Every parent believes that their child is ‘one in a million.’ Our little girl, Coco, is one in one hundred and twelve million.
Coco is four-years-old and has a rare genetic condition. There are 700 people globally and just ten children in Australia who have the condition. Coco was born with a very small deletion on her ninth chromosome. It would take just over three years and many tests and medical experts for us to find it.
Coco was a very sleepy newborn. As a second-time mum I should have relished the fact that my baby was an excellent sleeper, but I couldn’t shake the feeling that all was not well with our darling. At ten weeks old Coco started to have seizures.
Coco was quickly diagnosed with a rare epilepsy called infantile spasms - nasty little seizures with mostly large consequences. Our medical team were frank about her prospects, and the mistake of Googling found little in the way of hope.
She was sedated, in hospital and fed via a tube and on a cocktail of medications to try and control her seizures. Overnight our little girl lost every skill she had gained in her first weeks of life. It was a very worrying and lonely place to be.
Finding out ‘why’ took a long time. Epilepsy is a broad description with a wide range of causes and presentations. We now have firsthand knowledge of the many different types of epilepsy.
Coco’s development was significantly affected, and she received a global developmental delay diagnosis just before her first birthday. We began to collect more of these labels, assigning new ways of explaining how Coco was impacted, but the ‘why’ continued to elude us.
We were slowly making peace with the idea that we might never have our ‘why’. We threw ourselves into research and therapeutic support to help our girl. Over time we settled into our new normal.
As Coco turned two, we travelled to Melbourne to meet with Professor Ingrid Scheffer. She is the most remarkable woman, credited with discovering the first genetic epilepsy, amongst other impressive things. She told us with confidence that Coco had a developmental epileptic encephalopathy with an underlying genetic cause. Twelve months later our genetic team in Sydney proved her right. Just after her third birthday Coco was diagnosed with an STXBP1 disorder, not to be confused with a Star Wars robot.
We found our why.
We would love to tell you that the diagnosis delivered us certainty. But, children like Coco are trailblazers, helping define the therapeutic supports and treatment pathways, which are still in the research phase.
The best part of finding our why was finding a new extended family in our global STXBP1 community. Having other families who share the experience and knowledge of raising a child with STXBP1 makes us so grateful. We all need a tribe.
Coco’s story isn’t sad. We lost a small piece of chromosome nine but we found happiness in its place. Embracing Coco’s diagnosis and becoming comfortable with not having all the answers took time. A wonderful by-product of uncertainty is that you really celebrate all the moments, and every morning that Coco wakes with her giggle is a wonderful day.
Our biggest learning as parents has been to allow both our children to surprise us. In those early weeks in hospital we were warned our future might not include Coco walking, talking and the list went on. We didn’t know then how determined and capable our little girl was. She is so much more than the limitations of any label.
Just a few months ago, Coco took her first independent steps. It was better than all the Christmases rolled into one and made our family and Coco’s incredible therapy team beyond proud.
We’re in a rarer club than most, but our life is relatively normal. We balance therapy and medical appointments with giving Coco lots of time to just be a kid. Coco is quite possibly the happiest four-year-old you could meet. A funny, empathetic, and much-loved daughter, sister and friend. We are so proud of all that she is and all that she achieves.
September is STXBP1 awareness month and we’re taking a million steps for our little girl, inspired by Coco’s recent steps. We’ve set up an Instagram account if you’d like to tag along and share your support. Awareness and research funding for rare diseases like STXBP1 relies on families like ours stepping up.
