Rarely a day goes by when I don’t think of the little boy I lost last October 2008 due to a miscarriage at 19 weeks. I’ve never been through such a painful time in my entire life. I honestly don’t know what I would have done had my husband not been scheduled to come home that afternoon. As horrible a time this was for us, we can only now see the significance of how horrible this truly was after having become pregnant a second time the following March.

I do have regrets. Some I had control over and some I did not. I wish I would have held the baby. I wish the hospital and my doctors would have done more. I left the hospital the following afternoon without a single answer as to what might have happened. Miscarriages are common among all women seemed to be the only answer I’d gotten from anyone. I knew this, but I also knew that what they were referring to were first trimester miscarriages. Those are indeed common, but going into labor without any symptoms of miscarriage and then delivering and subsequently losing a 19 week old baby was not common.

No answers came of my follow-up appointments, either. Because they could find nothing wrong with the fetus or the placenta, my doctor attributed it to cervical insufficiency. She told me that my cervix was just not strong enough to hold the baby after a certain weight and consequently I miscarried. She told me that I would need to be closely monitored throughout subsequent pregnancies and perhaps have my cervix stitched up in order to strengthen it (cerclage) after I became pregnant again, if I were to try again. This wasn’t exactly the answer I wanted, but it would have to do. We were heartbroken because there was a chance I’d never be able to carry a baby to term. I felt inadequate as a woman. I felt as though I could not even perform my sole purpose in life.

I did become pregnant again, only 5 months after I miscarried, in March of the following year. You can only imagine how nervous we were. It was a bittersweet feeling. We were excited, but at the same time, could not become too hopeful in an attempt to protect our emotions in the event something would go wrong with this pregnancy.

Things had been difficult from the start. I had my first prenatal visit at about 6 weeks. Even setting up this appointment was not an easy task. I was told that they did not see newly expectant mothers until 10+ weeks. I didn’t want to hear this. After having waited until about 16 weeks with the first pregnancy before I saw a doctor (due to not having healthcare at the time) and then having the miscarriage at 19 weeks, I told the receptionist that I needed an appointment ASAP. She finally worked it out for me and got me in.

Naturally they could not do much at the first appointment. I had an ultrasound done which didn’t show much but a yolk sac, got a prenatal vitamin prescription and was told to come back in a few weeks. I was just happy to know that I got things started early this time since that would give me a greater chance of finding any problems that may arise in the future. I had no idea what could have been prevented had I gone to the doctor earlier in the first pregnancy and wanted to take all the steps I could to ensure that this pregnancy was a successful one.

I had another appointment at around 11 weeks where they did an ultrasound and an assortment of measurements of the fetus along with a cervix measurement. They told me that the baby had an NT measurement of 1.4 (measurement of the fluid at the back of the baby’s neck – can be associated with disorders such as Down’s Syndrome) and that my cervix was shorter than it should have been at the time. My doctor recommended I see a specialist within the next week for my cervix. She also talked to me about a two-part blood screen that would assess my risk of having a baby with genetic defects such as Down’s. We decided to do the screen and the first blood sample was drawn this day. I was told the results would be in in about a week.

The specialist appointment was also a hassle to set up. After having to wait several days for the office to call back about the appointment, they would then not allow me change it. They insisted I go on some day that my husband could not be present or I’d have to wait several weeks to be seen. Of course I was mad. I’d already lost a baby due to cervical insufficiency, was heading to the specialist because of a shortened cervix and they expected me to go alone on a day when my husband was on a trip or wait a few weeks for the next open appointment. I’m sorry, but that was not going to happen. Thankfully, after about 4 hours on and off the phone with them, Ryan convinced the woman to just let us come in one day when he had off and fit me in for an appointment.

