Today is #CACNA1C #AwarenessDay. Please show your support by sharing this post. We are hoping we can be loud all over the world. (This reel can be found in multiple languages on our YouTube account).
CACNA1C-related disorders
-> Are rare genetic disorders
-> Affect an unknown number worldwide
-> Can result in life-threatening health problems
-> are often misdiagnosed
-> currently have no cure
TSA supports CACNA1C globally from the UK. We promote #research to understand how the gene changes cause symptoms and to develop therapies and treatments.
CACNA1C-related disorders, including #TimothySyndrome and #LongQT8, are multisystemic and individuals found to have any CACNA1C gene change (including those with Variants of Uncertain Significance #VUS) should receive cardiac, developmental, psychiatric, endocrine (particularly diabetic) and neurological (epilepsy) screening. This however is currently not understood nor advocated for by key bodies including the National Health Service (NHS), something we are working on.
For more information about our work please watch the latest film ‘Connections’ (found on our website, here and YouTube), a collaboration between the Timothy Syndrome Alliance (TSA) and Cardiff University / Prifysgol Caerdydd, 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 #raredisease. Without connections, we can't grow or learn.
#RareDiseases #Awareness #calcium #ionchannels #channelopathies