Meet the families

This is Ava, she is 4yo and lives in Sydney with her sister, parents and dog Jet. Ava was diagnosed at 3 after over 2 years of knowing she was different but not having any answers.

Ava loves the water, music, mirrors, clapping and sensory play. Her laugh lights up a room and she gives the best cuddles. We've never met anyone who tries as hard as Ava at everything she does. We hope further research and eventually a treatment and cure may help make Ava's life just a little bit easier for her, and help our community to understand more about STXBP1.

Annabelle started experiencing seizures from just fourteen months old. By two years old she was diagnosed with developmental delays, autism, and epilepsy. During her early years of childhood, she was making slow progress, but could run, climb, self-feed, and play with blocks and puzzles. However, all this changed when she experienced a major regression in her skills at the age of four.

Today at twelve years old, Annabelle can no longer walk, is PEG tube fed, and needs full assistance with every aspect of her life. Our hope is that further research will help provide answers and a treatment to the many families living with a loved one with STXBP1 disorder.

Carla had severe seizures within minutes of being born, this eventually led to a diagnosis of an STXBP1 disorder. Carla loves all types of music. She has a radiant smile and claps excitedly when she meets anyone new. We are hopeful that with more research and early intervention Carla will learn to walk and verbalise.

We are the Shipley family from Sydney, and this is our beautiful daughter Coco, who is five. At 10 weeks old Coco started having infantile spasms and lost every skill she had gained. Many tests and a few incredible specialists later, we found our why: a small deletion in her STXBP1 gene.

Our little Koala applies superhuman effort to gain the smallest of skills, and she has just started to walk, drink from a straw and say Mum. She is adorable, funny, cheeky and determined. We wouldn't change her for the world, but we would love for her to live free of seizures and have an ordinary life.

Caleb was born twin 1, a big healthy full-term baby. At 7 weeks he began having seizures, and we quickly saw he was not meeting milestones like his twin brother, older brother and autistic sister. At 6 months he was diagnosed with global delay, at 12 months cerebral palsy with an unknown cause. At just over 1 year old Caleb went into a state of epileptic encephalopathy, constant seizures 24/7 for almost a month. After a few weeks in hospital, he responded to treatment and 6 months later we received his diagnosis of a spontaneous STXBP1 gene mutation.

Today, Caleb continues to have seizures and is unable to crawl, walk, talk or chew, however he delights in cuddles, music and sensory play. Caleb works hard in his therapies to gain new skills and with further research we hope that one day Caleb can enjoy seizure freedom, be independent, and share his voice with the world.

Ashana had her first seizure at 7 days old. Genetic testing was done and at 4 months old we got the diagnosis of STXBP1 disorder. Ashana still has seizures and her development is severely impacted.

Despite her delays and constant setbacks, she is a happy little girl who lights up any room she goes into. She communicates with her eyes and is always smiling. She loves anything noisy or anything she can bang and get a reaction from. We are hopeful for a cure and that Ashana can one day learn to communicate and walk with her brothers.