I was 12 weeks at the time of this appointment. They checked my cervix, which looked completely normal (what a relief), and did a bunch of other measurements on the fetus through ultrasound, including the same NT measurement that was taken at my OBGYN the previous week. The doctor then discussed cerclage with us. Since my cervix seemed to be nice and long, we decided against it for the moment and instead opted to just go through with biweekly monitoring of my cervix along with pelvic rest. We both felt relieved. That is, until the specialist dropped yet another, much larger, bomb on us. This time the NT measurement was 2.9. With an upper limit of 3.0, this was on the bad end of the normal spectrum and could possibly mean that my baby have a higher risk for being born with Down’s. If we thought the cervix issue was bad, this was 100 times worse. The specialist then discussed the genetic blood screen with us in order to make sure we were doing it, which we were and already had the first part done.. He also discussed CVS and amniocentesis with us as ways of actually diagnosing Down’s, but there was a trade-off – both tests were quite invasive and carried somewhat high risks for miscarriage. Miscarriage was exactly what we were trying to avoid by going to this specialist.

We left the office heartbroken. I had a hard time keeping myself composed in his office and finally broke down in the car. All we wanted was a healthy baby and it just seemed as though one bad thing after another had been thrown at us from the beginning. The only thing we could do now was wait for the results of the first blood screen. If those were to come back abnormal, CVS or amnio might be worth it. We spent the following days researching everything we could about the NT scan, Down’s, CVS and amnio. Truthfully, I felt somewhat relieved with the new information I’d found, but wouldn’t feel truly relieved until I got the results for that blood screen.

Ryan had been gone on another trip when I called the OBGYN about those results. Every time I call this office for something, I’m either put on hold for a long time, told that someone will call me back or both. Naturally no one called back that day (this also happens quite often). Once Ryan came home, we decided to just stop by and try to talk to someone because I was sick of waiting days for someone to call. We didn’t have to wait very long before we were able to talk to a nurse. She showed us the results and they were absolutely normal. But upon closer look, Ryan saw that they had used the normal 1.4 NT measurement rather than the 2.9 measurement, which could have thrown off the ratio. We were quite annoyed by this, but okay, we thought, maybe they’d use the 2.9 measurement along with the second blood screen which would give us the full, accurate results. I was just relieved to know that all of my hormone levels were normal. Had some been elevated or lowered, there would be more risk for Down’s. Knowing that the only thing off was the 2.9 was kind of a relief.

At 14 weeks, I had an appointment with the specialist again. This appointment was relatively uneventful in terms of receiving bad news. Cervix was long and strong, baby seemed to be developing normally and we found out it was a boy. We discussed the first blood screen results with the doctor, as they had never received a fax from the OBGYN (even though they’d told us two or three times that the results were faxed). He seemed to not be worried so much since my hormone levels were all as they should have been. We discussed CVS and amnio again, but decided to wait until the second screen results came in before we made any decision.

I had an appointment with my OBGYN sometime after this and mentioned the 2.9 to my doctor, asking why it was not used instead of the 1.4. She seemed to think there wasn’t an issue and simply told us that “he’ll grow into it”. For some time I’d begun doubting the things she’s told me, but after hearing this, I lost all hope in her and pretty much disregarded anything she said, which wasn’t much anyway. This wasn’t something he would simply “grow into”. We knew that and we didn’t go to school for years in this field…

I cannot remember exactly when, but at some point a month after I had the first blood drawn, I had the second round of blood taken for the screen. Naturally, it was a hassle getting the results back. Another week and a half went by and I heard nothing. Calling again resulted in me having to wait to be called back. Just as I didn’t receive a call the first time, I didn’t receive one this time and Ryan and I had to go in again and talk to a nurse. Angered when we saw the same 1.4 measurement used, we really began to wonder why they would not use the 2.9, especially since we brought it to their attention after we’d seen the first set of results. This nurse told us that they could not use the 2.9, even though it was the more conservative of the two numbers, because it had not been measured at their office and that if we wanted the 2.9 measurement to be used for the risk calculation, we would have had to have blood drawn at the specialist’s office the same day the measurement was taken. We were furious What was the point of having this screen done if they weren’t even going to use the “bad” measurement? Now it was too late to go back and do anything about it because the NT measurement isn’t accurate after 12 weeks. Someone dropped the ball here. Why did the specialist not know to draw blood back when they measured 2.9? Why did he simply ask us if we’d been going through with the screening rather than drawing blood himself? Something didn’t add up and there was nothing we could do about it now. We felt hopeless. The only thing we could be thankful for was that my hormone levels were all normal once again. With the 1.4 measurement, our chances of having a Down’s baby were 1/1300, which is very, very low. But how much would that change had they used 2.9? We’d never know. Now that CVS was out of the picture since I was no longer in my first trimester, we had no idea whether or not to do amnio. Was it worth the 1/300 risk of having a miscarriage for a 1/1300 risk of having a baby with Down’s? I didn’t think it was worth it at the moment, but I was going to have a huge anatomy ultrasound done at the specialists office at 16 weeks. If things came up looking abnormal then, we’d go through with the amnio.

