In this film, a collaboration between the Timothy Syndrome Alliance (TSA) and Cardiff University, we explore the importance of connections between individuals and families with lived experience of CACNA1C-related disorders (CRDs) and Timothy Syndrome (TS), academics, clinical teams and researchers. The more links we make, the stronger our network becomes and the faster we grow our understanding of our rare disease. Without connections, we can't grow or learn.
#CACNA1C #TimothySyndrome #LongQT8 #RareDiseases #Awareness #Research #StrongerTogether #RareDisease
TSA is a parent-led registered charity for an ultra-rare genetic disease which presents with a spectrum of cardiovascular, endocrine and neurological/ neurodevelopmental symptoms.
Our mission focuses on improving diagnosis rates, treatment, and support for individuals with CACNA1C-related disorders which includes Timothy Syndrome and LongQT8, while also aiding their families and caregivers. We focus on five core areas: raising awareness and understanding, improving diagnosis and care, supporting our community, providing information and advice, and driving research and clinical development. By prioritising these vital areas, we aim to make a lasting impact.
We align with the following UN Sustainable Development Goals:
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