All donations are tax-deductible

Every child deserves a future free from STXBP1 disorders.

We fund Australian research and stand beside every family living with this rare genetic disorder.

Donate now Meet the families

A family affected by an STXBP1 disorder, smiling together.

35+

families supported

35+
Families in Australia: 85%
Present with epilepsy: 5th
Most common epilepsy gene: 100%
Funds go to research

Understanding the condition

What is an STXBP1 disorder?

Everyone has the STXBP1 gene. It holds the instructions for making the STXBP1 protein, which nerve cells need to release the chemical messengers that let them talk to each other.

In an STXBP1 disorder, a change (mutation) in one copy of the gene means too little working protein is made, and the brain can't communicate as it should. In most cases the change happens spontaneously and isn't inherited from either parent.

Learn more about STXBP1 disorders →

1 in 30,000 people are estimated to be affected. STXBP1 is one of the five most common genes behind severe childhood epilepsies.
What families live with

Seizures, intellectual disability, low muscle tone, speech impairment (often non-speaking) and movement disorders.
No cure yet

Today's care manages symptoms only. There is no treatment that targets the cause, which is why research matters.

A smiling mum sitting beside her toddler, who is standing in a supported walker.

Why it matters

Every step is hard-won

For a child with an STXBP1 disorder, standing, taking a step or saying "Mum" can take years of therapy (if ever). Families call these moments inch-stones, and they celebrate every single one.

"Sometimes progress isn't loud. Sometimes it's measured in inchstones."

An STXBP1 Australia family

There is still no cure and no treatment that targets the cause. Research is how we change that, and it's funded by people like you.

Help fund a cure Meet the families →

The reality of seizures

For some children, seizures never let up

Most children with an STXBP1 disorder have epilepsy. For some, the seizures keep coming despite medication, day and night, week after week. This is one child's reality, shared by their family.

Seizures in a week: 400+; seizures in a single week
Longest seizures: 45+ min; seizures needing rescue medication, every week

"Two months ago we started a new medication trial, and for the first time we're seeing a reduction in the length of her seizures. We've gone from 400+ seizures a week, including multiple cases of rescue medication administered for 45-minute+ seizures every week…"

An STXBP1 Australia family

Better treatments only come from research. Help us find them faster.

Fund better treatments

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