Our vision is a world where shared knowledge and understanding lead to a cure for everyone with a CACNA1C genetic variant.
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.
CACNA1C is a gene that provides the code for a protein found in cells throughout the body. This protein manages the movement of calcium in and out of the cell, which is critical for many cells’ function. Changes to the gene can cause changes to the protein and its ability to manage calcium movement, making it work more, less, or not at all.
Our short films
Rare Strikes Back
Rare Strikes Back is an award-winning short film we made to coincide with Rare Disease Day on the 28th of February.
Feedback from the judges
- “Thought this video balanced the reality of living with a rare condition with the hope of the Rare Disease Community. It also articulated all the current conversations about Rare Diseases in regards to Covid-19 extremely well.”
- “This is awesome!”
- “I wish I’d made it!”
Timothy Syndrome Alliance
Timothy Syndrome Alliance is our first award-winning film.
In this film, we meet Calvin, who has Atypical Timothy Syndrome – now referred to as a CACNA1C-related disorder. The film highlights the challenges faced by families and how peer support, and the friendship and information that brings, can make a huge difference. Through the words of Calvin, his parents and other members of Timothy Syndrome Alliance, we learn how rare communities are ‘stronger together’.
Counselling supported by the Postcode Local Trust and People’s Postcode Lottery
Postcode Local Trust is a grant-giving charity funded entirely by players of People’s Postcode Lottery.
Our organisation received funds from the Trust to help build the emotional resilience and wellbeing of our CACNA1C community through counselling services and parent & carer groups.
To learn more, see Counselling.
Make a donation
CACNA1C variants present as a spectrum of cardiac, neurologic and developmental concerns – the earlier the screening and diagnosis, the better the healthcare outcomes.
With your help, every donation received will:
- support and connect the CACNA1C community
- improve CACNA1C diagnosis, outcomes, and quality of life
- support CACNA1C research initiatives
Whether setting up a regular payment to donate throughout the year, or making a one-off payment, your support is gratefully received – thank you.
See other ways that you can support us.