Well, life has thrown us a curve ball. I need someplace to put down all this information swimming around in my head, so I finally decided to start this journal. I probably should have done this sooner, but...oh well, I am starting it now. I am currently 22.5 weeks pregnant with our 2nd child. It all started with a seemingly innocent NT screening at about 11 weeks.
First a little background: I am 35, DH is 34. We have a 2.5 year old son named Austin, who is just a blessing, and he makes us laugh every day. We decided to try for another little one in January of this year. Austin took 13 months to conceive; this one we managed in half the time. On July 7, 2009, I took a pregnancy test completely on a whim (I was soooo sure I had not conceived that month- our timing was off) and was blown away to see a 2nd line. Over the next few weeks, I kept waiting for the train to derail - but it didn't. At our 8 week appointment, we saw a heartbeat. However, we did not come away from that appointment with no worries-- my OB saw a "black spot" on the baby's head that he didn't know what was. Since I am 35, he was already recommending that I see a perinatologist anyway, because of my age. So, he just figured the peri would be able to provide more information or insight as to what the black spot was.
So, that brings us up to speed. DH and I went to the peri when I was about 11.5 weeks for a routine NT screening.
Will update more later. Need nap now.
Last edited by I'm_a_pepper; 11-16-2009 at 07:45 PM.
DS Austin ~ May '07
DS Jake ~ January '10, a moment in our arms, a lifetime in our hearts...
DD Allyson ~ December 1, 2011
My pg.org journal
So, we be-bopped into our NT screening not expecting anything unusual. I had only turned 35 about 6 months before, for pete's sake. At the NT scan, the dr. measures the nuchal fold at the back of the baby's neck. A thicker than normal fold *could* mean abnormalities. The dr. said the cutoff was 3.5; ours measured 3.9. He said everything else with the baby looked good - the baby's size was measuring right on, and everything else looked structurally fine - the heart, the arms, legs, etc. The dr. said that the high NT measurement meant that there was a 20% chance that the baby had abnormalities - an 80% chance that the thickenened fold was just a little extra fluid that would resolve itself in a few weeks. He said to focus on that 80% and he would like to see me back in a few weeks. I also had some bloodwork done. I left the appointment feeling a little numb and somewhat like I had been kicked in the stomach- I had never had any problems with Austin's pregnancy - nary an abnormal test result. I have never even had an abnormal test result myself - so all of this was unsettling and strange.
Last edited by I'm_a_pepper; 11-18-2009 at 01:32 AM.
About a week later, the nurse called with the bloodwork results from the NT screening. The bloodwork came back normal for Trisomy 13 & 18, but abnormal for Down's syndrome (aka Trisomy 21). So, the bloodwork combined with the NT measurement put us at a 1 in 10 chance for Down's. I just didn't know what to think. Of course I know what Down's syndrome is, but I have never personally known anyone with it. I spent the next few weeks pondering what it would be like to have a child with Down's and trying to focus on the fact that there was a 90% chance that the baby wouldn't have Down's. I had another appt to see the peri when I was about 15.5 weeks.
Last edited by I'm_a_pepper; 11-18-2009 at 01:31 AM.
I went back to see the peri when I was about 15.5 weeks. This appointment was even more bad news. The dr. measured all the parts of the anatomy and looked at all the organs, etc. The first thing he told me was that the arms and legs were measuring about 2 weeks behind the rest of the body (less than 5th percentile). He also found that the fluid on the brain was measuring a little on the high end, and he found a cyst that he called a "Dandy-Walker cyst". The cyst is between the 2 halves of the cerebellum (the back part of the brain). It looked pretty prominent, I could definitely see it on the ultrasound. He was also able to tell that the baby was a boy - that was exciting to hear, although it was bittersweet, given all the other crappy things that the dr. was telling me.
I will never forget the dr's words - he said he thought that there was a "significant, real chance" that the baby had one of the trisomies. He said he didn't want to sway me either way, but if I chose to have an amniocentesis (the only way to know for sure), that he would like me to get one that week.
I had already been leaning toward NOT getting an amnio, just because I had so many questions about it. I wasn't sure if it was the right thing to do, because it carries a risk of miscarriage (1 in 200 according to the doc) - would I be deliberately risking the life of my baby because of my need to know?? Would God hold me accountable for killing my baby if I did miscarry because of the amnio? In fact, I wasn't sure I wanted to know any more. I sobbed the whole way home, thinking about all this stuff. I was just DONE with all the testing, the stress, the bad news. I thought, I don't care to know any more information--it's enough for me to assume that the baby isn't going to make it, and I'll just love this baby as much as I can while it is still alive and deal with it when he passes away and is born stillborn. I truly had come to that conclusion.
