Our ultra-rare disease charity focuses on improving the lives of individuals with CACNA1C-related disorders (CRDs) including Timothy Syndrome (TS) and LongQT8. The vast majority of individuals in our community are children. Our disease presents with a range of cardiac and neurodevelopmental symptoms, and no treatments are currently available. CRDs are rare and their prevalence is unknown. There are <100 cases of TS diagnosed worldwide. Prevalence is unknown due to the rarity and CRDs being a newly characterised disorder.

Our community is geographically dispersed globally. Knowledge is limited and researchers have few resources to study the conditions. Our families are not only facing unique challenges but often feel isolated and unsupported. Healthcare professionals require further knowledge about these conditions in order to provide appropriate support - variants in CACNA1C are so rare that clinicians may only see one or two individuals in their lifetime - and families often find themselves on a diagnostic odyssey.

Our charity works to support these families. We have a global support group and have successfully piloted our Mind the Gap Parental Resilience Programme (small group, evidence-based counselling tailored to our disease-specific needs and circumstances with trained and experienced mental health professionals) which we aim to run annually and expand to siblings and the bereaved.

We raise awareness of this gene to promote early detection, diagnosis and access to care. We connect our community through in-person and online conferences and promote research through global collaborations. We are integrated and co-producing research aims and goals, designing studies, recruiting, and engaging to feedback results. With the support of our Scientific Advisory Board, we manage a worldwide CACNA1C Community registry to make available high-quality clinical data for research.

We know as a community that we are stronger when we work together yet we face many challenges and funding decisions sometimes favour the relatively more common rare conditions on which there is generally more knowledge and awareness. That is why you make such a difference. Please consider a donation or starting a fundraising challenge today to help us continue to support, connect, and grow our community. Help us meet our research goals for our loved ones. Thank you.