At 16 weeks, I went in for the long, drawn out ultrasound. They checked everything on the baby from the head, brain, spine, arms, legs, heart, kidneys, stomach, bladder, placenta, umbilical cord and probably a whole slew of other things that I can’t remember. They even did what seemed to be an EKG of his heart. Everything looked completely normal. We were especially thankful that the heart was developing normally, as babies born with Down’s Syndrome usually also have heart defects. At that particular moment, it looked like we had nothing to worry about. My cervix still looked wonderful. No sign of any shortening. As of right now, amnio was still out of the picture.

At 18 weeks, everything continued to look perfect. Baby developing normally, cervix still nice and long. It seemed as though all the problems we’d been having had fixed themselves. I really was no longer worried about cervical insufficiency and the risk of Down’s didn’t seem high enough anymore to be worried about that, either. This was a good period for us and was probably the only period where we got to relax a bit with this pregnancy so that we could enjoy everything. The only unknown as of right now was the baby’s face. This was not too big a deal, however, because I had another appointment the following week because we’d be moving up to Massachusetts and did not have an appointment with an OBGYN up there until the 11th of August. So I wanted to get in one more time with the specialist otherwise I’d be going three weeks without being seen by a doctor (I’d been going every two weeks up until now).

It was 19 weeks 2 or 3 days when I last saw the specialist. They were finally able to see the face, which also looked normal. And as you could have guessed, my cervix was normal, too. I was relieved to know that everything would be okay before we made the 24 hour drive to Massachusetts. I felt like we had nothing to worry about anymore, especially since 19 weeks was as far along as I’d made it with the previous pregnancy. I felt like I’d reached a milestone and would be good to go from here on out. Little did I know that that would not last past the appointment I had on the 11th.

I met with my new doctor on the 11th. I was 21 weeks and a day or two at the time. Most of this appointment was spent going over the medical records I’d carried up with me (I sure as hell didn’t trust those two offices in Memphis to fax my records). To put it simply, he really didn’t even know what to say. He could not believe how unorganised everything was and that was only the least of what he couldn’t believe. He also could not believe they did no further testing of the fetus or placenta after I miscarried. He could not understand why there was no genetic test done on the baby or no blood test done on me to possibly pinpoint a cause. He understood that this happening at 19 weeks was not normal and that there HAD to be a reason for it. He seemed more worried about this than the whole “history of cervical insufficiency” crap the previous office down south could not let go of. “I’ll tell you right now, you do not have cervical insufficiency,” he pretty much told me verbatim. He ordered a whole range of blood tests for me and when I got to the lab and saw 15 vials all lined up, I could not believe they were going to fill all of those with blood from only my arm. I honestly didn’t think I’d be able to walk out of there.

We felt good when we left his office. Even though he seemed to be more concerned about my miscarriage than my current pregnancy, we were glad to know that someone was finally trying to get to the root of all of this. We felt very confident in what this guy was doing and everything he had told us. It was refreshing to actually be able to talk to someone who actually seemed to know something.

Not even a week after my appointment, I got a call from the office regarding my blood tests. I was told that I had two MTHFR gene mutations, that my homocysteine levels were normal, that I should take one baby aspirin daily and that she was going to set up an appointment for me with a specialist. Okay, I thought, while I hung up the phone. The woman I talked to didn’t even give me a chance to digest what all of this meant. Thankfully I’d written everything down. Now I had to do some research. What was MTHFR? Homocysteine? Why was I taking baby aspirin? Why was I going to a specialist? Again?

