), vitamin D level tested (borderline low, no big deal), vitamin B12 level tested (normal), an iron profile (normal).
And so my psychiatrist increased my dosage of antidepressants in a BIG way, hoping that the fatigue was simply depression-related. Nope! Instead, I started going downhill fast. All of the extra medication in my system left me with no appetite (which was a great way of getting back down to my high school weight real fast!) and–shockingly–even less energy than before. On top of it all, I now couldn’t climb up a flight of stairs without experiencing leg pain and shortness of breath. I was falling apart! My poor husband was constantly getting calls from me while he was at work, begging him to come home because I was too tired to watch our son. There were times he could rearrange his schedule to work from home, but I knew what I was asking of him was unreasonable. I was just . . . THAT . . . tired. On the days that he couldn’t do so, he would get home at around 5:00, 6:00 pm and I’d be on the couch practically in tears from exhaustion. I started going to bed every night at 7:00 pm, while he watched Jack for the rest of the evening. And I would sleep until 7:30 the next morning, then wake up knowing that I had about an hour or two TOPS before the fatigue set in again. And then I would spend the rest of the day while Jack was in school, sleeping some more. Around 3-5 hours more. Every day. The weekends were a disaster. Dave rarely got a break. I told him that we just had to accept this as our new reality. There was nothing else I could do. I knew the only thing the doctors could do now was to give me a diagnosis of Chronic Fatigue Syndrome, which I felt was an insult to people who truly suffered from Chronic Fatigue. I accepted the diagnosis because there was nothing else I could do, but I never felt that’s what I had. I KNEW it was something other than Chronic Fatigue Syndrome; meanwhile, everybody else thought I just needed to suck it up and move on. The doctors–they could tell me that all of my test results were fine, but I had PROOF that everything was not fine. And that “proof” is what kept me sane during those times. People could say whatever they wanted to say about me behind my back, but my miscarriages were the one thing that couldn’t be chalked up to laziness or depression or Chronic Fatigue Syndrome.
Jack is our first and only child. Jack was my first pregnancy, a pregnancy that resulted in the birth of our beautiful son in 2006. Our beautiful son with Down syndrome. Jack has continued to collect more diagnoses over the years 1) autism, which came complete with Sensory Processing Disorder, ADHD, and anxiety disorder, 2) Hashimoto’s Thyroiditis, a standard thyroid disorder in children with Down syndrome, 3) Celiac Disease, again–another standard disorder in children with Down syndrome, and 4) chronic sinus infections, a condition that seems to be Jack’s alone! But Dave and I never wanted Jack to be an only-child; we definitely wanted a second child. And so (before Jack’s autism diagnosis) I got pregnant again in 2009 . . .
. . . and miscarried at 5 weeks pregnant. Then I got pregnant again in 2010 and miscarried very early on (I’d say it was technically “failed implantation” because I wasn’t far along enough to get a positive pregnancy test, but–from experience–I knew I was pregnant. And for two weeks following that pregnancy/failed implantation, . . . I was left with no doubt that I had been pregnant.
Pregnancy #4 came as a TOTAL shock, since my husband and I had been actively “taking measures” to ensure that I didn’t become pregnant. But what can I say? I’m white trash and I’m Irish–now THAT’S a combination for pregnancy success! I guess I realized pretty early on that I was pregnant. Again, from past experience, the second I’m far enough along to get a positive pregnancy test, my abdomen immediately swells up like a balloon. The swelling dies down after a few weeks, but by the time that home pregnancy test comes back positive, I’m already too swollen for my regular clothing. At first, I just chalked up the swelling to the fact that it was “that time of the month”. But something else was odd–my period had been really spotty and in the midst of it, I experienced a pain so excruciating that it literally brought me to my knees. On the living room floor. Crying in pain. That’s how painful I remember my periods being as a child (I was “fortunate” enough to get my period at age 11), so I just figured this was a particularly painful period. I didn’t give it much thought because, after all, I had a hyperactive child with Down syndrome to take care of! That night, over the course of around 4 hours, I had taken something like 8 Motrin and 3 Motrin PM. And finally I experienced enough relief to allow me to fall to sleep. The next day, I started putting 2 + 2 together: unusually light period + major abdominal swelling + excruciating abdominal pain from the night before . . . yep, that = a positive pregnancy test. I was shocked. I ran into the room to show my husband the positive test and he (also in total shock) said ‘Well what do we do now?’ I told him that I knew what my “light period” meant: I was pregnant and in the process of miscarrying. Been there, done that several times. No doubt in my mind. I’m miscarrying again. And we need to go to the ER right now.
I will remain aloof about the details of my ER visit, since I hope to have a lawyer sort things out with that hospital in the very near future, but the bottom line–my tests showed that I was still pregnant. And a follow-up blood test showed that my numbers were climbing–I definitely wasn’t miscarrying! But I knew better than to get my hopes up. I referred to the pregnancy as “the fetus”, not “our baby”. Because I knew something was wrong. If the pregnancy had progressed, you’d better believe that that child would’ve been loved and WANTED, but my gut told me that wasn’t going to happen. And I was right.
