Ebstein’s Anomaly – Grace’s Story

Grace was diagnosed with a serious form of Ebstein’s Anomaly at her mum, Aimee’s, 20 week scan. Sadly, she passed away soon after birth, but her parents are forever grateful to the sonographer who spotted her heart defect. Without the early detection, Grace wouldn’t have made it to birth. This is their story:

‘In October 2011, when my husband and I found out we were expecting a second baby, we were over the moon. Like most parents-to-be, after the 12 week scan we felt safe enough to start buying new baby things, discuss names and tell our daughter, Susie (aged two at the time), about her brother or sister to be.  Whenever anyone asked me if I was hoping for a boy or a girl, I gave the standard answer: ‘I don’t mind as long as it’s healthy’.

The wait for the 20 week scan seemed like an eternity. We were so desperate to find out if we were having a Grace or a Toby. Three years earlier, when I was pregnant with Susie, the 20 week scan terrified me. I couldn’t believe that in the delicate and complicated process of making a baby, nothing could go wrong. I worried for weeks beforehand – would there be something wrong with my baby? When the day of the scan arrived, I couldn’t stop shaking. Until I saw Susie on screen and was told that she was fine. Perfect.

Waiting for my second 20 week scan was an entirely different experience. My body had done it just fine before, so I wasn’t worried. All my husband and I focused on was finding out the gender. My exact words to him minutes before we entered the scan room were, ‘I can’t believe how nervous I was before Susie’s scan. This time I’m not scared at all.’

The irony of those words stays with me every day.

The scan started off well. The sonographer went through all the body parts in turn, ‘Brain. Fine. Spine. Fine’ etc. Her final check was on the heart. At that moment, time stopped as she said, ‘Baby’s heart looks asymmetrical. I’m just going to find the doctor’. When the doctor finally finished looking at our baby’s heart, her words wafted over me in waves. ‘Baby’s heart is too big, blood is flowing the wrong way, you need to be referred to the John Radcliffe hospital urgently’.

In all of this, the fact we were having another girl was lost. The gender just didn’t matter anymore.

The next day we found ourselves at the John Radcliffe. A fetal cardiologist spent what felt like hours scanning our baby’s heart. From watching the blurred images on the screen, I had no idea what she was viewing and measuring. But I did know that Grace’s heart was the size of a walnut, and I marvelled at the doctor’s skill and the complexity of the equipment she was using.

Eventually, she gave us her diagnosis. Our baby had a rare and serious heart condition called Ebstein’s Anomaly. Essentially, one of the valves in her heart hadn’t formed properly and this affected the blood flow. Our little girl’s heart was too big as a result.

The doctor went through all of the possible outcomes with us. Termination was offered but never an option. If our baby was going to die, it would be nature’s decision, not ours. Our job was to give her every possible chance to live.

From that day, we saw our consultant almost every week. She never gave us false hope and we were well educated about the reality of our baby’s condition. At around 25 weeks, things were not progressing well and Grace was not expected to make it to birth. We came away from every appointment knowing that all we could do was wait. Wait to see if Grace would stop moving during the week or if she would make it to see the doctor  again.

While she was expected to stop moving, stop living, Grace had other ideas. She was the MOST active baby! Every time I sat or lay down, Grace was kicking, punching, rolling and flipping around in my belly. Compared to my lazy Susie who used to go hours without moving (and make me out of my mind with worry), Grace was having a 24 hour party. It was the reassurance and hope we desperately needed.

Defying all odds, Grace made it to 32 weeks. Our consultant said it would be safer for her to be delivered than to carry on with the pregnancy.  She had not expected Grace to make it to this point and warned us that the first few hours after birth would be critical. But I had hope. She’d made it this far….

I was booked in for a C-Section. There was a real crowd in the operating theatre – surgeons, nurses, midwives, neonatologists, medical student. Grace had a proper audience for her arrival. And when she did arrive, she made a faint noise before being whisked onto a little table and hooked up to life support. All I could see was a little foot in the air while they worked on her. And then she was rushed past us on her way to the intensive care nursery.

That first night, she did so well. Our consultant said it was ‘better than we ever dared to hope’. Various doctors came to see us to let us know how well she was doing. When she was finally ready to meet us, my husband wheeled me down to the intensive care nursery and we saw our baby for the first time. So tiny, perfect and beautiful – dwarfed by wires and machines – but alive and fighting all the way.

When I went back to recovery, I stayed awake all night thinking about Susie and Grace. They would be best of friends and the worst of enemies all at the same time. Susie was going to boss the hell out of Grace and Grace would take it with a resolute grin. Stupidly, I didn’t worry about Grace that night. In my eyes she had made it. She was home and dry. Instead, I thought ahead to the day we could finally take her home.

A midwife came to get me at 5am. Grace had gone into cardiac arrest and the doctors had only just managed to bring her back. I was rushed down to be with her and my husband was called. We were told that there was no chance of Grace surviving. Finally, we had to face the cold, hard truth. Our baby would not make it. Despite the doctors’ very best efforts, she was just too ill.

The doctors told us we had a choice. If we carried on with the life support, she would die in her cot, attached to all the wires and monitors. Or, we could withdraw life-support and let her die in our arms. We made the heart-breaking decision to withdraw her life support, because we couldn’t bear the thought of her dying alone in the cot. At least we were able to have one long cuddle without wires and machines as she left us. Grace died in the arms of parents who loved her so much – I hope she felt that love.

The precious few hours that we spent with Grace and the memories contained within them mean the world to us. Without the early detection of her condition, we wouldn’t have had the chance to meet and hold our little girl before she died. She would certainly have been stillborn if my pregnancy had been left to continue unassisted. Early detection also meant that we were well prepared and educated about Grace’s condition and the likely outcome. We know that Grace received world-class care and that everything possible was done to give her a chance to live. As heart-breaking and tragic as losing Grace was, her short journey would never have started had it not been for the sonographer who spotted her heart defect. We will always be grateful for that.’

Find out more about Ebstein’s Anomaly here.