Then when I got home, I talked to my DH, and he said that he hoped it wasn't selfish of him, but he would really like to know what we are dealing with for sure, so he kind of wanted me to have the amnio done. We went and met with our minister and his wife the next night to let them know of the situation and to just let things out. They were so supportive and caring. They let us know that we are not alone. I decided to go ahead and have the amnio done; it was scheduled for that Friday. I would be 16 weeks, 1 day.
So, we went for the amnio when I was 16w1d. The amnio did hurt, I won't lie- it felt like a needle being jabbed into my uterus, which is what was happening. But it wasn't anything I couldn't handle, and the pain didn't last long. The dr. did have to go in twice with the needle because the baby wouldn't move his legs out of the way. The dr. took the needle in all the way to the uterine wall, but then pulled it back out and we just sat there and waited for the baby to shift his legs and feet out of the way. Finally, he must've moved, because the dr. went in again with the needle and pulled out the fluid he needed. That part only took about 15 seconds, and that was it, we were done! I had to get a Rhogam shot in my butt afterwards, because I am Rh negative. That dang shot was $120 and my insurance refused to pay for it, which I'm still upset about, and I don't understand. But, I digress.
I had to be on bedrest the rest of the day and the next day. The doc said we would have initial results within 2-3 days, which would tell us if the baby had Down's, Trisomy 13 or 18.
Last edited by I'm_a_pepper; 11-20-2009 at 12:54 AM.
I spent the weekend trying to prepare myself for the worst. I imagined scenarios in my head where the call would come with the worst possible news I could think of..."yes, Mrs.___, we have the results and the baby does have Trisomy 13 (or 18 )." I just didn't know how I would handle it.
The following Tuesday morning (the amnio was done on Friday), I was eating breakfast when the phone rang. I knew it was the dr's office calling because it came up on the caller ID. My heart immediately started pounding and I started shaking all over. I squeaked out "hello?" and the nurse said, "yes, I'm calling with your initial results from the amniocentesis. The results came back normal." My heart leapt -- I thought I was imagining things. She said they should have the final results in about a week. Such relief washed over me that I have never known before. I just kept thanking God over and over as I dialed my husband, our minister, my mom, my sister, and told them all the good news. Of course everyone was thrilled.
I knew that we definitely were not out of the woods -- this only meant that the baby did not have one of those 3 major conditions - Down's, Trisomy 13 or 18. They were still testing for other conditions like spina bifida, muscular dystrophy, cystic fibrosis, etc. - none of which were "good news" by any means.
In about a week, the nurse called again and said that all of the final results had came back from the amnio -- normal. More relief. But, what was going on with our baby??
My next appointment with the peri was when I was about 18.5 weeks. I was very curious to see what the dr. would find with this ultrasound, because we now knew the chromosomes were normal. However, I should have known that everything wasn't going to magically be okay. The legs and arms were measuring about 3-4 weeks behind this time, and the Dandy-Walker cyst was still very prominent. He also saw signs that there might be a ASD or VSD (hole in the heart) but he couldn't tell for sure.
The dr. did check the rest of the anatomy and everything looked fine, no club feet, no cleft palate, 5 fingers and 5 toes on each hand & foot. So all of that was good news.
But, what did all of the anomalies mean? The dr. mentioned dwarfism more than once during the rest of the appt. He said that there are hundreds of different types of dwarfism, some of which could be lethal. The problem with these lethal types of dwarfism is the chest cavity doesn't grow big enough to support the lungs, so the lungs don't develop enough and when the baby is born, it can't breathe on its own, so it dies within a few hours after birth. He said we may not know for sure if/what kind of dwarfism the baby had until he was born, and the peds would do a full-body x-ray to determine the size of the bones, etc.
So the next step was to see a pediatric cardiologist to determine if there really was a hole in the heart. Then, the peri would try to put all of these "symptoms" or anomalies together to see if they were part of a bigger syndrome, or condition.
A couple of days later, we saw the pediatric cardiologist. She did confirm that she saw a 3mm hole in the heart (VSD-ventricular septal defect). She said it was a pretty small hole, and oftentimes they will close up on their own before the baby is born, or within a few months after birth. If not, surgery can be done to repair it. She said it is a pretty common condition, and that the rest of the heart looked perfectly normal. She seemed to be a very positive doctor, and we left the appt feeling pretty okay with things.
