Jody discovered her unborn baby Alex’s heart condition at her 20-week scan. Later, a genetic condition affecting his growth and development was identified. Through it all, their story is one of love, courage, and family strength. Here, Jody shares their journey:
(The photos in this story were taken by and belong to the author, depicting their family’s personal journey.)
It all began at the 20-week scan, where the sonographer tilted her head and told me she couldn’t get pictures of the heart. She said it might have been positional — until she got a senior staff member in. I’ll never forget their names, because I’m so thankful they discovered my baby’s heart condition at that scan: Beth and Karl.
Karl was very knowledgeable and said that, off the top of his head, he thought my baby had Hypoplastic Right Heart Syndrome (HRHS). He told me not to Google it and said I would be referred to a specialist Fetal Medicine Unit (FMU). He held my hand and told me it was nothing I had done. I confessed that I’d eaten some Brie before I knew I was pregnant, and he laughed and said my baby’s heart was absolutely not affected by eating a bit of cheese.
It took about two weeks until the FMU could fit me in. I didn’t listen to Karl — as soon as I got in the car, I pulled my phone from my bag (trembling) and typed in “plastic heart…”. That’s all I could remember, because the walls narrowed and his voice muffled.
Within those two weeks, I discovered what he was talking about: HRHS. I even found out about the Fontan circulation through my own research, and thanks to Tiny Tickers. I wrote all my questions down, and I attended Manchester two weeks later, extremely scared about what they would say.
The team confirmed Alex’s diagnosis at 22+4 weeks pregnant: HRHS. They initially said they weren’t sure at that stage whether Alex would definitely have to follow a single-ventricle path, but they thought it was likely. They spoke positively about the Fontan circulation, and it was a relief for me. I felt pleased that they could save my baby.
We were told it was unlikely to be linked to a genetic condition. The midwife, at the end of the discussion, said, “We do also have to give the option to terminate, should you wish,” and my partner and I said no. After such a positive discussion, and how we felt at the time, it didn’t feel right. We felt it was up to God to decide Alex’s fate.
At the 28-week full fetal scan, things unfortunately got worse: Alex had a small femur bone and FGR (fetal growth restriction). They urged me to have an amniocentesis, which I decided to accept, as I was scared and wanted the correct care in place. The results came back clear, and I remember feeling so relieved.
I was heavily monitored with twice-weekly scans. No one told me when Alex would likely be born, so again, I researched extensively — and I found that it was likely to be around 36 or 37 weeks.
My due date was December, and I knew Alex would probably be in hospital for a while. So when it got to early November, I decided to embrace the Christmas festivities with my three-year-old — we put the tree up, went to the Christmas markets. I was so worried about how things would be for him.
Alex was born at 36 weeks, following a weekend admission, steroid injections, and a planned C-section. He weighed exactly what the scans had predicted: 4lb 6oz. He was small for gestation, but the birth was perfect.
I had planned a playlist and knew I wanted him to be born to Alex Warren’s Carry You Home. I wanted it to be symbolic — that I would eventually carry him home — and how lovely that it was a song by an artist with the same first name and my auntie’s surname. Everything felt right: Alex was born on my grandma’s (up in heaven) and great auntie’s birthday, too.
Against all odds, Alex had a lot of ups and downs: an emergency transfer to a bigger hospital, an emergency BAS, which didn’t work for him, and then a stent. We were called into a room after this by genetics, and we were told they suspected Alex had a genetic condition called Cornelia de Lange Syndrome, which affects growth, cognitive development, and usually comes with gastro issues (such as reflux).
We were told that Alex had a new mutation of what was suspected to be CdLS. Because it wasn’t on the genetic database, they needed more time to make a definitive diagnosis, but they were 90% certain.
I didn’t understand why the amniocentesis hadn’t shown this, and I believe it’s because they only test for specific genetic conditions. I remember walking out of the room because the walls started creeping in, and I felt claustrophobic — I knew this worsened Alex’s chances. I was so in denial that he had anything “wrong” with him, as he was so perfect to me.
Alex was discharged on Christmas Eve, and we spent five lovely weeks at home.
He was unfortunately readmitted five weeks later, at the end of January, and there has been a lot of worry. At one point, the consultants didn’t think his heart would cope with coming off the ventilator — but he came off eventually and worked his way up to 6kg ready for his Glenn.
During this time, it was fully confirmed that Alex had CdLS, and we focused on managing his gastro problems along with his cardiac issues. We were told that neither I nor Alex’s dad carry CdLS — it mainly occurs “de novo,” at random.
Bad news continued, as when he finally had his Glenn, it failed due to severe clotting, as he’d had a prolonged stay in the Intensive Care Unit (ICU), which had affected his veins and arteries through lines.
Alex is very smiley and has a BT shunt. We don’t know how long it will last, and the team don’t think he will ever be eligible for the Glenn again — or a heart transplant. However, they will reassess. We’re still holding on to a glimmer of hope.
Currently, Alex is doing really well, waiting for his peg, and then he will hopefully be discharged.
Alex loves his big brother Zachary, enjoys chin kisses, listening to Ed Sheeran, and dancing with mummy and daddy. Although he does seem a little delayed, he has very good awareness, and I’m not worried about his development. I can’t imagine our lives without Alex — he’s brought so much joy, taught us to advocate, given us another level of resilience, and really put life into perspective. We admire our little warrior.
If I could say anything to parents reading this: follow your gut, and do what’s right for your family. It’s been the hardest journey — and it’s been extremely difficult with a three-year-old too, who’s spent most of his life living in Ronald McDonald House. But I don’t regret my decision, and I love my boys both so much.
Whatever a parent’s decision is when it comes to termination, there is no right or wrong. I don’t wish to sugar-coat any of our experiences, as there have been many times where I’ve watched my baby suffer so much — and ultimately, that’s a guilt I’ll always carry.
We don’t have the biggest network of support, but our biggest supporters have been our siblings, my partner’s mum, our grandparents, my auntie and our friends — all of whom we are thankful for.
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