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.



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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.

10 Weeks Pregnant

It's been 2 weeks since my private scan, and the last week has gone really slowly as I have been waiting for my dating scan with the NHS. This isn't the 12 week scan, but a scan to see how far along I am due to my cycles being irregular. 

Everything has been going perfectly, I was happy knowing that at 8 weeks there was a strong heartbeat, and this did help settle my mind.

I have felt less tired in recent weeks and I have put that down to the placenta starting to take over for the baby's nutrients. I am back to later nights at 10 weeks pregnant, Luke and I have been working our way through the Alien movies each evening once Leo has gone to bed.

One thing that has become very obvious is that I am not a fan of the first trimester. It's so hard being pregnant and not knowing if things are progressing as they should. You can't feel your baby move and you literally have to have blind faith that everything is going to be ok.

I think this is even more true when you don't have full blown pregnancy symptoms, for me all I have really had is tiredness and sore boobs. I have developed a few food aversions again, Halloumi is off the menu for starter, I don't know what is about this cheese when I am pregnant but I hate it.

The other night I cooked up a beautiful big steak to have in a salad, but when it came to eat the steak it just didn't taste right. The dog thought he had died and gone to heaven when the opportunity to demolish the steak came about, I stuck with my feta and salad!

The NHS Dating Scan

Today, the 16th January 2020 my NHS dating scan finally came around. I didn't really have any feelings about this scan, I was eager to see that the baby's heart was still nice and strong, but I had just somehow decided that everything was going to be ok.

Luke and I arrived at the hospital, the same hospital that I was scanned at back in July when I was referred for my viability scan due to no heartbeat being detected. I was pleased to see that Nicky, the midwife who had seen me through my pregnancy with Leo, and also the one who conducted the scan back in July was still at the helm and doing the scan for us today.

It was in a different room to last time, a room that I felt was a safe space un-tainted by the past. Nicky welcomed us in and advised us that there was a student with us today, which of course was fine with myself and Luke. I lay down on the bed, Luke sat in the chair.

The gel was placed upon my belly and very quickly our baby appeared on the screen. I could already tell that baby had done a considerable amount of growing in those 2 weeks. At the 8 week scan Nugget was 17.8mm from crown to rump, and now at 10+5 Nugget was already 39mm!

I felt instantly relaxed as soon as I saw our little baby waving around on the screen, there was constant movement and the heart was beating just as it should. Nicky then said 'I do need to make you aware that there is more fluid than we would like behind the babies neck'.

This is usually highlighted around 12 weeks when they carry out the Nuchal Translucency (NT) check, this is the fluid that collects under the skin behind the babies neck. I recalled my midwife Louise talking about this check at 12 weeks, I remember saying that I wanted it.

Not for one second did I think it would be a cause for concern.

I didn't realise the severity of what she was saying right away, I just lay there in shock staring at our baby on the screen. Nicky explained that fluid behind the babies neck was a normal part of development for babies in the womb, but if the baby has more fluid than usual.... It could be an indication of a possible health problem.

Straight away my happy safe little bubble burst.

Nicky took some more measurements and confirmed that our little Nugget had 4.7mm of fluid and then talked us through the possible scenarios that could be linked to an increased NT.

- Trisomy 21 otherwise known as Down Syndrome - It's caused by an extra chromosome in your cells and occurs by chance at the time of conception.

-Trisomy 18 - Edwards Syndrome - I had never heard of this one but as soon as I took to Google I hoped to God that this wasn't the case. Edwards Syndrome is a rare but serious genetic condition that causes a wide range of medical problems.

-Trisomy 13 - Patau Syndrome - Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects.

- Genetic Syndromes

-Heart Abnormalities

- Increased risk of miscarriage

Nicky said that although it could be something, it may very well be nothing. Nicky talked us through the next steps and advised that following the scan today I would now be receiving consultant lead care for the rest of my pregnancy.

It was too early for the screening blood test to take place, and we discussed Chronic Villus Sampling (CVS), this is a diagnostic test that they can carry out between 11 and 14 weeks of pregnancy. It's an invasive test that I never thought that I would have to consider. It's where a needle is passed into your lower abdomen and into the placenta where cells are harvested and tested to look for the above chromosome abnormalities.

I looked at Luke for reassurance on what to do, the CVS had a 1-2% risk of miscarriage, we discussed what to do. We decided that we should be fully prepared and know what was happening, and the sooner the better.

In the seriousness of the scan I completely forgot to ask to purchase some scan photos. I had started walking down the corridor by the time I realised the error of my ways. I rushed back to the room like a mad woman, and Nicky had already closed the screen. She told me that she would post the images to me free of charge.

I returned to work and as I had already told the lady I work with about the pregnancy, she was of course excited to hear how I had gotten on. I explained that there was good news and some not so good news and went into the whole sorry tale.

Of course I didn't manage to stay composed and the tears did fall.

In all of the worry about the worst case scenario I had completely neglected to mention that the baby's due date was my birthday!

Our little nugget is due on the 8th August 2020! Exactly 31 years since I was born.

I am determined to remain positive, I will see this through and hope that Nugget is developing as he should be.

While I was back at work, Nikki text me and said that she had printed the scan photos off already and if I wanted to pop back that afternoon I could. When I did pop back she was in the middle of someone else's ultrasound but popped out to personally hand me the scan photos. She asked me to keep her updated and told me that she was crossing her fingers for me.

Nicky made today bearable, she equipped me with everything I needed to know (and writing it down here has really helped).

The NHS have been wonderful today, from Nicky and the referral that she has made for me to Worcester calling me up by 2:30pm (I expect this is where I will be seeing the consultant for the rest of my pregnancy) and by 4pm I had Birmingham's Fetal Medicine Department on the phone arranging an appointment for the CVS for Tuesday 21st January at 4pm!

The service today has been incredible, it may not have been the news I was hoping for, but I feel like we are in good hands.