The day I learned our baby had Down Syndrome

After I learned from the initial mosaic result of our CVS that our baby “most likely” had Down Syndrome, everything changed. I no longer felt any hope for the pregnancy. All I felt was anxiety, fear, sadness and numbness. I refused to let myself consider the possibility of termination until I knew whether Down Syndrome was a certainty, but at the same time I placed all the feelings of love and excitement for our baby on hold. I was protecting myself and I felt ashamed in doing so.

I spoke to a geneticist at the hospital. I thought I might perhaps learn something from  her, but I didn’t really. She discussed my options at this stage. We would have to wait until 16 weeks for an amniocentesis, with the results likely to come out later that week. We could keep the baby, we could terminate. No pressure was placed on me to choose one way or another. If ultimately we choose termination though, I would likely need to be induced over several days, as surgical termination is rare after 12 weeks and not possible at all after 18 weeks.

This really threw me. I was sick at the thought of an induction. I briefly let my mind wander. I would need to take pills and then wait, overnight, a morning, perhaps an afternoon or even two nights for contractions and labour only to give birth to a baby that was no longer alive. There was no taking this baby home in the capsule and wrapping him or her up and rocking him or her to sleep. Jesus. I couldn’t bear the thought and I cried. I thought of all the woman who must have been through this process, whether by choice or otherwise, whether now or later in their pregnancies. It was heartbreaking.

I was so anxious when I returned home that I rang BEP. “You never mentioned that if we elected to end the pregnancy it would be by induction!” He replied that it was because I’d never suggested to him that we wanted to terminate. Still! He explained that surgery would most likely be possible, provided we were within the 18 week timeframe and one of the two surgeons available wasn’t on holiday. On holiday. Imagine having your path chosen for you because the surgeon is on holiday. I irrationally thought that surgeons shouldn’t have holidays.

I went to work on Monday. But 9am I completely broke down. I sobbed at my open plan desk, in front of my colleagues, our marketing manger, our librarians. My PA shuffled me into my boss’s office. Thankfully he was overseas and I was able to hide in there, blotchy red face and streaming eyes. I asked to talk to HR. Our HR lady came in. I explained everything. The first miscarriage. The second miscarriage. The possibility of things never returning to normal. The 12 week scan. The CVS. The real likelihood that we faced having a baby with Down Syndrome. She said something about one of her friends having a miscarriage. At the moment I realised she had no idea about the pain I was in. I went home.

I was coming home from the supermarket on Friday, just over a week since the initial CVS results came through. The geneticist rang. She said some lab test results had come back. I was mystified. As far as I knew the next step in our process was the amniocentesis at 16 weeks. We were at 14 weeks. “The final results from the CVS have come back. It usually takes much longer which is why the next step we considered was the amnio. The chromosomes are 100% Trisomy 21”, she said. I didn’t cry. I wasn’t shocked. Bizarrely I felt only relief tainted with sadness. It was game over. The worst two week wait ever was over.

 

 

A mosaic result

We were told by our obstetrician that the results of the CVS, the test where a needle was inserted through my belly into the placenta, would be available within 48 hours. I went to work because that was more bearable than waiting by my phone at home.

We had the CVS on Monday afternoon. On Wednesday from about midday I was anxious, staring at my computer screen, staring at my phone, over and over again. 48 hours came and went. It came time for me to leave work, I picked up my son and went home. My husband came home. The 6pm news came and went. The evening came and went. We went to bed quietly, staring at the ceiling.

I knew Thursday was the day. It had to be. I took my son to gym as a distraction with my phone up my sleeve. No call. By 11.30am I was consumed by anxiety. My son was in bed and I sat on the couch. I rang the obstetrician’s office, “oh sorry he is really rushed off his feet this morning, there’s a woman in labour and he’s trying to get to the hospital and back for his appointments at the clinic. He’ll call you at lunch, around 12.30.” I asked if she could tell me the results, “oh, I’m the stupidest one here, I wouldn’t know what they meant even if I looked at them”. It seemed like I was being fobbed off. Why wouldn’t he give me a call to say everything was OK? I could only assume it was because things weren’t OK at all.

I forced myself to go to bed and woke up at around 12.20. I watched every single minute tick by until 12.30. His lunch was at 12.30, he would call me then. But he didn’t. I watched the clock until 12.45. And then until 1pm. And then until 2pm. And then until 2.15pm. I couldn’t take it anymore. I called back the clinic and demanded to know what the hell was going on and why no-one would talk to me. They said the obstetrician would call me as soon as he could.

