Cathy was born in 2020 in Adelaide, South Australia. At birth, it was noted that she had prominent ridging of the sagittal suture, along with dysmorphic features. She was immediately referred to the Craniofacial Unit, and had genetic testing recommended. A few days later, Cathy had a confirmed diagnosis of Craniosynostosis and eventually a diagnosis of Noonan's Syndrome with a mutation on the KRAS gene. During the pre-surgery scans, a small Dandy Walker malformation was also detected on her cerebellum. 

Despite all these scary sounding diagnoses, Cathy flourished right from the start.

In July 2021, she had her first Cranial Vault Remodelling. Her surgery went really well, and despite a rocky first few days in the hospital, she recovered amazingly well and was back to her usual self as soon as she was home.

After a few months, it appeared that her Noonan's caused her bone to grow back far more quickly than expected. Cathy’s skull was already showing signs of reverting to its pre-surgery shape. 

After many appointments and discussions, the family took a phone call from the hospital recommending a second Cranial Vault Remodelling the week following. Cathy’s Mum Bev recalls it was “quite a whirlwind but we are so glad we did, and having learnt some valuable lessons the first time around, her recovery was much smoother. Once again, she bounced back remarkably quickly and it's been incredible watching her development take off since then”.

Despite a challenging first 2 years, Cathy is positively thriving.

She loves singing, dancing, swimming and being a big sister. While the rarity of her genetic mutation makes it very difficult to predict how things may develop for her, her family is hopeful that the second surgery is the last.

“I want to say to others not to underestimate these kids, or their families. They are so tough, resilient, and capable of so much more than you imagine.”

- Mum Bev 

THANK YOU TO CATHY AND HER FAMILY FOR BEING A VOICE OF HOPE AND STRENGTH FOR THE CRANIOFACIAL COMMUNITY