Austin's fundraiser for STXBP1 disorders

September is awareness month for STXBP1 globally, as STXBP1 is a mutation sitting on the 9th chromosome and September being the 9th month of the year. All the money we raise will go to the STXBP1 Foundation in the US. They are a parent-led organisation, and the only entity that drives research into treatments for this extremely rare condition. The donation currency is in US dollars because of this. Your donation will go directly to the STXBP1 Foundation whose mission is to promote awareness of the disorder, accelerate research, and advocacy.

What is STXBP1 disorder?

STXBP1 is a gene which is important for normal brain function. It plays a vital role in the release of chemicals in the brain (neurotransmitters) which the brain cells use to communicate with each other. A disruption or the absence of this gene results in abnormalities in the function of the brain leading to seizures, developmental delay, learning difficulties and behaviour problems.

There are about 750 known individuals with STXBP1 disorder worldwide and just over ten children here in Australia. They have a wide range of abilities; some are mobile, most are nonverbal, some get control of seizures and others still have seizures every day.

Austin's Story

Our son Austin entered the world as a healthy, happy baby on June 23rd 2021. Two days home from the hospital, at only seven days old he started experiencing seizures. The next five weeks would include three trips to the emergency room, two hospital stays and one ambulance ride; all amongst the backdrop of isolating covid lockdowns. Austin endured invasive blood collections, lumbar punctures and catheters in addition to MRI’s, ultrasounds and EEG’s until we finally got a diagnosis.

At six weeks of age Austin was diagnosed with STXBP1 disorder via genetic testing. In Austin's case, he has a single letter change in the STXBP1 gene. One little letter change with a very big consequence. Austin is currently on anti-epileptic medication but still suffers from breakthrough seizures weekly. Whilst his future is unknown, we won't give up hope for a cure for our little fighter who continues to delight us with his growth week on week. 

Thank you in advance for all your support and please feel free to share this fundraiser with your community.

To learn more about the condition and the clinical research currently being undertaken head to: www.stxdisorders.org