Trigger Warning

 

This is the story of Marley, as recorded by her mother, Hope. It is part one, of a two part series. Please read the trigger warning, this is a heartbreaking sequence of events.

“They gave so much to stay little. But then, angels always do”.

We weren’t strangers to loss. Our hearts had been broken before, we had said goodbye to three tiny babies, each just a few weeks after we discovered them, but that didn’t minimize the impact they left on our hearts. Still, the Miracle of Marley was something we never in  a million years could have imagined.

Tuesday 14th July, 2009

I stayed home from work, I had an awful case of the flu. I was 11 weeks 1 day pregnant, and my all day sickness and flu combination had me unable to move from my bed. I had booked in for my NT scan for the coming Friday, but something was wrong. I was bleeding, and it was heavier than the bleeding I had already been experiencing. I was getting worried, bleeding was normal for me, but not like this. This was different. I called the scan clinic, and they changed my scan to that afternoon. I was expecting the worst, I expected the baby to be gone. But to my surprise, a tiny heartbeat was flickering on the screen. I cried. We saw arms, legs, a little face. The sonographer said things looked fine. He took measurements of the Nuchal Fold, checked we had done the blood test they needed me to do and sent us on our way. We were ecstatic! Our baby looked wonderful!

Wednesday 15th July, 2009

At about 3pm, Harper (my son) and I were unloading the dishwasher when the phone rang. It was the GP’s receptionist with a message the the doctor wanted to talk to me. My obstetrician was overseas at the time, so my GP had referred me for the NT scan. My heart sank. He told me the news from the scan was not good. He told me there was a 1/42 chance that our baby had down syndrome. The number shocked me, for my age and health status the number should have been more like 1/900. I was crushed. He strongly recommended further testing, an amniocentesis.  I felt as though I couldn’t breathe as I hung up the phone. I slid to the ground, and called my husband Nathan. He came home from work. The phone rang again, another call from my doctor. More bad news. I was only 11 weeks pregnant, the amnio could not be done until we reached the 16th week of the pregnancy. He recommended a CVS instead, a procedure that carries a 1/100 chance of causing miscarriage. After some research I believe the odds were actually better than that, so agreed to have the procedure done. I was told there was nobody in my area to perform the procedure, and that I would have to go to the big hospital, some hours away from home. I researched the doctor, and finally felt comfortable that she was one of the best, and that my baby and I would be in safe hands. The next few days are a blur of worry, and anxiety.

Monday 20th July, 2009

Nathan and I were driving up to the hospital, and staying overnight. We had to stop by the doctors office and pick up the report and referral details. Of course my mummy instinct kicked in and I read the report in the car. It said:

“Extremely large nuchal thickness of 5mm, indicative of a serious issue. No nasal bone was detected (85% of babies with downs to not have a visible nasal bone at this stage) and possible omphalocele. Genetic counselling and further testing is strongly recommended”.

What? What the hell was that? Out came Google, where I learned about an abdominal wall defect where the organs protrude from the stomach in a small sack. Again, I was crushed. I had written our baby off.

Tuesday 21st July, 2009

We went into the ultrasound room, and spoke with the sonographer. She looked grim. We immediately saw the massive nuchal fold. It was worse. However we did see a nasal bone, and confirm that the abdominal wall was fine, and her heart was beating. As far as we could see, our baby looked ok. The doctor came in, confirmed the findings and broke the news that the nuchal fold was now 6mm, as opposed to the 5mm it had been previously. Then she went ahead and did the CVS. She spoke at length with us about Turners Syndrome, a syndrome that only affects girls. Our baby was a girl! A daughter! I had read a lot about Turners syndrome, and knew enough to know that  a lot of the symptoms of TS would be visible on ultrasound by now. My baby was displaying none of them, apart from the enlarged nuchal fold. The chance our baby had down syndrome had now changed from 1/42 to 1/2.

Wednesday  22nd July, 2009

We were supposed to get a call by lunchtime with the preliminary test results. I was clock watching. At 12.30, the phone still had not rung. 2.30pm came and went and I was starting to get more and more concerned. We caved, and called the doctor’s office. The doctor was busy and would call us back. And then finally at 4.30 we received news. The first words I heard were “Hope, It’s Doctor Ramsay. Good news, it’s clear!”

