A million steps for STXBP1

All of us have little errors in our genes. 

Most of us are lucky to have these errors in places that don’t make much of a difference. 

We are raising awareness and funds because our gorgeous little girl Coco, has one of these errors in a place that really matters. Coco is missing the tiniest slice of DNA on her ninth chromosome. It’s a tiny slice that causes very large consequences.

Coco has just learned to take her first independent steps, something we were told was likely to never happen. We’re going to use this inspiration to do something great.

Over the course of this month, our family is going to take a million steps for our little girl. We’ve set up an Instagram account (@a_million_steps_for_STXBP1) if you’d like to tag along and share your support. If you can, we’d love your support in funding research to benefit all kids with STXBP1.

September is STXBP1 awareness month globally. 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. 

 Coco’s Story.

We wouldn’t change our Coco for the world. 

We would love to make her load a little easier and allow her the basic human opportunity of living an ordinary healthy life. 

We would love Coco to be seizure-free. Coco’s epilepsy is due to the change in her gene and has proven resistant to treatment. In her 4 years, Coco has been on more than 15 medications to try and control her seizures, and at this current time, her seizures are not medically controlled. Coco’s epilepsy is a complete disrupter. The seizures set back Coco’s hard-fought skills and on a bad day rob her of the ability to chew, stand or sit. It is heartbreaking. 

This is not a sad story. We have much to be thankful for with our amazing little girl. 

Coco is quite possibly the happiest little four-year-old you could ever meet. She shows up every day, giving 100% to her therapies, and has determination and bravery in spades. 

Coco is so very loving and empathetic; when one of her team is having a bad day she will pat their arm, if a friend at kindy is sad she will sit with them or give them a kiss.

Coco works very very hard to gain the smallest of inchstones and rarely grizzles. Every skill is so hard-fought and requires quite the entourage. 

Coco is a complete performer and loves to dance. She highly rates Bob Marley, Teeny Tiny Stevies, and the Rolling Stones. We are so proud of her excellent taste in music. 

Coco is nonverbal but her intention is strong. We know that communication is an essential part of her being able to make her own choices, and her understanding surprises us daily and she never misses an opportunity to let you know she loves you.

We are all beyond proud of our little girl and what she achieves. We really couldn’t love her more and every day she wakes with her little giggle is a wonderful day. 

What is STXBP1?

Genetic conditions are complex. I need to share that this is not the way our Neurologist or Genetics Team described STXBP1, but hopefully will help you understand things a little, at least.

Syntaxin Binding Protein One is a chemical that helps to build connections between neurons in the brain. The production of this protein is described by a gene on the ninth chromosome. STXBP1 disorders occur when there is either a deletion in the gene, or the correct spelling of the gene is jumbled up. 

There are about 700 people around the world with an STXBP1 disorder and just over ten children here in Australia. It was identified 10 years ago, and the oldest living person is in their 40s. 

It can help if you think of the brain like a railway network. Connections between neurons are like the track we place between stations. Tracks allow us to move quickly between places that are important, so as we learn new things, we lay down track. Kids with STXBP1 disorders take longer to lay down these tracks than you or I.  Sometimes much longer.

STXBP1 causes developmental delays, epilepsy, and an increased chance of SUDEP. There is no magic pill. Rare diseases like ours rely entirely on their community of parents and loved ones to raise awareness and funds for life-changing treatments. We believe it is important to step up, not just for our little girl but for our whole STXBP1 family, as well as giving hope to the babies who are born with this disorder down the track. 

We hope that with our love and support, Coco will live a long and happy life. 

 Thank you,

Ben, Chelsey, Otis and Coco x