May is Williams Syndrome awareness month, so we wanted to share a little bit about our daughter, Lucy, who has Williams Syndrome.

Williams Syndrome (WS) is a deletion of around 25-28 genes on one copy of the 7th chromosome. The deletion almost always happens randomly and can affect anyone. It is estimated that this deletion happens in 1 in 10,000 people, making WS extremely rare. 

The key marker of a William Syndrome diagnosis is the missing gene "elastin". The missing copy of the elastin gene is responsible for many of the health challenges that come along with Williams Syndrome, including heart and vessel problems. 

Lucy has had 12 heart and other procedures including two open heart surgeries at Starship Hospital. People with Williams Syndrome typically have similar facial features, and share many of the same extraordinary gifts and unique challenges. Developmental delay and learning challenges are common, as is an overly friendly personality and deep emotional connection to music. 

Williams Syndrome can't be easily described, as each individual with WS is so vastly different... but they all have a zest for life and contagious joy. Anyone who has met our Lucy knows that. 

Why am I telling you this? Quite simply, with one main goal in mind: acceptance. I hope that by explaining WS and getting people comfortable with WS it will lead to a life for Lucy where she is not seen as "less" than her peers and is given equal opportunity to succeed. WS is not something that is going to go away. She won't grow out of it, and it's going to cause lifelong challenges for her. Getting people comfortable with her differences now will only lead to acceptance down the road. 

I also hope that by spreading awareness the medical community becomes more familiar with WS. I won't lie... it's hard to be the medical expert on your child's condition. As the medical community becomes more familiar with WS, this will lead to more kids getting diagnosed early and getting the much needed care and therapies early on. So if you’ve got any questions about WS feel free to have a chat to us, we’d love to tell you all about it.

💜