The call came at about 2.30pm. BEP explained that the results, “were complicated.” We fell within the one percent of cases which produced an inconclusive result. One percent! I couldn’t believe it. BEP and his ****ing statistics. It was laughable that we could possibly fall within the one, two, three percent yet again.

BEP explained that around 53% of the cells in the placenta were normal, and the remaining 47% positive for trisomy 21. What did that mean? It could mean one of three things: the baby was fine (well except for the high risk of a heart defect), but the placenta would be much less effective giving rise to risks to the baby; the baby’s genetic makeup was the same as the placenta; or that the baby had 100% trisomy 21 chromosomes.

I asked what the odds were, he explained it was, “highly likely” that the baby had trisomy 21. I asked, “well, I am a lawyer, and in my world “highly likely” means 80 percent, perhaps 90 percent.” He explained to me that “highly likely” meant greater than 50 percent, but that he could not narrow that any further. He recommended that I talk to a genetic counsellor. “Fine” I agreed.

To obtain a conclusive result BEP explained that I would have to wait another two and a half weeks until 16 weeks to have an amniocentesis, and then wait a further 48 hours after that for the result. I imagined how big my belly would be at that time. I felt ashamed that the thought filled me with dread.

I gave up hope that day. I think I began to grieve. It was all too much to digest. It should have been the happiest week that we’d had in years telling our friends and family our wonderful news that our son would be a big brother. But it was exactly the opposite. I was so stressed, so anxious, so numb and devoid of happiness. And so angry. The odds were stacked so heavily against us. A 1/13 nuchal translucency reading. Brought down to 1/10 with the blood test results. 47 percent trisomy 21 cells present. And even if our baby didn’t have trisomy 21 it was at high risk for heart defects and premature birth, amongst a raft of other things. If our baby was born at 26 weeks with a faulty heart, it’s chances of survival would be slim.

 

 

 

CVS (chorionic villus sampling)

A week ago I didn’t know what CVS was.

In a nutshell and from the perspective of a non-medical professional, it is a diagnostic  technique where a sample is collected from the placenta and used to test (at around 99% accuracy) for issues such as chromosomal abnormalities in a developing foetus.

I talked to BEP about my options following a high nuchal translucency reading. He recommended CVS, as the results are available in 48 hours. This was in comparison to our other option, a blood test, where the results would be available in around two weeks. The main downside of a CVS was a 1% risk of miscarriage. We decided that the risk was worth it for peace of mind. He also advised me that, even if the CVS came back clear we were far from being out of the woods. Apparently a high nuchal translucency reading is also related to other significant issues, like heart defects which could be fatal.

It was hard to take. I couldn’t face work on the Monday. My appointment was scheduled for 3.30pm that afternoon at the hospital. It was a similar feeling to sitting the most difficult exam of your life. I paced around the house, achieving absolutely nothing. My husband arrived home just before 3pm and together with our son we headed off.

I was crying by the time we reached the Fetal Monitoring Unit. The receptionist kept staring at me. I stared back. We were promptly called into a private room. I recognised the obstetrician there who would perform the procedure. He can be effectively summed up as Guy Smiley. Not really what you want on one of the more stressful days of your life. Guy Smiley advised us that my blood test results had come back. They weren’t good. Our risk was now one in ten. Guy Smiley irked my husband by repeatedly joking about, “sticking a needle in my belly” and nearly had his lights punched out by me when he said, “I had a one in two that was OK, you’ll be just fine!”

I had to stop crying when the CVS was performed. Guy Smiley placed some antiseptic on my tummy, and then a sterile sheet. He then used a needle to apply a local anaesthetic and then used another needle to gain the sample of placenta. I watched motionless on the ultrasound as he hacked away at the placenta. The midwife tried to talk to me about my son as though we were having a coffee together in a cafe. I didn’t respond.

It didn’t take long. Guy Smiley said I would know the result within 48 hours. The midwife said it might be slightly longer, as it was already 4pm. I recommenced my crying and toddled out to the waiting room with a fairly sensitive tummy. The receptionist stared at me again. And so began the excruciating wait for our results.

 

 

The world couldn’t be so cruel

It has been some time since my last post, three months or so in fact. About the time that it takes to fall pregnant and endure the first trimester of fatigue, morning sickness, hope and anxiety. And that’s no coincidence, because we’re pregnant.

It was only about a week after we were told by our obstetrician to “go forth and multiply” (his words not mine) that we conceived. Apart from the obvious, I barely know how it happened. I was still finding it difficult to decipher between withdrawal bleeding, a period and losing the last of the “products of conception” from our previous miscarriage to have any inkling about when I might be able to conceive again. But it happened. I was shocked, surprised, happy and nervous, but mainly glad that we didn’t have to endure months of anticipation. I wanted our son to have a little brother or sister before he was three.

