20 Weeks Pregnant - The Final Fetal Medicine Appointment

On Sunday I reached 20 weeks pregnant, this was my ultimate milestone after the high Nuchal Translucancy test 10 whole weeks ago. A period of time I didn’t know if I would ever make after being told I was at higher risk of miscarriage following the high Nuchal fold. 

The time has passed so very slowly,  it feels like a lifetime ago since we first received the news that there may be something wrong with our baby. It has been a weight around my neck that has only grown tighter with the passage of time. 

Somehow we have weathered each and every appointment, each one bringing a fresh blow to the heart. 

Today with the world in a Covid 19 lockdown, we made our way back to Birmingham Women’s Hospital to see the team at fetal medicine. 

Today we were having a detailed echocardiogram to look at baby boys heart. Weirdly since I found out about the low amniotic fluid (Oligohydromnios), I’ve put the heart to the bottom of my list of worries.

Today it felt different to all of those other visits, it felt like today we might actually have some light shone on what was going on within my tiny little baby. 

Leo and I were dropped outside the front of the hospital as I was bursting for a pee (and had been since 5 minutes into the journey for that matter). I stood with Leo in the midst of a ghost town of the former busy hospital I had known before all of this. 

People walked around in masks, the cafe was open but baracaded off to only let 2 people in at a time so that they could practice safe social distancing. It was like being stood in the middle of a sci-fi movie. 

We made our way straight to Fetal Medicine so we didn’t have to hang around anywhere else too long, we were about 40 minutes early and we walked in to an almost empty waiting area with no receptionist to speak to.

We sat there for 5 minutes before the reception lady appeared, as soon as she saw Leo she started asking whether we had ‘received the message about children’, I think my blank expression answered that one, of course I hadn’t because nothing had been sent to me. It transpired that children were currently not allowed anywhere in the hospital. 

This meant that Leo had to leave the hospital, which left me alone to face the music, the two people I had come with had to leave, so I had to go into the unknown alone. I prayed the receptionist didn’t talk to me again as I sat there, I was angry and anxious and knew that I would just cry agitated tears at her.

My name was called and I was lead to the same room that my previous echocardiogram scan had been conducted in. The consultant asked if I had anyone with me... I had done, but now no I did not. 

The scan was carried out in silence, I think this may have been the longest ultrasound I have ever been in. The entire time he was looking at baby boy’s heart, I could see the red and blue flowing around, the oxygenated blood and the oxygen poor blood. To me it looked fine, it looked like it was flowing. I glanced at the man scanning me, but he gave nothing away.

When he did direct away from the heart, I saw baby boy and the small amount of amniotic fluid that was still left. He asked me whether I had lost any fluid, to which I honestly answered no. 

He pushed so hard with the Doppler, I had been having shooty pains low down on my left side on and off all day, and when he pushed down as firmly as he did, my tummy felt crampy. Eventually he said that to save tormenting me he would sit me in the adjacent room, I assumed this was when he would draw up my notes and then come back in to talk to me about what he had seen....

I sat there for over 20 minutes, people were walking past but no one materialised for me. Eventually a new face poked around the door, she told me that I was having another scan. I lay back down on the table and she began to do her own investigation. 

This second face was actually the fetal cardiologist consultant, she knew her stuff. This scan didn’t last as long as the inital one, the original consultant had re-entered the room now and they were passing comments back and forth, although it might as well have been in a foreign language. 

Finally Dr Johnston came into the room, I saw her at what I believe was my second fetal medicine appointment. Now they had finished looking at the heart, they needed to look baby over head to toe in order to give me a diagnosis and potential prognosis.

I had been in the hospital well over an hour now, well aware that it must have been so tedious for my boys waiting for me to finish. 

The final scan concluded and I was shown back to the room I had been occupying. I was told that they were going to draw the report up now and then they would come and discuss everything with me.

Eventually Dr Johnston, the cardiologist and another face entered the room. The third person had materialised when they had shouted ‘were ready for you now’, I wasn’t sure what her role in all this would be right away, but it soon became transparent.

What they were about to tell me, they had been worrying about telling me, mainly because I was alone. This third face was here to be my shoulder to cry on should I need it.

Dr Johnston started by asking me what I understood so far. ‘I’m aware that there were a number of structural differences found in the baby, including the heart and low amniotic fluid. I am not expecting you to have good news for me’.