MTHFR stands for methylenetetrahydrofolate reductase which provides instructions for the production of an enzyme by the same name. Apparently it is quite normal to be homozygous for a mutation, but not so to be heterozygous. Naturally I have to be heterozygous. This enzyme is important in a reaction that turns the amino acid homocysteine into methionine and somehow folic acid is involved (I’m no biochemist anymore so forgive me). There are two main problems that can occur with this mutation – blood clots and folic acid deficiency. From what I’ve read, heightened homocysteine levels are more significant than actually having the MTHFR mutation. Luckily, my homocysteine levels are normal which means I may not have too much of a problem. It’s interesting, though, because the clots involved in pregnancy with this mutation are microscopic clots that form on the placenta that disrupt nutrient intake of the fetus. This can lead to a whole list of problems including brain and spinal cord defects as well as babies that do not grow properly.

Upon reading all of this information, I first felt overwhelmed. Right after the office had called me about the results, I called Ryan, who seemed to be even more overwhelmed than me with the information that he’d researched. With all the bad news we’d received in the past throughout this pregnancy, naturally we both became very pessimistic again. Here we’d thought everything was okay when in reality here was the underlying problem. I hated to hear this news, but at the same time, it is much better to be informed than to not know anything. At least now we had something to go on and had ways of preventing future problems with both the baby and myself. It was nice to finally have some understanding and some closure.

I had an ultrasound appointment on the 20th (22 weeks 3 days) with a nurse practitioner. I wasn’t really sure of what to expect, but after the ultrasound, we planned on asking to speak to a doctor about this MTHFR thing since we really didn’t know anything about it other than what we’d read. The ultrasound went wonderfully. The baby seemed to be developing as he should, which was very reassuring. Ryan had even asked about whether or not clots could be seen on the ultrasound. “Not the kind associated with the problem,” is what she told us. She had looked over my file! She knew what my problem was. I was shocked. This showed us that she knew what she was talking about and understood our situation. Afterward, she had us come into her office to fill out hospital registration paperwork and for us to ask any questions. She was able to answer everything we had and helped us feel much better about the situation. She seemed to think that baby aspirin is the key to keeping everything running smoothly. At one point, Ryan asked her if cases like mine were common and she said that at any given time, there are about a half a dozen cases like mine at that office. That was good to know because this means they know how to deal with this sort of thing. She seemed to think that we were lucky to have made it as far as we had. That was kind of scary to know because the only reason we came to Massachusetts was our financial situation that’d gone downhill (me not working, him possibly losing hours in the coming months). Had that not happened and we stayed in Memphis, this pregnancy could have already ended itself or the end of it could have possibly been very near. It’s just so good to know that there are people here who are taking charge of my situation and not just blaming everything on something someone decided to pull out of the air.

I have an appointment with my new specialist on the 26th and am quite anxious to see how this goes. I don’t know if they can really do much other than explain everything in greater detail and possibly put me on a folic acid supplement (in addition to my vitamins). I’m just glad they figured out what was wrong and that there is a treatment that seems to be very successful. With all of the negatives that we’ve had to deal with throughout this pregnancy, I hope now that we only have positive things to look forward to. I’m only a little over halfway through (will be 23 weeks on Monday), but it seems as though 9 months upon 9 months have already gone by. I cannot wait until December when all of this will finally be over and we are hopefully rewarded with a happy, healthy baby boy.

The lack of interest and care that I had to deal with in Memphis angers me to no end. All previous heartaches with this pregnancy could have been avoided if they’d just done the proper testing of me or the baby that we lost. I don’t know how many days and nights I stressed out over having cervical insufficiency, possibly having to have my cervix stitched shut and possibly never being able to carry a baby to term. I know that the tests they did on me once I reached Massachusetts are not normal tests to do after a miscarriage, but I did not have a classic case for anything they were trying to pinpoint my 19 week miscarriage on and that should have been reason enough to want to do something more in order to figure out what was going on. I feel bad for anyone who has to deal with those doctors I had to deal with down there. Looking back on it, there was such a “God will take care of everything” attitude and I don’t know if that’s a typical southern mindset or not, but that is definitely not the right kind of mindset to have if you’re going to practice in a medical field. I’m just glad we are where we’re at now and have finally gotten some of the answers we’ve been looking for for so long.