Our mission is to improve the diagnosis, treatment and care of individuals with CACNA1C-related disorders including Timothy Syndrome and LongQT8, and to support the families and carers of those diagnosed.
There is a wide spectrum of physical presentation associated with changes in the CACNA1C gene including cardiac, severe epileptic encephalopathy, hypoglycaemia, developmental delay/intellectual disability, hypotonia, digestive issues, autism spectrum disorder/ADHD, dental issues, syndactyly and/or hip disorders. There are currently no treatment options.
We raise awareness on all aspects of Timothy Syndrome, LongQT8 and CACNA1C-related disorders among the general public, medical & research communities, promoting relevant research, connecting families with experts and researchers at TSA conferences and providing information and education on our website.
We have a strong family global support group offering emotional and practical support, helping to reduce feelings of isolation. We are driving research and clinical development and in June 2022 launched our worldwide CACNA1C Community patient registry.
In May 2021 M4RD featured Timothy Syndrome on #MysteryMonday, covering the basics to help medics and HCPs be more aware of this condition. You can view the highlights here