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Diagnosis of William's Syndrome: One Family's Journey [Part 1/2]

Updated: Apr 29, 2023

When I was first asked to write this blog, I immediately said 'yes, absolutely' and then had a minor panic at what I was going to write about and whether anyone would even be interested in hearing our story of navigating a world with a child with additional needs. As it turns out, I have a lot to say on the matter (!) From initial diagnosis through to surgery, ongoing care, raising awareness and the red tape that surrounds SEN support in general.

Our son, Finn, was born in July 2019. My pregnancy was mostly uneventful; aside from hellish all-day nausea for the first 14 weeks, overwhelming tiredness and some back pain, all was good.

Looking back, it was during my pregnancy that I started to feel uneasy; I had this terrible feeling something was 'wrong' but I couldn't put my finger on it. Our first child, Ella, had been what some may call an 'easy' baby. I remember a couple of friends making a comment along the lines of 'Ella was so good, the next one will be a nightmare!' - they meant absolutely no harm and in no way do I resent them for it but the comments stuck with me... for the whole pregnancy.

At 41 weeks exactly, our baby boy was born and I cried with relief when the midwives placed him on me and he was okay. I remember thinking 'oh he looks a bit small' because at 41 weeks, I think I was expecting a whopper (I mean Dan is 6ft 3in!). All his APGAR scores were fine and whilst the midwives questioned why he was only 6lb 8oz they couldn't find anything wrong with him or my placenta. We just wondered if I'd got my dates wrong. (I knew I hadn't and knowing what we know now, his low birth weight makes a lot of sense...but hey! you trust the professionals right?

We eventually saw an amazing GP called Dr. Carey-Jones. Now, I know it may seem odd that I can remember her name but she basically saved Finn's life that Saturday.

All his newborn checks were good and we were finally discharged the following evening, ready to settle into life as a family of four.

When Finn was twelve days old he woke up with terrible nappy rash and he just screamed and screamed. I felt awful and was a total mess. We eventually saw an amazing GP called Dr. Carey-Jones. Now, I know it may seem odd that I can remember her name but she basically saved Finn's life that Saturday. It was the start of our journey and without her we (and quite literally Finn) may not be where we are today. She examined him and told us he had a heart murmur. I immediately went into panic mode.

'We came to the GP for nappy rash and now he's got a heart murmur?!'

She told us not to worry, that lots of babies are born with murmurs and that they are usually innocent. To be on the safe side she phone the hospital and the Paediatrics team asked us to go in for Finn to be checked. We arrived at 6.30pm the same evening and they were brilliantly fast. They confirmed the murmur and told us we'd get an appointment for an echocardiogram for further investigation.

The next 4 weeks passed in a newborn haze. Dan went back to work and I tried to remember how to look after a tiny human. Before we could get the echo, Dan noticed that Finn was really sucking in underneath his diaphragm, remembering the warning signs to look out for from the hospital, we headed to A&E that evening.

We were seen straight away because Finn was so tiny. We didn't know it until later but due to his increased heart rate and respiratory rate he met two of the markers on the sepsis pathway and therefore was pumped full of antibiotics even before his blood results were back. (thankfully negative - no sepsis!) To add to this, I had mastitis and was basically attached to the pump, taking paracetamol and antibiotics and felt awful. At 1am we arrived to the ward and Finn slept well, but it was only on the second day that he had his echo.

The consultant left to carry on with his day and I googled it. I shouldn't have googled it.

The results showed Finn had Supra-Valvular Aortic Stenosis (SVAS) and peripheral pulmonary stenosis. (Words that mean so much now but at the time were just long, complicated medical terms without meaning). The consultant saw our very confused faces and sat down with us. He drew a picture of Finn's heart to explain. In a nutshell, both his aorta (pumping blood from his heart to the rest of the body) and his pulmonary arteries (pumping blood from the heart to his lungs) were too narrow. His heart was having to work extra hard. Not your 'innocent' heart murmur but in fact, something quite serious that needed immediate attention. We were referred to the specialist cardiac unit at Southampton General Hospital (SGH). The consultant left to carry on with his day and I googled it. I shouldn't have googled it.

'Dr. Google' informed me that SVAS is most commonly associated with a genetic disorder called Williams-Bueren Syndrome (WS) ; the result of a micro-deletion of approximately 26 genes on chromosome 7. Both SVAS and WS are very rare.... 1 in 18,000 live births... 1 in 18,000... I mean what are the chances!?!?! A totally random gene deletion on either my X or Dan's Y chromosome...

I stayed up most of the night at Finn's bedside reading about WS...I think I read everything I could lay my hands (or typing fingers) on. In summary, I learnt that WS is characterised by cardiovascular problems, distinctive facial characteristics and learning difficulties. It is a syndrome and therefore there is a spectrum as to how severely (or not) a child may be affected.

Everything I thought I knew suddenly crumbled around me that night on the paediatric ward. Dan wasn't there (only one parent allowed to stay), my baby boy was still hooked up to monitors for a respiratory tract infection and he had just been diagnosed with not only a life threatening heart condition but also the potential for lifelong developmental and physical challenges.

I cried my heart out. I couldn't stop. I got no sleep and spent the night either staring at my phone reading journal articles or staring at Finn, wondering what his life was going to be like. It's safe to say I looked bl**dy awful the next morning when I decided to ask the Consultant about Finn. I was honest and said I had read up about WS. I asked why they hadn't mentioned it the day before. She said it would need to be confirmed by genetic testing (at SGH) but that Finn wasn't showing any of the other physical characteristics associated with WS. It sort of put our minds at rest yet, as we know now, this meant nothing...

We were discharged with an appointment to see a consultant cardiologist at Southampton the following day...

Part 2 to follow next month x


Kirsten is a mother of two children aged 8 and 3.5 years old and lives in the South East of England. She works in healthcare and in her spare time enjoys reading and a glass of wine (or two!). She has taken part in a number of fundraising activities for the Williams Syndrome Foundation and the Evelina London Children's Hospital.

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