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Sunshine and Grace: A Journey Through Turner Syndrome

Turners syndrome grace feature
WCH News
Posted 28 Feb 2024

4-year-old Grace is helping us shine a light on Turner Syndrome (TS), a rare genetic disorder found in females, which affects their growth and development and requires ongoing care.

Mum, Brianna is sharing her story to raise awareness for Turner Syndrome Awareness Month and Rare Disease Day.

When and how was Grace diagnosed with Turner Syndrome?

“Grace was diagnosed at about 14 months of age after seeing many doctors as a baby, and eventually a paediatrician at the Women’s and Children's Hospital (WCH).

She was suffering from many unexplained things including poor muscle tone, excessive sweating, swollen hands and feet, poor weight gain, low muscle tone, delay in meeting milestones, reflux and vomiting, and was also classified as failure to thrive.”

Grace underwent extensive appointments at WCH and genetic blood tests eventually uncovered Turner Syndrome, which occurs when one of the X chromosomes is either missing or abnormal.

What has the journey been like for the family?

“Initially it was all very daunting, overwhelming and isolating not knowing anyone else with this condition, however, hospitals and check-ups have become very much a 'normal' part of our weekly routine and Grace has started to find comfort in familiar faces at the hospital. She enjoys the Starlight Express Room, as well as the Clown Doctors.

“Although Grace suffers from medical trauma, her bravery and resilience never ceases to amaze me. She is the definition of joy and happiness, and even through trauma she makes the most of every day.”

Turners syndrome grace story

What would you like people to know about Turner Syndrome?

"I don't even know if most people have ever heard of Turner Syndrome! I would like people to know about how brave these little girls are and how much of a miracle they also are," she says.

I would also encourage those with Turner Syndrome to share their stories and experiences so all the girls can support and empower each other on their journey, as it can feel very isolating.”

And what is Grace like?

“Grace is one of kind! Those who know her, I'm sure would describe her as sunshine mixed with tenacity, sass, and a whole lot of pure joy. Grace won’t let anything stop her. Every challenge she has faced, she has faced it with such spunk and determination.”

Although the challenges are ongoing, Brianna is appreciative for all the help they've had along the way.

"The WCH has been amazing. We try to find the joy in our visits, whether it is the playground, the fun artworks on the wall, the amazing healthcare professionals, or the Starlight Express Room.

The healthcare Grace has received and continues to receive from all disciplines has been second to none, and we thank everyone for their support.”

Thank you to Brianna for sharing their story. Sending our support to all those living with Turner Syndrome.