The M'er F'er Gene Mutation

I didn’t hate the physical. In fact I beamed with pride when the doctor exclaimed with surprise and glee, “Wow! Great reflexes” after he pounded lightly on my right knee. No sooner had I imagined a glorious future that included trapeze swinging, sparkly costume wearing and a multitude of squirming children under one arm, did I fail to barely register the second knee tapping. I sighed. I am like that. If some wondrously unexpected thing happens (yes, at this point, with my body failing, this constitutes, “wondrous”) I know not where or when or how it came to be and then . . . nothing. I am totally, and absolutely, inconsistent. I am, the One Hit Wonder. The doctor quickly moved on to the squishing of the breasts and the pressing of the stomach. The doctor was somewhat dismayed at the many layers of hospital gown I had wrapped myself in, “You’re really kind of tied up in there, aren’t you?” I prefer a little mystery doctor, don’t you? Then he asked me to slide my feet into the stirrups and when the lights were dimmed, the disco ball spinning and the sonogram machine buzzing, I noticed that there was a somewhat strange formation, elliptical and light colored on the back of my uterus. He looked at it from several different angles, took pictures of it, highlighted it, measured it. But back in his office, he didn’t mention this strange little formation but instead discussed my somewhat enlarged left ovary that looked ready to release an egg ANY MINUTE, which he indicated was a bit strange, considering where I was in my cycle, but not altogether unheard of. I got the impression that I was supposed to be overjoyed by the knowledge that this particular ovary, the left one, was about to release an egg. As this egg is going nowhere, I don’t know how I could be anything but, well, neutral. He asked if I had the blood work done and I said that in fact I had and so that was that.

The next day was the dreaded sono-hysterogram, which had me popping ibuprofen left and right in preparation for the lovely cramping. All in all it wasn’t awful, but it wasn’t altogether pleasant either. It was the insertion of the catheter that had me trying to levitate off of the table. It was a pain that I can only describe as a long drawn out note on a high octave, which I later related to nerve pain, although I understand that there are no nerves in the cervix. This little bit of information is from my sister, however, who is able to slide children out of her own uterus with barely a cough and a sneeze, so take it as you will. For those few moments that I was not grimacing, I caught a glance at the sonogram screen with its tiny droplets of colors dancing about, moving here and there in conjunction with the wand and it really was, for a moment, if not exactly pretty, interesting. Strange, cavernous, swooshing sounds kept emanating from the machine. When I asked the sonogram tech what exactly those sounds were, she squealed with delight, telling me that the sound was coming from my ovaries and that it meant they were ALIVE. As she continued to move the wand and take pictures, she told the doctor about her great fascination with reproductive medicine and her astonishment at some of the procedures being undertaken in order for people to have children. The doctor mentioned the recent approval of womb transplants. She laughed, nudged me conspiratorially and said, “Can you believe what a hot commodity a uterus is? Aren’t you glad you have one? I mean, I’ll tell you why people do this stuff, desperation. They are desperate! Isn’t that crazy?” She looks at me. The doctor shifts uncomfortably. I realize that she likely knows nothing about me. That she was just scheduled to go in, move the wand around, tell the doctor to push in more saline, and take a few pictures of my uterus, the endometrial lining and my ovaries. I realize that she doesn’t really know that I could very well be on my way to being one of those crazy desperates. But then she spots the strange formation on the back wall, and they discuss what it could possibly be. It could be a fibroid. Then again, she says, it could be left over from the . . . and she trails off. The embryo. It could be from the embryo. Afterwards, after I had had a chance to throw my clothes back on in the dark of the room, my doctor came back in and told me a little bit about the spot on my uterus, what it could be, what they will do about it, etc. He was far more interested, however, in telling me about the results of my blood work. I am positive for MTHFR. He mentioned that I have a fairly rare type, a duplicate of the duplicate or some such incomprehensible thing and that, although I deviate slightly from patients with the MTHFR gene mutation that he sees, he will treat me the same. I will have to take a folic acid (and Vitamin B-12) supplement. I have since read countless studies and reports of a connection between the MTHFR gene mutation and miscarriage. It seems incredible that something so simple like adding a supplement could change my pregnancy outcomes for the better but apparently, it just might be true. When he told me how my particular gene mutation is more rare and more strange, I said, “Well, I always wanted to be special!” Which sounded funny internally, but really, sounded kind of pathetic once it was uttered. At any rate, Monday I will have the endometrial biopsy. Then, I hope, we will sit down and discuss all the results and my options.