I spent weeks going to bed early with tiredness and feeling nauseated morning, noon and night. My boobs hurt like crazy. My husband took our son to the pool, the beach, or the park almost every afternoon he could so that I could lie in bed, watching beautiful Autumn afternoons come and go through the window, but hopeful that it would soon all be worthwhile. The few friends I told I was pregnant crossed their toes and fingers for me. They asked if I was worried, “of course” I said, “but the world couldn’t be so cruel as to make this pregnancy third time unlucky.” They agreed. The world couldn’t be so cruel.

Our eight week scan went well. I was so nervous before hand that I paced around the sonographer’s office, checking over my shoulder every thirty seconds to check whether our appointment was ready. The sonographer confirmed a heartbeat probably within record time. It would have been obvious to anyone that I was a somewhat psychotic and deranged pregnant lady about to have a full blown meltdown. I proved her right somewhat by bawling uncontrollably at the sight of the heartbeat. Everything was going to be ok.

I then had a follow up appointment at BEP’s (my obstetrician) at around eleven weeks. I felt more confident than previously. I still felt sick, unlike my last pregnancy where my morning sickness had ended abruptly at around eight weeks. BEP said, “well let’s try and put your mind at ease”, and asked me to lie down so that he could perform an ultrasound. Before I could even ask whether he could see a heartbeat the baby moved! It was an incredible and unexpected moment. BEP even thought the baby measured at around twelve weeks. That magical twelve weeks.

BEP suggested that I undertake the standard twelve week nuchal translucency scan soon together with the blood test to test for issues including Down Syndrome. So I booked in at the sonographer’s that Thursday. I was slightly nervous, but nothing like the eight week scan. I’d seen the baby alive that Monday, and that had put me at ease.

The scan started well enough. The baby’s heartbeat could be seen, and the nasal bone, which apparently was a good sign. Then disaster. The sonographer began measuring the nuchal fluid. She loitered. I asked her if it was normal and she said no. The fluid measured at 3.8mm. Anything greater than 3.5mm was immediately referred to the Fetal Unit at the hospital. We asked what it meant. The sonographer said it meant it was likely that our baby had Down Syndrome. My husband asked, “what does that mean, does it mean more likely than not?” She seemed to agree. He asked again, “so is the risk, say, one in two?” She said, “it could be” and offered to enter the details into her computer to calculate our risk. One in thirteen. Lucky thirteen. Better than one in two, but one in thirteen! I’d only just turned 33 a few weeks earlier surely my risk wasn’t that high?

It was a day that, despite everything we’d been through, I hadn’t expected and it hit me hard. I cried. The midwife student shifted uncomfortably in her chair. The sonographer looked awkward and busied herself with preparing our report. “Why does this shit always happen to me?” I asked, “I don’t deserve this!” My beautiful son saw I was upset and gave me cuddles. My husband clutched my hand tightly.

We were moved into the staff room.  I cried there. Eventually we moved out to reception. I cried there too. I didn’t care that I was crying. They said I didn’t have to pay the $180 fee. I knew that must mean things were bad. And they were.

 

 

 

 

Trying again

After two miscarriages of three babies, two surgeries, and too many scans, we may well be ready to officially start trying once again. It’s been four months exactly since I had the devastating ultrasound that showed a perfect looking little guy with an inexplicable absence of life. My heart still aches, but it is not as acute. I still think about fertility, pregnancy and miscarriage every single day, but not for hours on end. And I’ve only cried perhaps a couple of times this last month. I try and convince myself that these four months have allowed me to heal somewhat, but I cannot help feeling somewhat cheated.

I’m lucky that I have had such a supportive husband. Although he sometimes struggles to understand the depths of my grief and preoccupation with what has happened and what the future holds, he has been incredible. I’ve been upset and withdrawn more often than not and for months on end. And he has at the same time dealt with his own grief. Support is so critical after a miscarriage, I cannot stress that enough. If you do not receive the support you need from family and friends, seek it from somewhere else.

My husband and I have yet to decide what to do with our little guys in my bedroom drawer and the kitchen freezer. In some ways I am loath to do anything that would see them leave me. In other ways, I know that my husband is right that we should look to honour and commemorate them. I think I’m now ready to face that. I’m thinking of getting a tattoo of three little birds, swallows, somewhere to provide a permanent reminder that they will always be loved.

What the heck is Asherman’s?

It was two months after my second surgery that I realized something was wrong. I hadn’t had a period, or anything resembling a period. I rang BEP (my obstetrician) and asked what might be causing this. He advised that it could be what I would later term “stubborn cervix syndrome” in that the cervix had reacted badly to the surgical procedure and remained tightly shut, or it could be hormonal, or there may be a few other explanations. He asked me to have a pelvic scan to rule out anything untoward, like Asherman’s Syndrome. I didn’t ask what Asherman’s Syndrome was.

