Physical Health United Kingdom Project #56113

Lifesaving Global Rare Disease Patient Registry

by Timothy Syndrome Alliance (TSA)

Project Report | May 22, 2024
Did the 'For The Love of CACNA1C' campaign work?

By Sophie Muir | Chair of Trustees

In our last report, I shared how collaborating as a team can significantly impact rare diseases, whether through advocacy and awareness, patient-centred care, or research and innovation. When it comes to rare diseases, we are stronger together, and it's great to have you on the team!

Throughout February we ran a ‘For The Love Of CACNA1C’ campaign on our social media channels to continue to raise awareness of our rare disease. We worked together as a community to create personal messages of hope and support to signpost CACNA1C individuals, families and carers who may not have found us yet. With your support, we can spread the word far and wide. The growth of our community increases knowledge and understanding of our disease-causing gene, we are dependent on it.

Did the ‘For The Love Of CACNA1C’ campaign work?

It totally did.

I've created a graph to illustrate the impact you have made from supporting our social media channels. The pink colour represents the months of this year to date. Look at the numbers for March following the February campaign!

Throughout April, we launched another campaign, this one involved close collaboration and planning with our families in Brazil to ensure we accurately represented the stories and messages they wanted to share. All our posts during April were in Brazilian Portuguese as well as English.

Look at the numbers for May and it’s only the 22nd!

We are delighted to share that the growth in May includes a family in Brazil, meaning we are now in contact with, and able to support, 8 CACNA1C families in Brazil.

As our community expands, real-world healthcare data can be converted to evidence through the CACNA1C Community Registry (which currently has 72 participants) to accelerate and support clinical and basic research.

Teamwork does make the dream work.

Thank you for all your support.

You are making a difference.

Permalink

Jan 24, 2024
Teamwork makes the dream work

By Sophie Muir | Chair of Trustees

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.

Permalink

Sep 28, 2023
Post CACNA1C Conference update

By Sophie Muir | Chair of Trustees

Joshua Henderson (Pulse Infoframe)

Great to be able to share with you the latest updates on the global CACNA1C Community Registryand our work at Timothy Syndrome Alliance (TSA).

Our ‘Connect CACNA1C Global Network Conference’ was amazing!

Registered attendees totalled 70 in number and were a great mix of families and individuals impacted by a CACNA1C diagnosis, healthcare professionals, researchers and scientists. At any one time, there were 48 people online - 4.5 hours is after all a long commitment. For those who couldn’t join due to other commitments, time zone differences, having to leave part way through and for those wanting to watch again we recorded all six talks from the conference. These talks were:

The Impact of CACNA1C Real-World Data: CCR Registry Update and Vision - Sophie Muir & Joshua Henderson (Pulse Infoframe)

Differences in the expression of CACNA1C between the brain and the heart - Dr Nicola Hall (Department of Psychiatry, Oxford University)

Using patient-derived stem cells to investigate CACNA1C-related disorders - Dr Gemma Wilkinson (NMHII, Cardiff University)

Multiple beta cell-independent mechanisms drive hypoglycaemia in Timothy syndrome - Dr Maiko Matsui (Cardiovascular Research Institute, Weill Cornell Medicine)

Heart and Beyond Heart: clinical spectrum of CACNA1C variants, literature revision - Dr Anwar Baban (Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome)

Predicting functional effects of genetic variants in calcium and sodium channels such as CACNA1C - Dr Henrike Heyne (Hasso-Plattner-Institute, Potsdam, Germany and Mount Sinai School of Medicine, NY)

Using an AI language translation service our recordings are language-accessible ensuring that everyone, regardless of their geographic location, has the opportunity to watch. As many of the talks included work that has yet to be published these recordings are to be hosted on an unlisted site for the first 12 months, if you’d like access to view the talks please do email me at sophie@timothysyndrome.org.

All the best

Sophie

Permalink

‹ 1 2 3 4 5 ›

About Project Reports

Project reports on GlobalGiving are posted directly to globalgiving.org by Project Leaders as they are completed, generally every 3-4 months. To protect the integrity of these documents, GlobalGiving does not alter them; therefore you may find some language or formatting issues.

If you donate to this project or have donated to this project, you can receive an email when this project posts a report. You can also subscribe for reports without donating.