Skye’s very serious heart defects went undiagnosed for a terrifying 19 months. Despite her parents raising their concerns with health professionals numerous times since she was a newborn, Skye’s symptoms were not recognised as being signs of an undiagnosed heart condition. Her mums, Clara and Susie, share their traumatic journey:
Our daughter, Skye, was born in July 2020 with no known health conditions. No heart defects were detected during pregnancy (despite several growth scans) or when she was born.
The morning after her birth, the baby doctor did all the normal checks and discharged us home. She was our first and we couldn’t wait to start life as a family of three. All our dreams had come true to bring home our baby girl.
Skye’s first few months at home were HARD. She was an unhappy little baby, with what we were told was ‘colic.’ She would cry and scream through most evenings.
She was always very small and really struggled to gain weight, although apparently didn’t struggle enough, as she stayed on the 2nd centile, so this was not seen as a concern.
She struggled to breastfeed properly, lasting no longer than about ten minutes before falling asleep (was this normal? We were told by various people that all babies fed differently). She would sweat profusely, whilst feeding and sleeping (perhaps she just got hot?). She suffered with projectile vomiting, struggled to sleep and had delayed jaundice. She generally seemed to struggle with her new life.
We were first time parents, during COVID, and getting the help she needed was very hard. Skye seemed to have too many little things wrong that didn’t add up to anything other than various ‘aliments’, we were told.
As time went on, we noticed her heartbeat and breathing were very fast, especially when feeding. When she had a cold she really struggled, and her chest was very wheezy. One doctor even prescribed her an asthma pump as a result – a shocking misdiagnosis.
Skye was also very slow to develop and started to fall behind physically. She was slow to sit up and was completely immobile after that, not able to crawl/stand/walk/shuffle. Despite numerous visits to GPs and out-of-hours, we were constantly told that there was nothing wrong with our baby and we had nothing to worry about, she was our first and nothing was untoward. But our parental instincts told us something different.
We pushed and pushed and, eventually at 19-months old, Skye’s heart murmur was detected by a paediatrician. This is when our nightmare began. The doctor who detected her murmur was astounded that it had been missed for all this time, as it was incredibly loud and she heard it instantly.
We were admitted immediately and later rushed by ambulance to a specialist hospital, as an emergency case, to their specialist cardiac ward. That’s where multiple heart defects were found. Skye was diagnosed with a minimum of three very large VSDs (ventricular septal defects – holes in the heart), mitral valve regurgitation, a severely enlarged heart, possible cardiomyopathy, low muscle tone and a failure to thrive.
The VSDs were allowing blood from the high-pressured side of her heart across to the low pressured side and flooding her lungs with excess blood. Her lungs were so damaged from this extra blood being forced into them that her consultant was seriously concerned there was irreversible damage. Skye was put through various diagnostic testing, which involved a lot of poking and prodding and procedures under general anaesthetic.
We remained in hospital for two weeks, all the while Skye was oblivious to why she was there. Her body had learned to fight to stay alive on a daily basis and she didn’t feel any more poorly than before. Emotionally, Skye suffered from being in hospital and being subjected to all these tests, whilst being completely unaware of who and what was going on. She was always quiet, quite shy and anxious, but we left hospital with a fearful little girl. Despite all the efforts from her cardiac team, it was impossible to avoid the trauma she faced, and it was far from over.
We just could not believe Skye had been living with such a serious heart condition, undiagnosed, for 19 months. Due to the large size of the holes in her heart, she was constantly exhausted. Her heart was working so hard that each day for her was the equivalent of a healthy heart person running a marathon, and she was slowly losing the race. We are forever grateful to that paediatrician at our local hospital who finally took our worries seriously and finally detected a heart murmur.
Skye started treatment immediately and, a couple of weeks after diagnosis, she had heart surgery. Due to the location of the VSDs, and sheer size, they could not directly operate to close them, so decided on a palliative procedure of fitting a pulmonary artery band. This would relieve the pressure on her lungs and allow her body to take a break, with the hope that the holes might begin to close on their own. The pressures in her heart would be changed and blood would not rush in the wrong direction.
