How your donation will help

Every donation we receive goes to help fund the vital work that we do as a charity.

Your donation will help support and connect the CACNA1C community

Raising awareness through our films, website and social media channels also signposts those living with a CACNA1C diagnosis towards TSA and the CACNA1C community.

Rare diseases can easily cause patients and their families/carers to feel isolated, overwhelmed and misunderstood. Low prevalence means there is a huge geographical spread between individuals.

Our support group breaks down the barriers of borders, time zones and even language using its translation tools, meaning patients and families/carers can easily share experiences with someone on the other side of the globe. Sharing knowledge and support has a big impact on those affected by this complex gene.

Being a parent/carer is not easy at the best of times. ‘Mind the Gap’, our facilitated interactive group programme for parents/carers, supports this additional layer of complexity a CACNA1C diagnosis can add.

Sometimes families need extra support. Your support has enabled cardiac equipment – a defibrillator – to be donated to a family, and sadly, it has also helped another family with funeral expenses for their child.

Your donation will help improve CACNA1C diagnosis, outcomes and quality of life

Written with healthcare professionals in mind, our interactive guide to understanding CACNA1C-related disorders including Timothy Syndrome and Long QT Syndrome Type 8 is currently in production.

Results of recent advocacy work will see the addition of CACNA1C to the ‘early onset or syndromic Epilepsy’ panel and ‘CACNA1C-related disorder’ as a clinical indication to existing panels listing CACNA1C, contained in the Genomics England PanelApp, a publicly-available knowledgebase used by experts throughout the worldwide scientific community, and relate to genomic tests listed in the NHS National Genomic Test Directory.

Clinicians and other healthcare professionals use PanelApp to view and interpret a panel that has been applied to their patient and to look at the evidence for the inclusion of a gene(s) in their patient report during a Multidisciplinary Team (MDT).

Your donation will help support CACNA1C research initiatives

Our worldwide CACNA1C Community Registry collects data so that patients’ real-world experience is documented in a way that researchers and pharmaceutical companies can use to study the condition, improve the disorder’s diagnosis and management, and develop treatments.

We work closely with researchers based in the Division of Psychological Medicine and Clinical Neurosciences in Cardiff University’s School of Medicine, who are investigating the effects of CACNA1C variants on brain development and mental health as part of an international study with Stanford University.

Both in-person and virtual conferences held in 2019, 2020 and 2021 provided the opportunity for the CACNA1C community, scientists and researchers, as well as clinicians and other healthcare professionals from all over the world, to make connections and hear about the latest advances in understanding CACNA1C. Plans are underway for the next gathering – there is a true strength when we come together.