WHAT! And it’s confirmed! Our baby is a girl! The results we were receiving had ruled out Down Syndrome, Turners Syndrome, Trisomy 13 and Trisomy 18. The rest of the test results would take two more weeks, but wow! We were so excited! Two weeks later we would find out that the cells they had taken, on rare occasion do not grow in time to be read in the two week time frame. Three weeks would pass before we would get our results.

Wednesday – August 2009

I was grocery shopping with Harper when I realized a message had been left on my mobile. “Hope, it’s Dr Ramsay, we have the final results from the CVS and it’s good news”. When I had a minute to call back, the office was closed. But I knew this meant we were in the clear. Our daughter was going to be fine. We knew there were some things to look out for potentially, heart problems, spina bifida, but generally treatable concerns. Our fears were gone, our baby was ok.

Thursday, 13th August 2009

I woke up feeling amazing! My all day sickness had eased, Nath and I were heading to Sydney for another scan of our little girl and now we had almost nothing to worry about! I could hardly contain myself on the way up, we were so excited. We were taken into the ultrasound room where the sonographer had been briefed on our CVS results and was all smiles. Until the first image of our baby came up on the screen. There was our baby girls head with a MASSIVE fluid sack around the back of it. It was as large as her head, and I knew immediately it was not meant to be there. I also knew what it was. I had spent the last few weeks researching all the possible things my precious baby could be fighting against, and this was one of them. Nathan had no idea, but even he could recognize something didn’t look right. It was a cystic hygroma. The only images of them I had seen were on the internet, babies of about 18 weeks gestation who had passed away from the condition. I couldn’t breathe. The sonographer continued scanning, and found a small amount of fluid in her abdomen, and lungs. This was not good. On the up side, her spine was perfect, she was measuring right for dates, she had perfect fingers and toes, and her kidneys were functioning. Her heart also looked good. Her face was beautiful, but the sonographer could not find her bladder. She left the room, and came back with Doctor Ramsay.

Doctor Ramsay came back very sombre, and clearly upset. She told us this was not good news. When I asked where it had come from, she replied that she really didn’t know, but that most commonly it is caused by chromosomal abnormalities. This confused us, our baby had been cleared! I asked if she would make it, if our daughter could live. Doctor Ramsay looked towards the floor, and shook her head ever so slightly. Our daughter was going to die. That’s what she had just told us. Everyone left the room to let me get dressed. While it was just Nathan and I, all I could think of, and say was that there was no way I was killing my baby. We decided that no matter what, the life we had worked so hard to create would not end in our hands.

We met Doctor Ramsay in what we called “the bad news room”. A small room, with a lounge, table, chairs, and a box of tissues. Doctor Ramsay barely got through the door before I announced that we would not consider termination. She understood, but still looked worried. I asked “What do we do now?”.  A barrage of blood tests were ordered, to check for maternal infections that could have been causing her illness. It could have been her kidneys, or spina bifida. Both were ruled out. The next step was a full heart scan during the 19th week of pregnancy, if she made it that far. It was made very clear to us that the chances of her heart stopping prior to the scan was high. After that, at 22 weeks we would see a paediatric cardiologist to have a heart echo done. At this stage we were told her chances of survival  were next to none, but we still would not waiver. We then had to go back into ultrasound so they could try and find our baby girls bladder. It took time, but it was sighted.

The drive home was awful. I was on my iPhone, googling symptoms, looking for stories of babies who defied the odds. Unfortunately most everything I read agreed with the doctors. It was becoming clear that our baby had very little chance of rallying against whatever was attacking her. While I was googling, I remembered seeing the word “Hydrops”. I looked it up and learned it was the medical term for the fluid they had found in her belly, and lungs. It said that “Where Cystic Hygroma is presented with Hydrops Fetalis the mortality rate is 100%”. Yes, all babies who have this condition die. I felt sick. When we finally got home my obsession for research took over. I found a few websites with success stories. Babies with the exact same prognosis as us, who had fought and survived. So where on earth did the 100% mortality rate come from?

