Timothy Syndrome Alliance

Timothy Syndrome Alliance (TSA) is the global patient organisation for CACNA1C-Related Disorders, a group of ultra-rare genetic conditions that can affect the heart, brain, development and mental health, including Timothy Syndrome and Long QT type 8. We support over 250 families across 39 countries, connecting people who are often the only known case in their region to an informed, moderated global community. Families consistently tell us that the period after diagnosis is one of the most overwhelming experiences of their lives, and that finding TSA changed everything. We exist to make sure no family faces that moment alone.
As a community-led charity guided by world-class researchers and clinicians, we provide trusted information, peer support, counselling, and direct access to specialists who understand CACNA1C. We maintain the CACNA1C Community Registry, have co-produced the first international language and management guidelines consensus statement for the condition alongside an expert panel spanning the USA, UK and Europe, and actively support our research teams in securing funding, including directly funding the first dedicated speech and language research study for children with CACNA1C-Related Disorders. Our mission is to improve diagnosis, treatment and care for individuals worldwide, and to support the families and carers of those diagnosed, because when families, clinicians and researchers work together, even the rarest conditions can become the focus of meaningful progress.