I think this cast some relief over them, judging by their sorrowful looks. I wasn’t sure who to look at, so I just tried to focus on whoever was speaking.

Dr Johnston continued ‘the baby is significantly smaller than he should be at this stage and there is very little fluid around the baby. Starting from the top, babies head is long and narrow which is nothing to worry about, it’s just a symptom of their being less fluid. The brain itself looks ok, I know there were concerns about the cerebellum but that actually looks alright. It’s small in keeping with the rest of the baby’.

I can’t see the face clearly, I can see there’s Two eyes, I can see there’s a nose. I can’t see the lip as clearly as I would like to so I can’t really comment on that. The spine looks ok, the arms have the right number of bones and that’s important because there are other syndromes that can be associated with one of the bones missing in the forearm. All the long bones are present.

I can see fingers, I can’t see feet clearly, but that’s not that they aren’t there, it’s just due to the lack of fluid. I can see the belly button and there are 2 vessels in the cord instead of 3, on its own that doesn’t really mean anything but can go with kidney problems.

Putting everything together the main thing that I am worried about here is that when there is no fluid around the baby at this stage, the lungs don’t develop. I think the risk of what we call lethal pulmonary (lungs) hypoplasia (small) where the lungs have grown too small, or the lungs aren’t big enough, the baby can’t get the oxygen out of the air that he breathes, there are no ventilators or drugs that will change that. If the lungs are really small then we call that lethal because they just don’t survive after birth.... and I think your baby falls in that category.

I’m very worried that it doesn’t matter what we do or how far you get in the pregnancy, that after birth the baby isn’t going to survive because of the chest. I think that is a real concern.

Now...we are seeing differences in the heart as well’ 

This is where the cardiologist starts talking to me.

‘I have labelled the heart as something called Tetrology of Fallot which is when there is a hole in the heart’ 

I asked for confirmation that there was a hole and she said ‘yes there is a big hole’. ‘The blood vessels are shifted over so they come more from the right side of the heart. Usually you have Two blood vessels come off, the body blood vessel and one that goes to our lungs. The one that goes to the lungs in narrow, it’s not completely closed but it’s really narrowed and the lung arteries are really small, it’s what we call congenital heart disease. 

If it was that on its own, there are things that we can do. It involves heart surgery but when it’s everything else as well, the problem is babies need really, really good lungs for their heart surgery to go really well. When you add in lungs that are not good, a heart that’s not good and then problems with kidneys as well... it doesn’t go very well. 

I was taking the news very well until they asked me if I had thought about what I wanted to do, it’s all I have really been thinking about. How do you decide to terminate a baby that you whole heartedly want to bring into the world? A baby that was supposed to be your rainbow baby?A baby that was supposed to make Leo a big brother? A baby that you want to bring home and show the big wide world to?

I declined a termination, I said no to stopping my baby boys heartbeat without so much of a second thought. 

I was told a termination at this stage most probably won’t change the outlook for our little man, that he may continue to survive inside because my body is doing all of the work for him, even with the low amniotic fluid. 

The conversation quickly progressed from hearts, kidneys and no baby to bring home, to how I wanted to proceed with labour and birth. I’ve said all along that whatever happens I want to labour. This is the very least I can do for my baby, and whenever this happens, I will rise to the occasion and do what needs to be done.  

I was told to decline fetal monitoring as it is more than likely that the baby is going to get distressed, as the cord will get squashed due to the lack of fluid which could then lead to an emergency c-section. A C section would be a big surgery to go through and would impact any future pregnancies... and on top of recovering from surgery to then not bring my baby boy home.

Then it progressed onto ‘after the baby is born’ this is where I was told to only consider a care package, and this is where I have to disagree. 

If I can get my baby to a viable gestation, no one can really say how his lungs are going to be, or how he really will be over all. 

Scans are wonderful things that allow an insight into a baby’s growth and development while in utero.... but they can get things wrong, they don’t always pick everything up (especially with low fluid). I had been told by more than one consultant in this pregnancy that babies cerebellum was abnormal, and now it’s not. Now I’m told that it’s normal. 

I was told that my baby most likely had Edwards Syndrome, that he had scoliosis of the lower spine, and then he passed the Amniocentisis and his spine looks fine. 

This is exactly why I’ve made my decision. 

I cannot and will not end my babies life. 

