Meet The Families
Ava
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 a bit easier for her, and help our community to understand more about STXBP-1.
Johnny
While our son and brother struggles daily to communicate and be independent, he continuously works extremely hard to improve his skills and ability. No matter how hard his days are, he always wakes full of joy we can only be envious of. We have hope that one day there will be a treatment to ease his battle and allow him to successfully share and participate in his community.
Annabelle
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.
Mason
This is Mason our beautiful 5-year-old Son. We live in QLD on the Sunshine Coast at Coolum Beach. When Mason first received his diagnosis, our world came crashing down. We were given the letters STXBP1 and told that there was very little information and not to ‘Google’ it. The Pediatricians and Doctors that had been seeing Mason hadn’t even heard of it. So obviously this created more questions than answers.
We had 2 choices. Let this diagnosis define him or strive to give Mason the best possible life through therapy, love and support. We obviously choose the second. Since then, it has been our mission to raise much needed awareness and money about these rare diseases. In hope to one day find a treatment or cure.
Mason brings so much joy to our lives and has taught us so much. He may not be able to verbally communicate but he absolutely adores being around other kids and especially his sisters and cousins. He is one of the hardest working children I know. Hours upon hours of therapy a week with very little complaint. He has taught us how precious milestones are and how so many take those for granted. So instead, we celebrate the inch-stones. Our little man has taught us more in this lifetime than we could have ever possibly hoped for. So in return we will always fight for him, we will always be his voice and one day hopefully find that cure we are all dreaming of.
carla
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.
Tara
Tara and her twin sister were born at 37weeks and came screaming into the world healthy and beautiful. We had 6 weeks of pure bliss with the usual trials and tribulations of parenting twins. We were in awe of everything little thing they did, until at 6 weeks, Tara started doing little things that were our first insight into a world that would turn our family upside down. Those early weeks saw us coming home to empty cribs, trying to explain to our eldest why her sisters were not home, our little girl suffering seizure after seizure, hooked up to machines and have bloods drawn at all hours. But at 8 weeks, we took our little warrior home, and started our journey of therapies, appointments and more appointments.
At 11 months, as I prepared dinner for our girls, I had a call from our neurologist advising that her genetic results had come in and that she had a rare condition called STXBP1. As I googled it, I saw medical summaries that left us feeling so hopeless but also felt so far from the little girl full of smiles that we had at home. The reality was that very little was known and published about her condition at that stage, but as we connected with communities both here and abroad, we learned that our kids were fighters, that they showed their curiosity, their love, their nature and their sass in different ways. We found similarities and differences, things that worked and things that didn’t. It reignited in us the light of hope.
As our community here in Australia has grown, we recognise the importance of making sure our kids have a voice, and that we can represent their needs in the wider international forums. We believe this would be best served by setting up a Foundation here in Australia, allowing us to raise funds for much needed research here, and make sure we can collaborate with international medical teams to get us ready when a treatment is made available.
Tara has taught our entire family so much in these 7 years. She has opened our eyes to the world of disability and rare diseases. She has shown us that anything can be achieved, never set a limit and that you should celebrate every inch stone. To honour the dedication and hard work she puts in every day, we will make sure we advocate for her so she has access to every opportunity too!
Coco
We are the Shipley family and live in Sydney. This is our beautiful daughter Coco who is five years old. Coco was a very sleepy newborn. As second time parents we should have relished that but some how we had this sinking feeling that all was not well with our little baby.
At 10 weeks old Coco started to have a type of seizure called infantile spasms, Horrible little seizures with big consequences. Over the coming weeks our little girl lost every skill she had gained in her first weeks of life and was fed via a tube. Coco’s team of specialist were frank about what Coco’s future would look like offering very little in the hope department. Without knowing why Coco was having seizures we were living a horrible half life, trying to understand why our little girl didn’t develop along the same path as her big brother. Many, many tests and a few incredible specialists later we found our why. Coco has a small deletion on her STXBP1 Gene. This small deletion made a big impact on everything in Coco’s life and still does.
We call it the theory of ten thousand times. Our little Koala has to apply superhuman efforts just to gain the smallest of skills. Coco has just started to walk, drink from a straw and say Mum. All which in those early days felt so far out of her reach. As you can see Coco is adorable. She is also very funny, cheeky and determined. Although we wouldn’t change her for the world, we would love to make her life easier. We would love for her to not to have seizures and we would love for her to live an ordinary life.
Bonnie
Bonnie Mae was born in Dec 2021 and presented with seizures at 3 days old. Bonnie was further diagnosed with infantile spasms and barely opened her eyes for the first 4 months. Fast forward to 20 months, and Bonnie is a beautiful ray of light. She cheers and smiles for everyone and is the happiest little soul. Bonnie works really hard to reach every milestone, and we are hopeful that one day there’ll be a cure for Bonnie and her STXBP1 buddies. Until then, she’ll continue to brighten everyone’s day.
Caleb
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.
Austin
Austin started experiencing seizures from just seven days old. After a month of multiple hospital stays and invasive tests, Austin was diagnosed with STXBP1 at six weeks old. Today, Austin lives with his parents in Sydney where he enjoys playing in the water, singing and anything with The Wiggles. He has significant developmental delays, is non-verbal and unable to walk. Our hope is that one day, Austin will have the ability to lead a happy and independent life.
Ashana
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 noisey 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.
