Ruby’s Story

Just days before her first birthday, everything changed for our beautiful little girl. She had her first seizures, and from that moment, she slowly began to regress, losing skills that once came so naturally.

Over the next few years, Ruby faced repeated seizures, developmental delays, mobility challenges, and communication difficulties. At two years old we first heard “maybe autism,” and just before her fourth birthday she was diagnosed with level 3 autism.

We knew there was more to the picture, with everything going on medically, we knew it was more than autism.

After extensive genetic testing, we learned Ruby has a variation of unknown significance in the STXBP1 gene, a rare genetic disorder that affects brain development and function.

We are waiting to find out if it's the answer to all the issue's Ruby faces, and receive a formal diagnosis.

Ruby is social, bubbly, and bright, her beautiful spark is still very much there. But it took time, hard work, and countless medical appointments to help her reconnect with the world around her.

Today, Ruby is still non-verbal. She has worked incredibly hard to learn to walk and run, but she needs ongoing support and round the clock care.

We are fundraising to help pay off the medical debt we’ve accumulated over the last four years, and to support Ruby’s ongoing care she needs to continue making progress. Specialist appointments, medical tests, therapies, equipment, and even interstate travel for medical care have all added up.

Every donation, no matter how small, brings us closer to giving Ruby the best care possible.

Thank you for being part of her journey.