Ode to Delayed Diagnosis

Viviana was born with a multitude of health issues and developmental concerns. Despite constantly raising concerns with every health professional we encountered, nothing ever seemed to stick. We saw multiple GPs and two private paediatricians at prominent hospitals in Sydney before she was even 9 months old. After hours of late-night researching in desperation, we even brought up Williams Syndrome ourselves.

Despite this, we were repeatedly dismissed. We were informed we were first-time parents and that there was “no chance she has a syndrome.”

Heloise with Viviana on Freshwater Beach, NSW.

We were informed we were first-time parents and that there was “no chance she has a syndrome.”

Years of self-doubt, endless struggles, hospital visits and surgeries later, Viviana’s preschool teachers brought up getting her tested for Williams Syndrome. Our jaws dropped. I honestly thought surely they were having me on, but it couldn’t be a coincidence. I explained that we had already raised it with multiple doctors when she was a baby and had been assured there was no chance she could have Williams Syndrome — but we would raise it again at her next appointment with her new paediatrician.

Our incredibly knowledgeable and thorough paediatrician informed us that it was very unlikely she had Williams Syndrome, but due to the multiple concerns raised over the years, she would arrange the genetic testing so we could rule it out for good.

Three weeks later we got the call informing us that Viviana did in fact have Williams Syndrome.

Our jaws dropped again.

That moment was a whirlwind. Realising you were never imagining the symptoms. That your concerns were real. That you had genuine reasons to escalate when you did.  There was vindication in that, but it was bittersweet, because no parent wants their child to have a genetic condition that impacts their health and how they’re able to participate within society.

I take time to process things. I need to understand the full picture before I can properly digest it, and at that stage, outside of the health conditions relating to our daughter, we knew very little about WS.

My husband is much more direct and processes things immediately. In a strange way, it worked in our favour. I could support him as he grieved the life he thought she was going to have, while he dove headfirst into research and understanding what outcomes later in life could look like for her.

As we learnt more about Williams Syndrome, I slowly allowed myself to grieve too.

Up until that point, we genuinely thought Viviana was going to grow out of her symptoms. We didn’t know any better, and truthfully, that was the guidance we had been given as well. Accepting that her symptoms weren’t just a phase and that our baby girl had a genetic condition with severe health implications was scary and overwhelming.

Why her?

But eventually, you reach a point where you place the grief to the side and bring yourself back to basics.

Our baby girl has always been her. A diagnosis never changed that, and our love for her has never and will never change either. She is full of life, charismatic, spontaneous, fun, hilarious and delightfully sweet. We would never change that for the world.

We knew irrevocably that she was brought into this world to bring happiness and life to the people around her — and what a blessing it is to be her parents.