Timothy Syndrome Alliance (TSA)

Timothy Syndrome Alliance exists because families facing a CACNA1C-Related Disorder diagnosis needed someone to exist for them. CACNA1C-Related Disorders are a group of life-altering genetic conditions, including Timothy Syndrome and Long QT type 8, that affect the heart, brain and nervous system. They are caused by variants in the CACNA1C gene and are so rare that most clinicians will encounter one or two individuals in their entire career. No approved treatments currently exist. And for the families who receive this diagnosis, the road to getting there takes an average of 9.7 years. When a child is finally diagnosed, families don't just face a medical challenge. They face a moment of... read more Timothy Syndrome Alliance exists because families facing a CACNA1C-Related Disorder diagnosis needed someone to exist for them. CACNA1C-Related Disorders are a group of life-altering genetic conditions, including Timothy Syndrome and Long QT type 8, that affect the heart, brain and nervous system. They are caused by variants in the CACNA1C gene and are so rare that most clinicians will encounter one or two individuals in their entire career. No approved treatments currently exist. And for the families who receive this diagnosis, the road to getting there takes an average of 9.7 years. When a child is finally diagnosed, families don't just face a medical challenge. They face a moment of profound isolation. They face clinicians who may never have seen another case. They face a system with no clear roadmap for what comes next. And they face all of this, in many cases, alone. We built TSA because that isn't good enough. Our mission is to ensure that no family navigating a CACNA1C-Related Disorder diagnosis has to face it without support, without community, and without hope for change. We do this by connecting families across the world, funding and driving research into the condition, setting the clinical standard for how it is managed, and supporting the wellbeing of the people behind every diagnosis. Today we support over 250 families across 43 countries in 25 languages. We are volunteer-led. We are a Cycle 3 grantee of the Chan Zuckerberg Initiative Rare As One Network, one of only 30 patient organisations worldwide selected for that programme. We exist because our community needed us to. And we are building the roadmap to change what this diagnosis means for the families who come after.