My 14-year-old daughter Marli lives with an extremely rare genetic condition called TBL1XR1 syndrome. As part of this condition she also lives with epilepsy, Chiari I malformation, autism and significant sensory challenges.

Because the condition is so rare, most doctors, therapists, and educators have never encountered it before. Much of our journey has been learning as we go.

Marli didn’t walk until she was 2½ years old and didn’t start talking until she was 5. Every year the gap between Marli and her peers becomes a little wider, but she continues to face the world with courage, determination, and her own beautiful way of seeing things.

Although we know there are other families around the world living with TBL1XR1, we have never met another child with the same condition. For many years we honestly felt like we were the only ones.

In October 2026, an extraordinary event is taking place in Istanbul: the TBL1XR1 Global Family Forum and Scientific Conference. Families and leading researchers from around the world will come together to share the latest research, therapies, and lived experiences connected to this rare condition.

For families like ours, opportunities like this are incredibly rare.

Attending would allow us to:

• Meet other families who truly understand what life with TBL1XR1 is like

• Learn from scientists and clinicians researching the condition

• Gain practical advice about therapies, education, and daily life

• Help Marli see that she is not alone in the world

As Australians, the cost of travelling to Turkey is significant. We are hoping to raise funds to help cover:

• Flights from Melbourne to Istanbul for Marli and her mum

• Accommodation during the conference

• Conference registration and local transport

Our dream is simply to be in a room with other families walking the same path — to learn from the experts studying this condition and bring that knowledge home to help Marli thrive.

If you’re able to help, whether by donating or simply sharing this page, it would mean the world to us.

Thank you for helping give Marli the chance to connect with her global community, contribute to research, and help other families navigating the complexities of this rare genetic disorder.

With gratitude,

Felicity & Marli