The sonographer was pregnant I noticed. She was pleasant enough, and advised that she wanted to discuss what she had seen with the resident gynecologist. I waited for a few minutes and was then ushered into a separate room. They asked me to sit down. “We don’t really know what the situation is in your uterus, there are a few lumps that could be clots, and a lot of liquid that should be coming out but isn’t.” They seemed deliberately vague. It was a Friday afternoon, and my obstetrician rang and asked if I could please see him first thing on the Monday morning. Alarm bells were ringing. Once again I cried.

Don’t ever Google Asherman’s Syndrome. When I did it produced the most horrible results. Essentially, what was primarily discussed was a risk of the uterus scarring or even fusing together post-surgery, leading to a build up of blood inside the uterus and infertility. I totally flipped out when I read this.

BEP was great. He clearly saw the worry on my face. We read through the sonographer’s report line by line and he explained to me every aspect of it. “Asherman’s Sydrome covers such a broad range of conditions, from extreme to minor, that the term is effectively redundant,” he explained. “Thank God,” I thought, “hopefully we might fall into the minor category”. He suggested that he perform a procedure to dilate my cervix, and in the event that blood came out over the next few days and months that would indicate that there was no lasting issue, but rather a case of “stubborn cervix syndrome”.

It was certainly not glamorous and involved old-fashioned stirrups, but I didn’t care. The procedure appeared to be a success. A small amount of blood came out immediately. He prescribed me a contraceptive pill for a few months to “get things back on track”.

At my follow up scan, a different sonographer spent some time taking a variety of images. She advised that she wanted to discuss what she had seen with the resident gynecologist. I waited for a few minutes with my son, anxious as anything. The same gynecologist came into the room and said, “well it’s a different story today”. I didn’t know whether that was positive or not. “Is that a good thing or a bad thing?” I asked. “Good! Definitely good.” I think I had been holding my breath until that moment. What a massive relief. “There’s some blood remaining in your uterus but if I didn’t know your history I wouldn’t have thought twice about it. Compared to last time when it DEFINITELY WAS NOT NORMAL!” She mentioned something about “products of conception”. I was a bit taken aback at her forthrightness now that everything was seemingly OK. And this was the first time that anyone had suggested that perhaps some “products of conception” remained, that is, that the surgery had not been fully successful. I felt relieved, and confused, and sad.

The baseball bat of grief

We went to the driving range after our second miscarriage. With our son in tow, which in hindsight was perhaps not the best idea. It also transpires that the harder and more aggressively you try and hit a golf ball, the more likely it is to cascade off the roof of the driving range rather than fly effortlessly through the air. Still, I think it helped and none of us was injured.

Overnight it was as though the entire world became pregnant. I would scowl at pregnant women in the park (behind the safety of my sunglasses). I would cry privately when friend after friend would happily announce their pregnancy. It is a horrible feeling when you cannot give your friends the love and attention they deserve because you yourself are too consumed by your own feelings of sadness, grief and longing. I hated feeling that way. And it lasted a long time.

I watched as one of my colleagues became more and more pregnant until she left work, happy and excited. Ten minutes before her leaving lunch, I received a text from a friend advising of the arrival of her latest baby. He was born on the same date as our first baby had been due. I had to take myself away to the bathroom, lock myself in a cubicle with a tissue, and then promptly pull myself together. At the lunch another colleague joked, “so who’s going to have the next baby?!” In my mind I right hooked her pretty fiercely. In reality, I laughed awkwardly and said, “who knows?!”

Over the following months, I cried less and thought about babies / pregnancy / miscarriage less. I still thought about it many times a day and hated that. It preoccupied my mind and I couldn’t seem to do anything about it. I know now that it is simply a matter of time and these things have to be worked through and not rushed.

In early December I was knocked off my feet again. A friend told me, “it’s going to be much harder when number two comes along in May!” That was when our twins, or at least the one that was supposed to make it through, would have been born. I didn’t hear anything she said for quite a while after that, it was as though I was in one of those weird dreams where you are there but no-one realizes and you shout but no-one can hear you. I remember that I gave her a hug and a smile and nodded, and nodded, and nodded.

Today I’m wondering whether she thought I was strange, or rude, or whether she thought nothing of it at all. It wasn’t until I got home that I completely melted down and bawled in bed. I was disappointed in myself, but the experience made me realize that I had to expect similar reactions in the future. Grief can strike you at any time (and it may be with a whopping great baseball bat).