I will take each day as it comes, I have to choose between Two horrendous choices. I can choose to end my babies life now, or I can carry on and birth him, and lose him anyway.

Either way I have to labour. 

Or.. I can carry on letting nature decide. I can ask for intervention if we get to a viable stage. I can ask for steroids for the babies lungs, I can ask for saline solution during labour to help stop baby becoming distressed, and I can opt for intervention after he is born. 

I haven’t grown him for 20 weeks to give up on him now. He hasn’t overcome the Amniocentisis and having low amniotic fluid for me to give up on him now.

So out of my Two horrible decisions, I choose to carry on. I choose blind faith, I choose life. I choose to let him fight and have a chance, because a chance instead of certain demise is what will get me through this.

Either way I have to labour, either way I will meet this little man, but one means I will meet him after his eyes have closed forever, after I have stopped his heart from beating and one means that I might get some time with him, no matter how small that time may be. 

Tonight as I lay in bed, I felt baby boy move for the first time. I didn’t think that moment would ever come in this pregnancy, but he wiggled hard enough for me to not only feel him within, but to feel him with my hand on my stomach. 

I like to believe that this is his way of telling me to keep going, out of all the days I could have felt the little push of his movements, he chose today (20+2 weeks). Today he was strong enough for me to feel him him, the same day I was offered a termination to end his life. 

Only time will tell how this story plays out, and only entering the world will give us a real look at my little heart warrior. 

Suspected Chromosomal Anomaly: Keeping Hope

The scan from 12 weeks. How can such a perfect looking baby be so poorly?

It’s coming up to 2am, I have been reading all sorts online in the hours since I came to bed. Luke is fast asleep next to me, but sleep for me will not come.

Since the scan on Tuesday I have to admit that I felt defeated, that this pregnancy was destined to end without a baby. Although we don't have an official diagnosis, I took the prognosis to mean one of almost certainty. I felt myself take a step back from the pregnancy and my baby and somewhat disconnect.

I don't know what changed today, whether I just needed time to absorb what I had been told, whether my gut feeling had taken over the inclination to just lay down and not move, or whether the fight for my babies life won out, something made me take out the report from the scan, have another read and start collating information online.

I started out reading about Edward’s Syndrome and how bleak the diagnosis is. I have been in forums and tried to see if there is any hope, any hope at all. I know for some people they would carry on just so they could hold their baby for anytime that they may have, but for me Edwards is just to cruel... If it is that I will have to take actions to ensure my baby feels no pain.

Something in me though doesn’t believe it is Edward’s Syndrome (T18), It’s just a gut feeling, a sense that I believe is tied to the harmony test coming back low risk for the 3 main trisomies. I can't get my head around how it would come back low risk for something that my baby would have?

It has to be something else...It has to.

Following the scan on Tuesday I haven’t listened to baby on my at home Doppler. I didn’t see the point, I know the heartbeat sounds as it should, but I also know what shows on the scan. If this pregnancy was going to end in termination for medical grounds... Why listen to the beat of a heart that ultimately I would be responsible for ceasing, for stopping forever?

I cancelled my belated 16 week midwife appointment, I messaged explaining about our bad news and how I didn't think I needed the appointmnet anymore.

I couldn’t justify going to this appointment after the news, the way I have been has been pretty up and down. One minute I am ok, the next something pulls the rug from beneath me again and the tears don't feel like they will end. I would have just cried at this appointment, she would probably check the heartbeat and tell me that everything was ok, when I know that isn't the case. I already knew the heartbeat sounded normal and healthy. It was the findings on the scan that we’re sounding the alarm bells.

I’ve spent the rest of this week coming to terms with what I had been told. Up until tonight I have to admit that I had lost all hope, I have been reading into terminations for medical reasons because I don’t want to inflict pain on my baby. I don’t want to see them suffer. I was even reading into baby cremations and ash jewellery.

My internet searches went from your typical pregnancy symptoms to tragedy overnight.

I’ve had moments where I’ve completely lost it, like Wednesday when the pushchair I had ordered arrived. I had literally ordered it the night before the gender scan when I believed everything was ok, ironically if I had waited one more day, I wouldn't have ordered it.

I cried angry tears, sad tears and disappointed tears. Then somewhere among it all something dark and twisty made me whole heartedly laugh. 