(The truth is, that the majority of parents who receive this diagnosis will go on to terminate the pregnancy. The thought of continuing a pregnancy where the baby will almost certainly die is unbearable for some, and not a person on this earth could condemn them for that. It’s such a personal and difficult choice. )

A few days later…..

My obstetrician wanted to see me yesterday. He had been faxed my scan results and as expected holds no hope that she will survive, or make it past 20 weeks gestation. If she does make it far enough, he has agreed that we should deliver in Sydney and determine what specialists we will need on hand. He is of the opinion that it is very unlikely she will survive beyond 24 weeks, but should she make it that far that we should deliver immediately. I THINK NOT! I have made it clear to him that we are aware of the statistics, but we are also aware that there is a chance for her, and we are holding onto that with all we have. His comment was that we are “letting nature take its course”. I disagree. We are letting nature take its course to give her a chance to live. He also said he was sorry it had turned out like this, after all we had been through with our previous miscarriages. This really upset me, I wasn’t ready to give up, and I didn’t want him to, either. I told him that it hadn’t turned out like anything, yet, she’s not gone yet, so don’t treat me like she has.

He is a good guy. But he’s never seen this before, but he has said he will support us, no matter what our decisions are. Our baby had a 0.025% chance of getting this, and up to a 5% chance of beating it. She was 200 times more likely to beat it, than to get it. With numbers like that, our girl will win. So, in this moment, we are waking up each morning and listening to the glorious thumping coming from our fetal doppler.

Another Update

Just came from the GP to get my referral to the hospital. He was obviously very shocked at what is happening, but I told him not to worry, that Marley will be screaming the place down in a few short months. (We’ve named our girl Marley! It’s perfect for her!). I did read the last report, and it is even worse than we first thought. The cystic hygroma is measuring a full 2.1cm (bigger than her head!), and has what is called a “Midline Septum” in between and has large cystic spaces on either side. I looked it up, and it’s just more bad news. Stupid Medical journals! Bleh!

Monday 17th August, 2009

I got a hold of the Fetal Medicine department at Randwick hospital. I spoke with an amazing doctor  and I explained our whole story, from beginning to end and she was shocked and appalled at the prognosis we had been given. She admitted that while there are no guarantees for Marley, that the only problems we’ve seen are the hydrops and hygroma, the 100% mortality rate was inaccurate. She also can’t believe we were given this awful news, and then given no follow up care or support. She immediately slotted me in for a scan on Thursday, with a professor. I need to organize for all my blood results and scans to be  faxed up there to them, and she is also organizing us to see a genetic counsellor. She thinks Marley’s odds at survival might be higher, and is stunned we were offered termination at a stage where they hadn’t even found much wrong. She is taking over my care, and has offered us the option of weekly scans. She said waiting four weeks “to see if she was still alive” was unacceptable. I am so glad to have found her! Marley fights on!

Thursday 20th August, 2009

Today didn’t bring the news we had hoped for. I have to commend the staff at Randwick, they made all the difference for us today. The cystic hygroma is bigger, but that isn’t what is concerning us now. Marley has gone from having slight hydrops to having marked hydrops. The fluid is now running under her skin, her tiny body is swollen and this is very, very bad for her. Her beautiful face is what dreams are made from – Our girl is gorgeous! As I laid on the bed being scanned, Nath held my hand tight with his reassuring grip as we both silently prayed for good news. In a second that was torn away from us. After careful scanning by the professor and a doctor, with two medical students watching on the gel was removed from my belly, and the debrief began.

The professor apologized for what he was about to tell us. “What we have seen is not good, the chances are not good, the chances of you going on to deliver a healthy baby at this stage is next to none”. No matter how many times you are told that, you can never ever prepare to hear the words. They just rip your heart out. We still don’t know why she is so sick. It could be viral, but he doubts it. It could be a rare syndrome that the CVS can’t detect, or it could be genetic, something we, her parents, have passed on. It could be recessive, so maybe 1 out of 4 kids will get it. None of this can be diagnosed prenatally, only autopsy could tell. For the moment we will watch her.  He will not say she will not live, he admits he has been wrong before. But she does not look good, not at all. Over the next few weeks it may get so bad her tiny heart will give up. Or her heart may keep going, but the swelling happening inside her body could become dangerous for me.

