Hypoplastic Right Heart Syndrome: Hope’s Story

Hope was diagnosed with a rare heart condition, Hypoplastic Right Heart Syndrome (HRHS), at the 20-week scan. Her mum, Kim, shares their story in the hope of raising more awareness for the condition:

Our journey began as a rocky one. We found out we had lost a twin during our pregnancy, after several trips to our early pregnancy unit for bleeding. Each time we had an ultrasound and baby looked healthy. It was thanks the the sonographer who scanned us at our 12-week dating scan that we found out .

At our 20-week scan, we were excited to see our baby again. It was hard coming to terms with the news we had lost a twin, but we couldn’t wait to see if our second pregnancy would be a boy or girl.

The sonographer called my name, took us through for our scan and proceeded to check over baby. She was sat low in my pelvis – or so we thought- and he struggled to get a clear image. After around 30 minutes, we took a walk and tried to jiggle baby around.

After another 15 minutes, he called another sonographer to come and check something. At this point we became worried. The next words we heard will forever stay with me: ‘We can’t see baby’s heart properly.’

My stomach was in my throat; I was terrified I was losing the remaining twin. My mind raced as we moved to the senior sonographer (who just happened to be the lady who we saw at 12 weeks). She spent a further 20 minutes looking over our baby’s heart. Then she said, “We can only see three chambers of the heart”. It was the Thursday before the Easter Bank Holiday 2022, and she said she would ring the fetal medicine unit at another hospital to get us booked in as soon as possible.

The following Tuesday, we were seen by a cardiologist, and he diagnosed our baby girl with hypoplastic right heart syndrome (HRHS) with transposition of the great arteries (TGA), tricuspid atresia, VSD and ASD (holes in the heart).

We were told that HRHS is a rare condition and there was only a 70% chance our baby would survive to age five. We were given the option of a termination. My baby girl had already overcome so much by this point, I was willing to do whatever it took to at least give her a chance.

My pregnancy was thoroughly monitored right up until birth, with three weekly growth scans and midwife checks. At 28 weeks, we had a discussion with our consultant, paediatrics and the NICU team as to what we wanted to happen at birth. I had been given the ok to deliver vaginally, but we agreed that a planned induction would be the safest way for our daughter to arrive. At this appointment, we had to plan for the worst case scenario – how far we wanted to go to keep her alive should her condition be unstable. This was the hardest thing I’ve ever had to do, planning what palliative care I wanted her to have before she was born. I left this appointment terrified. My partner suffers with anxiety, and I had no way to comfort him as my own anxiety was through the roof.

Thankfully, the rest of our pregnancy was relaxed. The day before my planned induction, I started with Braxton Hicks. They intensified as the day progressed and I went up to hospital. On 15th August 2022, our heart warrior arrived to a team of around 20 waiting for her arrival. She weighed 8lbs 1oz.

We had some skin-to-skin contact before she was whisked off to be stabilised in NICU. One hour later, I was allowed to go and meet my baby. She was perfect. I remember how her skin had a blue tinge (we were told this could be the case).

Hope spent 24 hours in NICU, before being transferred to the surgical centre her for monitoring. She had required no immediate intervention at birth, no prostaglandin, no oxygen etc. She was given an NG tube, however she was solely on breastmilk, and able to directly breastfeed.

We spent four days at the surgical centre and were discharged home on a home monitoring plan, with surgery being planned for a few weeks later. At ten days old, Hope was admitted to our local hospital for bronchiolitis and started on medications – spironolactone and furosimide.

At five weeks old, she had surgery – an atrial balloon septostomy – to widen one of the holes in her heart. The following day, she had a pulmonary artery band fitted, to reduce blood flow to her lungs. Surgery went well and she was stepped down to the ward after 48 hours.

It was just before moving to the ward we noticed that Hope’s left leg had become mottled. An ultrasound showed she had a blood clot around her groin. She was immediately started on enoxaparin injections.

Our stay after surgery was brief and, once I had been trained to administer the injections, we were discharged home. Hope was on the injections for six weeks, with weekly blood tests to ensure her anti-Xa levels where within range.

We have had a few more admissions to our local hospital for respiratory infections, bronchiolitis, rhinovirus and enterovirus, but otherwise Hope is thriving.

We’re currently in the interstate, awaiting the Glenn procedure, but our cardiologist thinks we can go until after Hope’s first birthday before she needs it. I asked at one appointment if she would need to have a switch operation to correct her TGA, but they think the unique way her heart has formed has, in its own way, tried to correct itself.

I wanted to share our story, as I remember searching the internet for HRHS cases and I couldn’t find anything. Everywhere I looked, information was about the left side. Our story can help other families with HRHS babies and raise awareness.

Our journey hasn’t been an easy one, but I’m thankful everyday for giving our baby that chance at life and I am grateful to every member of staff involved in her care. Most importantly, I’m grateful to the sonographer who initially found Hope’s heart condition – it’s thanks to him we had the care and intervention ready for when she was born.

Has your baby got a heart defect? Find out more about the diagnosis, questions you may want to ask your specialist and getting the support you need here.