Tomorrow morning I should have been sitting my appointment at Fetal Medicine in Birmingham, but for some reason yesterday they called to cancel that appointment. I now have to wait the entire weekend to see them and finally get my Amniocentisis that will lead me to more answers, and more difficult decisions on this already rocky road.

Part of me is annoyed and incredibly angry that I have to wait even longer for more answers, but there's another part of me that is relishing the time. For a few days atleast I can pretend everything is ok, I can live in ignorance and wish for a happy ending. 

I refused to check the baby’s heartbeat at home right up until tonight, but something changed within me this evening. Despite everything that happened this week, despite where my mind had gone I don’t feel I can give up all hope just yet.

I need to pick myself up from the position I have curled up in on the floor, look into every scenario, and have hope that it may not be Trisomy 18. It could be something else. Until the results from the Amnio come in, I have to believe that there is hope.

I’ve been reading everything I can, trying to ponder if it could be any other condition than trisomy 18 and a promised death sentance.

It feels weird saying I’m willing any other condition to fit, to almost will a diagnosis on your unborn child, but when you have been told it could be a condition that means you won’t get your baby at the end of it, a different condition opposed to no condition is the next best thing.

From what I have been told my baby is showing on ultrasound, there is a chance it could be a couple of other conditions, but I can't help leaning toward Noonan Syndrome.

From this latest ultrasound these are the notes that I have on my report:

- Despite BMI of 20 very difficult views as baby very curled up and breech.

- Placenta appears bulky.

- Posterior Fossa appears abnormal with dilated 4th ventricle.

- Lateral Ventricles 5.4mm - This is a normal measurement.

- Dolicephalic head shape (longer than expected).

- Unable to get clear views of spine (the scan images were not a good view).

- Bladder not seen (but it has been on previous scans).

- Heart views abnormal: Abnormal Axis, deviated to the left. Rate normal but brief bradycardia (where the rate drops, and this can happen in perfectly healthy babies). Only Pulmonary artery seen in 3VV. Left outflow tract seen arising from Left ventricle but unable to demonstarte in 3VV. Right heart appears enlarged.

- Unable to visualise face clearly (thanks to the view again...)

- Feet apear rocker bottomed.

- Aware high chance of chromosomal anomaly.

Not forgetting that at the gender scan, it was mentioned that it looked like the baby had potential scolosis of the lower spine (I am learning so many new medical terms in this pregnancy), although the spine wasn't visualised for further comment on this occasion.

The consultant did talk about potential Hypoplastic Heart Syndrome, so that could account for the heart, but I can't recall if she said Left or Right. What I need to understand is whether the findings on their own without Trisomy 18 give my baby a good chance. I need to have the echo scan to find out more about Nugget's heart, and I need the views to be better of baby.

I am wondering if a fetal MRI could be an option, or if an internal scan will provide a better insight to what is going on with baby. With the views on the scan being less than poor, I need to be completely certain that this is not affecting the findings.

 For now all I can do is wait, and hope. Even with all of the above listed against my baby, if it isn't Trisomy 18, then there is hope. If there is a quality of life for my baby, I will fight tooth hook and nail for life.

For now all I can do it wait and hope.



-

A Second Opinion: Chromosomal Disorder?

They say life is un-fair, but I have always been a happy go lucky kind of girl. When I get kicked, I get back up, dust myself off and try again. I think this time I may have been kicked a little too hard, I don't want to get back up, I don't want to dust myself off and I definetly don't want to try again.

They say lightning doesn't strike twice, they say that pregnancy after a loss is your rainbow baby. No one ever said that this pregnancy was going to break me beyond any recognition of myself. 

After the gender scan that ended in tears on Saturday, I got in touch with my life line Nicky. A lady that has been incredible throughout this entire process. From finding the fluid at 10 weeks, to being available at the end of the phone when she didn't have any obligation to actually help me. She did so out of the goodness of her heart, and I will be forever grateful for that.

I text Nicky first thing Monday morning, I told her about the gender scan and the abnormalities that were flagged. Nicky was over at Worcester Hospital that day, she put me in touch with midwives based there, they arranged for me to see my consultant for an ultrasound the following afternoon. 

I think I had convinced myself of what was going to happen, I think I had accepted that there was something. What that something was though I didn't know, and I was hoping that the scan may shed more light on what was going on. Hoping that it was something that we could work with and ultimately bring our baby into the world.