At that point all I’m hearing is “blah blah blah” because regardless of me, there is no way we are delivering this baby unless she has the best chance at survival when we do so. If we get to 24 weeks a neonatologist will come and assess her, to tell us if and when they think delivery would be optimum. But for now, we have to wait. We will have another scan in two weeks. I feel awful for it, but I am starting to believe this little lady is losing her fight. All I want is for her to know her Mummy and Daddy love and adore her, and admire the amazing strength she has to keep fighting.

Sunday 23rd August, 2009

Well, believe it or not but our ‘lil lady is still kicking! It has now been nearly two weeks since she was dealt the “not going to make it” card, and to that she says PPPPPFFFFFTTTTTTTTTTTT!

I will have a scan at the end of this week, just to check on things. In all honesty we are no expecting any improvement yet, but hey, with Marley, who knows! My belly is growing rapidly, we’ve been told it’s because the placenta is massively swollen now too, and I’m carrying extra fluid. I like to think it’s from Marley’s enormous heart busting out to show the world what it’s all about. x

Monday 24th August, 2009

Wow, I just received an email from a complete stranger offering her services free of charge as a maternity photographer, and can you believe she only lives 20 minutes away? I am astounded at this incredible show of support and well wishes at this time. I will take her up on her offer, I would love to have some photos of our angel just in case. Not much else to report, we have another scan this Thursday so fingers crossed Marley puts on a good show. For everyone following our story, you are what makes the human race special. It feels as though we are riding on the wings of a thousand butterflies to carry us over these hard times. Again, thank you. x

Thursday 27th August 2009

It has been two weeks since the fatal diagnosis. We are having another scan, but logically just to see what the ‘lil lady is up to. We were taken into the ultrasound room by a pretty young girl, (I thought, we got a fresh one!). When we walked in she asked how we were, introduced herself and then asked (you’ll love this!), “So has everything been going fine so far?” I was quite bewildered, and answered “Um, no. You have our reports, (I had made copies and hand delivered them so everyone was up to speed) our baby has been diagnosed with a Cystic Hygroma, and Hydrops”….. The colour drained from her face. She commented “I’m just learning, but I’ll do what I can and then get my supervisor”. She was so nice.

Nathan and I said no problems, and I climbed onto the table. The screen came up and there was Marley’s heart, fluttering away. There was an almost audible sigh of relief from the sonographer, and she then continued on taking measurements and checking things. I asked a couple of questions, but she had no answers so I just left it after that. The supervisor came in, checked over the report and announced that he had never seen a case like Marley’s before. This didn’t instil a great deal of confidence. But by now Nath and I had seen what we needed to, the Hygroma was still very big, but not worse, more fluid around her lungs, less in her tummy. Her forearm and hand are now quite swollen, but she is wriggling around like nobody’s business, very healthy and not acting the least bit sick!

The sonographer-in-training took measurements and messed them up. She had her belly measuring at 23 weeks – What?! My heart almost stopped, things had obviously gotten much worse! But then they looked again, and got it right. What a huge scare! Afterwards, a more senior sonographer came in to take a look. She said she had heard of hydrops, but again had never seen it firsthand! All these unknowing technicians! She said she’d like to take another look at the heart, which was fine. By now there were three sonographer s in the room, and if anything good was happening it was that they were learning, and maybe would be able to be more positive with other families in the future regarding prognosis. She grabbed the wand and Bam! The power went out.

Nathan told her not to worry, we are clearly bad luck. It came back on, the computer started to boot up and then it went again. Marley, you little show off! She finally got to look at the heart, it seemed fine. When we got home, I compared last week’s measurements to this weeks. This week’s measurement is about 1cm smaller, which if that is correct is a great thing! We go back next Thursday. The news still isn’t wonderful, but our little trooper is still beating the odds.

See Part Two, of the Miracle of Marley