It was a simple operation, however due to the damage she’d suffered from the late diagnosis, the surgery was extremely hard for Skye to recover from. Her heart had to get used to a new way of working.
Skye was recovering in PICU after the operation and she’d had a relatively settled first night, but deteriorated within seconds right before our eyes. She suffered an extremely traumatic 29 minute cardiac arrest the day after her operation, which both of us witnessed as we were constantly by her bedside. Watching doctors and nurses struggle to save her, and see Skye fight to hold onto life like that, is an unimaginable pain, and there is no way to describe how we felt when the consultant finally came to us and said her heart was beating again, just a couple of minutes before they opened her up to put her on emergency bypass as a last resort.
Following this event, Skye was in an induced coma for almost a week to ensure her body could rest and recover. Neuro protection was administered, as there was risk of brain damage following lack of oxygen during the arrest. We thank our lucky stars that Skye fought to come back to us and her incredible PICU team didn’t give up on her. That week, sat by her bedside day and night, was the most painful time of our lives.
When they started to bring her round, she began using sign language to communicate with us, and we jumped for joy knowing our little girl was still in there and there seemed to be no obvious signs of brain damage.
Skye had an elongated PICU stay but was discharged to the ward soon after waking from her coma. She had to come off a lot of drugs, which was difficult to watch. She also lost a lot of muscle and strength, and had to learn to sit up and use her hands to do simple tasks again. However, after a few days on the ward, we were finally on our way home!
When we pulled onto our driveway, Skye gave us a round of applause, and we felt like we began life as a three once again. Skye got stronger everyday and we immediately noticed the differences. She instantly stopped sweating and her heart was no longer beating like she’d run a marathon. We find sweating is not often mentioned as a symptom of cardiac conditions, but it was one of Skye’s first symptoms, right from birth. One of the first things our local consultant cardiologist asked us was, “Does she sweat a lot?” We responded with a resounding, “YES!” We had no idea this was a symptom and want to flag this for other parents and GPs too.
Skye was simply struggling to breath and breastfeed/eat at the same time before her surgery and she became so exhausted she’d fall asleep. Now the surgery had allowed her to do this and she began to thrive.
Six months following the surgery, Skye really started to blossom. She went from a tiny dot with no energy or zest for life, timid and shy, to a bubbly, confident, stronger and chatty little girl. She began standing and taking steps, something she had never even taken an interest in before. Even her hair and feet started to grow (both of which hadn’t appeared to have changed since she was born – her body clearly focusing on other priorities!)
The change has been quite staggering, and she continues to blossom and surprise us every day. We have since had further investigations, as Skye suffers from general gross motor delay and hypermobility. It is now apparent that she has an undiagnosed genetic disorder, which is likely to link her heart condition with hypermobility and gross motor delay. This is an ongoing investigation by the genetic team, which could take years.
For now, Skye is bossing life as a three-and-a-half year old. She is walking mostly unaided now and has even started pre-school.
After nearly two years from diagnosis, we feel in a position to be able to share her story and raise awareness. Even if it helps just one other child.
If Skye’s condition was detected prenatally – or even a few weeks/months after her birth – her story would have been a whole lot different. She should have had her surgery at a few weeks/months old, not 20 months. Her lungs wouldn’t have been so damaged, and she wouldn’t have had the complications and traumatic events that followed, nor would her anxiety and trauma be so profound that it continues to affect her everyday life.
Skye is continuing to have further treatment, as unfortunately her VSDs have not closed on their own. Her valve is still an issue and her heart is a lot larger than it should be. Her lungs, however, do appear to be recovering well.
There will be further investigations this year and surgeries to follow. We are getting used to the idea that Skye is likely to have a lifelong, incurable heart condition, but watching her attack life and thrive, is the biggest gift and greatest pleasure any parent could wish for.
Sadly, the multiple doctors we took Skye to did not know what the symptoms could mean, and no-one was able to put the pieces together. Which is why we want to share our story and the symptoms to look out for.
Our Think HEART awareness campaign is an easy way for health professionals and parents to recognise the five key symptoms that a baby may have an undiagnosed heart condition. Learn how to Think HEART and order free resources here.