The Story Behind Cure SCN2A
OUR STORY
We started Cure SCN2A to help accelerate a treatment for children living with SCN2A-related disorders.
Meet Jack ↓
ABOUT US
Our Story
Do nothing. Or fight for a cure.
We chose to fight.
Cure SCN2A began after our son Jack was diagnosed with a rare SCN2A mutation. When we were told there was no treatment for his condition, we had two choices:
We are Melissa and Scott Tindal, better known as Jack’s parents. We live on Sydney’s Northern Beaches and Jack is our eldest of 3 young children.
When Jack was born, we were completely in love. We soaked up those newborn days, naturally imagining all the ordinary milestones ahead. But from the beginning, feeding was hard and he struggled to gain weight. From around 6 months old, he began missing milestones. Some came late, but most never came at all.
Meet Jack
As Jack grew, the gap between him and other children became harder to ignore. We watched skills disappear and progress stall. After years of uncertainty, extensive early intervention and placeholder diagnoses including Failure to Thrive and Global Developmental Delay we still did not understand what was behind all of his challenges.
Shortly before Jack’s 3rd birthday, genetic testing finally gave us an answer: SCN2A, a rare genetic condition affecting brain development and function.
The diagnosis explained so much. But it also meant facing a future we had NEVER imagined as parents.
Receiving a diagnosis
We had lost count of the times people reassured us that someone they knew had not spoken until they were 4, or had suddenly started talking out of nowhere, or had simply been a “late bloomer.” We desperately wanted that to be our story too.
But Jack has never said a single word. We still don’t really know what his voice sounds like.
We had to understand that, for Jack, things may be different. He will likely require lifelong care and face complex medical challenges throughout childhood. Most devastatingly, SCN2A can be life limiting for some children.
In the years since Jack’s diagnosis, his challenges have continued. He experienced his first seizures and was diagnosed with a movement disorder. At nearly 5 years old, Jack is non-speaking and has the developmental ability of a 9-12 month old child. Jack now completes around 8 hours of therapy each week, working on basic skills such as using a spoon, a goal we have been working on for 3 years.
The reality ahead
Children like Jack can be dismissed as “too rare to care.” When a condition affects a small number of people, the funding needed to develop a treatment can be difficult to find, and families are often left to build the path forward themselves.
But this is not only Jack’s story.
There are millions of children and families around the world living with rare conditions, facing the same uncertainty, urgency and absence of treatment options. For some genetic conditions, the science and tools are already in place for treatments to be developed. Because SCN2A is a rare condition, early stage research often struggles to attract the funding needed to move potential treatments forward. That's why families and communities like ours are helping bridge that gap.
Rare should never mean overlooked.
Sharing our story, and working as hard as we can to accelerate a treatment for Jack and other children.
Cure SCN2A exists to bring together community, philanthropy and business support to help fund the research needed to develop a treatment for LoF SCN2A, not only for Jack, but for other children living with this condition.
Thank you for supporting us on this journey.
So here we are!
ABOUT CURE SCN2A
About Cure SCN2A
OUR GOAL
01
Help fund the research and development needed to deliver the first treatment for loss-of-function SCN2A by 2030.
OUR MISSION
02
Bring together community, philanthropy and business support to raise the funds and momentum needed to accelerate treatment development for SCN2A.
OUR APPROACH
03
We seek to work alongside existing patient foundations, families, clinicians and researchers around the world, helping fund research and accelerate progress for SCN2A.
Friends, families, local businesses, volunteers, runners, event guests and generous partners have come together to support Jack and the wider SCN2A community. Through campaigns such as A Rare Affair and the Bondi to Manly, every act of generosity helps build momentum towards treatment.
Together, our community is helping us build the path to a treatment.
OUR COMMUNITY
Transparency & Governance
Cure SCN2A is a registered not-for-profit organisation governed by a volunteer Board. Funds raised are applied in line with our charitable purpose, supporting treatment-development research and the operational work required to deliver it. We are committed to transparency, accountability and ensuring every donation is used responsibly.
Cure SCN2A Limited · ABN 26 689 823 989
Help build the path forward
Every donation helps fund the research and momentum needed to bring a treatment for SCN2A closer.