# 18 How much more can we take?

Whilst waiting for my next scan appointment to come around, I received a phone call at work from our hospital. They were asking me to come in the following day for a head to toe scan of the baby because Liverpool would only be concentrating on the heart. We sat waiting in the cold entrance of the corridor for nearly an hour, (we couldn’t wait in the waiting room because my husband and I were both attending, COVID rules). Whilst we sat there we noticed the consultant from the scan after New Year’s Eve (the one who needed a second opinion) walking through the corridor and we joked we hoped we weren’t seeing her again...well, we did. I nervously now sat on the bed and looked at the tv monitor whilst she was measuring up and having a look all over the baby, my husband holding my hand and frantically rubbing it as usual. She kept turning down the brightness of the screen and this started concerning me. I couldn’t take any more silence and asked what was wrong, she showed us the baby’s bowel, showing white and bright on the screen. When the screen was turned low the bowel remained white just like the baby’s bones, but everything else went dark. She explained it was known as a pronounced echogenic bowel. It could be a problem, but it could also pass, just another thing that this poor baby is coping with. She then went on to show us the amount of fluid still all under the baby’s skin. Then finished off the scan by showing us the baby’s legs and arms. Both are very small in contrast to the baby's body and head, known as long short bones. Not coping well and in distress at the latest findings we were called in on Monday to have blood tests for investigations into the baby’s bowel. Chances are I could have picked up an infection that caused it, the baby could have swallowed some blood, or it could be signs of cystic fibrosis. We were told that our Liverpool appointment will hopefully be brought forwards. I was now signed off work for 2 weeks whilst investigations take place regularly and the wait for results continued. Friends and family showed great support but with the never ending worry going through my mind, comments like “healthy mind healthy baby” and “maybe he’s just got little legs like his dad” did me no good at all. No. My baby may not survive, it’s not just trying to keep your chin up anymore.

The Liverpool appointment could NOT be brought forward as we needed the cardiologist from Alder Hey present, so it remained as the 22nd February. The days building up to it felt like forever. The appointment wasn’t until 2pm either so the morning dragged on and on.

We arrived and were sat back in the building that created our baby once again, just a different floor with different emotions. We were taken through and I could feel my legs trembling whilst the heart sonographer put 3 sachets of jelly on my ever growing tummy. She informed me that our hospital had mentioned some new findings and she was going to have a check all over the baby for me. The baby was lying on its back with its legs over its head. Making it very difficult for her. I explained that I knew it would be, as in the last 2 days I’ve been feeling it wriggle and kick around pretty much continuously through the night. Then in walked the cardiologist from Alder Hey children’s hospital, followed shortly by one of the best consultants in the hospital. I felt like if they were going to get to the bottom of this, I have the best possible team!!!

It may have only been seconds to maybe minutes of silence every time they looked somewhere on the baby, but it felt like hours! I could tell by the tones of their whispering voices and the happy nodding of the cardiologist that the heart was not as bad as they suspected. The top consultant then asked to take over the scan as he studied measurements in much more detail and concentrated on the chest and then spent a long time on the brain. I tried asking a few questions but they went on to say we will talk you through all the findings in the family room. I started to tremble all over now.

A nurse came in with the consultant as we were talked through the severity of the latest news. I say we were talked through, but if you’ve ever been told any news that has caused turmoil in your life, it’s as if you switch off and you’re no longer in the room but you know your body is being talked at...

The heart is healing itself. It still has a VSD but it appears to be muscular and should close up in a few months time but they will continue to observe. They see no sign of a pronounced echogenic bowel. There are no cystic hygromas now, but they have left a nuchal fold of 6mm thick on the neck. Now this was when it got scary...The baby’s legs and arms are showing a lack of growth, on average 2 weeks behind the rest of its body. This suggests strongly that it is still pointing to a genetic syndrome as a diagnosis. Today’s findings have also shown that the baby’s chest is not growing, known as ‘evolving chest hypoplasia’. The heart is taking up 50% of the size of the chest which may lead to pressure on the lungs and heart soon. There is also ‘agenesis of the corpus callosum‘, which means the baby’s brain is also missing fibres that hold both sides together.

The termination word is brought up again, depending on how we feel the outcome and quality of life for our baby will have. I’m now over 20 weeks pregnant and regularly woken up by my miracle baby wriggling around. I’m a mum. I’m everything that I’ve ever dreamed of being and feeling. I am now connected to my meaning of this life I’ve been dealt, filled with heartache, this was my happy ending. My miracle. What if a growth spurt is just around the corner, just like the hole in the heart is closing? What if we don't even realise not everyone has the fibres covering the brain? I'm wishing and hoping a lot, I know, but I don't want to terminate a baby that's still fighting with all their might. Does that make me selfish?

The consultant went on to explain an ‘exome’ test that they would like to do. He perfectly explained (in my sort of terminology) that the labs look at DNA like Google maps. So when they look through the microscope they can see the countries, England, Wales, Scotland. When they did the CVS test back in January it then looked at the locations, Liverpool, Crewe, Torquay. What the exome test will do is look at the roads of the locations. But unfortunately at present there is no test that could look at the houses.

It’s extremely rare to see so many things happen and wrong with a baby so he’s unable to give any idea of a diagnosis as he suspects it’s a very rare genetic condition. Once there is a diagnosis he can do his research to follow up.

The talk then turned to whether I would need to provide another sample (would need to have an amniocentesis) or whether they still had enough from my CVS. My husband was more distraught than I was, I was willing to do anything, I was numb anyway. Nearly another hour later we found out from the lab that they had plenty. Now it’s just another 10-14 day wait for the results, possibly even over 2 weeks depending on the speed of the growth of the tests.

When we were signing the paperwork, the doctor explained that the hole in the heart can have surgery, the talipes (club feet) can be treated, but the chest growth is a massive concern as there’s nothing he can do.

Once home, I could hear screaming, like an outer body experience again. It was me breaking my heart out. My husband tried to cuddle me and calm me. He put the tv on to try and distract me and on came an advert for Mother’s Day. I started to break down again and the night continued in endless tears.

It's now the morning after. I’m losing hope. I just see darkness. I lose time stroking my stomach with tears falling like a waterfall from my eyes. I already love this baby more than anything I've ever experienced in my life. This is my future, carrying my love for this incredible baby. I just hope it's carrying them in my arms instead of in my heart.