Side note: It is amazing what a little positivity will do for one's spirits when you've been feeling so beaten down. Our peri is a great doctor and I know that he is knowledgeable, but by this time, we had figured out that he always seems to lean towards the worst-case scenario. I know that is probably what he feels like he has to do, just to prepare his patients. Or maybe it's just his personality. But he is always very straightforward with the facts, not a lot of compassion or positivity about how things COULD turn out to be not so bad. I always leave there feeling beaten down and defeated.
Last edited by I'm_a_pepper; 11-20-2009 at 01:30 AM.
Well, that brings us up to my latest appointment, which was this past Monday, when I was 22.5 weeks. I have to say that I have become accustomed to trying to "prep" myself for bad news when I go to these appointments, because it seems like that's all I ever hear when I go. I am probably the least confrontational person in the world, but I like to confront people and say what I need to say to them -- in my head. So, the night before my appt, I was thinking about what I would say to my peri if I had the guts. I would describe to him that, "for the 3 or 4 weeks in between appointments, I sort of coast along and maybe convince myself that things aren't so bad as they seem. And then when I have the appointment, I leave here feeling like I have been kicked in the stomach. So defeated and deflated. And then everyone wants to know, 'how was the appointment?' and I have to repeat the same bad things over and over and over. Hey doc--Do you have any idea what an emotional toll this is taking on me and my family? The complete and utter rollercoaster this is?? I UNDERSTAND that you have to give me scenarios -- I know that you are just doing your job by telling me all the bad things it COULD turn out to be, but for once, it would be fantastic to - just once - hear you say 'but, you know, it COULD turn out to be not so bad, and the baby could display only mild or no symptoms.' The truth is, you just don't KNOW what the problem is, and you probably won't until I'm farther along or even until the baby is born, so why are you going to the worst places so soon??"
Well, anyway, that's what I said to him in my mind.
So, this is why I have started trying to dial myself down before each appointment, because I have come to expect the worst.
Anyway, the appointment. The dr. found that the limbs are now measuring 6 weeks behind! I am certainly no expert in anatomy and ultrasound, but even I can tell -- when he's calling off measurements to his nurse and the lower leg bone is only measuring 15mm and the foot is measuring 40mm -- something is NOT right there.
The Dandy-Walker cyst is still there on the brain, though he said it was "not as prominent". I took that to be a good thing-- maybe it is shrinking? But a big thing he kept talking about was the hydrocephalus on the brain, which he hasn't even mentioned for the past few appointments. Apparently it is making the ventricles of the brain enlarged -- and maybe the head itself -- he did say the head was measuring a bit on the large side. The rest of the body is measuring just fine, except for the abdomen, which is measuring a bit on the large side.
I asked him about the dwarfism discussion that we had at the last appointment, and if the chest was measuring okay. He did say that the chest is measuring normally right now, and if he had to make an educated guess, that the chest size is not going to be an issue, and that the lungs should have enough room to grow. That made me feel better.
So, the bottom line from the appt was....he thinks the baby might have some rare syndrome. He had done some research before the appt and narrowed it down to about 5 or 6 conditions that he thinks it *possibly* could be. He read them off to me, some of which he had trouble pronouncing. I get the feeling that this is just a little beyond his expertise -- he doesn't normally deal with these things because they are so rare. He said that there are over 5,000 of these "single cell" syndromes. A more accurate way to test would be to send off some cells and do DNA testing on them for each of the suspected conditions, which would require another amniocentesis (it's been too long since my first amnio to have any cells left over from that). He didn't think I would be willing to go for another amnio (which is true), and plus, it's very expensive to test for each of these conditions - probably over $1000 for each test!
Each of the syndromes he mentioned has a wide range of complications and symptoms -- from mental retardation, neurological issues, to worse -- the child does not live past the first year of life. It just depends on how severe the syndrome manifests itself.
By the end of the appointment, he had recommended that I see a medical geneticist. He said that she can narrow it down even further to 1 or 2 conditions that she thinks it might be, and then we can go from there. Of course, it would be her opinion only. But I think I would feel better knowing a little bit more of maybe what to expect. He did say that we will probably not know absolutely for sure until the baby is born and they can send off blood or tissue and test for these conditions. And even then, not every syndrome has DNA testing available, so we may not even have an answer then. He said the genetic doctors may debate about it for months after the baby is born, if there is no clear diagnosis.
So, we wait, and wonder. I am currently waiting on my peri's office to call me with an appointment with the medical geneticist. I am anxious to see what she has to say -- to see if she can make any sense of this.