Lifesaving Global Rare Disease Patient Registry

Teamwork makes the dream work: The importance of Working Together

This phrase is about how working as a team can lead to better outcomes than a single person working independently. It is very applicable to rare diseases so I shall use our rare gene CACNA1C as an example and expand on how you are already part of our team.

We are growing

Yes, we are nano-rare. When Timothy Syndrome Alliance (TSA) was registered as a charity in 2019 there were 43 known living individuals impacted by CACNA1C globally. But we are growing. We are now a global community of over 160 individuals. In 2023 we connected with 38 individuals known to have a CACNA1C gene change. Our goal is to increase that number in 2024.

Word is spreading

Signposting. Raising awareness through reports such as this, blogs, articles and social media enables individuals, families and carers to find us for support, information and knowledge. Everything we do and you share leaves a digital trail, similar to breadcrumbs, helping individuals and families with a CACNA1C diagnosis to find us. Every time we grow our community, we also increase our knowledge and understanding of the CACNA1C gene. As our community grows so does the number of participants in our CACNA1C Community Registry. This registry transforms real-world healthcare data into real-world evidence and puts our community at the centre of research.

Help spread the word

By working as a team we can achieve our dream; we can advance knowledge to accelerate research and drive progress towards treatment and therapies.

The 29^th of February 2024 is a huge date in the calendar for all rare diseases - it is Rare Disease Day. It’s a day where we all work together to raise awareness and generate change for the 300 million people worldwide living with a rare disease, their families and carers. Our amazing CACNA1C community have once again stepped up as a team to be part of our ‘For The Love Of CACNA1C’ campaign. Leading up to Rare Disease Day each day during February our social media channels will be filled with personal messages of hope, support and signposting aimed at individuals, families and carers who have not found us yet.

With a disease so rare it means most people will live hundreds of miles apart, in different countries, and on different continents. This signposting is critical to them finding us.

You reading this makes you part of our team, our rare disease team, our CACNA1C team, our spread the word team. Now, let's amplify our impact.