My friend came along with me to this scan as Luke was on a course, this appointment was one that I know I wouldn't have been able to obtain if it wasn't for Nicky. I know if I had simply called the hospital, they would have told me to wait for the Fetal Medicine appointment that had been scheduled for this coming Friday... So I told Luke to keep his course going, that we probably wouldn't get much more information at this scan, that this was just to double check the concerns.

This was the first time I had met my consultant, she's a wonderful lady, very thorough, to the point but caring at the same time. Someone that I could work with, I have realised that I need to know what they think, I need facts and honesty. I deal better with the truth than speculation.

I lay there on the consultation bed as she looked around at what was visible of baby. The views were not good, I could see flashes of spine, heart and head as she inspected them more closely, but nothing that resembled a baby. I have found this at a few of the scans, but whenever Nicky has scanned me I have seen an entire baby. 

I had been asked to come with a full bladder, but I knew that I would be asked to go and empty as that seems to present the best views of baby. I was first asked to empty half, and then when that didn't help, I was asked to return with an empty bladder.

The consultant told me that baby was really difficult to scan, that they still looked very curled up and at this stage (17 weeks) they would expect them to be less like this now. I stared at the monitor that was angled towards me, and we sat in silence as she inspected Nugget and concentrated.

I glanced over every so often to see if her face gave anything away, but the only thing I could tell was that she was really thinking about what she was seeing. I watched her label the 4 chambers of the heart, look inside babies head and saw a foot pop into view. 

Eventually the consultant spoke, and she went through so much more than anticipated with me. She had concerns, she confirmed that eveyrthing that had been seen on Saturday was there (my second opinion), the heart tilts to the left and appears abnormal, she only saw one pulmonary artery in 3VV (Im not sure what 3VV is) and the left outflow tract was seen arising from the left ventricle but she was unable to demonstarte in 3vv (we would need a detailed heart scan with fetal medicine). 

The posterior fossa appears abnormal with an enlarged 4th ventrile and Nugget's head looks dolicephalic (long and cone like is my understanding). The babies feet appear rocker bottomed and there were things that couldn't be looked at due to the visibility conditions...

I asked her what this could point towards, not for a second thinking she would tell me.

All of these markers together point towards a chromosomal anomaly, and she believed that it was Trisomy 18 - Edwards Syndrome.

Ironically and heartbreakingly this is one of the trisomies that the Harmony Test came back low risk for. I thought we had been cleared against Downs, Edwards and Patel.

Edwards Syndrome is caused by the presence of a third copy of all or part of chromosome 18. It affects many parts of the growing babies body, often results in smaller babies and they are prone to heart defects, small heads, small jaws, clenched fists with overlapping fingers and severe intellectual disabilities.

Edwards is not a nice condition, and right from when I first heard about it 7 weeks ago, I knew this would be one of my worst case scenarios. I said right then and there that this would not be a quality of life I want for my baby, but not once did I expect this to be the actual outcome. Babies often die in the womb, or not long after birth. If they do live there are ongoing problems and many die within the first year.

I don't think I could put my family though that. I can't do that to Leo.

I was shown to a little room away from the waiting area and the many happily pregnant ladies, Nicky came in to see me and gave me a hug. She said how un-fair it all was, and boy did I feel that. It feels incredibly un-fair but as much as I want to shout and scream that, what's the point? What is it going to change? Achieve? 

Absolutely nothing. 

I was shown out the back so I could avoid seeing everyone, I drove home. I picked Leo up. As soon as we got in the car, he asked me how I had gotten on with baby, and I couldn't lie.

I was going to wait until Friday to update him, but Leo deserved to know. I feel like I have dangled carrots of what could be, and then ripped them away, not once but twice. 

I have told Leo he is going to be a big brother twice, and each time I have taken it away again.

Leo fell into my arms and didn't move, when he looked up he had tears trickling down his face. The what could have been, the joy that we should feel just flashes before your eyes and dissappears like the spark of a firework in the bleak nights sky.

Nothing is set in stone right now, we need to do the Amnio this Friday, have additional scans and wait for the results. I know what has to happen if it is Trisomy 18, but if there is a chance it's something else, I need to know. 

For now though I feel an acceptance, this wasn't anything I did. This was pre-determined at conception, just like the gender, just like how everything else is put together. 

It doesn't make it any easier to digest, but I know how I have to proceed, and when it comes to making those hard decisions I know that I need to be armed with all the facts, have complete certainty and go from there.