Over 250 families. 41 countries. One condition so rare that most doctors have never seen it. We exist because they needed us to.

When a child is diagnosed with a CACNA1C-Related Disorder — a group of life-altering genetic conditions including Timothy Syndrome and Long QT type 8, affecting the heart, brain and nervous system — families don't just face a medical challenge. They face a diagnostic odyssey that takes an average of 9.7 years. They face clinicians who may never have encountered another case. And they face that moment alone, often with no one to call and nowhere to turn.

We built TSA because that isn't good enough.

Today we support over 250 families across 41 countries — and we're being contacted by new families every other day. What unites them is a gene variant so rare that clinicians may see one or two individuals in their entire career, and a condition for which no approved treatments currently exist. We exist because they needed us to — and we're building the roadmap to change that.

Here is what we do.

We connect families so they don't face this alone. Through our global support community, moderated spaces and online conferences, we bring together people who truly understand what a diagnosis of Timothy Syndrome, Long QT type 8 or another CACNA1C-Related Disorder means. In July 2026, families, clinicians and researchers from five continents are joining us in Cardiff for our Connect CACNA1C Conference.

We fund and drive research. Our CACNA1C Community Registry — with 126 participants sharing their data — is powering the first studies into how symptoms cluster around specific gene variants. We have funded our first dedicated research project: a world-first study into speech and language outcomes in CACNA1C, led by researchers at Murdoch Children's Research Institute in Australia. A CACNA1C Gene Portal is in development, bringing together variant information and clinical data in one open resource for clinicians and families worldwide.

We set the clinical standard. In 2025 we co-produced the first international consensus language and management guidelines for CACNA1C-Related Disorders including Timothy Syndrome and Long QT type 8, currently available as a preprint and under review at the European Journal of Human Genetics. For the first time, clinicians meeting one of our families will have an evidence base to refer to.

We support the people behind the diagnosis. Our Mind the Gap programme delivers free, evidence-based counselling through our partnership with Rareminds — specialist mental health support tailored to individuals, couples and families impacted by CACNA1C. In 2025 we delivered 37 sessions and handled over 160 direct enquiries from families and clinicians across multiple countries.

We are a Cycle 3 grantee of the Chan Zuckerberg Initiative Rare As One Network — one of only 30 patient organisations worldwide selected. We are volunteer-led, and 98.3% of our expenditure goes directly to charitable activities. But grant funding is largely restricted, and it's the unrestricted support of individuals like you that gives us the freedom to respond to our community's needs as they emerge.

If something in what you've read has moved you — please give what you can, and share our page. Not everyone can donate, and that's completely fine. But a share reaches families who don't yet know we exist. It reaches clinicians who haven't yet heard of CACNA1C. It reaches researchers who might one day change everything for our children.

Thank you for being here.