The OB/GYN with whom I followed up after my trip to the ER continued to monitor my blood count. A second follow-up blood test showed that I was, in fact, miscarrying. She apologized for being the bearer of bad news, but she told me about certain symptoms that I could potentially experience, and said that if I was to develop those symptoms I should head to the nearest emergency room. And so a week from my original ER visit, while I knew I was in the process of miscarrying my 4th pregnancy, I found myself, again, in too much pain to sleep. I tried to lie on the couch and watch TV, but I couldn’t find a position that didn’t hurt. So I was forced to attempt to fall to sleep while watching TV in an upright, seated position. But still, I was in too much pain to sleep. And I was getting frustrated and annoyed because, even in a seated position, I couldn’t find a comfortable position for my arms. They just hurt so much. And that’s when I remembered some of the symptoms that the OB/GYN’s office had warned me about. ‘Hadn’t she mentioned shoulder pain? Didn’t she say that if you experience shoulder pain you should immediately go to the ER?’ And so I grabbed my iPad and did a search for “miscarriage” and “shoulder pain”. The results that appeared all pointed to one conclusion: I was experiencing an ectopic pregnancy that had possibly ruptured. And the cause of the shoulder pain? That would be blood pooling in my abdomen, irritating nerve endings that connected to my shoulders, causing shoulder pain. Basically, I was bleeding internally. I needed to get myself to the ER.
I still didn’t grasp the gravity of the situation I was in. I woke up my husband at around 5:00 am and told him I was going to drive myself to the ER. And definitely not the same ER that I had been seen at a week earlier. Dave didn’t feel comfortable with me driving myself to the ER, so he told me that he would drive me to the (other) ER. And yet, I was so concerned with making him miss work, so I told him that I’d be fine as long as he just drove me to the ER and dropped me off. Then he could go to work while I waited to be seen (for what I assumed would be hours on end), and he could just pick me up when I had been given a prescription for pain-killers or something.
By the time Dave dropped me off at the front doors of the ER (while he parked the car, because he refused to just drop me off), I couldn’t even stand upright. I was in too much pain. So I walked into the ER, bent in half, and told the receptionist that I thought I was miscarrying and I needed to be seen because I was in a lot of pain. I can’t even begin to tell you how grateful I was to discover that I was the only one in the waiting room!!! (Aaaand that’s why you should ALWAYS go to a suburban ER instead of a city ER!!!) They brought me back to see the doctor in no time at all. At that point, I knew that I was suffering from an ectopic pregnancy. I just KNEW. But I didn’t want to come across as some dramatic, overreacting, hysterical female patient suffering from a miscarriage, so I remained quiet about my suspicions. The doctor told me that there was a possibility that I was suffering from an ectopic pregnancy, but that it was highly unlikely. I remember him saying that I would be ‘a whole lot sicker’ if I was suffering from an ectopic pregnancy, and that ‘my color would be much worse’ if it was truly an ectopic pregnancy. But he ordered an immediate abdominal scan, just to be sure.
I remember the ultrasound technician taking a ridiculous amount of pictures from my scan. She was typing and hitting buttons on the keyboard feverishly as she moved the wand around my abdomen. I thought to myself ‘This isn’t good. It’s an ectopic. YOU KNOW it’s an ectopic. Doesn’t matter how the ER doctor expects you to be acting, or what he thinks your coloring should be. YOU KNOW it’s an ectopic.’
And so the technician concluded photographing my abdomen as if she was a frenzied member of the paparazzi at Brangelina’s wedding, and sent me back to the ER. And back to Dave, who was waiting for me to return. Dave, my husband–who told me he was never going to just drop me off at the ER and go to work. He stayed by my side through the whole ordeal. Because we were in this together. (Yep, getting sentimental. Which is a good thing, because it just makes me appreciate my husband that much more. Want to know what my father said to my mother when she called him 34 years ago to tell him she was in labor with me? ‘Call me when you have the baby.’ And he continued to work, doing who-knows-what–with his dump trucks and his dozers and his rock crusher–in New Hampshire. No doubt, for some buddy that he owed. I don’t say this out of bitterness; I say this out of gratefulness. I LOVE my dad, flaws and all. LET ME REPEAT THAT–I DEEPLY LOVE MY DAD, FLAWS AND ALL. But by marrying Dave, I broke a pattern that had been set before me. A pattern that had existed for several generations! And despite it all, I managed to marry a truly incredible guy. Now that’s a really, REALLY good reason to be sentimental. And grateful.)
When the doctor returned with the results of the ultrasound–despite telling myself that I KNEW it was an ectopic pregnancy–I was still surprised when he told us that I had a ruptured ectopic pregnancy. That I was ‘bleeding internally’. That I needed to have ‘EMERGENCY surgery to remove the pregnancy’, and ‘most likely the tube that it had ruptured as well’. I started crying my eyes out. Not because I was upset, but because I had been RIGHT! I had already accepted the fact that “the fetus” was not going to be viable. Had my instincts told me that “the fetus was viable”, at 6-weeks pregnant I probably would’ve already chosen his/her name! But I knew better. For the sake of my sanity (and the sake of our son that so desperately needed me), I let go of my dreams that this pregnancy was going to continue to term. I let go of my dreams and grasped onto reality.