Relentless seizures. Words that never come. Years for a first step. Help us find a cure.
For many children with an STXBP1 disorder, this is everyday life. There is no cure yet, and no treatment that targets the cause. Australian research can change that, and your gift funds it.
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- 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.
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What families live with
Seizures, intellectual disability, low muscle tone, speech impairment (often non-speaking) and movement disorders.
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No cure yet
Today's care manages symptoms only. There is no treatment that targets the cause, which is why research matters.
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."
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.
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 family's reality.
- Seizures start in the first year
- 89%
- have their first seizure before their first birthday
- Seizures start as a newborn
- 47%
- start having seizures in their first month of life
Sources: STXBP1 Foundation; Xian et al., Brain 2022 (534 individuals).
"Our daughter had more than 1,000 seizures before she was six months old. We lived in a constant state of fight or flight: never fully asleep, always listening for the next one. Every seizure felt like an emergency, and they never stopped coming."
Those first months are when a baby's brain is developing faster than at any other time in life. For a child with an STXBP1 disorder, they can instead be spent in hospital, with EEGs and one medication change after another, while parents count seizures instead of milestones.
Better treatments only come from research. Help us find them faster.
Get involved
How you can help
Every contribution moves us closer to a cure. Choose the way that suits you.
Donate
Fund the research that will change our children's futures.
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Join us →Our work
Behind every gift
"The day we found our community, we knew our daughter wasn't facing this alone."
A Queensland family, newly diagnosed with an STXBP1 disorder
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